Incidental Mutation 'R0106:Tmem131l'
| ID |
17730 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem131l
|
| Ensembl Gene |
ENSMUSG00000033767 |
| Gene Name |
transmembrane 131 like |
| Synonyms |
D930015E06Rik |
| MMRRC Submission |
038392-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.138)
|
| Stock # |
R0106 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
83804962-83947482 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 83842122 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141607
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052342]
[ENSMUST00000191758]
[ENSMUST00000192095]
|
| AlphaFold |
Q3U3D7 |
| Predicted Effect |
probably benign
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 benign
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 benign
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
|
| Coding Region Coverage |
- 1x: 87.6%
- 3x: 83.1%
- 10x: 68.0%
- 20x: 43.0%
|
| Validation Efficiency |
97% (89/92) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933415A04Rik |
A |
T |
11: 43,478,200 (GRCm39) |
|
probably benign |
Het |
| A730018C14Rik |
A |
T |
12: 112,381,628 (GRCm39) |
|
noncoding transcript |
Het |
| Abca5 |
A |
T |
11: 110,210,651 (GRCm39) |
L176Q |
probably damaging |
Het |
| Aspm |
C |
A |
1: 139,404,614 (GRCm39) |
Q1315K |
probably benign |
Het |
| Bpifb4 |
A |
G |
2: 153,782,888 (GRCm39) |
D31G |
probably benign |
Het |
| Brf1 |
A |
G |
12: 112,937,083 (GRCm39) |
|
probably benign |
Het |
| Card19 |
A |
C |
13: 49,361,621 (GRCm39) |
D3E |
probably benign |
Het |
| Chd6 |
A |
G |
2: 160,809,822 (GRCm39) |
F1480L |
probably damaging |
Het |
| Cldn25 |
A |
G |
9: 48,958,933 (GRCm39) |
|
noncoding transcript |
Het |
| Col11a2 |
A |
G |
17: 34,276,249 (GRCm39) |
N799D |
probably damaging |
Het |
| Cpb1 |
T |
C |
3: 20,320,697 (GRCm39) |
|
probably null |
Het |
| Cyp2g1 |
T |
A |
7: 26,513,607 (GRCm39) |
I182N |
probably damaging |
Het |
| Dntt |
A |
T |
19: 41,044,185 (GRCm39) |
|
probably benign |
Het |
| Dscc1 |
C |
A |
15: 54,946,966 (GRCm39) |
C253F |
probably benign |
Het |
| Dysf |
C |
A |
6: 84,090,318 (GRCm39) |
F956L |
probably benign |
Het |
| Ephb6 |
T |
C |
6: 41,596,528 (GRCm39) |
|
probably benign |
Het |
| Firrm |
T |
C |
1: 163,810,380 (GRCm39) |
|
probably benign |
Het |
| Fkbp6 |
C |
T |
5: 135,368,858 (GRCm39) |
R234Q |
probably benign |
Het |
| Gda |
T |
C |
19: 21,374,920 (GRCm39) |
D332G |
probably benign |
Het |
| Ggt7 |
C |
T |
2: 155,336,813 (GRCm39) |
A560T |
possibly damaging |
Het |
| Glis3 |
A |
T |
19: 28,509,268 (GRCm39) |
S239T |
possibly damaging |
Het |
| Glyctk |
G |
A |
9: 106,033,168 (GRCm39) |
P124L |
probably benign |
Het |
| Gm10845 |
T |
A |
14: 80,100,644 (GRCm39) |
|
noncoding transcript |
Het |
| H13 |
A |
G |
2: 152,528,176 (GRCm39) |
K175R |
probably benign |
Het |
| Igsf6 |
T |
A |
7: 120,673,677 (GRCm39) |
I18F |
probably benign |
Het |
| Immt |
A |
G |
6: 71,828,828 (GRCm39) |
S128G |
probably benign |
Het |
| Isy1 |
G |
A |
6: 87,796,167 (GRCm39) |
R257W |
probably damaging |
Het |
| Kif13a |
G |
T |
13: 46,978,823 (GRCm39) |
|
probably benign |
Het |
| L2hgdh |
A |
T |
12: 69,752,563 (GRCm39) |
Y239* |
probably null |
Het |
| Lamp1 |
A |
G |
8: 13,224,550 (GRCm39) |
T405A |
probably damaging |
Het |
| Lpin1 |
A |
T |
12: 16,590,980 (GRCm39) |
N817K |
possibly damaging |
Het |
| Macf1 |
G |
A |
4: 123,302,357 (GRCm39) |
T715I |
probably benign |
Het |
| Mapk12 |
T |
C |
15: 89,017,187 (GRCm39) |
|
probably benign |
Het |
| Mdga2 |
A |
T |
12: 66,763,480 (GRCm39) |
N205K |
probably damaging |
Het |
| Nat10 |
A |
G |
2: 103,587,550 (GRCm39) |
V55A |
probably damaging |
Het |
| Nlrp10 |
T |
C |
7: 108,524,529 (GRCm39) |
E317G |
possibly damaging |
Het |
| Nolc1 |
T |
A |
19: 46,068,528 (GRCm39) |
|
probably benign |
Het |
| Nomo1 |
T |
C |
7: 45,687,056 (GRCm39) |
I72T |
probably damaging |
Het |
| Or5b98 |
A |
G |
19: 12,931,720 (GRCm39) |
I256V |
probably benign |
Het |
| Pappa2 |
C |
T |
1: 158,542,547 (GRCm39) |
C1780Y |
probably damaging |
Het |
| Pgm2l1 |
A |
G |
7: 99,899,580 (GRCm39) |
M65V |
probably benign |
Het |
| Pnisr |
T |
C |
4: 21,874,617 (GRCm39) |
|
probably benign |
Het |
| Prss34 |
A |
T |
17: 25,517,700 (GRCm39) |
D25V |
probably damaging |
Het |
| Ptpn1 |
T |
C |
2: 167,818,338 (GRCm39) |
|
probably benign |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Pygb |
A |
G |
2: 150,648,123 (GRCm39) |
D119G |
probably benign |
Het |
| Racgap1 |
T |
C |
15: 99,540,839 (GRCm39) |
T4A |
possibly damaging |
Het |
| Rap1gap2 |
A |
G |
11: 74,326,570 (GRCm39) |
C166R |
probably benign |
Het |
| Rbm28 |
C |
A |
6: 29,127,802 (GRCm39) |
V705L |
probably benign |
Het |
| Rgs1 |
C |
T |
1: 144,124,287 (GRCm39) |
V50M |
probably benign |
Het |
| Rgs12 |
C |
T |
5: 35,124,008 (GRCm39) |
T597I |
probably benign |
Het |
| Ros1 |
T |
C |
10: 52,018,363 (GRCm39) |
N765S |
possibly damaging |
Het |
| Ruvbl1 |
A |
G |
6: 88,450,182 (GRCm39) |
R58G |
probably damaging |
Het |
| Slc6a7 |
A |
G |
18: 61,135,295 (GRCm39) |
V411A |
probably benign |
Het |
| Slco1a6 |
A |
T |
6: 142,103,116 (GRCm39) |
|
probably benign |
Het |
| Smc1b |
A |
T |
15: 84,955,020 (GRCm39) |
D1077E |
probably damaging |
Het |
| Srek1 |
G |
A |
13: 103,880,131 (GRCm39) |
H476Y |
unknown |
Het |
| Strn3 |
A |
G |
12: 51,668,571 (GRCm39) |
V673A |
probably benign |
Het |
| Tepsin |
T |
C |
11: 119,982,637 (GRCm39) |
|
probably null |
Het |
| Tmem132c |
T |
C |
5: 127,631,733 (GRCm39) |
V664A |
possibly damaging |
Het |
| Tmprss15 |
T |
C |
16: 78,800,277 (GRCm39) |
D602G |
probably damaging |
Het |
| Trbv15 |
T |
C |
6: 41,118,199 (GRCm39) |
|
probably benign |
Het |
| Trpm4 |
A |
G |
7: 44,968,664 (GRCm39) |
|
probably null |
Het |
| Wdr70 |
A |
T |
15: 8,049,068 (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 |
|
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 |
|
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 |
2013-01-31 |
Incidental Mutation