Incidental Mutation 'IGL01371:Gm5134'
| ID |
76147 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gm5134
|
| Ensembl Gene |
ENSMUSG00000033255 |
| Gene Name |
predicted gene 5134 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.113)
|
| Stock # |
IGL01371
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
75790348-75845425 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 75840581 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 475
(L475R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097172
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099577]
|
| AlphaFold |
E9QAB5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099577
AA Change: L475R
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000097172
Gene: ENSMUSG00000033255
AA Change: L475R
| 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: ENSMUST00000184957
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
C |
T |
6: 142,602,340 (GRCm39) |
R691Q |
probably benign |
Het |
| Ambra1 |
G |
T |
2: 91,655,631 (GRCm39) |
G700W |
probably damaging |
Het |
| Atp6v1c1 |
A |
G |
15: 38,683,204 (GRCm39) |
I198V |
probably benign |
Het |
| Bptf |
T |
C |
11: 106,946,733 (GRCm39) |
N2353S |
probably benign |
Het |
| Cd84 |
A |
T |
1: 171,713,937 (GRCm39) |
T312S |
probably benign |
Het |
| Chl1 |
G |
T |
6: 103,692,325 (GRCm39) |
C1064F |
probably damaging |
Het |
| Clca4a |
T |
C |
3: 144,666,433 (GRCm39) |
D473G |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,377,593 (GRCm39) |
R1793G |
probably benign |
Het |
| Dync1h1 |
A |
G |
12: 110,605,285 (GRCm39) |
N2374S |
probably benign |
Het |
| Ecpas |
A |
G |
4: 58,809,718 (GRCm39) |
L1583P |
probably damaging |
Het |
| Gm43191 |
A |
T |
3: 116,439,112 (GRCm39) |
I130N |
probably damaging |
Het |
| Grm1 |
A |
G |
10: 10,595,783 (GRCm39) |
V615A |
probably benign |
Het |
| Inhca |
T |
C |
9: 103,131,975 (GRCm39) |
E504G |
possibly damaging |
Het |
| Loxl1 |
T |
A |
9: 58,201,705 (GRCm39) |
Q462L |
possibly damaging |
Het |
| Nwd1 |
T |
C |
8: 73,401,743 (GRCm39) |
W755R |
probably damaging |
Het |
| Or10j27 |
A |
G |
1: 172,958,098 (GRCm39) |
S229P |
possibly damaging |
Het |
| Or5b106 |
G |
A |
19: 13,123,192 (GRCm39) |
T277I |
possibly damaging |
Het |
| Or5t17 |
A |
T |
2: 86,833,267 (GRCm39) |
K318M |
probably benign |
Het |
| Otud4 |
T |
C |
8: 80,400,390 (GRCm39) |
F1034L |
probably damaging |
Het |
| Pakap |
C |
A |
4: 57,856,325 (GRCm39) |
D551E |
probably benign |
Het |
| Panx3 |
T |
G |
9: 37,572,771 (GRCm39) |
T260P |
probably benign |
Het |
| Ppfia4 |
A |
T |
1: 134,255,824 (GRCm39) |
S194T |
probably benign |
Het |
| Rnf135 |
T |
A |
11: 80,080,081 (GRCm39) |
I124N |
probably benign |
Het |
| Rpf1 |
T |
C |
3: 146,213,302 (GRCm39) |
N283S |
probably damaging |
Het |
| Smg5 |
A |
G |
3: 88,266,951 (GRCm39) |
|
probably benign |
Het |
| Stard9 |
A |
G |
2: 120,531,849 (GRCm39) |
E2702G |
probably benign |
Het |
| Tbk1 |
A |
T |
10: 121,395,776 (GRCm39) |
M439K |
probably benign |
Het |
| Tmem235 |
T |
C |
11: 117,753,132 (GRCm39) |
L85P |
possibly damaging |
Het |
| Trhde |
A |
T |
10: 114,424,405 (GRCm39) |
V460E |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,620,608 (GRCm39) |
|
probably benign |
Het |
| Vmn1r83 |
A |
G |
7: 12,055,160 (GRCm39) |
F299S |
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 |
|
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 |
|
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 |
2013-10-07 |
Incidental Mutation