Incidental Mutation 'R4612:Smarca2'
| ID |
344900 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smarca2
|
| Ensembl Gene |
ENSMUSG00000024921 |
| Gene Name |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 |
| Synonyms |
Snf2l2, brm, 2610209L14Rik |
| MMRRC Submission |
041823-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4612 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
26582578-26755721 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 26753625 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1584
(D1584E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135784
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025862]
[ENSMUST00000099537]
[ENSMUST00000112637]
[ENSMUST00000175791]
[ENSMUST00000175842]
[ENSMUST00000175953]
[ENSMUST00000176030]
[ENSMUST00000176475]
[ENSMUST00000176698]
[ENSMUST00000176769]
[ENSMUST00000177252]
[ENSMUST00000207054]
[ENSMUST00000207118]
[ENSMUST00000176731]
[ENSMUST00000208091]
[ENSMUST00000208589]
[ENSMUST00000208751]
[ENSMUST00000209085]
[ENSMUST00000208541]
[ENSMUST00000208705]
[ENSMUST00000207812]
[ENSMUST00000207832]
[ENSMUST00000208226]
[ENSMUST00000208915]
[ENSMUST00000208712]
[ENSMUST00000208186]
[ENSMUST00000208027]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025862
AA Change: D1566E
PolyPhen 2
Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000025862
Gene: ENSMUSG00000024921
AA Change: D1566E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
98 |
113 |
N/A |
INTRINSIC |
|
low complexity region
|
135 |
154 |
N/A |
INTRINSIC |
|
QLQ
|
172 |
208 |
2.58e-13 |
SMART |
|
low complexity region
|
216 |
264 |
N/A |
INTRINSIC |
|
low complexity region
|
290 |
314 |
N/A |
INTRINSIC |
|
low complexity region
|
394 |
405 |
N/A |
INTRINSIC |
|
HSA
|
447 |
519 |
1.44e-28 |
SMART |
|
low complexity region
|
559 |
579 |
N/A |
INTRINSIC |
|
BRK
|
601 |
645 |
1.9e-19 |
SMART |
|
DEXDc
|
731 |
923 |
1.34e-36 |
SMART |
|
Blast:DEXDc
|
934 |
966 |
8e-10 |
BLAST |
|
low complexity region
|
1005 |
1014 |
N/A |
INTRINSIC |
|
HELICc
|
1091 |
1175 |
3.84e-23 |
SMART |
|
low complexity region
|
1233 |
1248 |
N/A |
INTRINSIC |
|
SnAC
|
1269 |
1337 |
7.29e-28 |
SMART |
|
low complexity region
|
1344 |
1366 |
N/A |
INTRINSIC |
|
BROMO
|
1391 |
1501 |
3.13e-41 |
SMART |
|
low complexity region
|
1502 |
1524 |
N/A |
INTRINSIC |
|
low complexity region
|
1526 |
1540 |
N/A |
INTRINSIC |
|
low complexity region
|
1564 |
1576 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099537
|
| SMART Domains |
Protein: ENSMUSP00000097135
Gene: ENSMUSG00000024921
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
98 |
113 |
N/A |
INTRINSIC |
|
low complexity region
|
135 |
154 |
N/A |
INTRINSIC |
|
QLQ
|
172 |
208 |
2.58e-13 |
SMART |
|
low complexity region
|
216 |
264 |
N/A |
INTRINSIC |
|
low complexity region
|
290 |
314 |
N/A |
INTRINSIC |
|
low complexity region
|
394 |
405 |
N/A |
INTRINSIC |
|
HSA
|
447 |
519 |
1.44e-28 |
SMART |
|
low complexity region
|
559 |
579 |
N/A |
INTRINSIC |
|
BRK
|
601 |
645 |
1.9e-19 |
SMART |
|
DEXDc
|
731 |
923 |
1.34e-36 |
SMART |
|
Blast:DEXDc
|
934 |
966 |
7e-10 |
BLAST |
|
low complexity region
|
1005 |
1014 |
N/A |
INTRINSIC |
|
HELICc
|
1091 |
1175 |
3.84e-23 |
SMART |
|
low complexity region
|
1233 |
1248 |
N/A |
INTRINSIC |
|
SnAC
|
1269 |
1337 |
7.29e-28 |
SMART |
|
low complexity region
|
1344 |
1366 |
N/A |
INTRINSIC |
|
PDB:2DAT|A
|
1389 |
1410 |
1e-6 |
PDB |
|
low complexity region
|
1480 |
1508 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112637
AA Change: D219E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000108256
Gene: ENSMUSG00000024921
AA Change: D219E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
22 |
N/A |
INTRINSIC |
|
BROMO
|
44 |
154 |
3.13e-41 |
SMART |
|
low complexity region
|
155 |
177 |
N/A |
INTRINSIC |
|
low complexity region
|
179 |
193 |
N/A |
INTRINSIC |
|
low complexity region
|
217 |
229 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175791
AA Change: D237E
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000135412
Gene: ENSMUSG00000024921
AA Change: D237E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
22 |
N/A |
INTRINSIC |
|
BROMO
|
44 |
172 |
1.74e-39 |
SMART |
|
low complexity region
|
173 |
195 |
N/A |
INTRINSIC |
|
low complexity region
|
197 |
211 |
N/A |
INTRINSIC |
|
low complexity region
|
235 |
247 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175842
|
| SMART Domains |
Protein: ENSMUSP00000135800
Gene: ENSMUSG00000024921
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
37 |
59 |
N/A |
INTRINSIC |
|
BROMO
|
84 |
212 |
1.74e-39 |
SMART |
|
low complexity region
|
213 |
235 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175953
|
| SMART Domains |
Protein: ENSMUSP00000135042
Gene: ENSMUSG00000024921
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1jb0a_
|
16 |
80 |
5e-3 |
SMART |
|
PDB:2DAT|A
|
42 |
83 |
3e-23 |
PDB |
|
Blast:BROMO
|
44 |
83 |
3e-21 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176030
AA Change: D1584E
PolyPhen 2
Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000135784
Gene: ENSMUSG00000024921
AA Change: D1584E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
98 |
113 |
N/A |
INTRINSIC |
|
low complexity region
|
135 |
154 |
N/A |
INTRINSIC |
|
QLQ
|
172 |
208 |
2.58e-13 |
SMART |
|
low complexity region
|
216 |
264 |
N/A |
INTRINSIC |
|
low complexity region
|
290 |
314 |
N/A |
INTRINSIC |
|
low complexity region
|
394 |
405 |
N/A |
INTRINSIC |
|
HSA
|
447 |
519 |
1.44e-28 |
SMART |
|
low complexity region
|
559 |
579 |
N/A |
INTRINSIC |
|
BRK
|
601 |
645 |
1.9e-19 |
SMART |
|
DEXDc
|
731 |
923 |
1.34e-36 |
SMART |
|
Blast:DEXDc
|
934 |
966 |
8e-10 |
BLAST |
|
low complexity region
|
1005 |
1014 |
N/A |
INTRINSIC |
|
HELICc
|
1091 |
1175 |
3.84e-23 |
SMART |
|
low complexity region
|
1233 |
1248 |
N/A |
INTRINSIC |
|
SnAC
|
1269 |
1337 |
7.29e-28 |
SMART |
|
low complexity region
|
1344 |
1366 |
N/A |
INTRINSIC |
|
BROMO
|
1391 |
1519 |
1.74e-39 |
SMART |
|
low complexity region
|
1520 |
1542 |
N/A |
INTRINSIC |
|
low complexity region
|
1544 |
1558 |
N/A |
INTRINSIC |
|
low complexity region
|
1582 |
1594 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177484
|
| SMART Domains |
Protein: ENSMUSP00000135869
Gene: ENSMUSG00000024921
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2DAT|A
|
1 |
33 |
4e-17 |
PDB |
|
Blast:BROMO
|
1 |
37 |
1e-18 |
BLAST |
|
SCOP:d1e6ia_
|
1 |
43 |
3e-5 |
SMART |
|
low complexity region
|
62 |
76 |
N/A |
INTRINSIC |
|
low complexity region
|
100 |
112 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176475
AA Change: D259E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000135248
Gene: ENSMUSG00000024921
AA Change: D259E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
37 |
59 |
N/A |
INTRINSIC |
|
BROMO
|
84 |
194 |
3.13e-41 |
SMART |
|
low complexity region
|
195 |
217 |
N/A |
INTRINSIC |
|
low complexity region
|
219 |
233 |
N/A |
INTRINSIC |
|
low complexity region
|
257 |
269 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176698
AA Change: D237E
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000134914
Gene: ENSMUSG00000024921
AA Change: D237E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
22 |
N/A |
INTRINSIC |
|
BROMO
|
44 |
172 |
1.74e-39 |
SMART |
|
low complexity region
|
173 |
195 |
N/A |
INTRINSIC |
|
low complexity region
|
197 |
211 |
N/A |
INTRINSIC |
|
low complexity region
|
235 |
247 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176769
AA Change: D1508E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000135017
Gene: ENSMUSG00000024921
AA Change: D1508E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
98 |
113 |
N/A |
INTRINSIC |
|
low complexity region
|
135 |
154 |
N/A |
INTRINSIC |
|
QLQ
|
172 |
208 |
2.58e-13 |
SMART |
|
low complexity region
|
216 |
264 |
N/A |
INTRINSIC |
|
low complexity region
|
290 |
314 |
N/A |
INTRINSIC |
|
low complexity region
|
394 |
405 |
N/A |
INTRINSIC |
|
HSA
|
447 |
519 |
1.44e-28 |
SMART |
|
low complexity region
|
559 |
579 |
N/A |
INTRINSIC |
|
BRK
|
601 |
645 |
1.9e-19 |
SMART |
|
DEXDc
|
731 |
908 |
4.18e-24 |
SMART |
|
low complexity region
|
947 |
956 |
N/A |
INTRINSIC |
|
HELICc
|
1033 |
1117 |
3.84e-23 |
SMART |
|
low complexity region
|
1175 |
1190 |
N/A |
INTRINSIC |
|
SnAC
|
1211 |
1279 |
7.29e-28 |
SMART |
|
low complexity region
|
1286 |
1308 |
N/A |
INTRINSIC |
|
BROMO
|
1333 |
1443 |
3.13e-41 |
SMART |
|
low complexity region
|
1444 |
1466 |
N/A |
INTRINSIC |
|
low complexity region
|
1468 |
1482 |
N/A |
INTRINSIC |
|
low complexity region
|
1506 |
1518 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177116
|
| SMART Domains |
Protein: ENSMUSP00000135116
Gene: ENSMUSG00000024921
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2DAT|A
|
1 |
33 |
4e-17 |
PDB |
|
Blast:BROMO
|
1 |
37 |
1e-18 |
BLAST |
|
SCOP:d1e6ia_
|
1 |
43 |
3e-5 |
SMART |
|
low complexity region
|
62 |
76 |
N/A |
INTRINSIC |
|
low complexity region
|
100 |
112 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177252
|
| SMART Domains |
Protein: ENSMUSP00000134995
Gene: ENSMUSG00000024921
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
22 |
N/A |
INTRINSIC |
|
BROMO
|
44 |
154 |
3.13e-41 |
SMART |
|
low complexity region
|
155 |
177 |
N/A |
INTRINSIC |
|
low complexity region
|
179 |
193 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207054
AA Change: D261E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207418
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207535
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207226
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177048
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176700
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207118
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176731
|
| SMART Domains |
Protein: ENSMUSP00000135460
Gene: ENSMUSG00000024921
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2DAT|A
|
10 |
33 |
8e-9 |
PDB |
|
Blast:BROMO
|
12 |
35 |
6e-7 |
BLAST |
|
low complexity region
|
83 |
111 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208091
AA Change: D243E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208589
AA Change: D219E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208751
AA Change: D219E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209085
AA Change: D259E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208541
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208674
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208705
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207812
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207832
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208226
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208915
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207944
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208712
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208186
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208984
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208027
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the SWI/SNF family of proteins and is highly similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. Alternatively spliced transcript variants encoding different isoforms have been found for this gene, which contains a trinucleotide repeat (CAG) length polymorphism. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mice homozygous for a targeted mutation in this gene may exhibit infertility and a slightly increased body weight in some genetic backgrounds. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 109 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700019D03Rik |
T |
C |
1: 52,964,635 (GRCm39) |
D31G |
probably benign |
Het |
| 5730455P16Rik |
A |
T |
11: 80,268,806 (GRCm39) |
M1K |
probably null |
Het |
| Abca15 |
A |
G |
7: 119,934,384 (GRCm39) |
D120G |
probably benign |
Het |
| Adam26a |
A |
T |
8: 44,021,830 (GRCm39) |
N553K |
probably damaging |
Het |
| Adam32 |
A |
T |
8: 25,362,752 (GRCm39) |
C558S |
probably damaging |
Het |
| Adam34l |
A |
T |
8: 44,079,587 (GRCm39) |
F212L |
probably benign |
Het |
| Adam39 |
A |
T |
8: 41,278,958 (GRCm39) |
S450C |
probably damaging |
Het |
| Agap2 |
A |
T |
10: 126,915,965 (GRCm39) |
T159S |
unknown |
Het |
| Ahnak |
G |
A |
19: 8,981,088 (GRCm39) |
V791I |
probably benign |
Het |
| Ak7 |
T |
G |
12: 105,727,772 (GRCm39) |
L468R |
probably damaging |
Het |
| Akap12 |
A |
G |
10: 4,304,456 (GRCm39) |
D422G |
probably damaging |
Het |
| Antxr1 |
T |
A |
6: 87,265,155 (GRCm39) |
I129F |
probably damaging |
Het |
| Arhgap32 |
G |
A |
9: 32,170,775 (GRCm39) |
G1185D |
probably damaging |
Het |
| Atf7ip2 |
A |
T |
16: 10,059,427 (GRCm39) |
E322D |
probably benign |
Het |
| Atg4b |
T |
C |
1: 93,714,263 (GRCm39) |
F349L |
probably damaging |
Het |
| Atp6v1c1 |
A |
G |
15: 38,677,856 (GRCm39) |
K127R |
probably damaging |
Het |
| Atxn1l |
C |
T |
8: 110,458,736 (GRCm39) |
V509M |
possibly damaging |
Het |
| B3glct |
T |
A |
5: 149,663,022 (GRCm39) |
I260N |
probably damaging |
Het |
| Bcl2l12 |
G |
A |
7: 44,646,009 (GRCm39) |
P70L |
probably damaging |
Het |
| Bok |
T |
A |
1: 93,621,900 (GRCm39) |
F157L |
probably damaging |
Het |
| Bves |
G |
A |
10: 45,215,373 (GRCm39) |
G16D |
probably benign |
Het |
| Cacna1b |
T |
A |
2: 24,516,864 (GRCm39) |
K65* |
probably null |
Het |
| Casc3 |
A |
G |
11: 98,713,784 (GRCm39) |
T339A |
probably benign |
Het |
| Ccdc18 |
C |
T |
5: 108,283,307 (GRCm39) |
S6L |
probably benign |
Het |
| Cd86 |
A |
G |
16: 36,435,692 (GRCm39) |
Y242H |
probably benign |
Het |
| Chd3 |
A |
C |
11: 69,244,035 (GRCm39) |
Y1249* |
probably null |
Het |
| Chrne |
T |
C |
11: 70,507,848 (GRCm39) |
T284A |
probably damaging |
Het |
| Col12a1 |
T |
C |
9: 79,523,339 (GRCm39) |
D2746G |
probably damaging |
Het |
| Cryaa |
T |
A |
17: 31,897,448 (GRCm39) |
M72K |
probably benign |
Het |
| Csmd1 |
G |
T |
8: 15,971,908 (GRCm39) |
|
probably null |
Het |
| Det1 |
A |
T |
7: 78,493,454 (GRCm39) |
N183K |
probably damaging |
Het |
| Dis3 |
C |
A |
14: 99,328,871 (GRCm39) |
V294L |
probably benign |
Het |
| Dnah2 |
G |
A |
11: 69,374,193 (GRCm39) |
L1493F |
possibly damaging |
Het |
| Dsc2 |
A |
T |
18: 20,174,876 (GRCm39) |
D466E |
probably damaging |
Het |
| Dsg4 |
T |
A |
18: 20,595,470 (GRCm39) |
S558T |
probably benign |
Het |
| Dzip3 |
A |
T |
16: 48,772,403 (GRCm39) |
L422* |
probably null |
Het |
| Elp6 |
T |
C |
9: 110,143,087 (GRCm39) |
F100S |
probably damaging |
Het |
| Epg5 |
C |
T |
18: 78,025,629 (GRCm39) |
T1224I |
possibly damaging |
Het |
| Exoc1l |
A |
T |
5: 76,664,345 (GRCm39) |
N145Y |
probably damaging |
Het |
| F830016B08Rik |
T |
A |
18: 60,434,087 (GRCm39) |
I390N |
probably benign |
Het |
| Fam110c |
A |
G |
12: 31,124,655 (GRCm39) |
T206A |
unknown |
Het |
| Fam187b |
G |
A |
7: 30,676,518 (GRCm39) |
G9D |
possibly damaging |
Het |
| Fat1 |
A |
G |
8: 45,478,184 (GRCm39) |
D2410G |
probably damaging |
Het |
| Fbln1 |
T |
A |
15: 85,122,760 (GRCm39) |
F390Y |
probably benign |
Het |
| Fgg |
A |
G |
3: 82,917,397 (GRCm39) |
N142S |
probably damaging |
Het |
| Fhip1a |
G |
A |
3: 85,637,679 (GRCm39) |
R207* |
probably null |
Het |
| Flcn |
T |
C |
11: 59,683,513 (GRCm39) |
T555A |
probably damaging |
Het |
| Foxq1 |
G |
T |
13: 31,742,808 (GRCm39) |
|
probably benign |
Het |
| Gm3233 |
A |
T |
10: 77,595,498 (GRCm39) |
|
probably benign |
Het |
| Gprc5a |
G |
A |
6: 135,055,927 (GRCm39) |
V125I |
probably damaging |
Het |
| Gria2 |
T |
C |
3: 80,639,358 (GRCm39) |
D218G |
probably damaging |
Het |
| Gtf3c5 |
C |
T |
2: 28,469,596 (GRCm39) |
A103T |
probably benign |
Het |
| Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
| Hspg2 |
A |
G |
4: 137,266,886 (GRCm39) |
T1964A |
possibly damaging |
Het |
| Htatip2 |
G |
T |
7: 49,422,345 (GRCm39) |
E188* |
probably null |
Het |
| Ifna13 |
T |
G |
4: 88,562,113 (GRCm39) |
E170D |
probably damaging |
Het |
| Il4ra |
A |
G |
7: 125,175,255 (GRCm39) |
T488A |
probably benign |
Het |
| Jup |
G |
T |
11: 100,272,660 (GRCm39) |
H251N |
probably damaging |
Het |
| Kif21a |
A |
T |
15: 90,852,426 (GRCm39) |
|
probably null |
Het |
| Klhl28 |
T |
A |
12: 65,004,034 (GRCm39) |
I160L |
probably damaging |
Het |
| Klk1b5 |
A |
T |
7: 43,494,696 (GRCm39) |
T60S |
possibly damaging |
Het |
| Kntc1 |
A |
G |
5: 123,950,706 (GRCm39) |
R1995G |
probably damaging |
Het |
| Lrig2 |
A |
C |
3: 104,370,099 (GRCm39) |
I844M |
probably damaging |
Het |
| Lrp2 |
C |
T |
2: 69,288,771 (GRCm39) |
W3698* |
probably null |
Het |
| Lyar |
T |
A |
5: 38,382,053 (GRCm39) |
S12T |
possibly damaging |
Het |
| Map3k19 |
T |
C |
1: 127,743,037 (GRCm39) |
K1507E |
probably benign |
Het |
| Mre11a |
G |
A |
9: 14,714,199 (GRCm39) |
G267R |
probably damaging |
Het |
| Mthfd1l |
A |
G |
10: 3,980,717 (GRCm39) |
Q473R |
probably damaging |
Het |
| Ncald |
T |
A |
15: 37,397,593 (GRCm39) |
E29V |
probably benign |
Het |
| Neb |
T |
C |
2: 52,177,255 (GRCm39) |
D1362G |
probably damaging |
Het |
| Nme2 |
T |
C |
11: 93,846,428 (GRCm39) |
T7A |
possibly damaging |
Het |
| Nod2 |
T |
A |
8: 89,391,664 (GRCm39) |
L657Q |
possibly damaging |
Het |
| Nrm |
T |
A |
17: 36,174,421 (GRCm39) |
V75E |
probably benign |
Het |
| Ogfod1 |
A |
C |
8: 94,763,975 (GRCm39) |
K20T |
possibly damaging |
Het |
| Omp |
T |
C |
7: 97,794,348 (GRCm39) |
N93S |
probably damaging |
Het |
| Or10h28 |
T |
A |
17: 33,488,454 (GRCm39) |
V252E |
probably benign |
Het |
| Or14a256 |
T |
A |
7: 86,264,944 (GRCm39) |
Q303L |
probably benign |
Het |
| Or5h27 |
T |
C |
16: 59,006,674 (GRCm39) |
I57M |
probably damaging |
Het |
| Pcdhb15 |
A |
C |
18: 37,608,648 (GRCm39) |
T627P |
probably damaging |
Het |
| Pld1 |
A |
G |
3: 28,185,882 (GRCm39) |
T1036A |
possibly damaging |
Het |
| Pogk |
C |
A |
1: 166,226,334 (GRCm39) |
E606* |
probably null |
Het |
| Ppp1r10 |
T |
A |
17: 36,238,823 (GRCm39) |
L292Q |
probably damaging |
Het |
| Prpf6 |
T |
C |
2: 181,273,872 (GRCm39) |
C339R |
possibly damaging |
Het |
| Psd |
T |
A |
19: 46,301,778 (GRCm39) |
D937V |
probably benign |
Het |
| Rbak |
T |
C |
5: 143,160,222 (GRCm39) |
Q277R |
probably benign |
Het |
| Sbno1 |
T |
A |
5: 124,542,087 (GRCm39) |
Y355F |
probably damaging |
Het |
| Sec23ip |
C |
T |
7: 128,352,226 (GRCm39) |
Q201* |
probably null |
Het |
| Serpinb3a |
T |
C |
1: 106,975,337 (GRCm39) |
K157E |
probably damaging |
Het |
| Slc22a28 |
A |
T |
19: 8,078,770 (GRCm39) |
N306K |
probably damaging |
Het |
| Snx29 |
C |
A |
16: 11,265,359 (GRCm39) |
Q530K |
probably damaging |
Het |
| Stard10 |
C |
A |
7: 100,994,877 (GRCm39) |
Q278K |
possibly damaging |
Het |
| Tgm2 |
C |
T |
2: 157,966,124 (GRCm39) |
C510Y |
probably benign |
Het |
| Tlr9 |
C |
T |
9: 106,101,006 (GRCm39) |
P99L |
probably damaging |
Het |
| Tmco4 |
T |
C |
4: 138,717,871 (GRCm39) |
W4R |
probably benign |
Het |
| Tmem151a |
T |
A |
19: 5,121,862 (GRCm39) |
|
probably benign |
Het |
| Tmem255b |
T |
C |
8: 13,504,228 (GRCm39) |
V140A |
probably benign |
Het |
| Trbj1-2 |
C |
T |
6: 41,510,950 (GRCm39) |
|
probably benign |
Het |
| Trpm2 |
T |
C |
10: 77,781,750 (GRCm39) |
T290A |
probably damaging |
Het |
| Tsc22d1 |
G |
A |
14: 76,656,445 (GRCm39) |
E120K |
possibly damaging |
Het |
| Ttc29 |
A |
G |
8: 79,052,175 (GRCm39) |
D352G |
probably benign |
Het |
| Usp25 |
A |
T |
16: 76,830,833 (GRCm39) |
I30F |
possibly damaging |
Het |
| Usp34 |
A |
C |
11: 23,382,268 (GRCm39) |
N1993T |
probably damaging |
Het |
| Vmn2r124 |
A |
C |
17: 18,283,284 (GRCm39) |
H326P |
probably benign |
Het |
| Vmn2r92 |
C |
A |
17: 18,387,132 (GRCm39) |
T157K |
probably benign |
Het |
| Vstm5 |
A |
T |
9: 15,168,789 (GRCm39) |
I118F |
probably benign |
Het |
| Vwa7 |
T |
C |
17: 35,242,426 (GRCm39) |
V510A |
probably damaging |
Het |
| Zfhx4 |
G |
A |
3: 5,462,123 (GRCm39) |
S1266N |
probably damaging |
Het |
| Zfp763 |
T |
A |
17: 33,237,922 (GRCm39) |
N408Y |
probably benign |
Het |
| Zswim5 |
C |
T |
4: 116,843,901 (GRCm39) |
H980Y |
probably damaging |
Het |
|
| Other mutations in Smarca2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01368:Smarca2
|
APN |
19 |
26,751,694 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01907:Smarca2
|
APN |
19 |
26,675,865 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
IGL02039:Smarca2
|
APN |
19 |
26,693,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02110:Smarca2
|
APN |
19 |
26,650,140 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL02561:Smarca2
|
APN |
19 |
26,693,582 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02649:Smarca2
|
APN |
19 |
26,617,986 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL02880:Smarca2
|
APN |
19 |
26,654,024 (GRCm39) |
splice site |
probably benign |
|
|
IGL03028:Smarca2
|
APN |
19 |
26,655,712 (GRCm39) |
splice site |
probably benign |
|
|
IGL03187:Smarca2
|
APN |
19 |
26,650,224 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03213:Smarca2
|
APN |
19 |
26,601,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03354:Smarca2
|
APN |
19 |
26,597,303 (GRCm39) |
missense |
probably benign |
0.01 |
|
Genghis
|
UTSW |
19 |
26,597,284 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
kraft
|
UTSW |
19 |
26,655,763 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Kublai
|
UTSW |
19 |
26,618,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Samarkand
|
UTSW |
19 |
26,631,864 (GRCm39) |
nonsense |
probably null |
|
|
tashkent
|
UTSW |
19 |
26,698,273 (GRCm39) |
missense |
probably benign |
0.06 |
|
Xanadu
|
UTSW |
19 |
26,659,452 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
FR4737:Smarca2
|
UTSW |
19 |
26,608,399 (GRCm39) |
unclassified |
probably benign |
|
|
PIT1430001:Smarca2
|
UTSW |
19 |
26,626,493 (GRCm39) |
missense |
probably benign |
0.35 |
|
R0184:Smarca2
|
UTSW |
19 |
26,669,649 (GRCm39) |
nonsense |
probably null |
|
|
R0306:Smarca2
|
UTSW |
19 |
26,618,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0538:Smarca2
|
UTSW |
19 |
26,668,762 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0565:Smarca2
|
UTSW |
19 |
26,659,275 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0610:Smarca2
|
UTSW |
19 |
26,668,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0669:Smarca2
|
UTSW |
19 |
26,683,600 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0726:Smarca2
|
UTSW |
19 |
26,675,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1184:Smarca2
|
UTSW |
19 |
26,748,333 (GRCm39) |
splice site |
probably benign |
|
|
R1256:Smarca2
|
UTSW |
19 |
26,659,373 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1299:Smarca2
|
UTSW |
19 |
26,749,011 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1306:Smarca2
|
UTSW |
19 |
26,748,388 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1381:Smarca2
|
UTSW |
19 |
26,608,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1400:Smarca2
|
UTSW |
19 |
26,654,140 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1415:Smarca2
|
UTSW |
19 |
26,688,084 (GRCm39) |
missense |
probably null |
0.72 |
|
R1496:Smarca2
|
UTSW |
19 |
26,608,501 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1582:Smarca2
|
UTSW |
19 |
26,729,305 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1666:Smarca2
|
UTSW |
19 |
26,624,434 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1668:Smarca2
|
UTSW |
19 |
26,624,434 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1751:Smarca2
|
UTSW |
19 |
26,617,780 (GRCm39) |
splice site |
probably benign |
|
|
R1861:Smarca2
|
UTSW |
19 |
26,601,284 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1962:Smarca2
|
UTSW |
19 |
26,650,124 (GRCm39) |
nonsense |
probably null |
|
|
R1964:Smarca2
|
UTSW |
19 |
26,650,124 (GRCm39) |
nonsense |
probably null |
|
|
R1998:Smarca2
|
UTSW |
19 |
26,608,493 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2014:Smarca2
|
UTSW |
19 |
26,661,305 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2255:Smarca2
|
UTSW |
19 |
26,748,438 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2392:Smarca2
|
UTSW |
19 |
26,618,050 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2439:Smarca2
|
UTSW |
19 |
26,668,854 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3030:Smarca2
|
UTSW |
19 |
26,729,429 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R3195:Smarca2
|
UTSW |
19 |
26,661,222 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3430:Smarca2
|
UTSW |
19 |
26,668,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3710:Smarca2
|
UTSW |
19 |
26,646,290 (GRCm39) |
unclassified |
probably benign |
|
|
R3845:Smarca2
|
UTSW |
19 |
26,698,273 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4013:Smarca2
|
UTSW |
19 |
26,661,327 (GRCm39) |
splice site |
probably null |
|
|
R4014:Smarca2
|
UTSW |
19 |
26,661,327 (GRCm39) |
splice site |
probably null |
|
|
R4016:Smarca2
|
UTSW |
19 |
26,661,327 (GRCm39) |
splice site |
probably null |
|
|
R4271:Smarca2
|
UTSW |
19 |
26,698,349 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4471:Smarca2
|
UTSW |
19 |
26,597,277 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4730:Smarca2
|
UTSW |
19 |
26,608,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4755:Smarca2
|
UTSW |
19 |
26,631,883 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4999:Smarca2
|
UTSW |
19 |
26,698,255 (GRCm39) |
nonsense |
probably null |
|
|
R5015:Smarca2
|
UTSW |
19 |
26,668,788 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5320:Smarca2
|
UTSW |
19 |
26,668,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5393:Smarca2
|
UTSW |
19 |
26,617,829 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5503:Smarca2
|
UTSW |
19 |
26,659,446 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5503:Smarca2
|
UTSW |
19 |
26,601,336 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5715:Smarca2
|
UTSW |
19 |
26,626,522 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5790:Smarca2
|
UTSW |
19 |
26,654,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5874:Smarca2
|
UTSW |
19 |
26,753,469 (GRCm39) |
intron |
probably benign |
|
|
R6209:Smarca2
|
UTSW |
19 |
26,748,404 (GRCm39) |
nonsense |
probably null |
|
|
R6236:Smarca2
|
UTSW |
19 |
26,673,613 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6291:Smarca2
|
UTSW |
19 |
26,608,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6292:Smarca2
|
UTSW |
19 |
26,608,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6325:Smarca2
|
UTSW |
19 |
26,655,763 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6544:Smarca2
|
UTSW |
19 |
26,608,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6572:Smarca2
|
UTSW |
19 |
26,656,573 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6589:Smarca2
|
UTSW |
19 |
26,597,284 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6601:Smarca2
|
UTSW |
19 |
26,631,777 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6804:Smarca2
|
UTSW |
19 |
26,729,286 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6922:Smarca2
|
UTSW |
19 |
26,668,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7047:Smarca2
|
UTSW |
19 |
26,646,555 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7213:Smarca2
|
UTSW |
19 |
26,624,531 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7257:Smarca2
|
UTSW |
19 |
26,631,864 (GRCm39) |
nonsense |
probably null |
|
|
R7259:Smarca2
|
UTSW |
19 |
26,631,864 (GRCm39) |
nonsense |
probably null |
|
|
R7479:Smarca2
|
UTSW |
19 |
26,617,887 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7512:Smarca2
|
UTSW |
19 |
26,661,209 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8158:Smarca2
|
UTSW |
19 |
26,659,448 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8182:Smarca2
|
UTSW |
19 |
26,608,120 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8207:Smarca2
|
UTSW |
19 |
26,654,080 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8467:Smarca2
|
UTSW |
19 |
26,597,121 (GRCm39) |
start codon destroyed |
probably null |
0.02 |
|
R8527:Smarca2
|
UTSW |
19 |
26,654,187 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8784:Smarca2
|
UTSW |
19 |
26,753,558 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8898:Smarca2
|
UTSW |
19 |
26,608,358 (GRCm39) |
unclassified |
probably benign |
|
|
R9076:Smarca2
|
UTSW |
19 |
26,659,452 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9123:Smarca2
|
UTSW |
19 |
26,693,583 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9125:Smarca2
|
UTSW |
19 |
26,693,583 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9317:Smarca2
|
UTSW |
19 |
26,737,279 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9501:Smarca2
|
UTSW |
19 |
26,617,977 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9514:Smarca2
|
UTSW |
19 |
26,659,452 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9641:Smarca2
|
UTSW |
19 |
26,656,498 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
RF001:Smarca2
|
UTSW |
19 |
26,608,421 (GRCm39) |
unclassified |
probably benign |
|
|
RF001:Smarca2
|
UTSW |
19 |
26,608,386 (GRCm39) |
unclassified |
probably benign |
|
|
RF004:Smarca2
|
UTSW |
19 |
26,608,420 (GRCm39) |
unclassified |
probably benign |
|
|
RF019:Smarca2
|
UTSW |
19 |
26,608,401 (GRCm39) |
unclassified |
probably benign |
|
|
RF021:Smarca2
|
UTSW |
19 |
26,608,397 (GRCm39) |
unclassified |
probably benign |
|
|
RF024:Smarca2
|
UTSW |
19 |
26,608,420 (GRCm39) |
unclassified |
probably benign |
|
|
RF034:Smarca2
|
UTSW |
19 |
26,608,411 (GRCm39) |
unclassified |
probably benign |
|
|
RF040:Smarca2
|
UTSW |
19 |
26,608,422 (GRCm39) |
unclassified |
probably benign |
|
|
RF041:Smarca2
|
UTSW |
19 |
26,608,421 (GRCm39) |
unclassified |
probably benign |
|
|
RF047:Smarca2
|
UTSW |
19 |
26,608,405 (GRCm39) |
unclassified |
probably benign |
|
|
RF051:Smarca2
|
UTSW |
19 |
26,608,388 (GRCm39) |
unclassified |
probably benign |
|
|
X0061:Smarca2
|
UTSW |
19 |
26,698,240 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAAGTCGGACTTGCTATCC -3'
(R):5'- GCTTTTCATTTCTACAGCAACACG -3'
Sequencing Primer
(F):5'- AAGTCGGACTTGCTATCCACAGG -3'
(R):5'- CACGAGCAGCTTTAGATTCTTTG -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation