Incidental Mutation 'R5623:Tmem132b'
| ID |
486865 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem132b
|
| Ensembl Gene |
ENSMUSG00000070498 |
| Gene Name |
transmembrane protein 132B |
| Synonyms |
|
| MMRRC Submission |
043162-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
R5623 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
125609449-125869647 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 125700416 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 318
(R318Q)
|
| 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: R318Q
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000031446
Gene: ENSMUSG00000070498
AA Change: R318Q
| 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
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
98% (65/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp8b1 |
T |
G |
18: 64,679,165 (GRCm39) |
Q772P |
possibly damaging |
Het |
| B3gnt2 |
C |
G |
11: 22,787,018 (GRCm39) |
A57P |
probably damaging |
Het |
| Birc6 |
T |
G |
17: 74,835,651 (GRCm39) |
D63E |
probably damaging |
Het |
| Ccdc13 |
T |
C |
9: 121,662,799 (GRCm39) |
E72G |
probably damaging |
Het |
| Cfap221 |
C |
T |
1: 119,881,898 (GRCm39) |
A297T |
probably benign |
Het |
| Chd1 |
T |
A |
17: 15,975,194 (GRCm39) |
N1081K |
probably damaging |
Het |
| Chrm3 |
C |
A |
13: 9,927,423 (GRCm39) |
V538L |
possibly damaging |
Het |
| Clec16a |
T |
A |
16: 10,428,985 (GRCm39) |
N37K |
probably benign |
Het |
| Cnksr3 |
T |
A |
10: 7,070,548 (GRCm39) |
I229F |
probably damaging |
Het |
| Cspg4b |
T |
C |
13: 113,483,168 (GRCm39) |
I1590T |
possibly damaging |
Het |
| Dchs1 |
T |
C |
7: 105,421,976 (GRCm39) |
E148G |
probably damaging |
Het |
| Diaph1 |
A |
T |
18: 38,029,146 (GRCm39) |
|
probably benign |
Het |
| Dis3l |
A |
G |
9: 64,214,885 (GRCm39) |
F895L |
possibly damaging |
Het |
| Dnah1 |
G |
T |
14: 31,007,980 (GRCm39) |
D2142E |
possibly damaging |
Het |
| Dst |
T |
C |
1: 34,229,214 (GRCm39) |
V1944A |
possibly damaging |
Het |
| Eif4a2 |
C |
T |
16: 22,928,969 (GRCm39) |
|
probably benign |
Het |
| Ephb6 |
T |
A |
6: 41,593,415 (GRCm39) |
M487K |
probably benign |
Het |
| Fgf18 |
T |
G |
11: 33,084,272 (GRCm39) |
T61P |
probably damaging |
Het |
| G6pc2 |
A |
G |
2: 69,056,927 (GRCm39) |
E191G |
probably damaging |
Het |
| Gm10717 |
C |
T |
9: 3,026,318 (GRCm39) |
S55L |
probably benign |
Het |
| Gm5414 |
A |
G |
15: 101,534,246 (GRCm39) |
F286S |
probably damaging |
Het |
| Gpcpd1 |
G |
T |
2: 132,376,637 (GRCm39) |
A553E |
probably damaging |
Het |
| Gpr153 |
A |
G |
4: 152,366,398 (GRCm39) |
D321G |
possibly damaging |
Het |
| Hecw2 |
T |
A |
1: 53,871,782 (GRCm39) |
Q1388L |
probably null |
Het |
| Ighv14-3 |
A |
C |
12: 114,023,710 (GRCm39) |
S36A |
probably damaging |
Het |
| Inpp5j |
C |
A |
11: 3,444,766 (GRCm39) |
G969V |
probably damaging |
Het |
| Kat5 |
G |
A |
19: 5,657,590 (GRCm39) |
R307W |
probably damaging |
Het |
| Klk1b21 |
A |
G |
7: 43,754,989 (GRCm39) |
S95G |
probably damaging |
Het |
| Mdm1 |
G |
A |
10: 117,986,694 (GRCm39) |
V171I |
possibly damaging |
Het |
| Nfu1 |
TCGC |
T |
6: 86,993,188 (GRCm39) |
|
probably benign |
Het |
| Or5k8 |
C |
T |
16: 58,644,706 (GRCm39) |
R122H |
probably benign |
Het |
| Or6c206 |
G |
A |
10: 129,096,901 (GRCm39) |
V24M |
probably benign |
Het |
| Phkb |
T |
A |
8: 86,569,677 (GRCm39) |
|
probably benign |
Het |
| Pkd1l3 |
A |
T |
8: 110,350,351 (GRCm39) |
T399S |
possibly damaging |
Het |
| Prr14l |
A |
T |
5: 33,001,852 (GRCm39) |
|
probably benign |
Het |
| Psg21 |
A |
C |
7: 18,388,939 (GRCm39) |
L51R |
probably damaging |
Het |
| Ptprg |
T |
A |
14: 12,153,857 (GRCm38) |
I526N |
probably damaging |
Het |
| Rab1a |
T |
C |
11: 20,151,626 (GRCm39) |
|
probably benign |
Het |
| Rims2 |
A |
T |
15: 39,342,011 (GRCm39) |
Q620L |
probably damaging |
Het |
| Rnf215 |
T |
G |
11: 4,085,453 (GRCm39) |
S58A |
probably benign |
Het |
| Scaper |
A |
C |
9: 55,771,791 (GRCm39) |
V375G |
probably benign |
Het |
| Sgk3 |
A |
T |
1: 9,872,520 (GRCm39) |
|
probably benign |
Het |
| Skic2 |
T |
C |
17: 35,066,408 (GRCm39) |
K192E |
probably benign |
Het |
| Slc34a3 |
T |
A |
2: 25,123,312 (GRCm39) |
|
probably null |
Het |
| Sspn |
T |
A |
6: 145,906,952 (GRCm39) |
C52S |
probably damaging |
Het |
| Strip1 |
T |
C |
3: 107,534,142 (GRCm39) |
E164G |
possibly damaging |
Het |
| Sult5a1 |
A |
C |
8: 123,884,181 (GRCm39) |
S47A |
probably damaging |
Het |
| Svep1 |
T |
C |
4: 58,091,964 (GRCm39) |
D1557G |
possibly damaging |
Het |
| Tdrd6 |
T |
C |
17: 43,940,224 (GRCm39) |
I275V |
probably damaging |
Het |
| Thada |
C |
T |
17: 84,499,411 (GRCm39) |
V1929I |
probably benign |
Het |
| Tmem176b |
T |
G |
6: 48,811,004 (GRCm39) |
I259L |
probably benign |
Het |
| Tmppe |
C |
A |
9: 114,234,964 (GRCm39) |
P421Q |
possibly damaging |
Het |
| Tmprss11e |
G |
A |
5: 86,857,315 (GRCm39) |
Q333* |
probably null |
Het |
| Tpcn2 |
T |
A |
7: 144,821,071 (GRCm39) |
R328W |
possibly damaging |
Het |
| Trem1 |
C |
T |
17: 48,544,083 (GRCm39) |
T36I |
probably damaging |
Het |
| Trpm2 |
C |
A |
10: 77,767,973 (GRCm39) |
R842L |
probably damaging |
Het |
| Zfp319 |
A |
G |
8: 96,052,199 (GRCm39) |
|
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 |
|
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'- TATCCACTCAGAACAGGAGGAGC -3'
(R):5'- TCCGTCACTGTCTTTTAGATGG -3'
Sequencing Primer
(F):5'- CTGCTCGGGAAAGGATCG -3'
(R):5'- ACAGAGGTCAGCTCTTTACTG -3'
|
| Posted On |
2017-09-06 |
Incidental Mutation