Incidental Mutation 'R2033:Tmem132b'
ID |
221470 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem132b
|
Ensembl Gene |
ENSMUSG00000070498 |
Gene Name |
transmembrane protein 132B |
Synonyms |
|
MMRRC Submission |
040040-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.092)
|
Stock # |
R2033 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
125609449-125869647 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 125826353 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Phenylalanine
at position 448
(V448F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031446
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031446]
|
AlphaFold |
F7BAB2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031446
AA Change: V448F
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000031446 Gene: ENSMUSG00000070498 AA Change: V448F
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 |
|
Meta Mutation Damage Score |
0.2402 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.5%
|
Validation Efficiency |
96% (53/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl3 |
T |
C |
4: 144,182,953 (GRCm39) |
T172A |
probably benign |
Het |
Atp6v1c1 |
T |
C |
15: 38,674,210 (GRCm39) |
|
probably null |
Het |
Bpifc |
G |
A |
10: 85,836,496 (GRCm39) |
T3I |
possibly damaging |
Het |
Car12 |
A |
G |
9: 66,624,840 (GRCm39) |
|
probably null |
Het |
Ccrl2 |
A |
G |
9: 110,884,938 (GRCm39) |
F187L |
possibly damaging |
Het |
Cep250 |
G |
A |
2: 155,812,812 (GRCm39) |
R544H |
probably damaging |
Het |
Col4a3 |
T |
G |
1: 82,695,732 (GRCm39) |
|
probably benign |
Het |
Cyb5r2 |
T |
C |
7: 107,356,114 (GRCm39) |
|
probably null |
Het |
Elfn2 |
A |
G |
15: 78,556,096 (GRCm39) |
V817A |
probably damaging |
Het |
Eln |
C |
T |
5: 134,738,960 (GRCm39) |
|
probably null |
Het |
Eml5 |
T |
C |
12: 98,757,645 (GRCm39) |
E1896G |
possibly damaging |
Het |
G530012D18Rik |
CACAGA |
CA |
1: 85,504,875 (GRCm39) |
|
probably null |
Het |
Galnt11 |
C |
T |
5: 25,452,536 (GRCm39) |
T16I |
probably damaging |
Het |
Gars1 |
C |
T |
6: 55,054,708 (GRCm39) |
H672Y |
probably benign |
Het |
Gpr155 |
T |
A |
2: 73,178,526 (GRCm39) |
H726L |
probably benign |
Het |
Inpp1 |
T |
A |
1: 52,829,332 (GRCm39) |
N229I |
possibly damaging |
Het |
Isg20 |
A |
C |
7: 78,566,281 (GRCm39) |
I77L |
probably damaging |
Het |
Kit |
G |
C |
5: 75,797,977 (GRCm39) |
D422H |
possibly damaging |
Het |
Lonp2 |
A |
G |
8: 87,435,570 (GRCm39) |
E602G |
possibly damaging |
Het |
Mink1 |
T |
C |
11: 70,503,334 (GRCm39) |
V1143A |
probably damaging |
Het |
Myh6 |
A |
C |
14: 55,201,102 (GRCm39) |
L120R |
probably benign |
Het |
Myo18a |
T |
A |
11: 77,733,925 (GRCm39) |
|
probably null |
Het |
Nphs2 |
T |
C |
1: 156,151,308 (GRCm39) |
V249A |
probably damaging |
Het |
Npsr1 |
A |
G |
9: 24,224,648 (GRCm39) |
K342E |
probably benign |
Het |
Nrros |
C |
T |
16: 31,962,975 (GRCm39) |
W311* |
probably null |
Het |
Nudt18 |
G |
T |
14: 70,817,056 (GRCm39) |
G162V |
possibly damaging |
Het |
Odam |
A |
G |
5: 88,040,278 (GRCm39) |
D248G |
probably benign |
Het |
Or1e30 |
T |
C |
11: 73,678,264 (GRCm39) |
S167P |
probably benign |
Het |
Or4c119 |
A |
G |
2: 88,987,498 (GRCm39) |
V7A |
probably damaging |
Het |
Or51d1 |
A |
G |
7: 102,348,369 (GRCm39) |
E308G |
probably benign |
Het |
Or51h5 |
T |
C |
7: 102,577,615 (GRCm39) |
V260A |
probably benign |
Het |
Or8b3 |
G |
T |
9: 38,314,669 (GRCm39) |
M166I |
probably damaging |
Het |
Pde4b |
G |
T |
4: 102,462,492 (GRCm39) |
D723Y |
probably benign |
Het |
Pdzrn3 |
T |
C |
6: 101,127,915 (GRCm39) |
E917G |
probably damaging |
Het |
Ppip5k1 |
C |
T |
2: 121,168,108 (GRCm39) |
R715H |
probably damaging |
Het |
Prkdc |
T |
A |
16: 15,505,216 (GRCm39) |
|
probably benign |
Het |
Ptp4a3 |
A |
G |
15: 73,625,618 (GRCm39) |
Y21C |
probably damaging |
Het |
Ptprk |
C |
A |
10: 28,468,763 (GRCm39) |
|
probably benign |
Het |
Rfesd |
C |
A |
13: 76,150,991 (GRCm39) |
|
probably null |
Het |
Rtel1 |
A |
T |
2: 180,993,656 (GRCm39) |
K592* |
probably null |
Het |
Siah1a |
T |
A |
8: 87,451,898 (GRCm39) |
K195N |
probably damaging |
Het |
Slc5a5 |
G |
T |
8: 71,341,231 (GRCm39) |
D369E |
probably damaging |
Het |
Slc6a6 |
A |
T |
6: 91,701,891 (GRCm39) |
I100F |
probably benign |
Het |
Smtn |
T |
C |
11: 3,467,781 (GRCm39) |
I913V |
probably benign |
Het |
Stk17b |
A |
G |
1: 53,800,235 (GRCm39) |
S248P |
probably damaging |
Het |
Sun1 |
C |
T |
5: 139,211,193 (GRCm39) |
H149Y |
probably damaging |
Het |
Taar5 |
T |
C |
10: 23,846,992 (GRCm39) |
I130T |
possibly damaging |
Het |
Tmem94 |
C |
A |
11: 115,685,154 (GRCm39) |
N888K |
possibly damaging |
Het |
Trpc1 |
T |
C |
9: 95,588,896 (GRCm39) |
N742S |
probably damaging |
Het |
Ttbk2 |
T |
C |
2: 120,637,330 (GRCm39) |
T112A |
probably damaging |
Het |
Tubb2a |
A |
T |
13: 34,259,439 (GRCm39) |
L117Q |
probably damaging |
Het |
Vmn1r60 |
T |
A |
7: 5,547,819 (GRCm39) |
M94L |
probably benign |
Het |
Vmn2r83 |
A |
G |
10: 79,327,653 (GRCm39) |
T754A |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATATTCCTAACAGAAGTCCAGGTG -3'
(R):5'- AGCGAGGTCACTTTCCCTTC -3'
Sequencing Primer
(F):5'- TGGCAGGTGGCTGTCCATC -3'
(R):5'- TTCCCTTCCTTTAAACAGAGGAAC -3'
|
Posted On |
2014-08-25 |