Incidental Mutation 'IGL00229:Tmem131l'
ID |
2468 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tmem131l
|
Ensembl Gene |
ENSMUSG00000033767 |
Gene Name |
transmembrane 131 like |
Synonyms |
D930015E06Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.138)
|
Stock # |
IGL00229
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
83804962-83947482 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 83849807 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 260
(M260K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049808
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052342]
[ENSMUST00000191758]
[ENSMUST00000192095]
|
AlphaFold |
Q3U3D7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000052342
AA Change: M260K
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000049808 Gene: ENSMUSG00000033767 AA Change: M260K
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: M260K
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000141438 Gene: ENSMUSG00000033767 AA Change: M260K
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: M260K
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000141607 Gene: ENSMUSG00000033767 AA Change: M260K
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
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
A |
G |
3: 121,964,603 (GRCm39) |
T929A |
probably damaging |
Het |
Adam6b |
G |
A |
12: 113,455,013 (GRCm39) |
R610H |
probably damaging |
Het |
Adamts12 |
T |
A |
15: 11,311,685 (GRCm39) |
M1314K |
probably benign |
Het |
Alg6 |
T |
A |
4: 99,641,291 (GRCm39) |
F152I |
probably damaging |
Het |
Aopep |
A |
G |
13: 63,347,314 (GRCm39) |
|
probably benign |
Het |
Arid5b |
A |
G |
10: 67,964,805 (GRCm39) |
S289P |
probably damaging |
Het |
Axin1 |
T |
C |
17: 26,413,046 (GRCm39) |
F780L |
probably damaging |
Het |
C9 |
C |
T |
15: 6,512,712 (GRCm39) |
S278L |
possibly damaging |
Het |
Calr4 |
A |
T |
4: 109,101,312 (GRCm39) |
I65F |
probably damaging |
Het |
Cdh23 |
A |
G |
10: 60,359,327 (GRCm39) |
V260A |
probably benign |
Het |
Ddx25 |
T |
C |
9: 35,454,891 (GRCm39) |
|
probably benign |
Het |
Dppa4 |
A |
G |
16: 48,111,446 (GRCm39) |
T92A |
possibly damaging |
Het |
Ercc5 |
T |
C |
1: 44,203,058 (GRCm39) |
Y232H |
probably damaging |
Het |
Exoc4 |
A |
G |
6: 33,895,334 (GRCm39) |
|
probably null |
Het |
Fam149a |
A |
G |
8: 45,804,823 (GRCm39) |
V253A |
probably damaging |
Het |
Fam209 |
C |
T |
2: 172,316,102 (GRCm39) |
T159I |
probably damaging |
Het |
Gcfc2 |
A |
T |
6: 81,912,996 (GRCm39) |
N265I |
probably damaging |
Het |
Glud1 |
T |
C |
14: 34,058,087 (GRCm39) |
V366A |
probably benign |
Het |
Hdac10 |
T |
C |
15: 89,012,645 (GRCm39) |
T3A |
probably damaging |
Het |
Ifnar1 |
T |
C |
16: 91,286,670 (GRCm39) |
S54P |
probably damaging |
Het |
Itpr2 |
T |
C |
6: 146,045,683 (GRCm39) |
Y2561C |
probably damaging |
Het |
Klhl30 |
A |
G |
1: 91,281,879 (GRCm39) |
E160G |
possibly damaging |
Het |
Kmt2d |
A |
T |
15: 98,760,214 (GRCm39) |
S1015T |
unknown |
Het |
Lactb2 |
A |
G |
1: 13,730,598 (GRCm39) |
M26T |
probably damaging |
Het |
Lactbl1 |
A |
T |
4: 136,358,362 (GRCm39) |
D111V |
probably damaging |
Het |
Lig4 |
T |
C |
8: 10,022,775 (GRCm39) |
Y335C |
probably damaging |
Het |
Lrrc8e |
T |
A |
8: 4,285,921 (GRCm39) |
D715E |
probably benign |
Het |
Med6 |
A |
T |
12: 81,626,348 (GRCm39) |
V142D |
possibly damaging |
Het |
Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
Mettl13 |
A |
G |
1: 162,363,434 (GRCm39) |
V600A |
possibly damaging |
Het |
Mpdz |
A |
T |
4: 81,228,461 (GRCm39) |
C1314* |
probably null |
Het |
Nbeal2 |
A |
G |
9: 110,464,937 (GRCm39) |
V1009A |
probably damaging |
Het |
Nmur2 |
A |
G |
11: 55,931,603 (GRCm39) |
L36P |
probably damaging |
Het |
Nudt2 |
T |
A |
4: 41,480,474 (GRCm39) |
L119Q |
probably damaging |
Het |
Or5b117 |
T |
C |
19: 13,431,204 (GRCm39) |
M226V |
possibly damaging |
Het |
Osbpl3 |
C |
T |
6: 50,300,048 (GRCm39) |
E519K |
probably damaging |
Het |
Pak6 |
A |
T |
2: 118,520,326 (GRCm39) |
T106S |
possibly damaging |
Het |
Pggt1b |
T |
G |
18: 46,413,786 (GRCm39) |
Q34P |
probably benign |
Het |
Phactr4 |
T |
C |
4: 132,098,303 (GRCm39) |
T322A |
possibly damaging |
Het |
Plekhj1 |
T |
C |
10: 80,632,436 (GRCm39) |
|
probably null |
Het |
Pnpt1 |
T |
C |
11: 29,104,217 (GRCm39) |
|
probably null |
Het |
Pramel32 |
A |
G |
4: 88,547,290 (GRCm39) |
I214T |
probably damaging |
Het |
Prr14l |
T |
C |
5: 32,988,020 (GRCm39) |
I492V |
probably benign |
Het |
Ranbp2 |
C |
A |
10: 58,313,078 (GRCm39) |
A1266E |
probably damaging |
Het |
Riok3 |
G |
A |
18: 12,270,077 (GRCm39) |
D140N |
probably damaging |
Het |
Rsph4a |
G |
A |
10: 33,790,339 (GRCm39) |
E643K |
probably damaging |
Het |
Scara3 |
T |
G |
14: 66,170,570 (GRCm39) |
E103A |
probably benign |
Het |
Sgk3 |
T |
C |
1: 9,938,609 (GRCm39) |
V33A |
probably damaging |
Het |
Slc38a4 |
A |
G |
15: 96,897,375 (GRCm39) |
F480S |
probably damaging |
Het |
Slc44a1 |
G |
A |
4: 53,543,571 (GRCm39) |
V372M |
probably damaging |
Het |
Slc9a2 |
A |
G |
1: 40,806,897 (GRCm39) |
Y728C |
probably benign |
Het |
Sox4 |
C |
A |
13: 29,136,956 (GRCm39) |
G17W |
probably damaging |
Het |
Spidr |
A |
T |
16: 15,713,442 (GRCm39) |
L847Q |
probably damaging |
Het |
Sptb |
A |
G |
12: 76,667,527 (GRCm39) |
S857P |
probably benign |
Het |
Syde1 |
A |
G |
10: 78,421,643 (GRCm39) |
V636A |
probably damaging |
Het |
Syna |
A |
G |
5: 134,588,571 (GRCm39) |
L126P |
possibly damaging |
Het |
Taar2 |
A |
G |
10: 23,817,266 (GRCm39) |
T269A |
possibly damaging |
Het |
Tapbp |
C |
T |
17: 34,144,678 (GRCm39) |
T258I |
probably damaging |
Het |
Tcf20 |
T |
A |
15: 82,741,343 (GRCm39) |
Q36L |
possibly damaging |
Het |
Tnc |
T |
A |
4: 63,935,061 (GRCm39) |
|
probably benign |
Het |
Ugp2 |
T |
A |
11: 21,304,345 (GRCm39) |
E27D |
probably benign |
Het |
Vps35l |
T |
A |
7: 118,403,414 (GRCm39) |
|
probably benign |
Het |
Wdr27 |
A |
T |
17: 15,148,572 (GRCm39) |
C140* |
probably null |
Het |
Wnt2b |
T |
C |
3: 104,860,449 (GRCm39) |
T153A |
possibly damaging |
Het |
Xirp2 |
A |
T |
2: 67,343,719 (GRCm39) |
T1987S |
probably benign |
Het |
Zfp36l1 |
C |
A |
12: 80,157,238 (GRCm39) |
G48C |
probably damaging |
Het |
Zfp474 |
A |
T |
18: 52,771,565 (GRCm39) |
I73F |
possibly damaging |
Het |
Zfp790 |
T |
A |
7: 29,527,988 (GRCm39) |
F224L |
probably benign |
Het |
|
Other mutations in Tmem131l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
Posted On |
2011-12-09 |