Incidental Mutation 'IGL01477:Smarce1'
| ID |
278521 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Smarce1
|
| Ensembl Gene |
ENSMUSG00000037935 |
| Gene Name |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 |
| Synonyms |
9030408N19Rik, BAF57, 5830412H02Rik, 2810417B20Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01477
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
99099873-99121843 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 99101013 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Glutamic Acid
at position 373
(G373E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099422
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103133]
|
| AlphaFold |
O54941 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000103133
AA Change: G373E
PolyPhen 2
Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000099422
Gene: ENSMUSG00000037935
AA Change: G373E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
23 |
N/A |
INTRINSIC |
|
HMG
|
65 |
135 |
8.37e-15 |
SMART |
|
low complexity region
|
149 |
163 |
N/A |
INTRINSIC |
|
Blast:HMG
|
165 |
205 |
1e-20 |
BLAST |
|
coiled coil region
|
222 |
319 |
N/A |
INTRINSIC |
|
low complexity region
|
395 |
411 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156160
|
| 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 part of the large ATP-dependent chromatin remodeling complex SWI/SNF, which is required for transcriptional activation of genes normally repressed by chromatin. The encoded protein, either alone or when in the SWI/SNF complex, can bind to 4-way junction DNA, which is thought to mimic the topology of DNA as it enters or exits the nucleosome. The protein contains a DNA-binding HMG domain, but disruption of this domain does not abolish the DNA-binding or nucleosome-displacement activities of the SWI/SNF complex. Unlike most of the SWI/SNF complex proteins, this protein has no yeast counterpart. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit prenatal lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armh3 |
A |
G |
19: 45,967,043 (GRCm39) |
F33S |
probably damaging |
Het |
| Aven |
T |
C |
2: 112,460,277 (GRCm39) |
S132P |
probably benign |
Het |
| Cadps2 |
G |
A |
6: 23,263,672 (GRCm39) |
T1233M |
probably damaging |
Het |
| Cdh16 |
T |
C |
8: 105,345,140 (GRCm39) |
E383G |
probably damaging |
Het |
| Cxxc1 |
A |
G |
18: 74,352,985 (GRCm39) |
K432E |
possibly damaging |
Het |
| Elapor2 |
A |
T |
5: 9,487,756 (GRCm39) |
K547N |
probably damaging |
Het |
| Eprs1 |
G |
T |
1: 185,143,572 (GRCm39) |
|
probably benign |
Het |
| Etv4 |
T |
C |
11: 101,667,954 (GRCm39) |
D74G |
possibly damaging |
Het |
| Glb1l |
A |
T |
1: 75,185,350 (GRCm39) |
I120N |
probably damaging |
Het |
| Grpel1 |
G |
A |
5: 36,627,986 (GRCm39) |
R89Q |
probably damaging |
Het |
| Ifi44 |
C |
T |
3: 151,451,635 (GRCm39) |
|
probably benign |
Het |
| Ikzf3 |
T |
C |
11: 98,379,683 (GRCm39) |
H195R |
probably damaging |
Het |
| Mug2 |
A |
G |
6: 122,058,643 (GRCm39) |
|
probably benign |
Het |
| Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
| Or8c17 |
T |
A |
9: 38,180,615 (GRCm39) |
S269T |
possibly damaging |
Het |
| Pcnx1 |
A |
T |
12: 82,020,015 (GRCm39) |
K1346I |
probably damaging |
Het |
| Pcnx2 |
C |
T |
8: 126,512,044 (GRCm39) |
V1421I |
probably damaging |
Het |
| Pnpla8 |
A |
G |
12: 44,330,441 (GRCm39) |
D331G |
probably damaging |
Het |
| Ppp1r3a |
A |
T |
6: 14,718,345 (GRCm39) |
N856K |
probably damaging |
Het |
| Ptk7 |
T |
C |
17: 46,887,806 (GRCm39) |
D542G |
possibly damaging |
Het |
| Slc4a2 |
A |
G |
5: 24,635,154 (GRCm39) |
|
probably benign |
Het |
| Speg |
A |
G |
1: 75,368,541 (GRCm39) |
N697S |
probably damaging |
Het |
| Supt5 |
T |
C |
7: 28,016,689 (GRCm39) |
H731R |
possibly damaging |
Het |
| Tmod2 |
T |
C |
9: 75,502,283 (GRCm39) |
H68R |
probably benign |
Het |
| Vmn2r68 |
A |
C |
7: 84,882,691 (GRCm39) |
C354G |
probably damaging |
Het |
| Zfp277 |
A |
T |
12: 40,370,675 (GRCm39) |
Y425N |
probably benign |
Het |
|
| Other mutations in Smarce1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01448:Smarce1
|
APN |
11 |
99,101,013 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL02256:Smarce1
|
APN |
11 |
99,110,206 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0524:Smarce1
|
UTSW |
11 |
99,104,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4721:Smarce1
|
UTSW |
11 |
99,111,543 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4953:Smarce1
|
UTSW |
11 |
99,105,977 (GRCm39) |
missense |
probably benign |
0.45 |
|
R5002:Smarce1
|
UTSW |
11 |
99,115,889 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7605:Smarce1
|
UTSW |
11 |
99,119,118 (GRCm39) |
missense |
probably benign |
|
|
R8007:Smarce1
|
UTSW |
11 |
99,115,876 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8670:Smarce1
|
UTSW |
11 |
99,101,098 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8977:Smarce1
|
UTSW |
11 |
99,110,511 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9519:Smarce1
|
UTSW |
11 |
99,104,933 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Smarce1
|
UTSW |
11 |
99,100,921 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation