Incidental Mutation 'R3853:Tmem132c'
| ID |
276007 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem132c
|
| Ensembl Gene |
ENSMUSG00000034324 |
| Gene Name |
transmembrane protein 132C |
| Synonyms |
2810482M11Rik, 4632425D07Rik |
| MMRRC Submission |
040900-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
R3853 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
127318890-127642854 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 127436933 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 141
(Y141H)
|
| 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: Y141H
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000113090
Gene: ENSMUSG00000034324
AA Change: Y141H
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 97.2%
- 20x: 94.4%
|
| Validation Efficiency |
96% (47/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
T |
A |
9: 124,055,976 (GRCm39) |
H316L |
probably damaging |
Het |
| Cadps |
A |
G |
14: 12,509,090 (GRCm38) |
|
probably benign |
Het |
| Cluh |
A |
G |
11: 74,547,279 (GRCm39) |
D44G |
probably benign |
Het |
| Copb1 |
A |
G |
7: 113,822,551 (GRCm39) |
V726A |
probably damaging |
Het |
| Dsg4 |
T |
C |
18: 20,582,291 (GRCm39) |
V79A |
probably benign |
Het |
| Exo1 |
A |
T |
1: 175,720,554 (GRCm39) |
I291F |
probably benign |
Het |
| Eya4 |
C |
T |
10: 22,992,574 (GRCm39) |
A460T |
probably damaging |
Het |
| Gjd3 |
G |
T |
11: 102,690,952 (GRCm39) |
D350E |
probably benign |
Het |
| Hcar2 |
T |
C |
5: 124,002,475 (GRCm39) |
M343V |
probably benign |
Het |
| Ifna15 |
T |
C |
4: 88,476,046 (GRCm39) |
Y146C |
probably damaging |
Het |
| Lce3e |
C |
T |
3: 92,875,139 (GRCm39) |
Q32* |
probably null |
Het |
| Llgl1 |
T |
C |
11: 60,598,075 (GRCm39) |
L373P |
probably damaging |
Het |
| Mark2 |
A |
G |
19: 7,254,655 (GRCm39) |
C642R |
probably damaging |
Het |
| Mbd3l2 |
A |
G |
9: 18,356,092 (GRCm39) |
Q139R |
probably benign |
Het |
| Mki67 |
A |
C |
7: 135,297,859 (GRCm39) |
S2392A |
probably benign |
Het |
| Nynrin |
T |
A |
14: 56,101,562 (GRCm39) |
N410K |
probably benign |
Het |
| Or10g7 |
A |
T |
9: 39,905,450 (GRCm39) |
T115S |
probably damaging |
Het |
| Or4a71 |
A |
T |
2: 89,357,917 (GRCm39) |
M279K |
possibly damaging |
Het |
| Or5b112 |
A |
G |
19: 13,319,862 (GRCm39) |
T247A |
possibly damaging |
Het |
| Or7a38 |
T |
A |
10: 78,752,781 (GRCm39) |
Y36N |
probably damaging |
Het |
| Or8b1 |
G |
T |
9: 38,400,247 (GRCm39) |
R307S |
probably benign |
Het |
| Padi3 |
T |
C |
4: 140,518,580 (GRCm39) |
|
probably benign |
Het |
| Prkce |
A |
G |
17: 86,476,277 (GRCm39) |
D86G |
probably damaging |
Het |
| Pwwp3b |
C |
T |
X: 138,137,403 (GRCm39) |
|
probably null |
Het |
| Rad21 |
T |
G |
15: 51,835,712 (GRCm39) |
I234L |
probably benign |
Het |
| Scn4a |
A |
T |
11: 106,210,932 (GRCm39) |
M1695K |
possibly damaging |
Het |
| Sdccag8 |
T |
C |
1: 176,681,361 (GRCm39) |
S325P |
probably damaging |
Het |
| Sebox |
G |
A |
11: 78,394,975 (GRCm39) |
G106R |
probably benign |
Het |
| Serpinb9 |
A |
G |
13: 33,199,503 (GRCm39) |
E266G |
possibly damaging |
Het |
| Shoc1 |
T |
C |
4: 59,047,390 (GRCm39) |
N1410D |
possibly damaging |
Het |
| Snx14 |
T |
C |
9: 88,289,372 (GRCm39) |
|
probably benign |
Het |
| Tmc6 |
A |
T |
11: 117,663,884 (GRCm39) |
L474* |
probably null |
Het |
| Trap1 |
G |
A |
16: 3,872,686 (GRCm39) |
R328C |
possibly damaging |
Het |
| Trim36 |
C |
A |
18: 46,305,439 (GRCm39) |
|
probably benign |
Het |
| Trmt2a |
A |
T |
16: 18,069,055 (GRCm39) |
Y299F |
possibly damaging |
Het |
| Trrap |
A |
G |
5: 144,728,975 (GRCm39) |
K630E |
probably damaging |
Het |
| Tsnaxip1 |
A |
T |
8: 106,567,333 (GRCm39) |
|
probably benign |
Het |
| Ttc6 |
G |
T |
12: 57,775,335 (GRCm39) |
C1677F |
possibly damaging |
Het |
| Ugt2a3 |
A |
T |
5: 87,485,018 (GRCm39) |
V2D |
|
Het |
| Usp9x |
A |
G |
X: 12,964,822 (GRCm39) |
D77G |
probably benign |
Het |
| Wfs1 |
C |
A |
5: 37,125,968 (GRCm39) |
V308L |
probably benign |
Het |
| Zan |
A |
C |
5: 137,472,326 (GRCm39) |
L140R |
probably damaging |
Het |
| Zc3h3 |
A |
T |
15: 75,709,346 (GRCm39) |
S508T |
probably benign |
Het |
| Zswim3 |
A |
G |
2: 164,662,777 (GRCm39) |
Y419C |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTCCTAAAGGAGGCCAACC -3'
(R):5'- TAATACAGTTCCACCGGACTCC -3'
Sequencing Primer
(F):5'- TGCGGAATGCCAGCCTG -3'
(R):5'- ATACAACCGCTGGGGGACTG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation