Incidental Mutation 'IGL02899:Gm5591'
| ID |
363499 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gm5591
|
| Ensembl Gene |
ENSMUSG00000060565 |
| Gene Name |
predicted gene 5591 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.261)
|
| Stock # |
IGL02899
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
38217563-38227617 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 38218842 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 677
(L677P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078695
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079759]
|
| AlphaFold |
Q8CDK1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079759
AA Change: L677P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000078695
Gene: ENSMUSG00000060565
AA Change: L677P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
319 |
330 |
N/A |
INTRINSIC |
|
Pfam:DUF4629
|
437 |
582 |
1.2e-59 |
PFAM |
|
low complexity region
|
648 |
660 |
N/A |
INTRINSIC |
|
low complexity region
|
693 |
704 |
N/A |
INTRINSIC |
|
low complexity region
|
711 |
723 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186462
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arfgef2 |
A |
G |
2: 166,710,971 (GRCm39) |
|
probably benign |
Het |
| Btbd7 |
A |
G |
12: 102,803,921 (GRCm39) |
L373P |
probably damaging |
Het |
| Capn3 |
A |
G |
2: 120,322,382 (GRCm39) |
N414S |
possibly damaging |
Het |
| Ccdc186 |
A |
T |
19: 56,781,920 (GRCm39) |
I753N |
probably benign |
Het |
| Ccser2 |
G |
A |
14: 36,662,716 (GRCm39) |
T156I |
probably benign |
Het |
| Celsr1 |
A |
G |
15: 85,915,927 (GRCm39) |
M682T |
probably damaging |
Het |
| Cep97 |
C |
A |
16: 55,738,903 (GRCm39) |
S267I |
probably damaging |
Het |
| Dhx35 |
A |
G |
2: 158,643,370 (GRCm39) |
Y39C |
probably damaging |
Het |
| Dscam |
A |
T |
16: 96,510,447 (GRCm39) |
D937E |
probably damaging |
Het |
| Elmod2 |
A |
G |
8: 84,043,562 (GRCm39) |
Y202H |
probably damaging |
Het |
| Fyco1 |
T |
C |
9: 123,659,396 (GRCm39) |
N260S |
possibly damaging |
Het |
| Gmppa |
A |
G |
1: 75,418,474 (GRCm39) |
|
probably null |
Het |
| Hltf |
C |
T |
3: 20,153,981 (GRCm39) |
T639I |
probably damaging |
Het |
| Inhca |
C |
A |
9: 103,154,773 (GRCm39) |
V173L |
probably damaging |
Het |
| Kpnb1 |
T |
C |
11: 97,066,612 (GRCm39) |
Y321C |
probably damaging |
Het |
| Lgr4 |
G |
A |
2: 109,748,598 (GRCm39) |
G45R |
probably damaging |
Het |
| Ltn1 |
T |
C |
16: 87,179,547 (GRCm39) |
D1538G |
probably benign |
Het |
| Maf1 |
T |
A |
15: 76,237,220 (GRCm39) |
|
probably benign |
Het |
| Morn5 |
T |
C |
2: 35,945,049 (GRCm39) |
F91S |
probably damaging |
Het |
| Ncan |
C |
T |
8: 70,567,698 (GRCm39) |
R138H |
possibly damaging |
Het |
| Or10ak7 |
A |
T |
4: 118,791,859 (GRCm39) |
M62K |
probably damaging |
Het |
| Or5ac21 |
G |
T |
16: 59,123,649 (GRCm39) |
L44F |
probably damaging |
Het |
| Parg |
T |
C |
14: 31,960,531 (GRCm39) |
L82S |
probably damaging |
Het |
| Ppp2r2b |
A |
T |
18: 42,778,874 (GRCm39) |
H417Q |
probably damaging |
Het |
| Rb1cc1 |
T |
C |
1: 6,334,807 (GRCm39) |
L98P |
probably damaging |
Het |
| Ryr1 |
C |
A |
7: 28,748,220 (GRCm39) |
V3752L |
possibly damaging |
Het |
| Slc25a12 |
A |
G |
2: 71,109,979 (GRCm39) |
L489P |
probably damaging |
Het |
| Slc38a8 |
C |
T |
8: 120,212,282 (GRCm39) |
V354M |
probably benign |
Het |
| Slf2 |
A |
G |
19: 44,930,459 (GRCm39) |
E512G |
probably benign |
Het |
| Tarbp1 |
A |
G |
8: 127,180,583 (GRCm39) |
M597T |
probably damaging |
Het |
| Tgfb3 |
G |
A |
12: 86,116,550 (GRCm39) |
R163C |
probably damaging |
Het |
| Tmco5b |
A |
G |
2: 113,127,265 (GRCm39) |
M279V |
probably benign |
Het |
| Ttll9 |
G |
A |
2: 152,844,871 (GRCm39) |
G413D |
probably damaging |
Het |
| Tut1 |
A |
G |
19: 8,939,751 (GRCm39) |
D245G |
probably damaging |
Het |
| Usf3 |
T |
A |
16: 44,041,589 (GRCm39) |
V2023E |
probably damaging |
Het |
| Vps33a |
C |
T |
5: 123,669,239 (GRCm39) |
G554D |
probably damaging |
Het |
| Zfp27 |
C |
A |
7: 29,595,680 (GRCm39) |
R95M |
possibly damaging |
Het |
|
| Other mutations in Gm5591 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00990:Gm5591
|
APN |
7 |
38,219,838 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02277:Gm5591
|
APN |
7 |
38,218,462 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02277:Gm5591
|
APN |
7 |
38,219,856 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02503:Gm5591
|
APN |
7 |
38,219,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02897:Gm5591
|
APN |
7 |
38,219,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1599:Gm5591
|
UTSW |
7 |
38,219,794 (GRCm39) |
missense |
probably benign |
|
|
R2365:Gm5591
|
UTSW |
7 |
38,218,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3054:Gm5591
|
UTSW |
7 |
38,220,058 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4619:Gm5591
|
UTSW |
7 |
38,220,072 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4722:Gm5591
|
UTSW |
7 |
38,218,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4779:Gm5591
|
UTSW |
7 |
38,221,680 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5079:Gm5591
|
UTSW |
7 |
38,221,560 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5237:Gm5591
|
UTSW |
7 |
38,221,631 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5267:Gm5591
|
UTSW |
7 |
38,218,338 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6337:Gm5591
|
UTSW |
7 |
38,221,319 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6458:Gm5591
|
UTSW |
7 |
38,218,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6671:Gm5591
|
UTSW |
7 |
38,219,523 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6709:Gm5591
|
UTSW |
7 |
38,221,499 (GRCm39) |
missense |
probably benign |
0.31 |
|
R6874:Gm5591
|
UTSW |
7 |
38,219,715 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6917:Gm5591
|
UTSW |
7 |
38,221,614 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6993:Gm5591
|
UTSW |
7 |
38,218,647 (GRCm39) |
missense |
probably benign |
|
|
R7446:Gm5591
|
UTSW |
7 |
38,218,933 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7519:Gm5591
|
UTSW |
7 |
38,220,094 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7596:Gm5591
|
UTSW |
7 |
38,219,608 (GRCm39) |
missense |
probably benign |
|
|
R7923:Gm5591
|
UTSW |
7 |
38,221,338 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8003:Gm5591
|
UTSW |
7 |
38,219,183 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8027:Gm5591
|
UTSW |
7 |
38,221,722 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8058:Gm5591
|
UTSW |
7 |
38,218,363 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8242:Gm5591
|
UTSW |
7 |
38,219,746 (GRCm39) |
missense |
probably benign |
|
|
R8719:Gm5591
|
UTSW |
7 |
38,221,614 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8943:Gm5591
|
UTSW |
7 |
38,219,727 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9314:Gm5591
|
UTSW |
7 |
38,221,884 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9403:Gm5591
|
UTSW |
7 |
38,221,680 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9403:Gm5591
|
UTSW |
7 |
38,219,572 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9424:Gm5591
|
UTSW |
7 |
38,219,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF052:Gm5591
|
UTSW |
7 |
38,221,999 (GRCm39) |
frame shift |
probably null |
|
|
RF062:Gm5591
|
UTSW |
7 |
38,221,759 (GRCm39) |
frame shift |
probably null |
|
|
| Posted On |
2015-12-18 |
Incidental Mutation