Incidental Mutation 'IGL02399:Smarcb1'
| ID |
291816 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Smarcb1
|
| Ensembl Gene |
ENSMUSG00000000902 |
| Gene Name |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
| Synonyms |
Ini1, SNF5/INI1, Baf47, Snf5, integrase interactor 1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02399
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
75732603-75757448 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 75733328 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 357
(T357A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000925
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000925]
[ENSMUST00000009236]
[ENSMUST00000121304]
[ENSMUST00000140388]
[ENSMUST00000217811]
|
| AlphaFold |
Q9Z0H3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000925
AA Change: T357A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000000925
Gene: ENSMUSG00000000902
AA Change: T357A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:HX
|
31 |
52 |
9e-8 |
BLAST |
|
Pfam:SNF5
|
179 |
254 |
1.1e-27 |
PFAM |
|
Pfam:SNF5
|
249 |
373 |
3.1e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000009236
|
| SMART Domains |
Protein: ENSMUSP00000009236
Gene: ENSMUSG00000009092
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DER1
|
13 |
203 |
7.4e-72 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121304
AA Change: T348A
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112463
Gene: ENSMUSG00000000902
AA Change: T348A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:HX
|
31 |
52 |
9e-8 |
BLAST |
|
Pfam:SNF5
|
169 |
364 |
1.7e-66 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133189
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140388
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140408
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217811
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219568
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218932
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220190
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218506
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219994
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218718
|
| 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 a complex that relieves repressive chromatin structures, allowing the transcriptional machinery to access its targets more effectively. The encoded nuclear protein may also bind to and enhance the DNA joining activity of HIV-1 integrase. This gene has been found to be a tumor suppressor, and mutations in it have been associated with malignant rhabdoid tumors. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygous inactivation of this gene leads to peri-implantation lethality, likely due to an inability of the blastocysts to hatch and implant in the uterus. A subset of heterozygous null mice develop a variety of tumors in the soft tissues of the head and neck. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd12 |
C |
T |
2: 150,700,413 (GRCm39) |
|
probably benign |
Het |
| Adarb1 |
G |
A |
10: 77,131,588 (GRCm39) |
P624S |
probably benign |
Het |
| Afg3l2 |
A |
T |
18: 67,562,110 (GRCm39) |
F322I |
possibly damaging |
Het |
| Arhgap23 |
A |
G |
11: 97,381,831 (GRCm39) |
|
probably benign |
Het |
| Atp13a1 |
A |
G |
8: 70,259,751 (GRCm39) |
N1114S |
probably damaging |
Het |
| C3ar1 |
T |
C |
6: 122,826,838 (GRCm39) |
N460D |
probably benign |
Het |
| Cacna1e |
A |
G |
1: 154,279,493 (GRCm39) |
Y1988H |
probably damaging |
Het |
| Calr |
T |
C |
8: 85,569,415 (GRCm39) |
|
probably benign |
Het |
| D5Ertd579e |
A |
G |
5: 36,773,529 (GRCm39) |
S289P |
probably damaging |
Het |
| Erbb4 |
G |
A |
1: 68,081,596 (GRCm39) |
|
probably benign |
Het |
| Fam98a |
A |
G |
17: 75,845,936 (GRCm39) |
|
probably benign |
Het |
| Gm3739 |
A |
T |
14: 18,505,274 (GRCm39) |
D83E |
possibly damaging |
Het |
| Gm5420 |
A |
T |
10: 21,567,071 (GRCm39) |
|
noncoding transcript |
Het |
| Heatr5b |
A |
G |
17: 79,135,396 (GRCm39) |
V245A |
probably damaging |
Het |
| Kptn |
C |
A |
7: 15,861,038 (GRCm39) |
|
probably benign |
Het |
| Llgl2 |
T |
C |
11: 115,735,661 (GRCm39) |
C86R |
probably damaging |
Het |
| Lrr1 |
T |
A |
12: 69,215,665 (GRCm39) |
C12* |
probably null |
Het |
| Mcf2 |
T |
C |
X: 59,180,812 (GRCm39) |
D255G |
probably damaging |
Het |
| Med13 |
A |
T |
11: 86,174,771 (GRCm39) |
|
probably benign |
Het |
| Mthfd1 |
C |
T |
12: 76,364,406 (GRCm39) |
T735M |
probably damaging |
Het |
| Nlrp2 |
C |
T |
7: 5,331,809 (GRCm39) |
A196T |
probably damaging |
Het |
| Nnmt |
T |
C |
9: 48,514,838 (GRCm39) |
I60V |
probably damaging |
Het |
| Odad2 |
G |
T |
18: 7,285,719 (GRCm39) |
Q215K |
probably benign |
Het |
| Or4c110 |
T |
A |
2: 88,832,507 (GRCm39) |
T42S |
probably benign |
Het |
| Or6ae1 |
A |
T |
7: 139,742,513 (GRCm39) |
S117T |
probably benign |
Het |
| P2rx3 |
T |
C |
2: 84,853,571 (GRCm39) |
I140V |
probably benign |
Het |
| Patj |
A |
G |
4: 98,480,173 (GRCm39) |
N1293D |
probably damaging |
Het |
| Pitpnm2 |
G |
A |
5: 124,278,821 (GRCm39) |
|
probably benign |
Het |
| Ppp1r26 |
T |
G |
2: 28,343,292 (GRCm39) |
V974G |
probably benign |
Het |
| Prrc2b |
T |
A |
2: 32,116,973 (GRCm39) |
L1376* |
probably null |
Het |
| Rab33a |
T |
A |
X: 47,608,584 (GRCm39) |
I36N |
probably damaging |
Het |
| Rab3gap1 |
A |
T |
1: 127,855,840 (GRCm39) |
N493I |
possibly damaging |
Het |
| Scara3 |
C |
A |
14: 66,170,559 (GRCm39) |
G107* |
probably null |
Het |
| Siglec1 |
T |
C |
2: 130,913,098 (GRCm39) |
E1606G |
probably benign |
Het |
| Skint9 |
A |
T |
4: 112,246,447 (GRCm39) |
Y222N |
possibly damaging |
Het |
| Slc47a1 |
A |
T |
11: 61,253,884 (GRCm39) |
I185N |
probably damaging |
Het |
| Slc47a2 |
C |
A |
11: 61,193,020 (GRCm39) |
|
probably benign |
Het |
| Slc4a2 |
A |
G |
5: 24,639,711 (GRCm39) |
I506V |
probably damaging |
Het |
| Slc9a4 |
A |
C |
1: 40,639,942 (GRCm39) |
I245L |
probably benign |
Het |
| Spata31d1d |
A |
G |
13: 59,877,954 (GRCm39) |
|
probably benign |
Het |
| Stox2 |
T |
A |
8: 47,639,573 (GRCm39) |
I874F |
probably damaging |
Het |
| Taar7b |
A |
T |
10: 23,876,050 (GRCm39) |
I72F |
probably damaging |
Het |
| Tacc2 |
G |
A |
7: 130,225,129 (GRCm39) |
V605I |
probably benign |
Het |
| Tef |
T |
C |
15: 81,699,301 (GRCm39) |
L34P |
probably damaging |
Het |
| Trak2 |
A |
G |
1: 58,949,204 (GRCm39) |
V532A |
probably benign |
Het |
| Usp13 |
T |
A |
3: 32,973,209 (GRCm39) |
D795E |
probably damaging |
Het |
| Vmn1r32 |
T |
A |
6: 66,529,913 (GRCm39) |
I288F |
probably benign |
Het |
| Vmn1r75 |
T |
C |
7: 11,615,093 (GRCm39) |
I275T |
possibly damaging |
Het |
| Zfp871 |
A |
T |
17: 32,993,329 (GRCm39) |
F615L |
probably benign |
Het |
| Zfp941 |
G |
A |
7: 140,392,612 (GRCm39) |
T249M |
probably benign |
Het |
| Zhx1 |
T |
C |
15: 57,917,137 (GRCm39) |
I370V |
probably damaging |
Het |
|
| Other mutations in Smarcb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01533:Smarcb1
|
APN |
10 |
75,752,602 (GRCm39) |
splice site |
probably null |
|
|
IGL02457:Smarcb1
|
APN |
10 |
75,757,205 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0505:Smarcb1
|
UTSW |
10 |
75,732,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1120:Smarcb1
|
UTSW |
10 |
75,757,157 (GRCm39) |
missense |
probably benign |
|
|
R2846:Smarcb1
|
UTSW |
10 |
75,733,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3725:Smarcb1
|
UTSW |
10 |
75,752,620 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5089:Smarcb1
|
UTSW |
10 |
75,751,013 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5157:Smarcb1
|
UTSW |
10 |
75,747,628 (GRCm39) |
intron |
probably benign |
|
|
R5632:Smarcb1
|
UTSW |
10 |
75,740,252 (GRCm39) |
nonsense |
probably null |
|
|
R5662:Smarcb1
|
UTSW |
10 |
75,740,404 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7472:Smarcb1
|
UTSW |
10 |
75,733,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8112:Smarcb1
|
UTSW |
10 |
75,745,986 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9151:Smarcb1
|
UTSW |
10 |
75,750,916 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Smarcb1
|
UTSW |
10 |
75,741,911 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Smarcb1
|
UTSW |
10 |
75,740,345 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation