Incidental Mutation 'R5101:Tmem131l'
| ID |
392345 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem131l
|
| Ensembl Gene |
ENSMUSG00000033767 |
| Gene Name |
transmembrane 131 like |
| Synonyms |
D930015E06Rik |
| MMRRC Submission |
042852-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.122)
|
| Stock # |
R5101 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
83804962-83947482 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 83844811 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 466
(N466S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141607
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052342]
[ENSMUST00000191758]
[ENSMUST00000192095]
|
| AlphaFold |
Q3U3D7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052342
AA Change: N466S
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000049808
Gene: ENSMUSG00000033767
AA Change: N466S
| 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: N466S
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000141438
Gene: ENSMUSG00000033767
AA Change: N466S
| 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: N466S
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000141607
Gene: ENSMUSG00000033767
AA Change: N466S
| 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
|
| Meta Mutation Damage Score |
0.2223 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.0%
|
| Validation Efficiency |
100% (57/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam17 |
T |
C |
12: 21,423,406 (GRCm39) |
T10A |
possibly damaging |
Het |
| Adgrg3 |
T |
C |
8: 95,763,563 (GRCm39) |
F288S |
probably benign |
Het |
| Ago2 |
A |
G |
15: 72,991,339 (GRCm39) |
V533A |
probably damaging |
Het |
| Akap9 |
T |
G |
5: 4,051,748 (GRCm39) |
V1505G |
probably damaging |
Het |
| Apob |
T |
C |
12: 8,061,934 (GRCm39) |
I3439T |
probably benign |
Het |
| C1qtnf7 |
T |
A |
5: 43,773,314 (GRCm39) |
Y204* |
probably null |
Het |
| Cdc42bpb |
T |
C |
12: 111,265,549 (GRCm39) |
E1461G |
probably damaging |
Het |
| Cdh3 |
C |
T |
8: 107,268,024 (GRCm39) |
A353V |
possibly damaging |
Het |
| Clec4d |
A |
G |
6: 123,244,071 (GRCm39) |
Y60C |
probably damaging |
Het |
| Cmya5 |
T |
A |
13: 93,228,111 (GRCm39) |
T2326S |
possibly damaging |
Het |
| Cnot1 |
G |
A |
8: 96,486,815 (GRCm39) |
L631F |
possibly damaging |
Het |
| Cntnap5a |
C |
T |
1: 116,370,026 (GRCm39) |
T881I |
probably benign |
Het |
| Col6a1 |
T |
A |
10: 76,545,740 (GRCm39) |
T911S |
unknown |
Het |
| Ctsw |
A |
G |
19: 5,515,703 (GRCm39) |
V287A |
probably benign |
Het |
| Cyp2c23 |
T |
C |
19: 44,017,622 (GRCm39) |
E2G |
unknown |
Het |
| Cytip |
A |
T |
2: 58,037,911 (GRCm39) |
I151N |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,909,577 (GRCm39) |
T4399A |
possibly damaging |
Het |
| Dock3 |
A |
T |
9: 106,846,980 (GRCm39) |
I883N |
probably damaging |
Het |
| Entpd3 |
A |
G |
9: 120,395,608 (GRCm39) |
*530W |
probably null |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Gp1ba |
G |
A |
11: 70,532,225 (GRCm39) |
V664M |
probably benign |
Het |
| Gpd2 |
T |
A |
2: 57,245,913 (GRCm39) |
I481N |
probably damaging |
Het |
| Gvin-ps5 |
T |
C |
7: 105,929,096 (GRCm39) |
|
noncoding transcript |
Het |
| Ildr2 |
A |
G |
1: 166,135,331 (GRCm39) |
D342G |
probably damaging |
Het |
| Krt87 |
A |
G |
15: 101,385,391 (GRCm39) |
I327T |
probably benign |
Het |
| Lats1 |
T |
A |
10: 7,588,348 (GRCm39) |
C988* |
probably null |
Het |
| Lpin2 |
G |
A |
17: 71,550,965 (GRCm39) |
W708* |
probably null |
Het |
| Mast4 |
T |
C |
13: 102,872,864 (GRCm39) |
D2168G |
probably benign |
Het |
| Myo6 |
G |
T |
9: 80,177,321 (GRCm39) |
E606* |
probably null |
Het |
| Nek7 |
A |
G |
1: 138,443,431 (GRCm39) |
V174A |
probably benign |
Het |
| Nid1 |
T |
A |
13: 13,658,339 (GRCm39) |
C695S |
probably damaging |
Het |
| Nme8 |
A |
G |
13: 19,875,017 (GRCm39) |
|
probably null |
Het |
| Nr2c2 |
T |
C |
6: 92,131,497 (GRCm39) |
|
probably null |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or2ag18 |
A |
T |
7: 106,405,420 (GRCm39) |
I83K |
possibly damaging |
Het |
| Or4x11 |
A |
G |
2: 89,867,391 (GRCm39) |
M43V |
probably benign |
Het |
| Or51ab3 |
G |
A |
7: 103,201,150 (GRCm39) |
E53K |
probably damaging |
Het |
| Or9g19 |
A |
G |
2: 85,600,268 (GRCm39) |
N41S |
probably damaging |
Het |
| Pms2 |
A |
G |
5: 143,865,006 (GRCm39) |
D696G |
probably damaging |
Het |
| Psapl1 |
T |
A |
5: 36,361,494 (GRCm39) |
C29S |
probably damaging |
Het |
| Scn3a |
A |
T |
2: 65,291,850 (GRCm39) |
V1632D |
probably damaging |
Het |
| Slc22a1 |
C |
T |
17: 12,886,129 (GRCm39) |
G168D |
probably damaging |
Het |
| Smad4 |
A |
G |
18: 73,808,931 (GRCm39) |
V112A |
probably benign |
Het |
| Smc4 |
T |
C |
3: 68,935,845 (GRCm39) |
V796A |
probably benign |
Het |
| Smco4 |
A |
G |
9: 15,455,968 (GRCm39) |
E18G |
unknown |
Het |
| Spata31e2 |
T |
C |
1: 26,722,417 (GRCm39) |
E921G |
possibly damaging |
Het |
| Sugp2 |
A |
G |
8: 70,713,139 (GRCm39) |
E1035G |
probably damaging |
Het |
| Syde2 |
T |
C |
3: 145,721,393 (GRCm39) |
S820P |
probably damaging |
Het |
| Syn2 |
T |
C |
6: 115,240,860 (GRCm39) |
L410P |
probably damaging |
Het |
| Uba1y |
T |
G |
Y: 821,447 (GRCm39) |
|
probably null |
Het |
| Unc79 |
T |
C |
12: 103,078,769 (GRCm39) |
S1645P |
probably damaging |
Het |
| Vmn2r17 |
A |
T |
5: 109,576,217 (GRCm39) |
S363C |
probably damaging |
Het |
| Vmn2r78 |
T |
C |
7: 86,571,563 (GRCm39) |
Y458H |
probably damaging |
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 |
|
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'- CACGTAAGACTGGCTTGGTAG -3'
(R):5'- CTTTCTTCTCTCAGAATAAGCAGTG -3'
Sequencing Primer
(F):5'- AAGACTGGCTTGGTAGTATCTTAC -3'
(R):5'- AGATATGTGGCTTGACAAAAGTAC -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation