Incidental Mutation 'IGL03387:Tmem132c'
| ID |
420917 |
| 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 # |
IGL03387
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
127318890-127642854 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 127640784 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 985
(I985T)
|
| 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: I985T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000113090
Gene: ENSMUSG00000034324
AA Change: I985T
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy2 |
A |
C |
13: 68,878,486 (GRCm39) |
I384S |
probably damaging |
Het |
| Atxn7 |
T |
C |
14: 14,087,273 (GRCm38) |
|
probably benign |
Het |
| Blm |
A |
T |
7: 80,143,895 (GRCm39) |
V848D |
probably damaging |
Het |
| Cul1 |
G |
T |
6: 47,478,143 (GRCm39) |
L175F |
probably damaging |
Het |
| Cyp4a29 |
A |
G |
4: 115,108,368 (GRCm39) |
H364R |
possibly damaging |
Het |
| Ddx60 |
A |
G |
8: 62,465,483 (GRCm39) |
D1380G |
probably damaging |
Het |
| Det1 |
A |
T |
7: 78,493,372 (GRCm39) |
C211S |
possibly damaging |
Het |
| Dnaaf9 |
A |
G |
2: 130,559,200 (GRCm39) |
Y822H |
probably damaging |
Het |
| F5 |
A |
C |
1: 164,020,801 (GRCm39) |
Q1092P |
probably damaging |
Het |
| Fam117b |
A |
C |
1: 59,992,119 (GRCm39) |
Y256S |
probably benign |
Het |
| Fbxl13 |
A |
G |
5: 21,728,796 (GRCm39) |
|
probably null |
Het |
| Galnt7 |
A |
G |
8: 57,979,212 (GRCm39) |
I637T |
probably benign |
Het |
| H2-T24 |
T |
A |
17: 36,317,671 (GRCm39) |
K120N |
unknown |
Het |
| Hes2 |
A |
G |
4: 152,244,269 (GRCm39) |
K18R |
probably damaging |
Het |
| Icam5 |
A |
T |
9: 20,945,097 (GRCm39) |
Q220L |
probably benign |
Het |
| Kdm8 |
G |
A |
7: 125,054,278 (GRCm39) |
A170T |
probably benign |
Het |
| Krt40 |
G |
A |
11: 99,430,711 (GRCm39) |
A321V |
probably damaging |
Het |
| Mapkbp1 |
T |
A |
2: 119,828,979 (GRCm39) |
V45D |
probably damaging |
Het |
| Mbip |
A |
G |
12: 56,382,597 (GRCm39) |
Y290H |
probably damaging |
Het |
| Mical1 |
A |
G |
10: 41,354,195 (GRCm39) |
Y48C |
probably damaging |
Het |
| Mslnl |
T |
C |
17: 25,963,051 (GRCm39) |
S300P |
probably benign |
Het |
| Nanog |
T |
C |
6: 122,688,731 (GRCm39) |
L104P |
probably damaging |
Het |
| Or10ak11 |
T |
C |
4: 118,687,238 (GRCm39) |
Y132C |
probably damaging |
Het |
| Or4c113 |
A |
T |
2: 88,885,457 (GRCm39) |
H104Q |
probably damaging |
Het |
| Or4f60 |
T |
A |
2: 111,902,007 (GRCm39) |
Y307F |
probably benign |
Het |
| Or52n2c |
A |
T |
7: 104,574,580 (GRCm39) |
N130K |
probably benign |
Het |
| Oxgr1 |
C |
A |
14: 120,260,199 (GRCm39) |
E3* |
probably null |
Het |
| Pam16 |
A |
T |
16: 4,434,671 (GRCm39) |
|
probably benign |
Het |
| Plcb1 |
A |
T |
2: 134,655,606 (GRCm39) |
|
probably benign |
Het |
| Slc25a32 |
A |
T |
15: 38,969,359 (GRCm39) |
V58E |
probably benign |
Het |
| Slc2a12 |
G |
T |
10: 22,541,134 (GRCm39) |
V330F |
probably damaging |
Het |
| Slit1 |
T |
C |
19: 41,591,881 (GRCm39) |
E1247G |
possibly damaging |
Het |
| Supt5 |
A |
T |
7: 28,019,508 (GRCm39) |
C519S |
possibly damaging |
Het |
| Szt2 |
A |
G |
4: 118,221,922 (GRCm39) |
|
probably benign |
Het |
| Tas2r118 |
A |
G |
6: 23,969,180 (GRCm39) |
W294R |
possibly damaging |
Het |
| Tex21 |
A |
T |
12: 76,245,694 (GRCm39) |
M534K |
probably damaging |
Het |
| Tmem87b |
T |
C |
2: 128,665,019 (GRCm39) |
V61A |
probably benign |
Het |
| Trhr2 |
G |
A |
8: 123,085,220 (GRCm39) |
|
probably benign |
Het |
| Ttc28 |
A |
G |
5: 111,381,208 (GRCm39) |
D1209G |
probably benign |
Het |
| Uchl5 |
A |
G |
1: 143,677,940 (GRCm39) |
E148G |
probably benign |
Het |
| Wdr62 |
T |
C |
7: 29,970,199 (GRCm39) |
I203V |
possibly damaging |
Het |
| Wnk1 |
T |
C |
6: 119,931,148 (GRCm39) |
I799V |
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 |
|
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 |
2016-08-02 |
Incidental Mutation