Incidental Mutation 'IGL00392:Smarcd2'
| ID |
4479 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Smarcd2
|
| Ensembl Gene |
ENSMUSG00000078619 |
| Gene Name |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 |
| Synonyms |
Baf60b |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
IGL00392
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
106154005-106163798 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106156730 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 221
(D221G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102456
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021049]
[ENSMUST00000021052]
[ENSMUST00000106843]
[ENSMUST00000133131]
[ENSMUST00000140255]
|
| AlphaFold |
Q99JR8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021049
|
| SMART Domains |
Protein: ENSMUSP00000021049
Gene: ENSMUSG00000020708
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
57 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
96 |
108 |
N/A |
INTRINSIC |
|
AAA
|
182 |
321 |
6.96e-25 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021052
AA Change: D268G
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000021052
Gene: ENSMUSG00000078619
AA Change: D268G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
44 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
122 |
131 |
N/A |
INTRINSIC |
|
Blast:KISc
|
136 |
287 |
2e-36 |
BLAST |
|
SWIB
|
307 |
386 |
1.3e-21 |
SMART |
|
Blast:MYSc
|
468 |
514 |
5e-11 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000106841
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106843
AA Change: D221G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102456
Gene: ENSMUSG00000078619
AA Change: D221G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
75 |
84 |
N/A |
INTRINSIC |
|
Blast:KISc
|
89 |
240 |
1e-36 |
BLAST |
|
SWIB
|
260 |
339 |
1.3e-21 |
SMART |
|
Blast:MYSc
|
421 |
467 |
5e-11 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132278
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133131
|
| SMART Domains |
Protein: ENSMUSP00000138057
Gene: ENSMUSG00000020708
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
57 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
96 |
108 |
N/A |
INTRINSIC |
|
AAA
|
182 |
321 |
6.96e-25 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140255
|
| SMART Domains |
Protein: ENSMUSP00000133629
Gene: ENSMUSG00000078619
| Domain | Start | End | E-Value | Type |
|---|
|
SWIB
|
29 |
108 |
1.3e-21 |
SMART |
|
Blast:MYSc
|
190 |
236 |
6e-12 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155243
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174253
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155514
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174017
|
| Coding Region Coverage |
|
| 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, whose members display helicase and ATPase activities and which 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 and has sequence similarity to the yeast Swp73 protein. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk3 |
T |
C |
7: 80,727,757 (GRCm39) |
Y296H |
possibly damaging |
Het |
| Armh3 |
T |
G |
19: 45,928,927 (GRCm39) |
H389P |
probably benign |
Het |
| Brca2 |
A |
G |
5: 150,464,705 (GRCm39) |
T1490A |
probably benign |
Het |
| Btaf1 |
A |
T |
19: 36,987,102 (GRCm39) |
D1732V |
probably damaging |
Het |
| Capzb |
T |
C |
4: 139,016,258 (GRCm39) |
I273T |
probably benign |
Het |
| Carmil1 |
G |
A |
13: 24,278,474 (GRCm39) |
T165I |
probably damaging |
Het |
| Cc2d2a |
A |
G |
5: 43,881,722 (GRCm39) |
|
probably benign |
Het |
| Cdh22 |
A |
G |
2: 164,954,521 (GRCm39) |
Y667H |
possibly damaging |
Het |
| Celsr1 |
T |
A |
15: 85,815,546 (GRCm39) |
Q1823L |
probably benign |
Het |
| Cfap210 |
T |
C |
2: 69,602,328 (GRCm39) |
H361R |
probably benign |
Het |
| Cntrl |
T |
C |
2: 35,027,826 (GRCm39) |
|
probably benign |
Het |
| Dhx15 |
A |
T |
5: 52,314,924 (GRCm39) |
|
probably benign |
Het |
| Dip2c |
A |
T |
13: 9,543,144 (GRCm39) |
D30V |
probably damaging |
Het |
| Dyrk2 |
T |
C |
10: 118,695,749 (GRCm39) |
D503G |
probably damaging |
Het |
| Enpp1 |
T |
A |
10: 24,521,325 (GRCm39) |
I801F |
possibly damaging |
Het |
| Fnbp4 |
A |
C |
2: 90,581,966 (GRCm39) |
|
probably benign |
Het |
| Klk1b5 |
T |
A |
7: 43,865,928 (GRCm39) |
W2R |
probably benign |
Het |
| Lama2 |
T |
C |
10: 27,064,261 (GRCm39) |
K1240R |
probably benign |
Het |
| Matn2 |
A |
G |
15: 34,403,002 (GRCm39) |
N409S |
probably benign |
Het |
| Mep1b |
A |
T |
18: 21,217,243 (GRCm39) |
K121* |
probably null |
Het |
| Mettl26 |
T |
C |
17: 26,095,098 (GRCm39) |
|
probably null |
Het |
| Myh7 |
T |
C |
14: 55,224,845 (GRCm39) |
E574G |
probably damaging |
Het |
| Nfkbie |
G |
A |
17: 45,871,139 (GRCm39) |
|
probably null |
Het |
| Nlrc4 |
T |
C |
17: 74,753,529 (GRCm39) |
R285G |
probably benign |
Het |
| Pax8 |
T |
C |
2: 24,333,144 (GRCm39) |
Y66C |
probably damaging |
Het |
| Plxna2 |
A |
G |
1: 194,482,876 (GRCm39) |
D1523G |
probably damaging |
Het |
| Pou2f1 |
A |
G |
1: 165,724,159 (GRCm39) |
|
probably benign |
Het |
| Prom1 |
A |
G |
5: 44,164,363 (GRCm39) |
|
probably null |
Het |
| Ptk6 |
T |
C |
2: 180,837,611 (GRCm39) |
D436G |
probably benign |
Het |
| Robo4 |
T |
A |
9: 37,319,525 (GRCm39) |
F592I |
probably damaging |
Het |
| Sec24c |
C |
A |
14: 20,743,271 (GRCm39) |
S964R |
probably benign |
Het |
| Sgcb |
G |
T |
5: 73,793,021 (GRCm39) |
N260K |
possibly damaging |
Het |
| Unc13b |
C |
T |
4: 43,240,285 (GRCm39) |
R3569W |
probably damaging |
Het |
| Zfpl1 |
C |
A |
19: 6,131,137 (GRCm39) |
R285L |
possibly damaging |
Het |
|
| Other mutations in Smarcd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01880:Smarcd2
|
APN |
11 |
106,157,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0357:Smarcd2
|
UTSW |
11 |
106,158,158 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0626:Smarcd2
|
UTSW |
11 |
106,158,241 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1524:Smarcd2
|
UTSW |
11 |
106,157,978 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1822:Smarcd2
|
UTSW |
11 |
106,158,222 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2072:Smarcd2
|
UTSW |
11 |
106,156,133 (GRCm39) |
nonsense |
probably null |
|
|
R2074:Smarcd2
|
UTSW |
11 |
106,156,133 (GRCm39) |
nonsense |
probably null |
|
|
R2359:Smarcd2
|
UTSW |
11 |
106,157,990 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3960:Smarcd2
|
UTSW |
11 |
106,157,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4211:Smarcd2
|
UTSW |
11 |
106,157,731 (GRCm39) |
nonsense |
probably null |
|
|
R4258:Smarcd2
|
UTSW |
11 |
106,156,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4822:Smarcd2
|
UTSW |
11 |
106,157,357 (GRCm39) |
splice site |
probably null |
|
|
R5174:Smarcd2
|
UTSW |
11 |
106,157,871 (GRCm39) |
unclassified |
probably benign |
|
|
R6035:Smarcd2
|
UTSW |
11 |
106,157,715 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6035:Smarcd2
|
UTSW |
11 |
106,157,715 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7383:Smarcd2
|
UTSW |
11 |
106,155,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7530:Smarcd2
|
UTSW |
11 |
106,156,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7855:Smarcd2
|
UTSW |
11 |
106,158,392 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9469:Smarcd2
|
UTSW |
11 |
106,163,332 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation