Incidental Mutation 'R5149:Tmem132b'
ID |
395243 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem132b
|
Ensembl Gene |
ENSMUSG00000070498 |
Gene Name |
transmembrane protein 132B |
Synonyms |
|
MMRRC Submission |
042732-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.092)
|
Stock # |
R5149 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
125609449-125869647 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 125699989 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 176
(S176G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031446
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031446]
[ENSMUST00000185104]
|
AlphaFold |
F7BAB2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031446
AA Change: S176G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000031446 Gene: ENSMUSG00000070498 AA Change: S176G
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 benign
Transcript: ENSMUST00000185104
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahsg |
A |
G |
16: 22,717,673 (GRCm39) |
T245A |
probably benign |
Het |
Akr1c13 |
G |
T |
13: 4,244,168 (GRCm39) |
V74L |
probably benign |
Het |
Amt |
G |
A |
9: 108,178,650 (GRCm39) |
V389I |
possibly damaging |
Het |
Ankrd26 |
T |
C |
6: 118,535,957 (GRCm39) |
N159S |
probably benign |
Het |
Atp1a4 |
A |
G |
1: 172,059,572 (GRCm39) |
I840T |
probably damaging |
Het |
Capn1 |
T |
C |
19: 6,040,364 (GRCm39) |
|
probably null |
Het |
Col27a1 |
T |
C |
4: 63,249,664 (GRCm39) |
|
probably benign |
Het |
Cyp2j5 |
A |
G |
4: 96,547,744 (GRCm39) |
L166P |
probably damaging |
Het |
D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
Dchs1 |
G |
A |
7: 105,404,865 (GRCm39) |
T2559I |
probably damaging |
Het |
Dnah12 |
C |
A |
14: 26,572,883 (GRCm39) |
S258* |
probably null |
Het |
Dpep1 |
A |
T |
8: 123,927,177 (GRCm39) |
T309S |
probably benign |
Het |
Epha5 |
A |
T |
5: 84,298,217 (GRCm39) |
F559L |
probably damaging |
Het |
Gm3409 |
T |
C |
5: 146,474,571 (GRCm39) |
I29T |
possibly damaging |
Het |
Grhl1 |
CAGAAGAAG |
CAGAAG |
12: 24,662,178 (GRCm39) |
|
probably benign |
Het |
Gtf3c1 |
G |
T |
7: 125,267,209 (GRCm39) |
R941S |
probably damaging |
Het |
Helb |
C |
T |
10: 119,941,648 (GRCm39) |
E347K |
probably benign |
Het |
Ighv14-3 |
A |
G |
12: 114,023,710 (GRCm39) |
S36P |
probably damaging |
Het |
Klrb1c |
T |
A |
6: 128,760,670 (GRCm39) |
M211L |
probably benign |
Het |
Larp7 |
C |
T |
3: 127,334,460 (GRCm39) |
E510K |
probably damaging |
Het |
Lrig1 |
C |
T |
6: 94,605,025 (GRCm39) |
R190Q |
possibly damaging |
Het |
Marchf6 |
A |
G |
15: 31,462,140 (GRCm39) |
S863P |
possibly damaging |
Het |
Mgst2 |
A |
G |
3: 51,589,958 (GRCm39) |
N132S |
probably benign |
Het |
Nlgn2 |
C |
T |
11: 69,716,216 (GRCm39) |
R775H |
probably damaging |
Het |
Or2n1c |
A |
C |
17: 38,519,208 (GRCm39) |
E24A |
possibly damaging |
Het |
Or5w15 |
A |
T |
2: 87,567,749 (GRCm39) |
S306R |
probably benign |
Het |
Or6c6c |
T |
C |
10: 129,541,377 (GRCm39) |
V210A |
probably benign |
Het |
Papln |
A |
T |
12: 83,818,656 (GRCm39) |
|
probably null |
Het |
Poteg |
C |
T |
8: 27,971,671 (GRCm39) |
S395L |
possibly damaging |
Het |
Prox1 |
T |
A |
1: 189,879,250 (GRCm39) |
I643F |
possibly damaging |
Het |
Septin4 |
A |
G |
11: 87,480,071 (GRCm39) |
E211G |
probably damaging |
Het |
Serpinb6e |
A |
G |
13: 34,016,468 (GRCm39) |
F422L |
probably damaging |
Het |
Slc22a19 |
A |
G |
19: 7,688,503 (GRCm39) |
L19P |
probably damaging |
Het |
Snf8 |
G |
T |
11: 95,934,286 (GRCm39) |
A136S |
probably benign |
Het |
Sparcl1 |
C |
T |
5: 104,233,629 (GRCm39) |
M573I |
probably damaging |
Het |
Spta1 |
A |
G |
1: 174,075,000 (GRCm39) |
T2409A |
probably damaging |
Het |
Tat |
A |
G |
8: 110,723,450 (GRCm39) |
S313G |
probably benign |
Het |
Tep1 |
A |
T |
14: 51,074,855 (GRCm39) |
C1785* |
probably null |
Het |
Tnfrsf8 |
T |
C |
4: 145,029,675 (GRCm39) |
R42G |
possibly damaging |
Het |
Trio |
T |
C |
15: 27,754,115 (GRCm39) |
D2124G |
possibly damaging |
Het |
Trp53bp1 |
A |
T |
2: 121,046,598 (GRCm39) |
D1067E |
probably benign |
Het |
Tspan13 |
T |
C |
12: 36,074,065 (GRCm39) |
S24G |
probably damaging |
Het |
Zdbf2 |
T |
C |
1: 63,344,062 (GRCm39) |
S814P |
possibly damaging |
Het |
Zfp213 |
C |
A |
17: 23,780,373 (GRCm39) |
R49L |
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 |
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 |
|
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'- GGTTCCCTTTCAACTGGAGG -3'
(R):5'- TCATCCTGGGTAGGGTAGAC -3'
Sequencing Primer
(F):5'- TTTCAACTGGAGGCTCAAATCC -3'
(R):5'- CGATCCTTTCCCGAGCAG -3'
|
Posted On |
2016-06-21 |