Incidental Mutation 'R2255:Smarca2'
| ID |
241996 |
| 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 |
040255-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2255 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
26582578-26755721 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 26748438 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 98
(I98L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134995
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025862]
[ENSMUST00000099537]
[ENSMUST00000112637]
[ENSMUST00000175791]
[ENSMUST00000175842]
[ENSMUST00000175953]
[ENSMUST00000176030]
[ENSMUST00000176698]
[ENSMUST00000176769]
[ENSMUST00000176475]
[ENSMUST00000177252]
[ENSMUST00000207054]
[ENSMUST00000207118]
[ENSMUST00000176731]
[ENSMUST00000207832]
[ENSMUST00000209085]
[ENSMUST00000208751]
[ENSMUST00000208712]
[ENSMUST00000208186]
[ENSMUST00000208589]
[ENSMUST00000207812]
[ENSMUST00000208091]
[ENSMUST00000208705]
[ENSMUST00000208027]
[ENSMUST00000208915]
[ENSMUST00000208226]
[ENSMUST00000208541]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025862
AA Change: I1445L
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000025862
Gene: ENSMUSG00000024921
AA Change: I1445L
| 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: I98L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000108256
Gene: ENSMUSG00000024921
AA Change: I98L
| 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: I116L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000135412
Gene: ENSMUSG00000024921
AA Change: I116L
| 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
AA Change: I138L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000135800
Gene: ENSMUSG00000024921
AA Change: I138L
| 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
AA Change: I98L
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000135042
Gene: ENSMUSG00000024921
AA Change: I98L
| 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 |
probably benign
Transcript: ENSMUST00000176030
AA Change: I1463L
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000135784
Gene: ENSMUSG00000024921
AA Change: I1463L
| 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 |
probably benign
Transcript: ENSMUST00000176698
AA Change: I116L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000134914
Gene: ENSMUSG00000024921
AA Change: I116L
| 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: I1387L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000135017
Gene: ENSMUSG00000024921
AA Change: I1387L
| 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 |
probably benign
Transcript: ENSMUST00000176475
AA Change: I138L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000135248
Gene: ENSMUSG00000024921
AA Change: I138L
| 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: ENSMUST00000177252
AA Change: I98L
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000134995
Gene: ENSMUSG00000024921
AA Change: I98L
| 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: I140L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207118
AA Change: I138L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177048
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176700
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207226
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207535
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207418
|
| 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 |
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 |
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: ENSMUST00000207832
AA Change: I138L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000208674
AA Change: I226L
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209085
AA Change: I138L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208751
AA Change: I98L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208712
AA Change: I98L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208186
AA Change: I156L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208589
AA Change: I98L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207812
AA Change: I138L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208091
AA Change: I122L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208705
AA Change: I116L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208027
AA Change: I156L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208984
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208915
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207944
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208226
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208541
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
G |
A |
17: 46,616,561 (GRCm39) |
T1210I |
probably benign |
Het |
| Agbl1 |
T |
C |
7: 76,071,932 (GRCm39) |
F581S |
probably damaging |
Het |
| Ambra1 |
A |
T |
2: 91,747,806 (GRCm39) |
N1061Y |
probably damaging |
Het |
| Aoc1l1 |
G |
A |
6: 48,952,891 (GRCm39) |
R272H |
possibly damaging |
Het |
| Arl6ip5 |
T |
C |
6: 97,209,361 (GRCm39) |
L132S |
probably damaging |
Het |
| Atp10b |
G |
A |
11: 43,125,207 (GRCm39) |
V1058I |
probably damaging |
Het |
| B3gnt4 |
A |
C |
5: 123,649,342 (GRCm39) |
I236L |
probably damaging |
Het |
| Bmper |
T |
A |
9: 23,292,759 (GRCm39) |
I356N |
possibly damaging |
Het |
| Bpifa6 |
T |
A |
2: 153,832,815 (GRCm39) |
I310N |
probably damaging |
Het |
| Btnl9 |
A |
T |
11: 49,060,143 (GRCm39) |
L535* |
probably null |
Het |
| Capn3 |
A |
G |
2: 120,331,732 (GRCm39) |
E614G |
probably benign |
Het |
| Catip |
T |
C |
1: 74,408,159 (GRCm39) |
|
probably benign |
Het |
| Ccdc180 |
T |
A |
4: 45,921,996 (GRCm39) |
S1023R |
probably damaging |
Het |
| Ces2g |
G |
A |
8: 105,694,046 (GRCm39) |
E461K |
probably damaging |
Het |
| Chad |
C |
A |
11: 94,456,523 (GRCm39) |
H200Q |
possibly damaging |
Het |
| Crbn |
C |
T |
6: 106,772,159 (GRCm39) |
|
probably null |
Het |
| Crip3 |
G |
C |
17: 46,740,298 (GRCm39) |
E33Q |
probably damaging |
Het |
| D130043K22Rik |
A |
T |
13: 25,040,894 (GRCm39) |
R105S |
probably damaging |
Het |
| Dmxl1 |
C |
T |
18: 49,979,706 (GRCm39) |
H114Y |
probably benign |
Het |
| Dpp3 |
T |
C |
19: 4,968,347 (GRCm39) |
N242D |
probably benign |
Het |
| Dtx3l |
T |
C |
16: 35,756,949 (GRCm39) |
N78S |
probably benign |
Het |
| Dync2h1 |
A |
G |
9: 6,955,905 (GRCm39) |
|
probably null |
Het |
| Esrp1 |
A |
G |
4: 11,365,211 (GRCm39) |
V260A |
probably damaging |
Het |
| Etfdh |
A |
G |
3: 79,511,349 (GRCm39) |
V544A |
probably benign |
Het |
| Ezhip |
T |
G |
X: 5,994,754 (GRCm39) |
E87A |
probably benign |
Het |
| Fcgr1 |
G |
T |
3: 96,193,233 (GRCm39) |
H255N |
possibly damaging |
Het |
| Fcrl2 |
G |
T |
3: 87,164,655 (GRCm39) |
Y290* |
probably null |
Het |
| Frem2 |
A |
G |
3: 53,559,935 (GRCm39) |
V1524A |
probably damaging |
Het |
| Gabbr1 |
T |
C |
17: 37,382,758 (GRCm39) |
I817T |
probably damaging |
Het |
| Gapdhs |
G |
C |
7: 30,429,333 (GRCm39) |
|
probably null |
Het |
| Gm57858 |
A |
G |
3: 36,074,099 (GRCm39) |
V350A |
probably benign |
Het |
| Gopc |
A |
T |
10: 52,225,181 (GRCm39) |
I356K |
probably damaging |
Het |
| Gpi1 |
T |
C |
7: 33,902,302 (GRCm39) |
N471S |
probably damaging |
Het |
| Gpr171 |
A |
G |
3: 59,005,628 (GRCm39) |
V49A |
probably benign |
Het |
| Greb1l |
T |
A |
18: 10,554,857 (GRCm39) |
N1634K |
probably damaging |
Het |
| Gria1 |
G |
A |
11: 57,076,775 (GRCm39) |
R57H |
probably damaging |
Het |
| Herpud1 |
A |
G |
8: 95,121,241 (GRCm39) |
E344G |
probably benign |
Het |
| Hhip |
A |
G |
8: 80,771,810 (GRCm39) |
F167L |
probably damaging |
Het |
| Hp1bp3 |
T |
A |
4: 137,953,209 (GRCm39) |
D84E |
probably damaging |
Het |
| Ier3 |
A |
G |
17: 36,133,153 (GRCm39) |
Y145C |
probably damaging |
Het |
| Ifi47 |
A |
T |
11: 48,987,474 (GRCm39) |
I414L |
probably benign |
Het |
| Ifnl2 |
C |
T |
7: 28,209,638 (GRCm39) |
A50T |
possibly damaging |
Het |
| Jade1 |
A |
G |
3: 41,546,185 (GRCm39) |
Y70C |
probably damaging |
Het |
| Kif1b |
A |
T |
4: 149,359,454 (GRCm39) |
F94L |
probably damaging |
Het |
| Krt33a |
A |
T |
11: 99,905,004 (GRCm39) |
D167E |
possibly damaging |
Het |
| Map1a |
A |
G |
2: 121,134,272 (GRCm39) |
D1458G |
possibly damaging |
Het |
| Mrgpra4 |
A |
G |
7: 47,631,523 (GRCm39) |
L26S |
possibly damaging |
Het |
| Mtmr2 |
T |
C |
9: 13,707,353 (GRCm39) |
Y230H |
possibly damaging |
Het |
| Nae1 |
T |
A |
8: 105,256,700 (GRCm39) |
D69V |
probably damaging |
Het |
| Nbr1 |
T |
A |
11: 101,463,643 (GRCm39) |
V625E |
possibly damaging |
Het |
| Nek1 |
T |
C |
8: 61,542,807 (GRCm39) |
L702P |
probably damaging |
Het |
| Ntf3 |
T |
C |
6: 126,078,689 (GRCm39) |
*272W |
probably null |
Het |
| Ofcc1 |
A |
C |
13: 40,248,181 (GRCm39) |
L651R |
probably damaging |
Het |
| Olfm3 |
A |
T |
3: 114,915,842 (GRCm39) |
|
probably null |
Het |
| Pcdhb19 |
C |
T |
18: 37,630,997 (GRCm39) |
A264V |
probably benign |
Het |
| Pear1 |
C |
A |
3: 87,659,493 (GRCm39) |
W780C |
probably damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,635,863 (GRCm39) |
H489L |
probably benign |
Het |
| Pros1 |
T |
A |
16: 62,723,935 (GRCm39) |
C228S |
possibly damaging |
Het |
| Rbm10 |
G |
A |
X: 20,501,978 (GRCm39) |
R9H |
unknown |
Het |
| Rwdd1 |
T |
C |
10: 33,878,466 (GRCm39) |
E123G |
probably damaging |
Het |
| Slc22a2 |
G |
T |
17: 12,818,062 (GRCm39) |
V213F |
probably damaging |
Het |
| Slc34a1 |
T |
C |
13: 24,004,991 (GRCm39) |
I412T |
probably benign |
Het |
| Spag6l |
T |
C |
16: 16,595,203 (GRCm39) |
E394G |
probably damaging |
Het |
| Spdef |
T |
C |
17: 27,939,269 (GRCm39) |
T26A |
probably benign |
Het |
| Stk17b |
T |
C |
1: 53,815,731 (GRCm39) |
I23V |
probably benign |
Het |
| Sult2a7 |
A |
G |
7: 14,225,818 (GRCm39) |
I56T |
probably damaging |
Het |
| Tango6 |
T |
A |
8: 107,415,926 (GRCm39) |
|
probably null |
Het |
| Tex46 |
T |
C |
4: 136,337,844 (GRCm39) |
L12P |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,598,684 (GRCm39) |
M19410L |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Unc5cl |
T |
A |
17: 48,766,974 (GRCm39) |
I116N |
possibly damaging |
Het |
| Unc80 |
A |
T |
1: 66,657,417 (GRCm39) |
I1630F |
possibly damaging |
Het |
| Upb1 |
G |
A |
10: 75,272,051 (GRCm39) |
R288H |
probably damaging |
Het |
| Wdr62 |
T |
G |
7: 29,967,328 (GRCm39) |
I309L |
probably damaging |
Het |
| Whrn |
C |
T |
4: 63,336,385 (GRCm39) |
V295M |
possibly damaging |
Het |
| Wrn |
G |
A |
8: 33,819,230 (GRCm39) |
P241S |
probably benign |
Het |
| Zer1 |
G |
A |
2: 29,998,286 (GRCm39) |
L342F |
probably damaging |
Het |
| Zfp687 |
A |
T |
3: 94,917,748 (GRCm39) |
C675S |
probably damaging |
Het |
| Zfp954 |
A |
G |
7: 7,118,321 (GRCm39) |
Y408H |
possibly 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 |
|
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 |
|
R4612:Smarca2
|
UTSW |
19 |
26,753,625 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
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'- CCTCCTTTGCTGTGTTGACGAG -3'
(R):5'- AATCTGAGCTTGCGGTGACC -3'
Sequencing Primer
(F):5'- GTTGACGAGTCTCTGAAATGACCC -3'
(R):5'- CTTGCGGTGACCAAATGAC -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation