Incidental Mutation 'IGL02143:Tmem132c'
| ID |
281658 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmem132c
|
| Ensembl Gene |
ENSMUSG00000034324 |
| Gene Name |
transmembrane protein 132C |
| Synonyms |
2810482M11Rik, 4632425D07Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
IGL02143
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
127318890-127642854 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 127640466 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 879
(R879Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113090
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119026]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119026
AA Change: R879Q
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000113090
Gene: ENSMUSG00000034324
AA Change: R879Q
| 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 |
probably benign
Transcript: ENSMUST00000145748
|
| SMART Domains |
Protein: ENSMUSP00000121783
Gene: ENSMUSG00000034324
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMEM132
|
1 |
112 |
6.2e-31 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd5 |
T |
C |
9: 122,194,278 (GRCm39) |
M1T |
probably null |
Het |
| Ager |
G |
A |
17: 34,818,092 (GRCm39) |
G183E |
probably damaging |
Het |
| Alcam |
C |
A |
16: 52,125,982 (GRCm39) |
V112L |
probably damaging |
Het |
| Amot |
T |
A |
X: 144,270,024 (GRCm39) |
Q204H |
probably damaging |
Het |
| Ankar |
C |
T |
1: 72,697,808 (GRCm39) |
|
probably null |
Het |
| Armc9 |
A |
G |
1: 86,104,587 (GRCm39) |
M279V |
possibly damaging |
Het |
| Bpifb1 |
C |
T |
2: 154,051,849 (GRCm39) |
T218I |
probably benign |
Het |
| Cacna1f |
A |
C |
X: 7,480,234 (GRCm39) |
|
probably benign |
Het |
| Cacna2d2 |
T |
C |
9: 107,395,474 (GRCm39) |
|
probably null |
Het |
| Ccdc57 |
A |
T |
11: 120,752,069 (GRCm39) |
C837* |
probably null |
Het |
| Ctbp2 |
G |
A |
7: 132,592,885 (GRCm39) |
A808V |
probably damaging |
Het |
| Dcbld2 |
T |
C |
16: 58,268,889 (GRCm39) |
|
probably null |
Het |
| Dis3 |
T |
C |
14: 99,328,754 (GRCm39) |
|
probably benign |
Het |
| Disp2 |
T |
C |
2: 118,620,450 (GRCm39) |
F394S |
probably damaging |
Het |
| Dnah1 |
T |
C |
14: 31,005,246 (GRCm39) |
N2336S |
probably damaging |
Het |
| Drap1 |
C |
A |
19: 5,473,871 (GRCm39) |
L66F |
probably damaging |
Het |
| Eif5a2 |
C |
T |
3: 28,847,888 (GRCm39) |
R109C |
probably benign |
Het |
| Enpp1 |
A |
T |
10: 24,553,872 (GRCm39) |
D105E |
probably damaging |
Het |
| Evi5l |
G |
A |
8: 4,241,293 (GRCm39) |
M275I |
probably damaging |
Het |
| Flt1 |
T |
C |
5: 147,515,246 (GRCm39) |
T1059A |
probably benign |
Het |
| Fndc3c1 |
T |
C |
X: 105,516,340 (GRCm39) |
|
probably benign |
Het |
| Git1 |
T |
C |
11: 77,396,813 (GRCm39) |
V645A |
possibly damaging |
Het |
| Gm7735 |
T |
A |
16: 88,966,437 (GRCm39) |
C20* |
probably null |
Het |
| Ighv1-42 |
G |
T |
12: 114,900,906 (GRCm39) |
P60T |
probably benign |
Het |
| Jakmip2 |
A |
T |
18: 43,696,350 (GRCm39) |
L533Q |
probably damaging |
Het |
| Kdm2b |
C |
T |
5: 123,085,898 (GRCm39) |
E238K |
probably damaging |
Het |
| Lpin2 |
T |
C |
17: 71,550,921 (GRCm39) |
S694P |
probably damaging |
Het |
| Mab21l2 |
C |
T |
3: 86,454,562 (GRCm39) |
R146Q |
possibly damaging |
Het |
| Mmp1b |
A |
T |
9: 7,386,400 (GRCm39) |
S174T |
probably benign |
Het |
| Neb |
T |
C |
2: 52,181,211 (GRCm39) |
Y1132C |
probably damaging |
Het |
| Nhsl1 |
A |
T |
10: 18,387,383 (GRCm39) |
H219L |
possibly damaging |
Het |
| Nwd2 |
T |
A |
5: 63,948,996 (GRCm39) |
|
probably null |
Het |
| Obp1a |
A |
C |
X: 77,134,449 (GRCm39) |
M18R |
possibly damaging |
Het |
| Or13a19 |
A |
T |
7: 139,903,505 (GRCm39) |
K298* |
probably null |
Het |
| Or2ag13 |
T |
C |
7: 106,473,180 (GRCm39) |
T91A |
probably benign |
Het |
| Pabpc5 |
T |
A |
X: 118,837,688 (GRCm39) |
M1K |
probably null |
Het |
| Paxip1 |
A |
G |
5: 27,980,596 (GRCm39) |
|
probably benign |
Het |
| Perm1 |
A |
G |
4: 156,302,500 (GRCm39) |
E348G |
probably benign |
Het |
| Pfkfb1 |
T |
C |
X: 149,405,138 (GRCm39) |
F170L |
probably damaging |
Het |
| Pou3f3 |
A |
G |
1: 42,737,686 (GRCm39) |
M461V |
probably benign |
Het |
| Ppfia2 |
G |
A |
10: 106,693,360 (GRCm39) |
D622N |
probably damaging |
Het |
| Prtg |
T |
G |
9: 72,799,606 (GRCm39) |
S801R |
probably damaging |
Het |
| Rars2 |
T |
A |
4: 34,623,404 (GRCm39) |
|
probably benign |
Het |
| Rasal1 |
A |
G |
5: 120,790,917 (GRCm39) |
D35G |
probably damaging |
Het |
| Repin1 |
T |
A |
6: 48,574,055 (GRCm39) |
L272Q |
probably damaging |
Het |
| Spmip5 |
C |
A |
19: 58,777,684 (GRCm39) |
R34L |
possibly damaging |
Het |
| Stk36 |
T |
C |
1: 74,655,728 (GRCm39) |
|
probably benign |
Het |
| Tbxa2r |
A |
G |
10: 81,170,320 (GRCm39) |
T269A |
probably benign |
Het |
| Vmn1r78 |
C |
A |
7: 11,886,407 (GRCm39) |
A6E |
probably benign |
Het |
| Vps45 |
A |
T |
3: 95,941,133 (GRCm39) |
N369K |
probably benign |
Het |
| Vps45 |
T |
C |
3: 95,926,958 (GRCm39) |
I530V |
probably benign |
Het |
| Zkscan16 |
G |
A |
4: 58,956,911 (GRCm39) |
G398R |
probably 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 |
|
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 |
|
|
R6425:Tmem132c
|
UTSW |
5 |
127,630,329 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation