Incidental Mutation 'IGL02652:Tmem132b'
| ID |
302185 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmem132b
|
| Ensembl Gene |
ENSMUSG00000070498 |
| Gene Name |
transmembrane protein 132B |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
IGL02652
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
125609449-125869647 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 125864639 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 915
(F915S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031446
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031446]
|
| AlphaFold |
F7BAB2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031446
AA Change: F915S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031446
Gene: ENSMUSG00000070498
AA Change: F915S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:TMEM132D_N
|
44 |
173 |
2.9e-53 |
PFAM |
|
Pfam:TMEM132
|
432 |
774 |
5.9e-145 |
PFAM |
|
Pfam:TMEM132D_C
|
870 |
953 |
1.3e-36 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap28 |
A |
T |
17: 68,191,795 (GRCm39) |
D139E |
probably benign |
Het |
| Asph |
C |
T |
4: 9,529,984 (GRCm39) |
V347I |
probably benign |
Het |
| Ccdc138 |
A |
T |
10: 58,348,901 (GRCm39) |
D149V |
probably benign |
Het |
| Cep192 |
A |
G |
18: 67,991,921 (GRCm39) |
|
probably benign |
Het |
| Cnnm2 |
G |
A |
19: 46,751,650 (GRCm39) |
R480Q |
probably damaging |
Het |
| Col24a1 |
C |
A |
3: 145,198,056 (GRCm39) |
S1321* |
probably null |
Het |
| Cops6 |
T |
G |
5: 138,159,700 (GRCm39) |
|
probably null |
Het |
| Crim1 |
G |
A |
17: 78,623,106 (GRCm39) |
A435T |
probably damaging |
Het |
| Cttn |
G |
T |
7: 143,995,468 (GRCm39) |
Q382K |
probably benign |
Het |
| Dhx38 |
A |
G |
8: 110,282,761 (GRCm39) |
L635P |
probably damaging |
Het |
| Dmtf1 |
T |
A |
5: 9,171,853 (GRCm39) |
T458S |
probably benign |
Het |
| Dnah5 |
T |
C |
15: 28,366,333 (GRCm39) |
F2682S |
probably damaging |
Het |
| Dnah6 |
T |
A |
6: 73,072,087 (GRCm39) |
Q2413L |
probably damaging |
Het |
| Dock10 |
T |
C |
1: 80,570,561 (GRCm39) |
|
probably null |
Het |
| Engase |
C |
T |
11: 118,369,776 (GRCm39) |
P63S |
probably damaging |
Het |
| Grik4 |
A |
G |
9: 42,586,573 (GRCm39) |
V94A |
possibly damaging |
Het |
| Heatr6 |
T |
C |
11: 83,660,558 (GRCm39) |
V566A |
probably damaging |
Het |
| Hydin |
A |
C |
8: 111,316,154 (GRCm39) |
T4349P |
possibly damaging |
Het |
| Inpp4b |
G |
A |
8: 82,497,429 (GRCm39) |
|
probably benign |
Het |
| Mertk |
A |
G |
2: 128,643,190 (GRCm39) |
E863G |
probably benign |
Het |
| Muc19 |
T |
A |
15: 91,762,009 (GRCm39) |
|
noncoding transcript |
Het |
| Myo9a |
T |
A |
9: 59,771,211 (GRCm39) |
F928I |
probably damaging |
Het |
| Nyap2 |
T |
C |
1: 81,219,435 (GRCm39) |
Y486H |
probably damaging |
Het |
| Oas1e |
T |
C |
5: 120,933,470 (GRCm39) |
R32G |
probably damaging |
Het |
| Or14j2 |
A |
T |
17: 37,885,836 (GRCm39) |
Y159* |
probably null |
Het |
| Or4k48 |
A |
G |
2: 111,475,839 (GRCm39) |
F168L |
probably benign |
Het |
| Osbpl6 |
G |
A |
2: 76,423,798 (GRCm39) |
R848Q |
probably damaging |
Het |
| Piezo2 |
G |
A |
18: 63,157,546 (GRCm39) |
T2388I |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,600,951 (GRCm39) |
T2871A |
probably benign |
Het |
| Ptpn12 |
T |
C |
5: 21,207,435 (GRCm39) |
K308E |
probably benign |
Het |
| Rgsl1 |
A |
G |
1: 153,701,236 (GRCm39) |
L441P |
probably damaging |
Het |
| Rictor |
T |
C |
15: 6,805,668 (GRCm39) |
|
probably null |
Het |
| Scn2a |
T |
A |
2: 65,532,382 (GRCm39) |
S665T |
possibly damaging |
Het |
| Scn8a |
A |
G |
15: 100,911,357 (GRCm39) |
I926V |
probably damaging |
Het |
| Snrpg |
T |
C |
6: 86,353,510 (GRCm39) |
I30T |
probably damaging |
Het |
| Spryd3 |
A |
T |
15: 102,027,425 (GRCm39) |
|
probably null |
Het |
| Svil |
A |
G |
18: 5,114,531 (GRCm39) |
D2036G |
probably damaging |
Het |
| Synj2 |
A |
T |
17: 6,067,868 (GRCm39) |
I551F |
probably damaging |
Het |
| Tiam2 |
A |
T |
17: 3,489,971 (GRCm39) |
|
probably benign |
Het |
| Try5 |
C |
A |
6: 41,288,342 (GRCm39) |
V204L |
probably benign |
Het |
| Vmn2r6 |
T |
C |
3: 64,463,749 (GRCm39) |
T362A |
probably benign |
Het |
|
| Other mutations in Tmem132b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01397:Tmem132b
|
APN |
5 |
125,775,792 (GRCm39) |
missense |
probably benign |
|
|
IGL01518:Tmem132b
|
APN |
5 |
125,855,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02542:Tmem132b
|
APN |
5 |
125,699,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02671:Tmem132b
|
APN |
5 |
125,855,791 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02951:Tmem132b
|
APN |
5 |
125,864,611 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0456:Tmem132b
|
UTSW |
5 |
125,864,788 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0462:Tmem132b
|
UTSW |
5 |
125,862,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0724:Tmem132b
|
UTSW |
5 |
125,860,485 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1137:Tmem132b
|
UTSW |
5 |
125,860,606 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1168:Tmem132b
|
UTSW |
5 |
125,864,083 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1418:Tmem132b
|
UTSW |
5 |
125,715,313 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1689:Tmem132b
|
UTSW |
5 |
125,864,678 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1744:Tmem132b
|
UTSW |
5 |
125,855,908 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1835:Tmem132b
|
UTSW |
5 |
125,862,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2016:Tmem132b
|
UTSW |
5 |
125,700,080 (GRCm39) |
missense |
probably benign |
|
|
R2033:Tmem132b
|
UTSW |
5 |
125,826,353 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2097:Tmem132b
|
UTSW |
5 |
125,715,272 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2114:Tmem132b
|
UTSW |
5 |
125,699,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2116:Tmem132b
|
UTSW |
5 |
125,699,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2117:Tmem132b
|
UTSW |
5 |
125,699,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2870:Tmem132b
|
UTSW |
5 |
125,715,332 (GRCm39) |
missense |
probably benign |
|
|
R2870:Tmem132b
|
UTSW |
5 |
125,715,332 (GRCm39) |
missense |
probably benign |
|
|
R3807:Tmem132b
|
UTSW |
5 |
125,864,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4825:Tmem132b
|
UTSW |
5 |
125,860,497 (GRCm39) |
missense |
probably benign |
|
|
R5149:Tmem132b
|
UTSW |
5 |
125,699,989 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5484:Tmem132b
|
UTSW |
5 |
125,864,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5623:Tmem132b
|
UTSW |
5 |
125,700,416 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5624:Tmem132b
|
UTSW |
5 |
125,699,710 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5775:Tmem132b
|
UTSW |
5 |
125,715,394 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7012:Tmem132b
|
UTSW |
5 |
125,775,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7142:Tmem132b
|
UTSW |
5 |
125,699,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7308:Tmem132b
|
UTSW |
5 |
125,864,710 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7414:Tmem132b
|
UTSW |
5 |
125,864,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7452:Tmem132b
|
UTSW |
5 |
125,715,332 (GRCm39) |
missense |
probably benign |
|
|
R7650:Tmem132b
|
UTSW |
5 |
125,864,074 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8111:Tmem132b
|
UTSW |
5 |
125,699,857 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8326:Tmem132b
|
UTSW |
5 |
125,864,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8525:Tmem132b
|
UTSW |
5 |
125,715,380 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8900:Tmem132b
|
UTSW |
5 |
125,855,884 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9147:Tmem132b
|
UTSW |
5 |
125,864,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9148:Tmem132b
|
UTSW |
5 |
125,864,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9179:Tmem132b
|
UTSW |
5 |
125,700,115 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9215:Tmem132b
|
UTSW |
5 |
125,864,180 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9231:Tmem132b
|
UTSW |
5 |
125,860,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9284:Tmem132b
|
UTSW |
5 |
125,864,711 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9311:Tmem132b
|
UTSW |
5 |
125,863,029 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9436:Tmem132b
|
UTSW |
5 |
125,775,633 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9484:Tmem132b
|
UTSW |
5 |
125,860,420 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9775:Tmem132b
|
UTSW |
5 |
125,864,566 (GRCm39) |
missense |
probably benign |
0.07 |
|
Z1176:Tmem132b
|
UTSW |
5 |
125,864,950 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
| Posted On |
2015-04-16 |
Incidental Mutation