Incidental Mutation 'R4170:Smarcd1'
| ID |
320754 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smarcd1
|
| Ensembl Gene |
ENSMUSG00000023018 |
| Gene Name |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 |
| Synonyms |
D15Kz1, Baf60a |
| MMRRC Submission |
040863-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.844)
|
| Stock # |
R4170 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
99600175-99611872 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 99605812 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 320
(L320P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023759]
[ENSMUST00000163472]
[ENSMUST00000228984]
[ENSMUST00000229236]
[ENSMUST00000229845]
[ENSMUST00000230530]
|
| AlphaFold |
Q61466 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023759
AA Change: L361P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000023759
Gene: ENSMUSG00000023018
AA Change: L361P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
38 |
N/A |
INTRINSIC |
|
low complexity region
|
103 |
117 |
N/A |
INTRINSIC |
|
Blast:KISc
|
124 |
271 |
2e-43 |
BLAST |
|
SWIB
|
291 |
370 |
1.97e-35 |
SMART |
|
Blast:MYSc
|
452 |
498 |
2e-17 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163472
|
| SMART Domains |
Protein: ENSMUSP00000128823
Gene: ENSMUSG00000091604
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
44 |
78 |
N/A |
INTRINSIC |
|
low complexity region
|
85 |
93 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228984
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000229236
AA Change: L320P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229686
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229845
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229968
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230748
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230504
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230530
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 96.0%
|
| 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. Two 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700047A11Rik |
T |
A |
8: 26,585,815 (GRCm39) |
T63S |
probably benign |
Het |
| Acap3 |
T |
A |
4: 155,984,458 (GRCm39) |
S189T |
possibly damaging |
Het |
| Acsbg2 |
G |
A |
17: 57,160,846 (GRCm39) |
T266I |
probably benign |
Het |
| Cacna1s |
A |
G |
1: 136,035,933 (GRCm39) |
D1144G |
probably damaging |
Het |
| Diaph3 |
T |
C |
14: 87,223,143 (GRCm39) |
D365G |
probably damaging |
Het |
| Dock7 |
T |
A |
4: 98,854,638 (GRCm39) |
D1542V |
probably damaging |
Het |
| Efr3a |
T |
A |
15: 65,717,831 (GRCm39) |
V337D |
probably damaging |
Het |
| Elk3 |
A |
G |
10: 93,101,197 (GRCm39) |
|
probably null |
Het |
| Ercc6 |
T |
C |
14: 32,288,754 (GRCm39) |
L867P |
probably damaging |
Het |
| Gdf6 |
A |
G |
4: 9,859,650 (GRCm39) |
D244G |
probably benign |
Het |
| Get1 |
G |
A |
16: 95,954,176 (GRCm39) |
A92T |
probably benign |
Het |
| Gzmn |
T |
C |
14: 56,404,261 (GRCm39) |
D192G |
possibly damaging |
Het |
| Krt81 |
T |
A |
15: 101,359,193 (GRCm39) |
M242L |
probably benign |
Het |
| Lysmd3 |
C |
T |
13: 81,817,529 (GRCm39) |
Q169* |
probably null |
Het |
| Man2c1 |
A |
G |
9: 57,045,310 (GRCm39) |
D473G |
probably benign |
Het |
| Mmp23 |
C |
T |
4: 155,735,767 (GRCm39) |
R268Q |
probably damaging |
Het |
| Or1j17 |
C |
A |
2: 36,578,734 (GRCm39) |
T240N |
probably damaging |
Het |
| Or5p58 |
T |
A |
7: 107,694,280 (GRCm39) |
I166L |
probably benign |
Het |
| Prmt3 |
G |
T |
7: 49,476,524 (GRCm39) |
A378S |
probably benign |
Het |
| Ptf1a |
C |
T |
2: 19,451,819 (GRCm39) |
L273F |
possibly damaging |
Het |
| Ptpru |
A |
T |
4: 131,503,659 (GRCm39) |
Y1124N |
probably damaging |
Het |
| Rtkn |
T |
G |
6: 83,119,376 (GRCm39) |
M1R |
probably null |
Het |
| Rttn |
T |
A |
18: 88,993,847 (GRCm39) |
F175I |
probably damaging |
Het |
| Slc5a7 |
T |
C |
17: 54,583,886 (GRCm39) |
D468G |
probably benign |
Het |
| Slc9a9 |
A |
G |
9: 95,110,952 (GRCm39) |
Y590C |
probably damaging |
Het |
| Sox2 |
A |
T |
3: 34,704,703 (GRCm39) |
M47L |
probably damaging |
Het |
| Sptan1 |
T |
C |
2: 29,920,037 (GRCm39) |
M2258T |
possibly damaging |
Het |
| Tnrc6b |
T |
A |
15: 80,800,988 (GRCm39) |
D1431E |
probably benign |
Het |
| Trav8n-2 |
A |
T |
14: 53,583,875 (GRCm39) |
T111S |
possibly damaging |
Het |
| Tut4 |
A |
G |
4: 108,405,256 (GRCm39) |
Y1293C |
probably damaging |
Het |
| Zbtb46 |
T |
C |
2: 181,066,148 (GRCm39) |
M1V |
probably null |
Het |
| Zfp7 |
T |
C |
15: 76,775,818 (GRCm39) |
V620A |
probably benign |
Het |
| Zfp804a |
T |
A |
2: 82,083,832 (GRCm39) |
F95I |
probably damaging |
Het |
|
| Other mutations in Smarcd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01516:Smarcd1
|
APN |
15 |
99,610,094 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL01714:Smarcd1
|
APN |
15 |
99,610,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02488:Smarcd1
|
APN |
15 |
99,609,082 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
P0021:Smarcd1
|
UTSW |
15 |
99,610,242 (GRCm39) |
splice site |
probably benign |
|
|
R0597:Smarcd1
|
UTSW |
15 |
99,608,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0645:Smarcd1
|
UTSW |
15 |
99,605,267 (GRCm39) |
splice site |
probably null |
|
|
R1531:Smarcd1
|
UTSW |
15 |
99,605,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1661:Smarcd1
|
UTSW |
15 |
99,605,519 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1857:Smarcd1
|
UTSW |
15 |
99,607,295 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3003:Smarcd1
|
UTSW |
15 |
99,610,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4964:Smarcd1
|
UTSW |
15 |
99,605,862 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5116:Smarcd1
|
UTSW |
15 |
99,600,369 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5358:Smarcd1
|
UTSW |
15 |
99,601,128 (GRCm39) |
nonsense |
probably null |
|
|
R5559:Smarcd1
|
UTSW |
15 |
99,601,176 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6026:Smarcd1
|
UTSW |
15 |
99,603,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6424:Smarcd1
|
UTSW |
15 |
99,602,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6450:Smarcd1
|
UTSW |
15 |
99,605,766 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7126:Smarcd1
|
UTSW |
15 |
99,607,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8476:Smarcd1
|
UTSW |
15 |
99,600,305 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8487:Smarcd1
|
UTSW |
15 |
99,605,657 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8872:Smarcd1
|
UTSW |
15 |
99,608,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0026:Smarcd1
|
UTSW |
15 |
99,600,330 (GRCm39) |
missense |
probably benign |
0.13 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGAGCGAGAGTTTGTTCTC -3'
(R):5'- AGCACACACTCACTGCTCTG -3'
Sequencing Primer
(F):5'- TCTGTGACAAGTACCTCCAGCAG -3'
(R):5'- ACACTCACTGCTCTGTAGGCAG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation