Incidental Mutation 'R9436:Tmem132b'
| ID |
713276 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem132b
|
| Ensembl Gene |
ENSMUSG00000070498 |
| Gene Name |
transmembrane protein 132B |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
R9436 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
125609449-125869647 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 125775633 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 369
(N369S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031446
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031446]
|
| AlphaFold |
F7BAB2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031446
AA Change: N369S
PolyPhen 2
Score 0.527 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000031446
Gene: ENSMUSG00000070498
AA Change: N369S
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
A |
G |
19: 31,909,975 (GRCm39) |
T340A |
probably benign |
Het |
| Adamts2 |
G |
T |
11: 50,694,507 (GRCm39) |
R1098L |
probably benign |
Het |
| Add1 |
A |
T |
5: 34,763,273 (GRCm39) |
R154* |
probably null |
Het |
| Alpk1 |
A |
G |
3: 127,478,924 (GRCm39) |
V41A |
|
Het |
| Anapc1 |
T |
C |
2: 128,518,045 (GRCm39) |
T270A |
probably benign |
Het |
| Ankhd1 |
C |
A |
18: 36,694,041 (GRCm39) |
A84D |
probably benign |
Het |
| Ankhd1 |
T |
A |
18: 36,774,654 (GRCm39) |
C1412S |
probably benign |
Het |
| Ccdc93 |
C |
T |
1: 121,369,584 (GRCm39) |
Q109* |
probably null |
Het |
| Chrm5 |
T |
C |
2: 112,309,824 (GRCm39) |
R431G |
possibly damaging |
Het |
| Clxn |
T |
A |
16: 14,735,541 (GRCm39) |
C84* |
probably null |
Het |
| Dnah14 |
A |
C |
1: 181,508,348 (GRCm39) |
E1842A |
probably damaging |
Het |
| Dync1h1 |
T |
C |
12: 110,582,975 (GRCm39) |
L386P |
probably damaging |
Het |
| Eme1 |
G |
A |
11: 94,538,507 (GRCm39) |
Q393* |
probably null |
Het |
| Hinfp |
A |
T |
9: 44,209,276 (GRCm39) |
Y308N |
probably damaging |
Het |
| Hnrnph3 |
T |
A |
10: 62,854,627 (GRCm39) |
R55* |
probably null |
Het |
| Ifi44 |
T |
C |
3: 151,454,886 (GRCm39) |
D113G |
probably benign |
Het |
| Katnal1 |
A |
T |
5: 148,815,761 (GRCm39) |
L392H |
probably damaging |
Het |
| Kcnk12 |
C |
A |
17: 88,104,880 (GRCm39) |
M1I |
probably null |
Het |
| Krt17 |
T |
A |
11: 100,148,325 (GRCm39) |
D372V |
probably damaging |
Het |
| Mrtfb |
T |
A |
16: 13,223,151 (GRCm39) |
Y796* |
probably null |
Het |
| Myo3a |
T |
A |
2: 22,412,235 (GRCm39) |
Y751* |
probably null |
Het |
| Ndrg3 |
C |
A |
2: 156,782,276 (GRCm39) |
|
probably null |
Het |
| Nfkbib |
C |
A |
7: 28,465,800 (GRCm39) |
W16C |
probably damaging |
Het |
| Nlrp14 |
T |
C |
7: 106,781,106 (GRCm39) |
V101A |
probably benign |
Het |
| Npy5r |
A |
G |
8: 67,133,483 (GRCm39) |
S437P |
probably damaging |
Het |
| Or6c75 |
T |
C |
10: 129,336,969 (GRCm39) |
F64S |
probably damaging |
Het |
| Pcdhga3 |
G |
A |
18: 37,808,144 (GRCm39) |
R199H |
probably damaging |
Het |
| Pi4ka |
T |
A |
16: 17,125,670 (GRCm39) |
H1155L |
|
Het |
| Rbp3 |
A |
G |
14: 33,677,234 (GRCm39) |
D394G |
possibly damaging |
Het |
| Rnmt |
T |
A |
18: 68,442,410 (GRCm39) |
V180E |
probably damaging |
Het |
| Rpl3l |
A |
T |
17: 24,947,300 (GRCm39) |
K5* |
probably null |
Het |
| Rps6ka1 |
A |
T |
4: 133,575,963 (GRCm39) |
V652E |
probably damaging |
Het |
| Slc7a1 |
A |
T |
5: 148,270,730 (GRCm39) |
W579R |
probably damaging |
Het |
| Smr2l |
A |
G |
5: 88,430,257 (GRCm39) |
D51G |
possibly damaging |
Het |
| Smyd4 |
T |
A |
11: 75,293,017 (GRCm39) |
L649Q |
probably damaging |
Het |
| Snx19 |
A |
G |
9: 30,374,602 (GRCm39) |
R954G |
possibly damaging |
Het |
| Sp4 |
T |
C |
12: 118,202,000 (GRCm39) |
E744G |
possibly damaging |
Het |
| Spag16 |
C |
T |
1: 69,892,539 (GRCm39) |
L107F |
probably damaging |
Het |
| Stk36 |
A |
G |
1: 74,650,272 (GRCm39) |
D268G |
probably benign |
Het |
| Tat |
G |
T |
8: 110,718,492 (GRCm39) |
G85W |
probably damaging |
Het |
| Tchp |
G |
T |
5: 114,847,446 (GRCm39) |
E88D |
probably benign |
Het |
| Tmf1 |
T |
C |
6: 97,153,617 (GRCm39) |
D152G |
probably benign |
Het |
| Ttc7 |
T |
C |
17: 87,600,320 (GRCm39) |
Y145H |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,772,263 (GRCm39) |
I2592M |
unknown |
Het |
| Unc80 |
T |
G |
1: 66,732,964 (GRCm39) |
|
probably null |
Het |
| Vmn2r26 |
T |
C |
6: 124,002,826 (GRCm39) |
Y79H |
probably damaging |
Het |
| Whamm |
G |
T |
7: 81,221,063 (GRCm39) |
|
probably benign |
Het |
| Zfp184 |
A |
G |
13: 22,133,898 (GRCm39) |
I48M |
probably benign |
Het |
| Zfp974 |
A |
T |
7: 27,611,094 (GRCm39) |
F210L |
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 |
|
|
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 |
|
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'- CCGGAAACTCAATAAAGAGCATTTC -3'
(R):5'- GTTTCCTTACCATGGTGAGAGG -3'
Sequencing Primer
(F):5'- CTTTAGGGAAGGGTTGCACACC -3'
(R):5'- CCTTACCATGGTGAGAGGGACAATG -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation