Incidental Mutation 'R1413:Tmem132c'
ID |
159683 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem132c
|
Ensembl Gene |
ENSMUSG00000034324 |
Gene Name |
transmembrane protein 132C |
Synonyms |
2810482M11Rik, 4632425D07Rik |
MMRRC Submission |
039469-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R1413 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
127318890-127642854 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 127640631 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 934
(V934D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113090
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119026]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000119026
AA Change: V934D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113090 Gene: ENSMUSG00000034324 AA Change: V934D
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: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 91.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
T |
C |
6: 142,573,245 (GRCm39) |
N1051D |
possibly damaging |
Het |
Abcc9 |
A |
G |
6: 142,536,222 (GRCm39) |
V1504A |
probably damaging |
Het |
Actr6 |
A |
T |
10: 89,564,019 (GRCm39) |
Y84* |
probably null |
Het |
Adgrl3 |
T |
C |
5: 81,841,366 (GRCm39) |
Y816H |
probably damaging |
Het |
Ahcyl2 |
T |
C |
6: 29,768,586 (GRCm39) |
|
probably benign |
Het |
Amd1 |
A |
T |
10: 40,166,404 (GRCm39) |
C157* |
probably null |
Het |
Ank1 |
G |
A |
8: 23,609,393 (GRCm39) |
E1362K |
probably damaging |
Het |
Atp10b |
A |
G |
11: 43,121,391 (GRCm39) |
Q1018R |
probably benign |
Het |
Atp1a2 |
G |
A |
1: 172,106,911 (GRCm39) |
T803I |
probably damaging |
Het |
Atr |
T |
G |
9: 95,814,495 (GRCm39) |
L2064R |
probably damaging |
Het |
Bmp3 |
T |
A |
5: 99,020,264 (GRCm39) |
L229Q |
probably damaging |
Het |
Ccl25 |
A |
G |
8: 4,403,892 (GRCm39) |
*54W |
probably null |
Het |
Cdc45 |
A |
T |
16: 18,627,491 (GRCm39) |
N111K |
possibly damaging |
Het |
Cfap61 |
T |
A |
2: 145,805,363 (GRCm39) |
S154T |
probably benign |
Het |
Cyp2c37 |
T |
A |
19: 39,982,542 (GRCm39) |
S127T |
probably benign |
Het |
Cyp4f40 |
T |
A |
17: 32,892,913 (GRCm39) |
D309E |
probably benign |
Het |
D6Ertd527e |
A |
G |
6: 87,088,335 (GRCm39) |
D166G |
unknown |
Het |
Dmbt1 |
T |
A |
7: 130,651,944 (GRCm39) |
D395E |
probably damaging |
Het |
Dnah5 |
A |
G |
15: 28,370,555 (GRCm39) |
S2832G |
probably benign |
Het |
Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
Fah |
T |
C |
7: 84,242,420 (GRCm39) |
D296G |
probably damaging |
Het |
Fam83g |
A |
G |
11: 61,593,504 (GRCm39) |
N346S |
probably damaging |
Het |
Fgl1 |
T |
A |
8: 41,644,638 (GRCm39) |
T289S |
possibly damaging |
Het |
Fmo1 |
A |
C |
1: 162,661,431 (GRCm39) |
L284R |
probably damaging |
Het |
Frem3 |
T |
A |
8: 81,395,430 (GRCm39) |
M1819K |
probably benign |
Het |
Fsip2 |
T |
A |
2: 82,818,762 (GRCm39) |
L4832M |
possibly damaging |
Het |
Fut1 |
T |
C |
7: 45,268,852 (GRCm39) |
W269R |
probably damaging |
Het |
Ggnbp2 |
A |
G |
11: 84,723,955 (GRCm39) |
Y638H |
probably damaging |
Het |
Gp2 |
T |
A |
7: 119,050,853 (GRCm39) |
I293F |
probably benign |
Het |
Gpi1 |
T |
C |
7: 33,929,580 (GRCm39) |
N20S |
probably benign |
Het |
Gxylt1 |
C |
T |
15: 93,152,273 (GRCm39) |
R222H |
probably damaging |
Het |
Hemgn |
T |
C |
4: 46,396,091 (GRCm39) |
K382E |
possibly damaging |
Het |
Hook3 |
T |
A |
8: 26,528,134 (GRCm39) |
E585D |
probably damaging |
Het |
Irf6 |
G |
A |
1: 192,851,613 (GRCm39) |
M401I |
probably benign |
Het |
Jmjd1c |
A |
G |
10: 67,085,529 (GRCm39) |
T2259A |
probably damaging |
Het |
Lactb |
T |
A |
9: 66,878,201 (GRCm39) |
R209S |
probably damaging |
Het |
Lonp2 |
A |
G |
8: 87,368,212 (GRCm39) |
D342G |
probably damaging |
Het |
Mmachc |
T |
C |
4: 116,563,194 (GRCm39) |
S54G |
probably damaging |
Het |
Mpp7 |
C |
A |
18: 7,350,977 (GRCm39) |
W573C |
probably damaging |
Het |
Or13e8 |
T |
A |
4: 43,697,011 (GRCm39) |
H54L |
possibly damaging |
Het |
Or5w1b |
T |
A |
2: 87,476,182 (GRCm39) |
Y95F |
probably benign |
Het |
Or6b2b |
A |
T |
1: 92,418,610 (GRCm39) |
I289N |
probably damaging |
Het |
Pappa2 |
A |
T |
1: 158,764,124 (GRCm39) |
D462E |
probably benign |
Het |
Pcdh12 |
A |
T |
18: 38,416,496 (GRCm39) |
F210I |
probably damaging |
Het |
Ppp1r12c |
A |
G |
7: 4,487,443 (GRCm39) |
|
probably null |
Het |
Prkce |
T |
A |
17: 86,803,446 (GRCm39) |
D448E |
possibly damaging |
Het |
Ptprb |
C |
A |
10: 116,175,584 (GRCm39) |
T1193K |
probably damaging |
Het |
Qrfpr |
T |
A |
3: 36,236,809 (GRCm39) |
E197D |
possibly damaging |
Het |
Rusc2 |
T |
A |
4: 43,416,568 (GRCm39) |
C625S |
probably benign |
Het |
Shcbp1 |
T |
G |
8: 4,791,968 (GRCm39) |
|
probably null |
Het |
Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
Spag5 |
T |
A |
11: 78,196,143 (GRCm39) |
C449* |
probably null |
Het |
Stpg3 |
T |
C |
2: 25,103,862 (GRCm39) |
D158G |
probably damaging |
Het |
Sycp2 |
T |
C |
2: 177,989,590 (GRCm39) |
Y1423C |
probably benign |
Het |
Tiprl |
C |
T |
1: 165,043,359 (GRCm39) |
E256K |
possibly damaging |
Het |
Topors |
A |
G |
4: 40,261,982 (GRCm39) |
V434A |
probably benign |
Het |
Usp11 |
A |
G |
X: 20,584,946 (GRCm39) |
Y731C |
probably damaging |
Het |
Vmn2r58 |
T |
A |
7: 41,513,387 (GRCm39) |
I419L |
probably benign |
Het |
Wfs1 |
C |
A |
5: 37,139,422 (GRCm39) |
R72L |
possibly damaging |
Het |
Zan |
T |
C |
5: 137,426,201 (GRCm39) |
D2525G |
unknown |
Het |
Zfp280c |
A |
G |
X: 47,652,715 (GRCm39) |
V285A |
probably benign |
Het |
Zfp511 |
T |
A |
7: 139,617,528 (GRCm39) |
F177I |
probably damaging |
Het |
Zfp964 |
A |
G |
8: 70,115,720 (GRCm39) |
M107V |
unknown |
Het |
Zmynd11 |
A |
G |
13: 9,760,256 (GRCm39) |
Y122H |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTAGGCTACACAGCATACCCATTG -3'
(R):5'- TTTGGGAGCCACCGTTGAGAAG -3'
Sequencing Primer
(F):5'- GACTTCACCAATTTCCCGGC -3'
(R):5'- AAGTAAGTGGTTGTTCTCCTCACAG -3'
|
Posted On |
2014-03-14 |