Incidental Mutation 'IGL01642:Tmem131l'
| ID |
93679 |
| 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: 0.122)
|
| Stock # |
IGL01642
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
83804962-83947482 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 83845357 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 424
(D424E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049808
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052342]
[ENSMUST00000191758]
[ENSMUST00000192095]
|
| AlphaFold |
Q3U3D7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052342
AA Change: D424E
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000049808
Gene: ENSMUSG00000033767
AA Change: D424E
| 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 |
possibly damaging
Transcript: ENSMUST00000191758
AA Change: D424E
PolyPhen 2
Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000141438
Gene: ENSMUSG00000033767
AA Change: D424E
| 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 |
possibly damaging
Transcript: ENSMUST00000192095
AA Change: D424E
PolyPhen 2
Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000141607
Gene: ENSMUSG00000033767
AA Change: D424E
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aanat |
A |
G |
11: 116,486,514 (GRCm39) |
T18A |
possibly damaging |
Het |
| Abat |
A |
T |
16: 8,418,783 (GRCm39) |
I126F |
possibly damaging |
Het |
| Adcy6 |
G |
A |
15: 98,492,390 (GRCm39) |
A958V |
possibly damaging |
Het |
| Ago2 |
T |
C |
15: 72,995,239 (GRCm39) |
I447V |
probably benign |
Het |
| Arid1a |
A |
G |
4: 133,409,155 (GRCm39) |
V1784A |
unknown |
Het |
| Atp1b1 |
A |
G |
1: 164,285,330 (GRCm39) |
F33L |
probably benign |
Het |
| Bpnt1 |
G |
A |
1: 185,086,238 (GRCm39) |
V198I |
probably benign |
Het |
| Cemip2 |
T |
A |
19: 21,801,265 (GRCm39) |
I794N |
probably damaging |
Het |
| Cfap251 |
T |
C |
5: 123,426,761 (GRCm39) |
V383A |
possibly damaging |
Het |
| Cgas |
G |
A |
9: 78,344,680 (GRCm39) |
P247L |
probably damaging |
Het |
| Clip3 |
G |
A |
7: 29,998,287 (GRCm39) |
M244I |
probably benign |
Het |
| Clip3 |
A |
T |
7: 29,996,494 (GRCm39) |
|
probably benign |
Het |
| Cyp2a22 |
A |
T |
7: 26,638,184 (GRCm39) |
N107K |
possibly damaging |
Het |
| Cyp2c23 |
A |
T |
19: 43,993,995 (GRCm39) |
L457Q |
probably damaging |
Het |
| Dbr1 |
A |
G |
9: 99,458,031 (GRCm39) |
Y17C |
probably damaging |
Het |
| Drc7 |
G |
A |
8: 95,785,767 (GRCm39) |
V208I |
probably benign |
Het |
| Dst |
T |
A |
1: 34,228,470 (GRCm39) |
L2021Q |
probably damaging |
Het |
| E2f4 |
C |
A |
8: 106,027,968 (GRCm39) |
P299T |
probably damaging |
Het |
| Eef1b2 |
T |
C |
1: 63,216,990 (GRCm39) |
L53P |
probably damaging |
Het |
| Enpp3 |
T |
C |
10: 24,674,167 (GRCm39) |
T378A |
probably damaging |
Het |
| Eps15 |
A |
G |
4: 109,223,670 (GRCm39) |
N302S |
probably benign |
Het |
| Esrrg |
G |
A |
1: 187,943,112 (GRCm39) |
V362M |
probably benign |
Het |
| Gcc2 |
T |
A |
10: 58,116,434 (GRCm39) |
N1014K |
probably benign |
Het |
| Gm3099 |
T |
A |
14: 15,346,476 (GRCm39) |
M114K |
possibly damaging |
Het |
| Gnptab |
C |
T |
10: 88,271,994 (GRCm39) |
T928I |
possibly damaging |
Het |
| Gpd2 |
A |
T |
2: 57,158,083 (GRCm39) |
R31* |
probably null |
Het |
| Impdh1 |
T |
C |
6: 29,207,165 (GRCm39) |
T60A |
possibly damaging |
Het |
| Kcnab3 |
A |
G |
11: 69,221,256 (GRCm39) |
E191G |
probably benign |
Het |
| Kcnh5 |
A |
G |
12: 75,011,943 (GRCm39) |
S659P |
probably damaging |
Het |
| Kl |
T |
C |
5: 150,904,334 (GRCm39) |
I362T |
possibly damaging |
Het |
| Kpna4 |
A |
G |
3: 68,993,117 (GRCm39) |
V414A |
probably damaging |
Het |
| Magi1 |
G |
A |
6: 93,663,605 (GRCm39) |
P1111S |
possibly damaging |
Het |
| Myo18a |
A |
G |
11: 77,755,558 (GRCm39) |
D1965G |
probably benign |
Het |
| Nadsyn1 |
G |
A |
7: 143,351,615 (GRCm39) |
P673S |
probably damaging |
Het |
| Naip2 |
A |
G |
13: 100,297,445 (GRCm39) |
S864P |
probably damaging |
Het |
| Or10ak16 |
A |
G |
4: 118,750,658 (GRCm39) |
Y126C |
probably damaging |
Het |
| Or2d2b |
A |
T |
7: 106,706,029 (GRCm39) |
I13N |
possibly damaging |
Het |
| Or2f1 |
G |
T |
6: 42,721,486 (GRCm39) |
V172L |
probably benign |
Het |
| Paics |
T |
A |
5: 77,109,357 (GRCm39) |
|
probably benign |
Het |
| Papss1 |
G |
T |
3: 131,288,996 (GRCm39) |
|
probably benign |
Het |
| Pax3 |
A |
G |
1: 78,173,300 (GRCm39) |
|
probably null |
Het |
| Pgbd5 |
T |
G |
8: 125,110,941 (GRCm39) |
Q159P |
probably benign |
Het |
| Pkd1 |
A |
G |
17: 24,800,266 (GRCm39) |
Y3009C |
probably damaging |
Het |
| Pla2g4d |
T |
C |
2: 120,111,117 (GRCm39) |
T161A |
probably damaging |
Het |
| Podxl2 |
T |
A |
6: 88,820,529 (GRCm39) |
Y521F |
probably damaging |
Het |
| Pramel34 |
A |
G |
5: 93,784,154 (GRCm39) |
Y437H |
possibly damaging |
Het |
| Prmt2 |
C |
T |
10: 76,058,327 (GRCm39) |
G161S |
probably damaging |
Het |
| Rft1 |
C |
T |
14: 30,398,825 (GRCm39) |
T265I |
probably damaging |
Het |
| Rims2 |
T |
A |
15: 39,321,192 (GRCm39) |
L736M |
probably damaging |
Het |
| Slf1 |
C |
T |
13: 77,198,034 (GRCm39) |
A747T |
probably benign |
Het |
| Snx2 |
A |
G |
18: 53,349,519 (GRCm39) |
K427E |
probably damaging |
Het |
| Tnxb |
A |
G |
17: 34,937,488 (GRCm39) |
T3826A |
probably damaging |
Het |
| Tpp2 |
T |
C |
1: 43,993,813 (GRCm39) |
Y233H |
probably damaging |
Het |
| Ubl4b |
C |
A |
3: 107,462,147 (GRCm39) |
E38* |
probably null |
Het |
| Usp5 |
A |
T |
6: 124,797,416 (GRCm39) |
I486N |
probably damaging |
Het |
| Vmn1r193 |
A |
C |
13: 22,403,794 (GRCm39) |
L66R |
probably damaging |
Het |
| Vps13b |
T |
C |
15: 35,792,218 (GRCm39) |
I2162T |
probably benign |
Het |
| Wipf2 |
T |
C |
11: 98,781,650 (GRCm39) |
V63A |
probably benign |
Het |
| Zfp735 |
G |
T |
11: 73,601,305 (GRCm39) |
C83F |
possibly damaging |
Het |
| Zfyve26 |
T |
C |
12: 79,308,348 (GRCm39) |
|
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 |
|
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 |
2013-12-09 |
Incidental Mutation