Incidental Mutation 'R6425:Tmem132c'
| ID |
518288 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem132c
|
| Ensembl Gene |
ENSMUSG00000034324 |
| Gene Name |
transmembrane protein 132C |
| Synonyms |
2810482M11Rik, 4632425D07Rik |
| MMRRC Submission |
044564-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
R6425 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
127318890-127642854 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 127630329 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 622
(M622K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113090
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119026]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000119026
AA Change: M622K
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000113090
Gene: ENSMUSG00000034324
AA Change: M622K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
21 |
N/A |
INTRINSIC |
|
Pfam:TMEM132D_N
|
58 |
187 |
1.2e-54 |
PFAM |
|
Pfam:TMEM132
|
444 |
787 |
4.5e-143 |
PFAM |
|
Pfam:TMEM132D_C
|
892 |
980 |
2.4e-39 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128068
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132592
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000145748
AA Change: M4K
|
| SMART Domains |
Protein: ENSMUSP00000121783
Gene: ENSMUSG00000034324
AA Change: M4K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMEM132
|
1 |
112 |
6.2e-31 |
PFAM |
|
| Meta Mutation Damage Score |
0.7055 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (41/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
C |
11: 110,220,058 (GRCm39) |
T3A |
possibly damaging |
Het |
| Ash1l |
A |
G |
3: 88,891,087 (GRCm39) |
T989A |
probably damaging |
Het |
| Atp6v0a2 |
T |
A |
5: 124,790,194 (GRCm39) |
L459Q |
probably damaging |
Het |
| Atp6v0a4 |
A |
T |
6: 38,027,446 (GRCm39) |
V788D |
possibly damaging |
Het |
| Auh |
G |
A |
13: 52,995,080 (GRCm39) |
R162C |
probably damaging |
Het |
| Begain |
C |
A |
12: 108,999,320 (GRCm39) |
G689C |
probably damaging |
Het |
| Brcc3dc |
A |
C |
10: 108,535,757 (GRCm39) |
M66R |
possibly damaging |
Het |
| Cd300lg |
T |
C |
11: 101,937,749 (GRCm39) |
F193S |
probably benign |
Het |
| Cenpf |
T |
G |
1: 189,392,095 (GRCm39) |
N579T |
probably benign |
Het |
| Cfap65 |
T |
C |
1: 74,966,868 (GRCm39) |
H273R |
probably benign |
Het |
| Col6a6 |
T |
C |
9: 105,576,064 (GRCm39) |
T2099A |
probably benign |
Het |
| Dock1 |
A |
G |
7: 134,765,110 (GRCm39) |
K1701E |
possibly damaging |
Het |
| Dtl |
T |
C |
1: 191,278,735 (GRCm39) |
I376V |
probably benign |
Het |
| F830045P16Rik |
C |
A |
2: 129,302,500 (GRCm39) |
C364F |
probably damaging |
Het |
| Fancl |
C |
T |
11: 26,349,680 (GRCm39) |
L63F |
probably damaging |
Het |
| Gli2 |
A |
T |
1: 118,763,624 (GRCm39) |
L1509* |
probably null |
Het |
| Glyr1 |
A |
T |
16: 4,854,350 (GRCm39) |
|
probably null |
Het |
| Igkv6-32 |
A |
T |
6: 70,051,284 (GRCm39) |
M24K |
probably damaging |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Klhl18 |
T |
C |
9: 110,275,749 (GRCm39) |
E133G |
possibly damaging |
Het |
| Lgals4 |
A |
T |
7: 28,533,885 (GRCm39) |
K20* |
probably null |
Het |
| Myo9b |
A |
G |
8: 71,786,272 (GRCm39) |
D646G |
probably damaging |
Het |
| Pcdhb3 |
T |
C |
18: 37,435,528 (GRCm39) |
L498P |
possibly damaging |
Het |
| Pcdhgb4 |
T |
C |
18: 37,854,640 (GRCm39) |
V345A |
possibly damaging |
Het |
| Pdc |
T |
C |
1: 150,209,123 (GRCm39) |
V202A |
probably benign |
Het |
| Pfas |
T |
C |
11: 68,881,897 (GRCm39) |
I929M |
probably benign |
Het |
| Plxna1 |
G |
T |
6: 89,311,647 (GRCm39) |
R953S |
probably benign |
Het |
| Pnpla5 |
T |
C |
15: 84,006,836 (GRCm39) |
|
probably null |
Het |
| Psmd1 |
T |
C |
1: 85,998,350 (GRCm39) |
|
probably null |
Het |
| Rbm47 |
C |
T |
5: 66,180,159 (GRCm39) |
G452S |
probably damaging |
Het |
| Reln |
G |
A |
5: 22,116,018 (GRCm39) |
Q2997* |
probably null |
Het |
| Rrn3 |
A |
G |
16: 13,629,465 (GRCm39) |
T594A |
probably benign |
Het |
| Slc25a35 |
G |
A |
11: 68,859,591 (GRCm39) |
A35T |
possibly damaging |
Het |
| Slc33a1 |
A |
G |
3: 63,871,484 (GRCm39) |
V43A |
probably benign |
Het |
| Sorcs3 |
T |
C |
19: 48,752,746 (GRCm39) |
|
probably null |
Het |
| Tbk1 |
A |
G |
10: 121,399,867 (GRCm39) |
M319T |
probably benign |
Het |
| Tshz1 |
A |
T |
18: 84,033,688 (GRCm39) |
F240Y |
probably damaging |
Het |
| Ube2b |
A |
T |
11: 51,882,244 (GRCm39) |
L73* |
probably null |
Het |
| Vipas39 |
A |
G |
12: 87,288,063 (GRCm39) |
V449A |
probably damaging |
Het |
| Zfp870 |
T |
C |
17: 33,102,045 (GRCm39) |
N429S |
possibly damaging |
Het |
|
| Other mutations in Tmem132c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00869:Tmem132c
|
APN |
5 |
127,640,306 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL00985:Tmem132c
|
APN |
5 |
127,581,930 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01599:Tmem132c
|
APN |
5 |
127,436,616 (GRCm39) |
splice site |
probably benign |
|
|
IGL01750:Tmem132c
|
APN |
5 |
127,540,023 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01893:Tmem132c
|
APN |
5 |
127,540,093 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL02143:Tmem132c
|
APN |
5 |
127,640,466 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02164:Tmem132c
|
APN |
5 |
127,613,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02252:Tmem132c
|
APN |
5 |
127,539,991 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02527:Tmem132c
|
APN |
5 |
127,436,675 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02584:Tmem132c
|
APN |
5 |
127,582,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02878:Tmem132c
|
APN |
5 |
127,640,154 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03065:Tmem132c
|
APN |
5 |
127,640,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03120:Tmem132c
|
APN |
5 |
127,640,448 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL03380:Tmem132c
|
APN |
5 |
127,613,506 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03387:Tmem132c
|
APN |
5 |
127,640,784 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0106:Tmem132c
|
UTSW |
5 |
127,631,733 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0106:Tmem132c
|
UTSW |
5 |
127,631,733 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0415:Tmem132c
|
UTSW |
5 |
127,640,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0607:Tmem132c
|
UTSW |
5 |
127,640,617 (GRCm39) |
nonsense |
probably null |
|
|
R1413:Tmem132c
|
UTSW |
5 |
127,640,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1531:Tmem132c
|
UTSW |
5 |
127,436,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1648:Tmem132c
|
UTSW |
5 |
127,540,120 (GRCm39) |
splice site |
probably benign |
|
|
R2148:Tmem132c
|
UTSW |
5 |
127,540,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2149:Tmem132c
|
UTSW |
5 |
127,540,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2259:Tmem132c
|
UTSW |
5 |
127,581,988 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3853:Tmem132c
|
UTSW |
5 |
127,436,933 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4204:Tmem132c
|
UTSW |
5 |
127,640,829 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4543:Tmem132c
|
UTSW |
5 |
127,582,041 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4701:Tmem132c
|
UTSW |
5 |
127,641,560 (GRCm39) |
unclassified |
probably benign |
|
|
R5017:Tmem132c
|
UTSW |
5 |
127,640,414 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5037:Tmem132c
|
UTSW |
5 |
127,630,199 (GRCm39) |
missense |
probably benign |
0.42 |
|
R5327:Tmem132c
|
UTSW |
5 |
127,640,816 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5423:Tmem132c
|
UTSW |
5 |
127,640,907 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5548:Tmem132c
|
UTSW |
5 |
127,628,587 (GRCm39) |
nonsense |
probably null |
|
|
R6717:Tmem132c
|
UTSW |
5 |
127,641,093 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6899:Tmem132c
|
UTSW |
5 |
127,628,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7007:Tmem132c
|
UTSW |
5 |
127,436,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7297:Tmem132c
|
UTSW |
5 |
127,437,281 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7326:Tmem132c
|
UTSW |
5 |
127,641,123 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7386:Tmem132c
|
UTSW |
5 |
127,640,990 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7504:Tmem132c
|
UTSW |
5 |
127,631,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7640:Tmem132c
|
UTSW |
5 |
127,640,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7718:Tmem132c
|
UTSW |
5 |
127,640,504 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7762:Tmem132c
|
UTSW |
5 |
127,631,760 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7818:Tmem132c
|
UTSW |
5 |
127,641,152 (GRCm39) |
makesense |
probably null |
|
|
R8117:Tmem132c
|
UTSW |
5 |
127,437,176 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8425:Tmem132c
|
UTSW |
5 |
127,641,421 (GRCm39) |
missense |
|
|
|
R8749:Tmem132c
|
UTSW |
5 |
127,437,003 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8771:Tmem132c
|
UTSW |
5 |
127,437,192 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8798:Tmem132c
|
UTSW |
5 |
127,437,217 (GRCm39) |
nonsense |
probably null |
|
|
R9372:Tmem132c
|
UTSW |
5 |
127,640,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0067:Tmem132c
|
UTSW |
5 |
127,613,471 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
Z1088:Tmem132c
|
UTSW |
5 |
127,581,985 (GRCm39) |
missense |
probably benign |
0.14 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACTGAGCCAGGACTCTTCC -3'
(R):5'- ACTAGCCACAGGAATCTGCCTC -3'
Sequencing Primer
(F):5'- GGACTCTTCCTCCCACACAGG -3'
(R):5'- ACAGGAATCTGCCTCGCATTC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation