Incidental Mutation 'R6119:Tmem131l'
| ID |
485644 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem131l
|
| Ensembl Gene |
ENSMUSG00000033767 |
| Gene Name |
transmembrane 131 like |
| Synonyms |
D930015E06Rik |
| MMRRC Submission |
044429-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.138)
|
| Stock # |
R6119 (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 83805689 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 1585
(F1585I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141438
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052342]
[ENSMUST00000191758]
[ENSMUST00000192095]
|
| AlphaFold |
Q3U3D7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052342
AA Change: F1523I
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000049808
Gene: ENSMUSG00000033767
AA Change: F1523I
| 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: F1585I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000141438
Gene: ENSMUSG00000033767
AA Change: F1585I
| 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: F1522I
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000141607
Gene: ENSMUSG00000033767
AA Change: F1522I
| 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: ENSMUST00000194993
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195245
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199411
|
| Meta Mutation Damage Score |
0.1212 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.2%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
C |
T |
7: 27,265,138 (GRCm39) |
R97* |
probably null |
Het |
| 4930544D05Rik |
G |
A |
11: 70,507,317 (GRCm39) |
A121T |
probably damaging |
Het |
| Abtb2 |
A |
T |
2: 103,532,655 (GRCm39) |
E484D |
probably benign |
Het |
| Ankk1 |
A |
T |
9: 49,338,183 (GRCm39) |
W37R |
possibly damaging |
Het |
| Arhgap11a |
C |
A |
2: 113,664,695 (GRCm39) |
M529I |
probably benign |
Het |
| Btd |
G |
A |
14: 31,363,065 (GRCm39) |
|
probably benign |
Het |
| Ddx47 |
T |
C |
6: 135,000,318 (GRCm39) |
I438T |
probably benign |
Het |
| Dnhd1 |
A |
G |
7: 105,358,647 (GRCm39) |
T3379A |
probably benign |
Het |
| Dusp3 |
A |
G |
11: 101,871,495 (GRCm39) |
|
probably benign |
Het |
| Dync1h1 |
A |
G |
12: 110,594,440 (GRCm39) |
K1289E |
possibly damaging |
Het |
| Egf |
A |
T |
3: 129,530,421 (GRCm39) |
I247N |
probably benign |
Het |
| Erich1 |
A |
G |
8: 14,083,692 (GRCm39) |
L126P |
probably benign |
Het |
| Fat3 |
T |
A |
9: 16,287,864 (GRCm39) |
H553L |
possibly damaging |
Het |
| Gdpgp1 |
T |
C |
7: 79,888,740 (GRCm39) |
L257P |
probably damaging |
Het |
| Gimap8 |
T |
C |
6: 48,635,888 (GRCm39) |
I551T |
possibly damaging |
Het |
| Gnptab |
C |
A |
10: 88,267,257 (GRCm39) |
D449E |
probably damaging |
Het |
| Grb10 |
T |
C |
11: 11,883,551 (GRCm39) |
D513G |
probably damaging |
Het |
| Grin1 |
T |
G |
2: 25,195,170 (GRCm39) |
D283A |
probably damaging |
Het |
| Gtf2i |
A |
T |
5: 134,315,911 (GRCm39) |
|
probably null |
Het |
| Ip6k3 |
A |
G |
17: 27,367,599 (GRCm39) |
V199A |
possibly damaging |
Het |
| Kif17 |
T |
A |
4: 138,015,643 (GRCm39) |
Y405* |
probably null |
Het |
| Lair1 |
T |
C |
7: 4,031,895 (GRCm39) |
M71V |
probably benign |
Het |
| Mamdc2 |
G |
A |
19: 23,330,679 (GRCm39) |
T376M |
probably damaging |
Het |
| Msra |
G |
A |
14: 64,678,183 (GRCm39) |
R38C |
probably damaging |
Het |
| Mthfd1 |
A |
T |
12: 76,350,447 (GRCm39) |
I462F |
probably damaging |
Het |
| Nbr1 |
A |
G |
11: 101,457,938 (GRCm39) |
|
probably null |
Het |
| Neb |
A |
G |
2: 52,110,943 (GRCm39) |
M181T |
probably benign |
Het |
| Noxo1 |
A |
G |
17: 24,915,545 (GRCm39) |
|
probably benign |
Het |
| Optn |
C |
A |
2: 5,026,134 (GRCm39) |
|
probably null |
Het |
| Or10ag58 |
A |
T |
2: 87,265,733 (GRCm39) |
K301* |
probably null |
Het |
| Or4c103 |
A |
G |
2: 88,513,935 (GRCm39) |
I47T |
probably damaging |
Het |
| Or5k17 |
A |
T |
16: 58,746,895 (GRCm39) |
I13N |
possibly damaging |
Het |
| Or6c215 |
G |
A |
10: 129,637,689 (GRCm39) |
A235V |
probably damaging |
Het |
| Or6c215 |
C |
A |
10: 129,637,690 (GRCm39) |
A235S |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,727,033 (GRCm39) |
|
probably benign |
Het |
| Ppp1r16b |
A |
G |
2: 158,593,047 (GRCm39) |
I209V |
probably benign |
Het |
| Prss12 |
A |
G |
3: 123,283,258 (GRCm39) |
I517V |
possibly damaging |
Het |
| Pwwp3a |
A |
G |
10: 80,064,865 (GRCm39) |
K32E |
probably benign |
Het |
| Ripor2 |
C |
T |
13: 24,798,627 (GRCm39) |
|
probably benign |
Het |
| Rmnd5b |
A |
G |
11: 51,516,536 (GRCm39) |
S274P |
probably benign |
Het |
| Sftpa1 |
T |
A |
14: 40,854,509 (GRCm39) |
I32N |
probably damaging |
Het |
| Slc2a12 |
T |
A |
10: 22,541,246 (GRCm39) |
I367N |
probably damaging |
Het |
| Sorcs1 |
T |
C |
19: 50,276,532 (GRCm39) |
D340G |
probably damaging |
Het |
| Synj1 |
T |
C |
16: 90,735,877 (GRCm39) |
K1359E |
probably benign |
Het |
| Tasor2 |
C |
T |
13: 3,631,891 (GRCm39) |
R870H |
possibly damaging |
Het |
| Tcf12 |
T |
A |
9: 71,775,547 (GRCm39) |
E421V |
probably damaging |
Het |
| Tecta |
A |
T |
9: 42,284,371 (GRCm39) |
F905I |
probably benign |
Het |
| Tmem106a |
T |
A |
11: 101,474,576 (GRCm39) |
C58* |
probably null |
Het |
| Tnks2 |
T |
C |
19: 36,856,752 (GRCm39) |
S208P |
possibly damaging |
Het |
| Trim50 |
A |
G |
5: 135,382,274 (GRCm39) |
N42S |
probably benign |
Het |
| Tsc22d2 |
T |
A |
3: 58,367,674 (GRCm39) |
|
probably benign |
Het |
| Ttll3 |
T |
A |
6: 113,371,702 (GRCm39) |
L23H |
probably damaging |
Het |
| Vmn1r10 |
A |
G |
6: 57,091,218 (GRCm39) |
Y270C |
probably benign |
Het |
| Ypel3 |
T |
C |
7: 126,377,537 (GRCm39) |
V74A |
possibly damaging |
Het |
| Zfp677 |
A |
G |
17: 21,618,070 (GRCm39) |
T376A |
possibly 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 |
|
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 |
|
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'- ATGACCTGGGATGCCAAGTC -3'
(R):5'- GCCCCACAAAGTGAAGTGTATG -3'
Sequencing Primer
(F):5'- CTGGGATGCCAAGTCTGTAAAACTC -3'
(R):5'- AGTGTATGAAACCTGCTGCC -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation