Incidental Mutation 'R0035:Gm5134'
| ID |
15299 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm5134
|
| Ensembl Gene |
ENSMUSG00000033255 |
| Gene Name |
predicted gene 5134 |
| Synonyms |
|
| MMRRC Submission |
038329-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.113)
|
| Stock # |
R0035 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
75790348-75845425 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 75829698 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 328
(F328Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097172
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099577]
|
| AlphaFold |
E9QAB5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099577
AA Change: F328Y
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000097172
Gene: ENSMUSG00000033255
AA Change: F328Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SSF
|
32 |
466 |
2.9e-119 |
PFAM |
|
transmembrane domain
|
500 |
522 |
N/A |
INTRINSIC |
|
transmembrane domain
|
651 |
670 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131874
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134234
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 75.6%
- 3x: 61.5%
- 10x: 31.6%
- 20x: 15.2%
|
| Validation Efficiency |
94% (51/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110040N11Rik |
T |
C |
7: 81,438,297 (GRCm39) |
T20A |
probably benign |
Het |
| Acvr1c |
A |
G |
2: 58,205,791 (GRCm39) |
|
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,393,581 (GRCm39) |
V1247A |
probably benign |
Het |
| Ap4b1 |
T |
C |
3: 103,727,980 (GRCm39) |
|
probably benign |
Het |
| Cfap53 |
A |
G |
18: 74,433,278 (GRCm39) |
E121G |
probably damaging |
Het |
| Clec4a3 |
T |
A |
6: 122,944,508 (GRCm39) |
Y185N |
probably damaging |
Het |
| Clic5 |
A |
G |
17: 44,586,200 (GRCm39) |
T230A |
probably damaging |
Het |
| Clspn |
G |
T |
4: 126,458,796 (GRCm39) |
|
probably null |
Het |
| Deup1 |
T |
C |
9: 15,511,117 (GRCm39) |
R221G |
possibly damaging |
Het |
| Dnah8 |
A |
T |
17: 30,902,595 (GRCm39) |
|
probably benign |
Het |
| Dnase1l2 |
A |
G |
17: 24,660,049 (GRCm39) |
V273A |
probably damaging |
Het |
| Il23r |
A |
G |
6: 67,450,772 (GRCm39) |
|
probably benign |
Het |
| Il36b |
A |
T |
2: 24,049,890 (GRCm39) |
H167L |
probably benign |
Het |
| Ktn1 |
A |
G |
14: 47,967,836 (GRCm39) |
N1167D |
probably benign |
Het |
| Map6 |
C |
T |
7: 98,966,815 (GRCm39) |
T345I |
probably damaging |
Het |
| Mark2 |
A |
T |
19: 7,262,017 (GRCm39) |
|
probably benign |
Het |
| Nr1h5 |
T |
A |
3: 102,856,889 (GRCm39) |
K208* |
probably null |
Het |
| Obp2b |
T |
C |
2: 25,628,645 (GRCm39) |
L133P |
probably damaging |
Het |
| Ptafr |
C |
A |
4: 132,306,864 (GRCm39) |
L85I |
probably benign |
Het |
| Ptprk |
T |
A |
10: 28,139,504 (GRCm39) |
Y76* |
probably null |
Het |
| Rad50 |
A |
G |
11: 53,545,854 (GRCm39) |
|
probably benign |
Het |
| Rasef |
G |
T |
4: 73,681,091 (GRCm39) |
|
probably benign |
Het |
| Tbc1d17 |
T |
C |
7: 44,490,832 (GRCm39) |
N587D |
probably benign |
Het |
| Zc3h12c |
A |
T |
9: 52,055,047 (GRCm39) |
M235K |
probably benign |
Het |
| Zfp619 |
G |
A |
7: 39,186,706 (GRCm39) |
G912D |
probably damaging |
Het |
| Zfp982 |
A |
C |
4: 147,597,149 (GRCm39) |
K169Q |
probably benign |
Het |
|
| Other mutations in Gm5134 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00941:Gm5134
|
APN |
10 |
75,836,255 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL01371:Gm5134
|
APN |
10 |
75,840,581 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02140:Gm5134
|
APN |
10 |
75,821,945 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02197:Gm5134
|
APN |
10 |
75,790,536 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02233:Gm5134
|
APN |
10 |
75,844,334 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02612:Gm5134
|
APN |
10 |
75,828,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02896:Gm5134
|
APN |
10 |
75,810,058 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0021:Gm5134
|
UTSW |
10 |
75,829,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0021:Gm5134
|
UTSW |
10 |
75,829,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0035:Gm5134
|
UTSW |
10 |
75,829,698 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0110:Gm5134
|
UTSW |
10 |
75,810,079 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0499:Gm5134
|
UTSW |
10 |
75,828,359 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0510:Gm5134
|
UTSW |
10 |
75,810,079 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1429:Gm5134
|
UTSW |
10 |
75,814,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1726:Gm5134
|
UTSW |
10 |
75,828,361 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1918:Gm5134
|
UTSW |
10 |
75,812,180 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1956:Gm5134
|
UTSW |
10 |
75,840,680 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1993:Gm5134
|
UTSW |
10 |
75,802,227 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2049:Gm5134
|
UTSW |
10 |
75,840,718 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2188:Gm5134
|
UTSW |
10 |
75,831,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3551:Gm5134
|
UTSW |
10 |
75,836,281 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4074:Gm5134
|
UTSW |
10 |
75,844,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4435:Gm5134
|
UTSW |
10 |
75,831,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4466:Gm5134
|
UTSW |
10 |
75,844,409 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5180:Gm5134
|
UTSW |
10 |
75,812,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5446:Gm5134
|
UTSW |
10 |
75,831,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5601:Gm5134
|
UTSW |
10 |
75,821,786 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5627:Gm5134
|
UTSW |
10 |
75,821,942 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5777:Gm5134
|
UTSW |
10 |
75,840,594 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5867:Gm5134
|
UTSW |
10 |
75,844,450 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6145:Gm5134
|
UTSW |
10 |
75,831,673 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6232:Gm5134
|
UTSW |
10 |
75,821,859 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6271:Gm5134
|
UTSW |
10 |
75,831,643 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6329:Gm5134
|
UTSW |
10 |
75,790,494 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6723:Gm5134
|
UTSW |
10 |
75,844,453 (GRCm39) |
missense |
probably benign |
|
|
R7049:Gm5134
|
UTSW |
10 |
75,828,292 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7305:Gm5134
|
UTSW |
10 |
75,836,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7579:Gm5134
|
UTSW |
10 |
75,800,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9190:Gm5134
|
UTSW |
10 |
75,844,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9716:Gm5134
|
UTSW |
10 |
75,821,943 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9718:Gm5134
|
UTSW |
10 |
75,828,331 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
X0050:Gm5134
|
UTSW |
10 |
75,828,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-17 |
Incidental Mutation