Incidental Mutation 'R8973:Tmem131l'
ID |
683227 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem131l
|
Ensembl Gene |
ENSMUSG00000033767 |
Gene Name |
transmembrane 131 like |
Synonyms |
D930015E06Rik |
MMRRC Submission |
068807-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.138)
|
Stock # |
R8973 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
83804962-83947482 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 83836039 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 690
(V690D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141438
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052342]
[ENSMUST00000191758]
[ENSMUST00000192095]
|
AlphaFold |
Q3U3D7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000052342
AA Change: V690D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000049808 Gene: ENSMUSG00000033767 AA Change: V690D
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
40 |
N/A |
INTRINSIC |
Pfam:TMEM131_like
|
91 |
174 |
5.8e-20 |
PFAM |
low complexity region
|
464 |
477 |
N/A |
INTRINSIC |
low complexity region
|
612 |
630 |
N/A |
INTRINSIC |
low complexity region
|
904 |
917 |
N/A |
INTRINSIC |
low complexity region
|
990 |
997 |
N/A |
INTRINSIC |
low complexity region
|
1221 |
1239 |
N/A |
INTRINSIC |
low complexity region
|
1291 |
1324 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000191758
AA Change: V690D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141438 Gene: ENSMUSG00000033767 AA Change: V690D
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
40 |
N/A |
INTRINSIC |
Pfam:DUF3651
|
155 |
228 |
9.2e-10 |
PFAM |
Pfam:DUF3651
|
285 |
362 |
1.5e-9 |
PFAM |
low complexity region
|
464 |
477 |
N/A |
INTRINSIC |
low complexity region
|
612 |
630 |
N/A |
INTRINSIC |
low complexity region
|
904 |
917 |
N/A |
INTRINSIC |
low complexity region
|
990 |
997 |
N/A |
INTRINSIC |
low complexity region
|
1221 |
1239 |
N/A |
INTRINSIC |
low complexity region
|
1291 |
1324 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000192095
AA Change: V690D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000141607 Gene: ENSMUSG00000033767 AA Change: V690D
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
40 |
N/A |
INTRINSIC |
Pfam:DUF3651
|
155 |
228 |
8.8e-10 |
PFAM |
Pfam:DUF3651
|
285 |
362 |
1.4e-9 |
PFAM |
low complexity region
|
464 |
477 |
N/A |
INTRINSIC |
low complexity region
|
612 |
630 |
N/A |
INTRINSIC |
low complexity region
|
904 |
917 |
N/A |
INTRINSIC |
low complexity region
|
989 |
996 |
N/A |
INTRINSIC |
low complexity region
|
1220 |
1238 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.6329 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
Validation Efficiency |
100% (77/77) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts16 |
A |
T |
13: 70,886,959 (GRCm39) |
I975N |
probably benign |
Het |
Adcy8 |
A |
G |
15: 64,570,984 (GRCm39) |
*1250Q |
probably null |
Het |
Anapc1 |
A |
T |
2: 128,505,952 (GRCm39) |
I628N |
probably damaging |
Het |
Ankrd39 |
C |
T |
1: 36,578,439 (GRCm39) |
|
probably benign |
Het |
Ankub1 |
A |
T |
3: 57,572,932 (GRCm39) |
S263R |
possibly damaging |
Het |
Aoah |
A |
G |
13: 21,024,325 (GRCm39) |
I94V |
probably benign |
Het |
Aox1 |
A |
G |
1: 58,329,113 (GRCm39) |
D186G |
probably benign |
Het |
Arap2 |
A |
T |
5: 62,855,668 (GRCm39) |
C589* |
probably null |
Het |
Armt1 |
T |
C |
10: 4,389,550 (GRCm39) |
L69P |
probably damaging |
Het |
Atxn7l3 |
T |
A |
11: 102,183,598 (GRCm39) |
Y185F |
probably benign |
Het |
Cacna2d4 |
A |
G |
6: 119,218,142 (GRCm39) |
D159G |
probably damaging |
Het |
Camta2 |
C |
A |
11: 70,561,184 (GRCm39) |
R1184L |
probably benign |
Het |
Ccdc192 |
T |
G |
18: 57,725,139 (GRCm39) |
L123V |
possibly damaging |
Het |
Ccr7 |
G |
A |
11: 99,036,649 (GRCm39) |
T91I |
probably damaging |
Het |
Cdh9 |
A |
G |
15: 16,831,131 (GRCm39) |
T323A |
possibly damaging |
Het |
Cep250 |
C |
T |
2: 155,812,042 (GRCm39) |
A446V |
unknown |
Het |
Clec2e |
C |
A |
6: 129,070,374 (GRCm39) |
G216* |
probably null |
Het |
Col25a1 |
T |
C |
3: 130,269,275 (GRCm39) |
S176P |
unknown |
Het |
Col4a3 |
A |
C |
1: 82,693,052 (GRCm39) |
I1446L |
probably benign |
Het |
Cplane1 |
T |
C |
15: 8,233,277 (GRCm39) |
W1201R |
probably damaging |
Het |
Cse1l |
A |
G |
2: 166,785,000 (GRCm39) |
E823G |
probably damaging |
Het |
Cspg4b |
A |
G |
13: 113,456,293 (GRCm39) |
T780A |
|
Het |
Dchs2 |
A |
G |
3: 83,261,763 (GRCm39) |
E2677G |
possibly damaging |
Het |
Dis3l |
T |
C |
9: 64,246,824 (GRCm39) |
E77G |
probably damaging |
Het |
Dnah6 |
T |
C |
6: 73,121,734 (GRCm39) |
D1416G |
probably benign |
Het |
Dpyd |
T |
C |
3: 119,108,582 (GRCm39) |
|
probably null |
Het |
Dst |
A |
G |
1: 34,267,936 (GRCm39) |
D3112G |
probably damaging |
Het |
Dusp13b |
A |
C |
14: 21,784,974 (GRCm39) |
N128K |
probably benign |
Het |
Emilin2 |
T |
G |
17: 71,582,079 (GRCm39) |
K216Q |
probably benign |
Het |
Enam |
T |
C |
5: 88,641,947 (GRCm39) |
W254R |
possibly damaging |
Het |
Esrrg |
A |
C |
1: 187,930,947 (GRCm39) |
N346T |
possibly damaging |
Het |
Fbn2 |
C |
T |
18: 58,286,928 (GRCm39) |
G244R |
probably damaging |
Het |
Fbxw25 |
A |
G |
9: 109,479,132 (GRCm39) |
L373P |
|
Het |
Gm21060 |
C |
A |
19: 61,285,366 (GRCm39) |
V48L |
possibly damaging |
Het |
Gtpbp3 |
T |
C |
8: 71,943,806 (GRCm39) |
V254A |
possibly damaging |
Het |
H2-DMb2 |
A |
G |
17: 34,367,699 (GRCm39) |
D171G |
probably damaging |
Het |
Hrg |
A |
T |
16: 22,777,968 (GRCm39) |
T242S |
probably benign |
Het |
Inf2 |
G |
T |
12: 112,573,949 (GRCm39) |
C751F |
unknown |
Het |
Krt13 |
A |
T |
11: 100,010,264 (GRCm39) |
M239K |
possibly damaging |
Het |
Lrrc72 |
A |
G |
12: 36,303,293 (GRCm39) |
S7P |
probably benign |
Het |
Matn2 |
A |
G |
15: 34,433,196 (GRCm39) |
I867V |
probably benign |
Het |
Mdh2 |
C |
T |
5: 135,819,019 (GRCm39) |
A325V |
possibly damaging |
Het |
Mki67 |
C |
A |
7: 135,297,364 (GRCm39) |
A2557S |
possibly damaging |
Het |
Mrpl16 |
A |
T |
19: 11,750,307 (GRCm39) |
R64* |
probably null |
Het |
Nav1 |
T |
C |
1: 135,512,463 (GRCm39) |
D199G |
probably benign |
Het |
Nbn |
T |
C |
4: 15,986,585 (GRCm39) |
V662A |
probably damaging |
Het |
Nek10 |
G |
A |
14: 14,931,321 (GRCm38) |
|
probably null |
Het |
Or14a257 |
A |
G |
7: 86,138,487 (GRCm39) |
S91P |
probably damaging |
Het |
Or5t18 |
C |
A |
2: 86,637,200 (GRCm39) |
V48F |
probably benign |
Het |
Or7g12 |
C |
A |
9: 18,899,974 (GRCm39) |
S230* |
probably null |
Het |
Or8b37 |
T |
A |
9: 37,958,839 (GRCm39) |
V107D |
possibly damaging |
Het |
Pcsk7 |
T |
G |
9: 45,838,940 (GRCm39) |
S617R |
probably benign |
Het |
Pde10a |
C |
A |
17: 9,143,071 (GRCm39) |
Q6K |
probably benign |
Het |
Pigq |
A |
C |
17: 26,151,141 (GRCm39) |
M396R |
probably damaging |
Het |
Pkhd1l1 |
T |
A |
15: 44,449,833 (GRCm39) |
D3865E |
probably damaging |
Het |
Prag1 |
C |
T |
8: 36,566,744 (GRCm39) |
|
probably benign |
Het |
Rbis |
C |
T |
3: 14,672,305 (GRCm39) |
V97I |
probably benign |
Het |
Rint1 |
A |
G |
5: 24,016,728 (GRCm39) |
T498A |
probably benign |
Het |
Rnf213 |
T |
A |
11: 119,352,756 (GRCm39) |
F3921I |
|
Het |
Rpp14 |
A |
G |
14: 8,088,768 (GRCm38) |
S95G |
probably benign |
Het |
Ryk |
T |
G |
9: 102,739,120 (GRCm39) |
Y78D |
possibly damaging |
Het |
Sez6 |
A |
T |
11: 77,865,397 (GRCm39) |
Q678L |
probably damaging |
Het |
Slc22a21 |
T |
C |
11: 53,860,402 (GRCm39) |
K141E |
probably damaging |
Het |
Slc30a5 |
A |
T |
13: 100,943,202 (GRCm39) |
I609K |
probably damaging |
Het |
Slc44a4 |
T |
C |
17: 35,140,538 (GRCm39) |
F244L |
probably damaging |
Het |
Spata31e1 |
A |
T |
13: 49,941,715 (GRCm39) |
D80E |
probably benign |
Het |
Susd5 |
T |
C |
9: 113,911,572 (GRCm39) |
Y161H |
possibly damaging |
Het |
Syne3 |
A |
G |
12: 104,925,654 (GRCm39) |
|
probably null |
Het |
Tbcd |
G |
C |
11: 121,387,679 (GRCm39) |
|
probably benign |
Het |
Tektip1 |
T |
C |
10: 81,199,849 (GRCm39) |
D129G |
unknown |
Het |
Tmc1 |
A |
T |
19: 20,878,215 (GRCm39) |
N93K |
probably benign |
Het |
Tmem100 |
T |
A |
11: 89,926,302 (GRCm39) |
M43K |
probably benign |
Het |
Trim8 |
A |
G |
19: 46,503,903 (GRCm39) |
Q485R |
possibly damaging |
Het |
Vmn2r63 |
A |
T |
7: 42,577,919 (GRCm39) |
H206Q |
probably benign |
Het |
Vmn2r77 |
T |
A |
7: 86,452,150 (GRCm39) |
N443K |
possibly damaging |
Het |
Zan |
T |
A |
5: 137,387,578 (GRCm39) |
I4878F |
unknown |
Het |
Zfand4 |
A |
G |
6: 116,291,041 (GRCm39) |
D344G |
probably benign |
Het |
|
Other mutations in Tmem131l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00229:Tmem131l
|
APN |
3 |
83,849,807 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00777:Tmem131l
|
APN |
3 |
83,806,597 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01400:Tmem131l
|
APN |
3 |
83,829,429 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01642:Tmem131l
|
APN |
3 |
83,845,357 (GRCm39) |
missense |
possibly damaging |
0.63 |
IGL01796:Tmem131l
|
APN |
3 |
83,845,362 (GRCm39) |
nonsense |
probably null |
|
IGL02055:Tmem131l
|
APN |
3 |
83,817,673 (GRCm39) |
splice site |
probably null |
|
IGL02269:Tmem131l
|
APN |
3 |
83,845,357 (GRCm39) |
missense |
possibly damaging |
0.63 |
IGL02806:Tmem131l
|
APN |
3 |
83,836,123 (GRCm39) |
splice site |
probably benign |
|
IGL03308:Tmem131l
|
APN |
3 |
83,848,209 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03345:Tmem131l
|
APN |
3 |
83,868,896 (GRCm39) |
missense |
probably damaging |
1.00 |
R0106:Tmem131l
|
UTSW |
3 |
83,842,122 (GRCm39) |
splice site |
probably benign |
|
R0112:Tmem131l
|
UTSW |
3 |
83,847,894 (GRCm39) |
nonsense |
probably null |
|
R0212:Tmem131l
|
UTSW |
3 |
83,820,575 (GRCm39) |
missense |
probably benign |
0.19 |
R0328:Tmem131l
|
UTSW |
3 |
83,829,238 (GRCm39) |
splice site |
probably benign |
|
R0412:Tmem131l
|
UTSW |
3 |
83,938,955 (GRCm39) |
missense |
probably damaging |
1.00 |
R0544:Tmem131l
|
UTSW |
3 |
83,805,853 (GRCm39) |
missense |
probably damaging |
1.00 |
R0676:Tmem131l
|
UTSW |
3 |
83,842,122 (GRCm39) |
splice site |
probably benign |
|
R0815:Tmem131l
|
UTSW |
3 |
83,847,879 (GRCm39) |
missense |
probably benign |
0.01 |
R0826:Tmem131l
|
UTSW |
3 |
83,805,724 (GRCm39) |
missense |
probably damaging |
1.00 |
R1432:Tmem131l
|
UTSW |
3 |
83,836,021 (GRCm39) |
missense |
probably damaging |
1.00 |
R1582:Tmem131l
|
UTSW |
3 |
83,839,090 (GRCm39) |
missense |
probably damaging |
0.99 |
R1591:Tmem131l
|
UTSW |
3 |
83,848,196 (GRCm39) |
critical splice donor site |
probably null |
|
R1804:Tmem131l
|
UTSW |
3 |
83,817,786 (GRCm39) |
missense |
possibly damaging |
0.72 |
R1875:Tmem131l
|
UTSW |
3 |
83,812,383 (GRCm39) |
nonsense |
probably null |
|
R1955:Tmem131l
|
UTSW |
3 |
83,868,851 (GRCm39) |
missense |
probably damaging |
1.00 |
R2049:Tmem131l
|
UTSW |
3 |
83,850,095 (GRCm39) |
missense |
probably damaging |
1.00 |
R2125:Tmem131l
|
UTSW |
3 |
83,850,058 (GRCm39) |
critical splice donor site |
probably null |
|
R2173:Tmem131l
|
UTSW |
3 |
83,833,452 (GRCm39) |
missense |
probably damaging |
1.00 |
R2321:Tmem131l
|
UTSW |
3 |
83,843,330 (GRCm39) |
missense |
probably damaging |
0.98 |
R2407:Tmem131l
|
UTSW |
3 |
83,829,355 (GRCm39) |
missense |
probably benign |
0.25 |
R2917:Tmem131l
|
UTSW |
3 |
83,844,887 (GRCm39) |
nonsense |
probably null |
|
R3082:Tmem131l
|
UTSW |
3 |
83,816,457 (GRCm39) |
critical splice donor site |
probably null |
|
R3086:Tmem131l
|
UTSW |
3 |
83,839,046 (GRCm39) |
missense |
probably benign |
0.00 |
R3773:Tmem131l
|
UTSW |
3 |
83,805,893 (GRCm39) |
missense |
probably damaging |
1.00 |
R3921:Tmem131l
|
UTSW |
3 |
83,847,908 (GRCm39) |
missense |
possibly damaging |
0.68 |
R3953:Tmem131l
|
UTSW |
3 |
83,817,726 (GRCm39) |
missense |
probably damaging |
1.00 |
R3954:Tmem131l
|
UTSW |
3 |
83,817,726 (GRCm39) |
missense |
probably damaging |
1.00 |
R3956:Tmem131l
|
UTSW |
3 |
83,817,726 (GRCm39) |
missense |
probably damaging |
1.00 |
R4118:Tmem131l
|
UTSW |
3 |
83,868,074 (GRCm39) |
missense |
probably benign |
0.00 |
R4700:Tmem131l
|
UTSW |
3 |
83,806,519 (GRCm39) |
missense |
probably benign |
|
R4862:Tmem131l
|
UTSW |
3 |
83,805,517 (GRCm39) |
splice site |
probably benign |
|
R4941:Tmem131l
|
UTSW |
3 |
83,806,546 (GRCm39) |
missense |
probably benign |
0.03 |
R5101:Tmem131l
|
UTSW |
3 |
83,844,811 (GRCm39) |
missense |
probably damaging |
0.96 |
R5290:Tmem131l
|
UTSW |
3 |
83,806,572 (GRCm39) |
missense |
probably benign |
0.30 |
R5501:Tmem131l
|
UTSW |
3 |
83,833,435 (GRCm39) |
missense |
probably damaging |
1.00 |
R5813:Tmem131l
|
UTSW |
3 |
83,847,879 (GRCm39) |
missense |
probably benign |
0.01 |
R5845:Tmem131l
|
UTSW |
3 |
83,847,860 (GRCm39) |
missense |
probably damaging |
0.99 |
R5973:Tmem131l
|
UTSW |
3 |
83,829,553 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6119:Tmem131l
|
UTSW |
3 |
83,805,689 (GRCm39) |
missense |
probably damaging |
1.00 |
R6241:Tmem131l
|
UTSW |
3 |
83,829,471 (GRCm39) |
missense |
probably benign |
0.06 |
R6278:Tmem131l
|
UTSW |
3 |
83,849,798 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6490:Tmem131l
|
UTSW |
3 |
83,820,587 (GRCm39) |
missense |
possibly damaging |
0.67 |
R6502:Tmem131l
|
UTSW |
3 |
83,829,715 (GRCm39) |
missense |
probably damaging |
1.00 |
R6503:Tmem131l
|
UTSW |
3 |
83,848,251 (GRCm39) |
missense |
probably benign |
0.26 |
R6868:Tmem131l
|
UTSW |
3 |
83,868,938 (GRCm39) |
missense |
probably damaging |
0.99 |
R7104:Tmem131l
|
UTSW |
3 |
83,826,766 (GRCm39) |
missense |
possibly damaging |
0.68 |
R7736:Tmem131l
|
UTSW |
3 |
83,847,875 (GRCm39) |
missense |
probably damaging |
0.97 |
R7885:Tmem131l
|
UTSW |
3 |
83,817,724 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8085:Tmem131l
|
UTSW |
3 |
83,834,438 (GRCm39) |
missense |
possibly damaging |
0.81 |
R8164:Tmem131l
|
UTSW |
3 |
83,833,495 (GRCm39) |
nonsense |
probably null |
|
R8478:Tmem131l
|
UTSW |
3 |
83,805,769 (GRCm39) |
missense |
probably damaging |
0.99 |
R8677:Tmem131l
|
UTSW |
3 |
83,836,009 (GRCm39) |
missense |
probably damaging |
1.00 |
R8942:Tmem131l
|
UTSW |
3 |
83,805,793 (GRCm39) |
missense |
possibly damaging |
0.66 |
R8943:Tmem131l
|
UTSW |
3 |
83,831,479 (GRCm39) |
missense |
probably damaging |
1.00 |
R9068:Tmem131l
|
UTSW |
3 |
83,817,775 (GRCm39) |
missense |
probably benign |
0.05 |
R9096:Tmem131l
|
UTSW |
3 |
83,850,122 (GRCm39) |
missense |
probably damaging |
1.00 |
R9097:Tmem131l
|
UTSW |
3 |
83,850,122 (GRCm39) |
missense |
probably damaging |
1.00 |
R9143:Tmem131l
|
UTSW |
3 |
83,842,220 (GRCm39) |
missense |
probably benign |
0.14 |
R9273:Tmem131l
|
UTSW |
3 |
83,848,244 (GRCm39) |
missense |
probably damaging |
1.00 |
R9325:Tmem131l
|
UTSW |
3 |
83,817,768 (GRCm39) |
missense |
probably benign |
0.00 |
R9400:Tmem131l
|
UTSW |
3 |
83,830,293 (GRCm39) |
missense |
possibly damaging |
0.68 |
R9433:Tmem131l
|
UTSW |
3 |
83,845,459 (GRCm39) |
missense |
probably benign |
0.14 |
R9574:Tmem131l
|
UTSW |
3 |
83,868,911 (GRCm39) |
missense |
probably damaging |
1.00 |
R9647:Tmem131l
|
UTSW |
3 |
83,836,018 (GRCm39) |
missense |
probably damaging |
1.00 |
R9750:Tmem131l
|
UTSW |
3 |
83,831,358 (GRCm39) |
missense |
probably damaging |
1.00 |
R9796:Tmem131l
|
UTSW |
3 |
83,829,402 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Tmem131l
|
UTSW |
3 |
83,947,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCCTTTTGGAGACACTAGCTTAC -3'
(R):5'- ACAGCATAGTCCTTGTCTAGCAC -3'
Sequencing Primer
(F):5'- TAGCTTACTAGGGGAGGGATTAAATG -3'
(R):5'- TGTCTAGCACATTATAAGCAGTGGG -3'
|
Posted On |
2021-10-11 |