Incidental Mutation 'R9068:Tmem131l'
| ID |
689351 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem131l
|
| Ensembl Gene |
ENSMUSG00000033767 |
| Gene Name |
transmembrane 131 like |
| Synonyms |
D930015E06Rik |
| MMRRC Submission |
068892-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.138)
|
| Stock # |
R9068 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
83804962-83947482 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 83817775 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 1242
(C1242S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141438
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052342]
[ENSMUST00000191758]
[ENSMUST00000192095]
|
| AlphaFold |
Q3U3D7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052342
AA Change: C1241S
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000049808
Gene: ENSMUSG00000033767
AA Change: C1241S
| 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
AA Change: C1242S
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000141438
Gene: ENSMUSG00000033767
AA Change: C1242S
| 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
AA Change: C1241S
PolyPhen 2
Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000141607
Gene: ENSMUSG00000033767
AA Change: C1241S
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
97% (57/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
T |
C |
6: 23,075,828 (GRCm39) |
I770V |
probably benign |
Het |
| Abtb3 |
C |
A |
10: 85,223,762 (GRCm39) |
N190K |
unknown |
Het |
| Actr10 |
T |
C |
12: 70,989,073 (GRCm39) |
L64S |
probably damaging |
Het |
| Adam22 |
T |
C |
5: 8,177,343 (GRCm39) |
T589A |
probably benign |
Het |
| Akr1b7 |
T |
C |
6: 34,395,977 (GRCm39) |
S160P |
probably damaging |
Het |
| Ankrd52 |
C |
T |
10: 128,217,850 (GRCm39) |
H277Y |
probably damaging |
Het |
| Cc2d1b |
T |
A |
4: 108,482,062 (GRCm39) |
L112Q |
probably damaging |
Het |
| Cd200r3 |
T |
A |
16: 44,773,750 (GRCm39) |
|
probably benign |
Het |
| Clec3a |
A |
G |
8: 115,152,375 (GRCm39) |
D127G |
probably damaging |
Het |
| Cnnm3 |
T |
C |
1: 36,551,962 (GRCm39) |
L324P |
probably damaging |
Het |
| Cspp1 |
T |
C |
1: 10,147,469 (GRCm39) |
|
probably null |
Het |
| Cwf19l1 |
C |
T |
19: 44,124,274 (GRCm39) |
|
probably benign |
Het |
| Cyp26b1 |
G |
A |
6: 84,551,379 (GRCm39) |
T470I |
probably damaging |
Het |
| Dedd2 |
A |
G |
7: 24,917,092 (GRCm39) |
V110A |
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,975,729 (GRCm39) |
I2866M |
possibly damaging |
Het |
| Dpp10 |
T |
C |
1: 123,360,667 (GRCm39) |
Y286C |
probably damaging |
Het |
| Efna2 |
C |
T |
10: 80,024,524 (GRCm39) |
P177L |
probably damaging |
Het |
| Fbxo46 |
A |
G |
7: 18,869,325 (GRCm39) |
|
probably benign |
Het |
| Gdpd5 |
A |
T |
7: 99,108,048 (GRCm39) |
T542S |
probably benign |
Het |
| Gm136 |
T |
G |
4: 34,750,928 (GRCm39) |
D115A |
possibly damaging |
Het |
| Gm7356 |
T |
A |
17: 14,221,687 (GRCm39) |
K114I |
possibly damaging |
Het |
| Gpr180 |
G |
T |
14: 118,385,658 (GRCm39) |
E157* |
probably null |
Het |
| Grk4 |
T |
C |
5: 34,905,653 (GRCm39) |
I466T |
|
Het |
| Hic1 |
A |
G |
11: 75,060,332 (GRCm39) |
M5T |
unknown |
Het |
| Hmcn2 |
C |
A |
2: 31,303,685 (GRCm39) |
N3058K |
probably benign |
Het |
| Htr5a |
T |
A |
5: 28,055,799 (GRCm39) |
H263Q |
probably benign |
Het |
| Lrrc7 |
T |
C |
3: 157,946,138 (GRCm39) |
K187R |
probably benign |
Het |
| Map3k8 |
A |
T |
18: 4,340,557 (GRCm39) |
H252Q |
probably benign |
Het |
| Muc4 |
CAC |
CACTAC |
16: 32,575,367 (GRCm39) |
|
probably benign |
Het |
| Naa16 |
A |
T |
14: 79,612,289 (GRCm39) |
M233K |
probably benign |
Het |
| Napsa |
A |
T |
7: 44,235,223 (GRCm39) |
D336V |
probably damaging |
Het |
| Neurod1 |
T |
A |
2: 79,285,218 (GRCm39) |
N55I |
possibly damaging |
Het |
| Or10d5 |
A |
T |
9: 39,862,087 (GRCm39) |
|
probably benign |
Het |
| Or4c115 |
A |
T |
2: 88,927,369 (GRCm39) |
C301S |
probably benign |
Het |
| Or5an9 |
T |
C |
19: 12,187,703 (GRCm39) |
F258L |
probably damaging |
Het |
| Or8b12 |
T |
A |
9: 37,657,963 (GRCm39) |
C178S |
probably damaging |
Het |
| Pcdha8 |
G |
T |
18: 37,127,323 (GRCm39) |
G602C |
probably damaging |
Het |
| Peg10 |
T |
TCCG |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Pigr |
G |
A |
1: 130,774,231 (GRCm39) |
V404M |
probably damaging |
Het |
| Plch1 |
G |
A |
3: 63,612,036 (GRCm39) |
P803L |
probably damaging |
Het |
| Ppp4r3b |
T |
A |
11: 29,159,396 (GRCm39) |
F583L |
probably benign |
Het |
| Rit2 |
A |
T |
18: 31,108,468 (GRCm39) |
D172E |
possibly damaging |
Het |
| Skint4 |
C |
T |
4: 112,022,932 (GRCm39) |
P476S |
possibly damaging |
Het |
| Slco2b1 |
A |
G |
7: 99,320,171 (GRCm39) |
V353A |
probably benign |
Het |
| Slit3 |
A |
G |
11: 35,574,917 (GRCm39) |
D1077G |
probably damaging |
Het |
| Sun2 |
A |
G |
15: 79,612,252 (GRCm39) |
F478L |
probably benign |
Het |
| Syt6 |
C |
A |
3: 103,494,825 (GRCm39) |
C263* |
probably null |
Het |
| Tfpi |
C |
A |
2: 84,273,235 (GRCm39) |
L229F |
unknown |
Het |
| Ttc3 |
T |
A |
16: 94,204,219 (GRCm39) |
W280R |
probably damaging |
Het |
| Uncx |
A |
G |
5: 139,532,573 (GRCm39) |
K213E |
possibly damaging |
Het |
| Usp24 |
T |
C |
4: 106,232,875 (GRCm39) |
L887P |
probably benign |
Het |
| Vmn1r178 |
A |
T |
7: 23,593,404 (GRCm39) |
I151F |
probably damaging |
Het |
| Vmn2r50 |
G |
T |
7: 9,772,061 (GRCm39) |
Q547K |
possibly damaging |
Het |
| Vwf |
A |
G |
6: 125,625,792 (GRCm39) |
|
probably benign |
Het |
| Wdfy3 |
A |
T |
5: 102,000,451 (GRCm39) |
V2973D |
probably benign |
Het |
| Zbtb49 |
T |
C |
5: 38,358,289 (GRCm39) |
M655V |
probably benign |
Het |
| Zc3h3 |
C |
T |
15: 75,711,499 (GRCm39) |
A321T |
probably benign |
Het |
| Zeb2 |
T |
A |
2: 45,000,040 (GRCm39) |
R65W |
possibly damaging |
Het |
| Zfp541 |
A |
G |
7: 15,812,376 (GRCm39) |
E343G |
probably damaging |
Het |
| Zfp775 |
C |
A |
6: 48,597,151 (GRCm39) |
R342S |
probably damaging |
Het |
| Zwilch |
A |
G |
9: 64,075,942 (GRCm39) |
F27L |
probably benign |
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 |
|
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 |
|
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'- GGGCATGTGCTTTCTGATCTAAC -3'
(R):5'- CATCTTTTAGGGACTTGGGGCC -3'
Sequencing Primer
(F):5'- TGGAGTTGCCAACAGCTAC -3'
(R):5'- GACTTGGGGCCTTTCTTGCTC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation