Incidental Mutation 'R1875:Tmem131l'
ID |
211117 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem131l
|
Ensembl Gene |
ENSMUSG00000033767 |
Gene Name |
transmembrane 131 like |
Synonyms |
D930015E06Rik |
MMRRC Submission |
039897-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.138)
|
Stock # |
R1875 (G1)
|
Quality Score |
219 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
83804962-83947482 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 83812383 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 1313
(C1313*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141607
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052342]
[ENSMUST00000191758]
[ENSMUST00000192095]
|
AlphaFold |
Q3U3D7 |
Predicted Effect |
probably null
Transcript: ENSMUST00000052342
AA Change: C1313*
|
SMART Domains |
Protein: ENSMUSP00000049808 Gene: ENSMUSG00000033767 AA Change: C1313*
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
AA Change: C1375*
|
SMART Domains |
Protein: ENSMUSP00000141438 Gene: ENSMUSG00000033767 AA Change: C1375*
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
AA Change: C1313*
|
SMART Domains |
Protein: ENSMUSP00000141607 Gene: ENSMUSG00000033767 AA Change: C1313*
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: ENSMUST00000194993
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195245
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199411
|
Meta Mutation Damage Score |
0.9639 |
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 92.1%
|
Validation Efficiency |
98% (85/87) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
A |
T |
7: 119,847,190 (GRCm39) |
M685L |
possibly damaging |
Het |
Abi3bp |
A |
G |
16: 56,394,862 (GRCm39) |
Y190C |
probably damaging |
Het |
Adam26a |
C |
A |
8: 44,022,888 (GRCm39) |
V201L |
probably benign |
Het |
Adamts20 |
G |
T |
15: 94,229,277 (GRCm39) |
D947E |
probably benign |
Het |
Ankrd26 |
A |
G |
6: 118,517,410 (GRCm39) |
|
probably null |
Het |
Apol11a |
C |
A |
15: 77,397,766 (GRCm39) |
T39N |
possibly damaging |
Het |
Arhgef38 |
T |
A |
3: 132,839,501 (GRCm39) |
|
probably null |
Het |
Armh4 |
T |
C |
14: 49,919,815 (GRCm39) |
D772G |
probably damaging |
Het |
Atp11b |
T |
C |
3: 35,893,296 (GRCm39) |
L883P |
probably damaging |
Het |
Btnl10 |
T |
A |
11: 58,814,586 (GRCm39) |
I422N |
probably damaging |
Het |
C2cd3 |
A |
G |
7: 100,056,232 (GRCm39) |
K547E |
possibly damaging |
Het |
Cdh2 |
T |
A |
18: 16,757,934 (GRCm39) |
L549F |
probably benign |
Het |
Celsr3 |
T |
C |
9: 108,713,037 (GRCm39) |
V1825A |
probably benign |
Het |
Cfap221 |
T |
C |
1: 119,881,389 (GRCm39) |
I358V |
probably benign |
Het |
Cimap2 |
G |
A |
4: 106,470,453 (GRCm39) |
|
probably benign |
Het |
Csmd1 |
T |
C |
8: 15,979,101 (GRCm39) |
K2828E |
probably damaging |
Het |
Ddah2 |
T |
C |
17: 35,279,821 (GRCm39) |
F137S |
probably damaging |
Het |
Ddx21 |
A |
G |
10: 62,429,847 (GRCm39) |
I299T |
probably damaging |
Het |
Dnah7a |
A |
T |
1: 53,495,691 (GRCm39) |
|
probably benign |
Het |
Elmod1 |
A |
G |
9: 53,843,151 (GRCm39) |
I9T |
probably benign |
Het |
Epha2 |
A |
G |
4: 141,036,290 (GRCm39) |
E242G |
probably benign |
Het |
Erbb3 |
T |
C |
10: 128,410,335 (GRCm39) |
H641R |
possibly damaging |
Het |
Fbxl18 |
G |
A |
5: 142,871,978 (GRCm39) |
A419V |
probably damaging |
Het |
Fli1 |
T |
C |
9: 32,335,209 (GRCm39) |
M408V |
probably benign |
Het |
Fmo4 |
T |
C |
1: 162,631,187 (GRCm39) |
N260S |
possibly damaging |
Het |
Fry |
A |
G |
5: 150,249,597 (GRCm39) |
E136G |
probably damaging |
Het |
Gm10477 |
T |
A |
X: 55,570,127 (GRCm39) |
F9Y |
probably damaging |
Het |
Gm8258 |
A |
G |
5: 104,924,320 (GRCm39) |
|
noncoding transcript |
Het |
Gpr68 |
T |
A |
12: 100,845,049 (GRCm39) |
D165V |
probably damaging |
Het |
Htt |
T |
A |
5: 34,951,456 (GRCm39) |
M139K |
probably benign |
Het |
Jup |
A |
G |
11: 100,263,120 (GRCm39) |
|
probably null |
Het |
Kifc5b |
G |
A |
17: 27,136,264 (GRCm39) |
|
probably null |
Het |
Krba1 |
T |
A |
6: 48,390,983 (GRCm39) |
|
probably null |
Het |
Lamp1 |
G |
A |
8: 13,217,257 (GRCm39) |
G89R |
probably damaging |
Het |
Lrrc17 |
C |
T |
5: 21,765,650 (GRCm39) |
S44F |
possibly damaging |
Het |
Mdga1 |
T |
C |
17: 30,071,581 (GRCm39) |
T347A |
probably damaging |
Het |
Mical3 |
A |
T |
6: 121,019,025 (GRCm39) |
W66R |
probably damaging |
Het |
Mpl |
A |
G |
4: 118,314,026 (GRCm39) |
Y73H |
probably benign |
Het |
Mterf1b |
T |
A |
5: 4,247,364 (GRCm39) |
I335N |
possibly damaging |
Het |
Mylk3 |
A |
G |
8: 86,079,494 (GRCm39) |
I388T |
probably damaging |
Het |
Myo15a |
C |
T |
11: 60,398,354 (GRCm39) |
R2775W |
probably damaging |
Het |
Myoz2 |
A |
T |
3: 122,819,765 (GRCm39) |
S65T |
probably damaging |
Het |
Ndrg1 |
T |
C |
15: 66,802,940 (GRCm39) |
T137A |
possibly damaging |
Het |
Neil3 |
G |
T |
8: 54,052,454 (GRCm39) |
N381K |
probably damaging |
Het |
Obsl1 |
T |
C |
1: 75,474,877 (GRCm39) |
Y841C |
probably damaging |
Het |
Or2b4 |
A |
G |
17: 38,115,996 (GRCm39) |
|
probably benign |
Het |
Or6b6 |
G |
A |
7: 106,571,389 (GRCm39) |
S54F |
possibly damaging |
Het |
Otogl |
T |
C |
10: 107,735,451 (GRCm39) |
D111G |
probably damaging |
Het |
Parp10 |
T |
C |
15: 76,127,051 (GRCm39) |
E103G |
probably damaging |
Het |
Pars2 |
T |
C |
4: 106,510,913 (GRCm39) |
F232L |
possibly damaging |
Het |
Pcdh18 |
A |
T |
3: 49,709,154 (GRCm39) |
F720L |
probably damaging |
Het |
Phf3 |
T |
C |
1: 30,869,704 (GRCm39) |
E448G |
possibly damaging |
Het |
Pigc |
A |
G |
1: 161,798,516 (GRCm39) |
Y166C |
probably damaging |
Het |
Pik3c2a |
A |
T |
7: 116,017,206 (GRCm39) |
S184T |
probably benign |
Het |
Pkd1l1 |
A |
G |
11: 8,794,670 (GRCm39) |
|
probably benign |
Het |
Plch2 |
G |
A |
4: 155,082,965 (GRCm39) |
S485F |
probably damaging |
Het |
Plxnd1 |
G |
T |
6: 115,955,045 (GRCm39) |
|
probably null |
Het |
Pnliprp2 |
G |
T |
19: 58,751,821 (GRCm39) |
V189L |
probably benign |
Het |
Prl8a2 |
T |
C |
13: 27,535,037 (GRCm39) |
V103A |
probably benign |
Het |
Psg23 |
G |
A |
7: 18,344,375 (GRCm39) |
T360I |
probably benign |
Het |
Rad51c |
A |
T |
11: 87,279,469 (GRCm39) |
I323N |
probably damaging |
Het |
Rsbn1l |
C |
T |
5: 21,156,696 (GRCm39) |
E30K |
probably benign |
Het |
Serpina3c |
C |
A |
12: 104,118,145 (GRCm39) |
L64F |
probably damaging |
Het |
Shroom1 |
A |
G |
11: 53,356,502 (GRCm39) |
D392G |
probably damaging |
Het |
Slc26a5 |
T |
A |
5: 22,020,725 (GRCm39) |
I540L |
probably benign |
Het |
Slc37a4 |
A |
G |
9: 44,312,808 (GRCm39) |
T321A |
probably damaging |
Het |
Slc41a2 |
A |
G |
10: 83,091,949 (GRCm39) |
L438S |
probably damaging |
Het |
Spef2 |
C |
T |
15: 9,584,194 (GRCm39) |
E1624K |
probably damaging |
Het |
Spef2 |
C |
T |
15: 9,597,487 (GRCm39) |
G1390R |
possibly damaging |
Het |
Spmap2l |
A |
T |
5: 77,202,431 (GRCm39) |
K284M |
probably benign |
Het |
Synj2 |
G |
T |
17: 6,078,825 (GRCm39) |
A740S |
possibly damaging |
Het |
Tigd4 |
A |
C |
3: 84,502,394 (GRCm39) |
D437A |
probably benign |
Het |
Timm21 |
G |
C |
18: 84,967,387 (GRCm39) |
L130V |
probably damaging |
Het |
Tmem106a |
CAGCTCAACACGACGGTA |
CAGCTCAACACGACGGTAAGCTCAACACGACGGTA |
11: 101,477,204 (GRCm39) |
|
probably benign |
Het |
Tmem86b |
A |
T |
7: 4,632,698 (GRCm39) |
I47N |
possibly damaging |
Het |
Tspan13 |
T |
C |
12: 36,070,550 (GRCm39) |
|
probably null |
Het |
Vps54 |
A |
G |
11: 21,250,251 (GRCm39) |
T396A |
probably benign |
Het |
Zfp106 |
A |
T |
2: 120,344,096 (GRCm39) |
|
probably null |
Het |
Zfp668 |
T |
C |
7: 127,465,654 (GRCm39) |
|
probably null |
Het |
Zfp809 |
A |
T |
9: 22,150,027 (GRCm39) |
R175* |
probably null |
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 |
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'- GGTGTTCACACTGATGCAGAATG -3'
(R):5'- CACGGTAGTCCAGTTGGTTG -3'
Sequencing Primer
(F):5'- TCACACTGATGCAGAATGCTTGG -3'
(R):5'- GTTTCAGGCAAGACGTCATAGTATCC -3'
|
Posted On |
2014-06-30 |