Incidental Mutation 'R1591:Tmem131l'
ID |
175467 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem131l
|
Ensembl Gene |
ENSMUSG00000033767 |
Gene Name |
transmembrane 131 like |
Synonyms |
D930015E06Rik |
MMRRC Submission |
039628-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.138)
|
Stock # |
R1591 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
83804962-83947482 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 83848196 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141607
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052342]
[ENSMUST00000052342]
[ENSMUST00000191758]
[ENSMUST00000192095]
|
AlphaFold |
Q3U3D7 |
Predicted Effect |
probably null
Transcript: ENSMUST00000052342
|
SMART Domains |
Protein: ENSMUSP00000049808 Gene: ENSMUSG00000033767
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 null
Transcript: ENSMUST00000052342
|
SMART Domains |
Protein: ENSMUSP00000049808 Gene: ENSMUSG00000033767
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 null
Transcript: ENSMUST00000191758
|
SMART Domains |
Protein: ENSMUSP00000141438 Gene: ENSMUSG00000033767
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 null
Transcript: ENSMUST00000192095
|
SMART Domains |
Protein: ENSMUSP00000141607 Gene: ENSMUSG00000033767
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194432
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194522
|
Meta Mutation Damage Score |
0.9493 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.7%
|
Validation Efficiency |
100% (80/80) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abraxas1 |
G |
T |
5: 100,957,505 (GRCm39) |
Q201K |
probably benign |
Het |
Acacb |
A |
T |
5: 114,341,484 (GRCm39) |
I829F |
possibly damaging |
Het |
Acvr1b |
G |
T |
15: 101,091,905 (GRCm39) |
V62L |
probably benign |
Het |
Adam6b |
A |
T |
12: 113,453,452 (GRCm39) |
I90F |
probably benign |
Het |
Adgrf1 |
T |
C |
17: 43,621,872 (GRCm39) |
L703P |
probably damaging |
Het |
Arf3 |
T |
C |
15: 98,640,669 (GRCm39) |
|
probably benign |
Het |
Asns |
T |
C |
6: 7,678,007 (GRCm39) |
D357G |
probably damaging |
Het |
Atr |
T |
C |
9: 95,827,438 (GRCm39) |
M2461T |
probably damaging |
Het |
B3galt4 |
G |
A |
17: 34,169,813 (GRCm39) |
R142C |
probably damaging |
Het |
Bod1l |
T |
C |
5: 41,976,563 (GRCm39) |
I1584V |
probably benign |
Het |
Bub3 |
T |
C |
7: 131,163,337 (GRCm39) |
|
probably null |
Het |
Camkk2 |
A |
G |
5: 122,895,621 (GRCm39) |
|
probably null |
Het |
Cand1 |
G |
T |
10: 119,047,774 (GRCm39) |
T572K |
possibly damaging |
Het |
Caprin2 |
A |
T |
6: 148,774,606 (GRCm39) |
S235R |
possibly damaging |
Het |
Cdh24 |
T |
C |
14: 54,873,799 (GRCm39) |
T452A |
probably benign |
Het |
Cdh4 |
T |
C |
2: 179,528,657 (GRCm39) |
|
probably null |
Het |
Cfap61 |
A |
G |
2: 145,987,378 (GRCm39) |
R1060G |
probably benign |
Het |
Chd9 |
A |
G |
8: 91,710,166 (GRCm39) |
D314G |
probably damaging |
Het |
Cplx3 |
C |
T |
9: 57,523,085 (GRCm39) |
V125I |
probably benign |
Het |
Csmd1 |
T |
A |
8: 15,950,710 (GRCm39) |
I3500F |
probably damaging |
Het |
Dnah1 |
G |
T |
14: 30,994,289 (GRCm39) |
Q2858K |
probably benign |
Het |
Dnah6 |
C |
T |
6: 73,053,583 (GRCm39) |
E2884K |
probably benign |
Het |
Ecm1 |
G |
A |
3: 95,643,275 (GRCm39) |
R342C |
probably damaging |
Het |
Exosc10 |
T |
A |
4: 148,652,840 (GRCm39) |
I485N |
probably benign |
Het |
Fap |
T |
C |
2: 62,384,201 (GRCm39) |
K2E |
probably damaging |
Het |
Fgfr1 |
G |
A |
8: 26,062,736 (GRCm39) |
G671D |
probably damaging |
Het |
Fzr1 |
C |
T |
10: 81,206,201 (GRCm39) |
R162Q |
possibly damaging |
Het |
Grap2 |
A |
T |
15: 80,532,649 (GRCm39) |
Y272F |
probably damaging |
Het |
Il11ra1 |
T |
A |
4: 41,766,200 (GRCm39) |
W246R |
probably damaging |
Het |
Kcna3 |
A |
T |
3: 106,944,345 (GRCm39) |
I203F |
probably damaging |
Het |
Kcng1 |
T |
C |
2: 168,110,630 (GRCm39) |
E178G |
possibly damaging |
Het |
Kif19a |
A |
C |
11: 114,680,057 (GRCm39) |
H798P |
probably benign |
Het |
Kif21b |
T |
C |
1: 136,077,055 (GRCm39) |
L359P |
probably damaging |
Het |
Krt6a |
A |
T |
15: 101,600,792 (GRCm39) |
|
probably null |
Het |
Lrp1 |
C |
T |
10: 127,441,475 (GRCm39) |
S216N |
probably benign |
Het |
Lrp3 |
A |
G |
7: 34,901,790 (GRCm39) |
V676A |
probably benign |
Het |
Lrrc63 |
T |
A |
14: 75,363,332 (GRCm39) |
K266N |
possibly damaging |
Het |
Mccc1 |
C |
T |
3: 36,044,006 (GRCm39) |
V246M |
probably damaging |
Het |
Mdn1 |
T |
C |
4: 32,700,092 (GRCm39) |
V1395A |
possibly damaging |
Het |
Mmrn1 |
A |
T |
6: 60,921,755 (GRCm39) |
R71* |
probably null |
Het |
Mrps2 |
C |
T |
2: 28,359,500 (GRCm39) |
A119V |
probably benign |
Het |
Ogdh |
T |
C |
11: 6,299,384 (GRCm39) |
F750S |
probably damaging |
Het |
Or1ak2 |
C |
A |
2: 36,827,990 (GRCm39) |
N286K |
probably damaging |
Het |
Or51aa2 |
T |
G |
7: 103,188,274 (GRCm39) |
T56P |
probably benign |
Het |
Or5p60 |
T |
A |
7: 107,723,571 (GRCm39) |
I300F |
possibly damaging |
Het |
Or8b3 |
A |
G |
9: 38,314,232 (GRCm39) |
T18A |
probably damaging |
Het |
Or8b42 |
A |
T |
9: 38,341,707 (GRCm39) |
N43I |
probably damaging |
Het |
Osbpl11 |
A |
C |
16: 33,030,353 (GRCm39) |
I194L |
probably benign |
Het |
Pacsin2 |
T |
C |
15: 83,269,252 (GRCm39) |
E14G |
probably damaging |
Het |
Pate7 |
T |
C |
9: 35,687,952 (GRCm39) |
D96G |
probably damaging |
Het |
Pcdh7 |
A |
G |
5: 57,877,764 (GRCm39) |
T440A |
probably damaging |
Het |
Pcdhb17 |
T |
C |
18: 37,618,878 (GRCm39) |
S223P |
probably damaging |
Het |
Pik3c2g |
G |
A |
6: 139,693,904 (GRCm39) |
R109K |
probably benign |
Het |
Ppp2ca |
T |
C |
11: 51,989,916 (GRCm39) |
I14T |
possibly damaging |
Het |
Rdh12 |
A |
T |
12: 79,258,278 (GRCm39) |
T102S |
probably damaging |
Het |
Rsf1 |
T |
A |
7: 97,288,520 (GRCm39) |
C132* |
probably null |
Het |
Rufy1 |
G |
A |
11: 50,285,755 (GRCm39) |
L621F |
probably damaging |
Het |
Ruvbl2 |
C |
T |
7: 45,074,135 (GRCm39) |
R253H |
possibly damaging |
Het |
Sdf2 |
A |
G |
11: 78,145,819 (GRCm39) |
E172G |
probably damaging |
Het |
Skint5 |
C |
T |
4: 113,856,651 (GRCm39) |
|
probably null |
Het |
Slc25a27 |
A |
G |
17: 43,964,315 (GRCm39) |
I185T |
probably benign |
Het |
Slc41a3 |
A |
C |
6: 90,610,677 (GRCm39) |
K180Q |
probably benign |
Het |
Slc7a14 |
A |
C |
3: 31,291,598 (GRCm39) |
F227V |
probably damaging |
Het |
Smg1 |
T |
C |
7: 117,756,142 (GRCm39) |
|
probably benign |
Het |
St6galnac1 |
A |
T |
11: 116,656,689 (GRCm39) |
D483E |
probably damaging |
Het |
Tes |
A |
G |
6: 17,097,441 (GRCm39) |
K183R |
probably damaging |
Het |
Tgfbr1 |
G |
T |
4: 47,403,471 (GRCm39) |
D290Y |
probably damaging |
Het |
Tifab |
T |
A |
13: 56,324,164 (GRCm39) |
Y93F |
probably benign |
Het |
Tnfrsf21 |
T |
A |
17: 43,396,265 (GRCm39) |
S516R |
probably benign |
Het |
Ttn |
T |
C |
2: 76,606,389 (GRCm39) |
Y18140C |
probably damaging |
Het |
Unc13b |
T |
A |
4: 43,244,747 (GRCm39) |
S3692T |
probably damaging |
Het |
Vwa8 |
C |
T |
14: 79,145,670 (GRCm39) |
R116C |
probably damaging |
Het |
Zfp113 |
T |
C |
5: 138,149,459 (GRCm39) |
|
probably benign |
Het |
Zfp26 |
T |
C |
9: 20,348,921 (GRCm39) |
T548A |
probably benign |
Het |
Zfp870 |
C |
T |
17: 33,102,990 (GRCm39) |
G114D |
probably damaging |
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 |
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 |
R8973:Tmem131l
|
UTSW |
3 |
83,836,039 (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'- CGCTGACAGTCTTCACACAAACAGG -3'
(R):5'- TTGATCCCCAGCATTGAACTCATCC -3'
Sequencing Primer
(F):5'- GGTGCTCAATCAAGGGACAG -3'
(R):5'- CGTATTTTCCATTCAAGTTCAGTG -3'
|
Posted On |
2014-04-24 |