Incidental Mutation 'IGL02542:Tmem132b'
| ID |
297717 |
| 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: 0.092)
|
| Stock # |
IGL02542
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
125609449-125869647 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 125699558 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Proline
at position 73
(Q73P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139013
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031446]
[ENSMUST00000185104]
|
| AlphaFold |
F7BAB2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031446
AA Change: Q32P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000031446
Gene: ENSMUSG00000070498
AA Change: Q32P
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184422
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000185104
AA Change: Q73P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahsa2 |
T |
A |
11: 23,440,559 (GRCm39) |
T231S |
possibly damaging |
Het |
| Arfgef1 |
A |
G |
1: 10,243,067 (GRCm39) |
L1091P |
probably benign |
Het |
| Arhgap32 |
A |
T |
9: 32,166,944 (GRCm39) |
K527M |
probably damaging |
Het |
| Caap1 |
T |
C |
4: 94,438,742 (GRCm39) |
N149S |
probably benign |
Het |
| Cc2d2a |
A |
G |
5: 43,846,252 (GRCm39) |
|
probably benign |
Het |
| Cdk13 |
A |
T |
13: 17,902,763 (GRCm39) |
I929K |
probably damaging |
Het |
| Fan1 |
A |
G |
7: 64,014,408 (GRCm39) |
Y608H |
probably damaging |
Het |
| Foxj3 |
A |
G |
4: 119,477,540 (GRCm39) |
N416S |
unknown |
Het |
| Gm20547 |
T |
C |
17: 35,076,236 (GRCm39) |
S1151G |
possibly damaging |
Het |
| Ighv1-80 |
A |
T |
12: 115,876,199 (GRCm39) |
I39N |
probably damaging |
Het |
| Igkv11-125 |
A |
C |
6: 67,890,991 (GRCm39) |
E102A |
probably damaging |
Het |
| Mdc1 |
C |
A |
17: 36,164,048 (GRCm39) |
P1199T |
probably damaging |
Het |
| Negr1 |
T |
C |
3: 156,267,862 (GRCm39) |
S11P |
probably damaging |
Het |
| Oxsr1 |
T |
C |
9: 119,071,801 (GRCm39) |
R477G |
possibly damaging |
Het |
| Pappa |
T |
A |
4: 65,094,518 (GRCm39) |
F514L |
probably damaging |
Het |
| Pde6c |
G |
T |
19: 38,166,578 (GRCm39) |
D707Y |
probably damaging |
Het |
| Phtf1 |
T |
C |
3: 103,901,222 (GRCm39) |
|
probably benign |
Het |
| Piezo2 |
T |
A |
18: 63,165,995 (GRCm39) |
I2079F |
probably damaging |
Het |
| Ptprm |
T |
C |
17: 67,227,145 (GRCm39) |
D668G |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,498,416 (GRCm39) |
Y887C |
probably damaging |
Het |
| Rax |
T |
C |
18: 66,071,701 (GRCm39) |
E62G |
possibly damaging |
Het |
| Rnf25 |
T |
C |
1: 74,633,260 (GRCm39) |
E364G |
probably benign |
Het |
| Sipa1l3 |
A |
T |
7: 29,087,490 (GRCm39) |
D578E |
probably damaging |
Het |
| Slc14a2 |
T |
G |
18: 78,252,302 (GRCm39) |
D3A |
probably benign |
Het |
| Slc28a3 |
A |
G |
13: 58,721,284 (GRCm39) |
Y294H |
probably damaging |
Het |
| Slit1 |
T |
C |
19: 41,615,687 (GRCm39) |
T811A |
probably damaging |
Het |
| Sorcs2 |
T |
C |
5: 36,183,286 (GRCm39) |
T996A |
probably damaging |
Het |
| Tnrc6b |
T |
A |
15: 80,786,553 (GRCm39) |
I1275N |
possibly damaging |
Het |
| Vasp |
A |
T |
7: 18,998,705 (GRCm39) |
D17E |
probably damaging |
Het |
| Wdr19 |
A |
G |
5: 65,388,414 (GRCm39) |
T700A |
probably benign |
Het |
| Ythdc2 |
T |
G |
18: 44,973,308 (GRCm39) |
L315W |
probably damaging |
Het |
| Zfp385c |
A |
G |
11: 100,520,742 (GRCm39) |
V306A |
probably damaging |
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 |
|
IGL02652:Tmem132b
|
APN |
5 |
125,864,639 (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