Incidental Mutation 'R5973:Tmem131l'
| ID |
471522 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem131l
|
| Ensembl Gene |
ENSMUSG00000033767 |
| Gene Name |
transmembrane 131 like |
| Synonyms |
D930015E06Rik |
| MMRRC Submission |
044156-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.138)
|
| Stock # |
R5973 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
83804962-83947482 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 83829553 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 1035
(A1035T)
|
| 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: A1035T
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000049808
Gene: ENSMUSG00000033767
AA Change: A1035T
| 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: A1035T
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000141438
Gene: ENSMUSG00000033767
AA Change: A1035T
| 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: A1034T
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000141607
Gene: ENSMUSG00000033767
AA Change: A1034T
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
T |
A |
5: 114,364,928 (GRCm39) |
I1536N |
probably damaging |
Het |
| Actr1b |
A |
G |
1: 36,741,162 (GRCm39) |
S140P |
probably damaging |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Anapc7 |
A |
T |
5: 122,566,366 (GRCm39) |
T92S |
probably benign |
Het |
| Ash2l |
G |
A |
8: 26,307,642 (GRCm39) |
T585M |
possibly damaging |
Het |
| Asxl1 |
T |
C |
2: 153,243,931 (GRCm39) |
F1495L |
probably damaging |
Het |
| Atp5pf |
T |
C |
16: 84,625,328 (GRCm39) |
|
probably null |
Het |
| Bcl2a1c |
A |
G |
9: 114,159,465 (GRCm39) |
N81S |
probably benign |
Het |
| Bfsp2 |
A |
C |
9: 103,309,856 (GRCm39) |
|
probably null |
Het |
| Casq1 |
A |
G |
1: 172,047,068 (GRCm39) |
Y64H |
probably damaging |
Het |
| Ceacam16 |
A |
G |
7: 19,590,262 (GRCm39) |
V227A |
probably damaging |
Het |
| Cers6 |
T |
A |
2: 68,898,969 (GRCm39) |
|
probably null |
Het |
| Chrnb1 |
A |
G |
11: 69,686,671 (GRCm39) |
|
probably benign |
Het |
| Clpb |
G |
A |
7: 101,313,204 (GRCm39) |
V63I |
probably benign |
Het |
| Dnah11 |
G |
T |
12: 118,074,687 (GRCm39) |
D1388E |
probably benign |
Het |
| Dst |
T |
C |
1: 34,195,938 (GRCm39) |
L405P |
probably damaging |
Het |
| Dstyk |
A |
G |
1: 132,362,149 (GRCm39) |
E193G |
probably damaging |
Het |
| Dusp2 |
A |
T |
2: 127,179,208 (GRCm39) |
S188C |
probably damaging |
Het |
| Ep400 |
T |
C |
5: 110,877,697 (GRCm39) |
I810V |
unknown |
Het |
| Faim2 |
C |
T |
15: 99,419,132 (GRCm39) |
G79D |
probably benign |
Het |
| Fpgt |
A |
T |
3: 154,793,040 (GRCm39) |
I329K |
probably damaging |
Het |
| Fut8 |
A |
G |
12: 77,411,771 (GRCm39) |
T78A |
probably benign |
Het |
| Gm15130 |
A |
G |
2: 110,965,714 (GRCm39) |
|
probably benign |
Het |
| Gm17087 |
A |
C |
17: 8,785,529 (GRCm39) |
I58R |
probably benign |
Het |
| Grk2 |
T |
C |
19: 4,337,925 (GRCm39) |
D485G |
possibly damaging |
Het |
| Hax1 |
GTCATCATCATCATCATC |
GTCATCATCATCATCATCATC |
3: 89,905,247 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,439,568 (GRCm39) |
S5539P |
probably damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,310,335 (GRCm39) |
V3310M |
probably damaging |
Het |
| Impdh1 |
A |
T |
6: 29,207,161 (GRCm39) |
L61Q |
probably damaging |
Het |
| Inhbb |
A |
T |
1: 119,345,806 (GRCm39) |
V161D |
possibly damaging |
Het |
| Kansl2 |
C |
T |
15: 98,427,306 (GRCm39) |
V192M |
probably damaging |
Het |
| Krt1c |
T |
C |
15: 101,724,747 (GRCm39) |
K288E |
probably damaging |
Het |
| Lyar |
A |
G |
5: 38,385,290 (GRCm39) |
K110R |
probably damaging |
Het |
| Lyrm9 |
C |
A |
11: 78,726,961 (GRCm39) |
H35N |
probably damaging |
Het |
| Mab21l1 |
A |
G |
3: 55,690,533 (GRCm39) |
D40G |
probably benign |
Het |
| Maml2 |
A |
C |
9: 13,532,915 (GRCm39) |
|
probably benign |
Het |
| Mbd5 |
A |
G |
2: 49,162,401 (GRCm39) |
H69R |
probably benign |
Het |
| Morc2b |
G |
T |
17: 33,356,446 (GRCm39) |
A442E |
probably damaging |
Het |
| Moxd2 |
A |
T |
6: 40,855,744 (GRCm39) |
L615Q |
probably damaging |
Het |
| Msh2 |
G |
A |
17: 88,016,011 (GRCm39) |
G548S |
probably damaging |
Het |
| Napg |
G |
A |
18: 63,128,054 (GRCm39) |
S279N |
possibly damaging |
Het |
| Ncor1 |
A |
T |
11: 62,240,136 (GRCm39) |
|
probably null |
Het |
| Nkiras2 |
G |
T |
11: 100,516,866 (GRCm39) |
R128L |
probably damaging |
Het |
| Npy4r |
T |
C |
14: 33,868,664 (GRCm39) |
D208G |
probably benign |
Het |
| Or10ak11 |
C |
T |
4: 118,687,413 (GRCm39) |
V75I |
probably benign |
Het |
| Or52e2 |
A |
G |
7: 102,804,081 (GRCm39) |
V291A |
possibly damaging |
Het |
| Or8b42 |
G |
T |
9: 38,341,627 (GRCm39) |
L16F |
probably damaging |
Het |
| Pcdhgb2 |
A |
G |
18: 37,823,560 (GRCm39) |
T184A |
probably benign |
Het |
| Plxna4 |
T |
C |
6: 32,228,000 (GRCm39) |
|
probably null |
Het |
| Pnldc1 |
C |
T |
17: 13,113,260 (GRCm39) |
E328K |
probably benign |
Het |
| Pon1 |
T |
A |
6: 5,185,334 (GRCm39) |
L55F |
probably damaging |
Het |
| Pramel51 |
T |
C |
12: 88,142,683 (GRCm39) |
I312V |
probably benign |
Het |
| Prkci |
G |
T |
3: 31,092,605 (GRCm39) |
D296Y |
probably damaging |
Het |
| Prkd1 |
T |
C |
12: 50,435,038 (GRCm39) |
H563R |
probably damaging |
Het |
| Ptpru |
T |
C |
4: 131,546,236 (GRCm39) |
N266S |
probably benign |
Het |
| Rapgef6 |
A |
T |
11: 54,530,609 (GRCm39) |
I589F |
probably damaging |
Het |
| Rcan3 |
A |
T |
4: 135,145,853 (GRCm39) |
S127T |
probably benign |
Het |
| Sh3tc2 |
A |
G |
18: 62,110,975 (GRCm39) |
D277G |
probably benign |
Het |
| Sipa1l3 |
G |
A |
7: 29,098,949 (GRCm39) |
A440V |
probably benign |
Het |
| Slc13a2 |
A |
C |
11: 78,291,358 (GRCm39) |
I372S |
probably damaging |
Het |
| Slco1a7 |
T |
A |
6: 141,700,182 (GRCm39) |
T117S |
probably benign |
Het |
| Spns1 |
A |
T |
7: 125,969,495 (GRCm39) |
I528N |
probably damaging |
Het |
| Sult6b2 |
T |
C |
6: 142,736,021 (GRCm39) |
K191R |
probably benign |
Het |
| Swt1 |
A |
G |
1: 151,278,700 (GRCm39) |
|
probably null |
Het |
| Tcn2 |
A |
T |
11: 3,877,546 (GRCm39) |
L34* |
probably null |
Het |
| Trpc4 |
A |
G |
3: 54,223,263 (GRCm39) |
E733G |
probably damaging |
Het |
| Uap1l1 |
A |
T |
2: 25,254,642 (GRCm39) |
H184Q |
possibly damaging |
Het |
| Vil1 |
T |
G |
1: 74,455,192 (GRCm39) |
V48G |
possibly damaging |
Het |
| Vps39 |
A |
T |
2: 120,159,186 (GRCm39) |
H367Q |
probably damaging |
Het |
| Wars2 |
A |
G |
3: 99,094,962 (GRCm39) |
T86A |
probably benign |
Het |
| Wdr90 |
A |
G |
17: 26,064,107 (GRCm39) |
S1872P |
probably damaging |
Het |
| Wdr90 |
A |
G |
17: 26,065,381 (GRCm39) |
L1625P |
probably damaging |
Het |
| Xaf1 |
A |
T |
11: 72,194,256 (GRCm39) |
M46L |
probably damaging |
Het |
| Zfp1005 |
A |
G |
2: 150,109,855 (GRCm39) |
T182A |
unknown |
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 |
|
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'- CAGGGCTCTTGTTCCTTGAG -3'
(R):5'- CCTATGGTCATTCTCAGAAGAAGC -3'
Sequencing Primer
(F):5'- GAGCTCAGCCACATTCTCTG -3'
(R):5'- GGTCATTCTCAGAAGAAGCATAAATG -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation