Incidental Mutation 'R5548:Tmem132c'
| ID |
434982 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R5548 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
127318890-127642854 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 127628587 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 496
(Y496*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113090
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119026]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000119026
AA Change: Y496*
|
| SMART Domains |
Protein: ENSMUSP00000113090
Gene: ENSMUSG00000034324
AA Change: Y496*
| 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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057J18Rik |
T |
C |
10: 28,849,863 (GRCm39) |
D191G |
probably benign |
Het |
| Ankrd39 |
C |
T |
1: 36,581,062 (GRCm39) |
G96R |
probably damaging |
Het |
| Cdh12 |
C |
T |
15: 21,492,740 (GRCm39) |
T253I |
probably damaging |
Het |
| Cox4i2 |
C |
T |
2: 152,599,011 (GRCm39) |
T56I |
possibly damaging |
Het |
| Cpsf1 |
A |
C |
15: 76,481,527 (GRCm39) |
D1141E |
possibly damaging |
Het |
| Dennd5b |
T |
C |
6: 148,920,847 (GRCm39) |
|
probably null |
Het |
| Dnah6 |
A |
T |
6: 73,128,672 (GRCm39) |
D1194E |
probably damaging |
Het |
| Dst |
C |
A |
1: 34,228,409 (GRCm39) |
H1676N |
probably benign |
Het |
| Eif4a3l1 |
T |
C |
6: 136,306,568 (GRCm39) |
V343A |
probably damaging |
Het |
| Fitm1 |
A |
G |
14: 55,813,154 (GRCm39) |
T6A |
probably benign |
Het |
| Galnt5 |
T |
A |
2: 57,904,922 (GRCm39) |
V495E |
probably damaging |
Het |
| Gtf2h2 |
C |
A |
13: 100,617,544 (GRCm39) |
R206L |
possibly damaging |
Het |
| Heatr5a |
A |
T |
12: 52,005,734 (GRCm39) |
Y80* |
probably null |
Het |
| Il17ra |
A |
G |
6: 120,455,434 (GRCm39) |
R348G |
probably benign |
Het |
| Mmp28 |
A |
T |
11: 83,334,733 (GRCm39) |
Y340* |
probably null |
Het |
| Mrgprb8 |
A |
T |
7: 48,038,778 (GRCm39) |
T150S |
probably benign |
Het |
| Ms4a10 |
A |
T |
19: 10,945,484 (GRCm39) |
|
probably null |
Het |
| Muc5b |
A |
T |
7: 141,417,679 (GRCm39) |
I3542F |
probably benign |
Het |
| Mybbp1a |
T |
C |
11: 72,336,998 (GRCm39) |
L578P |
probably damaging |
Het |
| N4bp2l1 |
G |
A |
5: 150,496,420 (GRCm39) |
R65* |
probably null |
Het |
| Nhsl3 |
GGTG |
GGTGTG |
4: 129,117,773 (GRCm39) |
|
probably null |
Het |
| Nup188 |
T |
A |
2: 30,216,505 (GRCm39) |
Y770N |
probably damaging |
Het |
| Or8b3b |
T |
C |
9: 38,584,600 (GRCm39) |
I60V |
probably benign |
Het |
| Or8s5 |
T |
A |
15: 98,238,253 (GRCm39) |
T206S |
probably benign |
Het |
| Pbrm1 |
T |
A |
14: 30,827,381 (GRCm39) |
C1257S |
probably damaging |
Het |
| Pcdh8 |
T |
C |
14: 80,004,942 (GRCm39) |
T1028A |
probably damaging |
Het |
| Pramel16 |
C |
T |
4: 143,676,550 (GRCm39) |
E185K |
probably benign |
Het |
| Qars1 |
C |
T |
9: 108,390,117 (GRCm39) |
P348S |
possibly damaging |
Het |
| Qrfpr |
T |
A |
3: 36,276,075 (GRCm39) |
Q105L |
possibly damaging |
Het |
| Slc10a5 |
A |
T |
3: 10,399,377 (GRCm39) |
Y428N |
probably benign |
Het |
| Slc16a5 |
A |
T |
11: 115,360,630 (GRCm39) |
Y271F |
probably benign |
Het |
| Slc1a4 |
T |
A |
11: 20,254,429 (GRCm39) |
Q479L |
possibly damaging |
Het |
| Slc38a1 |
C |
T |
15: 96,488,355 (GRCm39) |
G143S |
probably damaging |
Het |
| Susd1 |
G |
A |
4: 59,369,577 (GRCm39) |
T364M |
probably benign |
Het |
| Tmem63b |
A |
G |
17: 45,975,884 (GRCm39) |
I523T |
probably damaging |
Het |
| Tnrc6c |
T |
C |
11: 117,651,669 (GRCm39) |
S1731P |
possibly damaging |
Het |
| Ttll3 |
T |
A |
6: 113,370,078 (GRCm39) |
W139R |
probably damaging |
Het |
| Ubr4 |
C |
T |
4: 139,187,401 (GRCm39) |
T3823M |
probably damaging |
Het |
| Vangl1 |
T |
A |
3: 102,091,762 (GRCm39) |
D108V |
possibly damaging |
Het |
| Vmn1r120 |
T |
C |
7: 20,787,482 (GRCm39) |
I76M |
probably benign |
Het |
| Wdr17 |
A |
G |
8: 55,156,886 (GRCm39) |
Y17H |
probably damaging |
Het |
| Xkr4 |
C |
T |
1: 3,287,153 (GRCm39) |
A346T |
probably damaging |
Het |
| Zfp267 |
C |
G |
3: 36,219,640 (GRCm39) |
H554Q |
possibly damaging |
Het |
| Zfp600 |
T |
A |
4: 146,133,019 (GRCm39) |
S562R |
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 |
|
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'- TCTGCACTGGAAGCAAGTG -3'
(R):5'- TATCCTGGAGCCTGTCTTGG -3'
Sequencing Primer
(F):5'- AATGAGGCCCTGAGTTCAGATTCC -3'
(R):5'- TCTTGCTGGCCACGATG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation