Incidental Mutation 'IGL02277:Gm5591'
ID |
287358 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gm5591
|
Ensembl Gene |
ENSMUSG00000060565 |
Gene Name |
predicted gene 5591 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.215)
|
Stock # |
IGL02277
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
38217563-38227617 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 38219856 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 339
(D339G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000078695
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079759]
|
AlphaFold |
Q8CDK1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000079759
AA Change: D339G
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000078695 Gene: ENSMUSG00000060565 AA Change: D339G
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017B05Rik |
C |
T |
9: 57,165,708 (GRCm39) |
G222D |
probably benign |
Het |
Abcc6 |
T |
C |
7: 45,650,485 (GRCm39) |
D625G |
probably benign |
Het |
Akr1c12 |
C |
T |
13: 4,322,268 (GRCm39) |
R258Q |
probably damaging |
Het |
Akr1c20 |
T |
A |
13: 4,564,404 (GRCm39) |
E36D |
probably benign |
Het |
Csn2 |
A |
G |
5: 87,845,881 (GRCm39) |
|
probably benign |
Het |
Dennd5a |
T |
C |
7: 109,497,176 (GRCm39) |
I1084V |
possibly damaging |
Het |
Dlg1 |
A |
G |
16: 31,609,082 (GRCm39) |
I259V |
probably damaging |
Het |
Dpysl5 |
A |
G |
5: 30,946,125 (GRCm39) |
I344V |
probably damaging |
Het |
Fcrl6 |
A |
G |
1: 172,426,686 (GRCm39) |
C87R |
probably damaging |
Het |
Fras1 |
A |
G |
5: 96,735,977 (GRCm39) |
E524G |
probably benign |
Het |
Gabpb2 |
A |
G |
3: 95,096,595 (GRCm39) |
V270A |
probably benign |
Het |
Ighv2-5 |
T |
A |
12: 113,649,127 (GRCm39) |
T109S |
possibly damaging |
Het |
Ints4 |
T |
A |
7: 97,136,665 (GRCm39) |
L119Q |
probably damaging |
Het |
Kansl3 |
A |
T |
1: 36,388,028 (GRCm39) |
D386E |
possibly damaging |
Het |
Kdm3b |
A |
T |
18: 34,956,717 (GRCm39) |
H1224L |
probably damaging |
Het |
Macf1 |
C |
A |
4: 123,380,497 (GRCm39) |
R1523L |
probably damaging |
Het |
Myo1f |
A |
G |
17: 33,798,835 (GRCm39) |
|
probably null |
Het |
Nup188 |
A |
G |
2: 30,216,523 (GRCm39) |
T776A |
possibly damaging |
Het |
Or1q1 |
G |
A |
2: 36,887,196 (GRCm39) |
|
probably null |
Het |
Or2y8 |
T |
A |
11: 52,036,189 (GRCm39) |
H56L |
probably damaging |
Het |
Or4f56 |
T |
A |
2: 111,703,925 (GRCm39) |
I92F |
possibly damaging |
Het |
Plxnb1 |
T |
A |
9: 108,941,201 (GRCm39) |
L1660Q |
probably damaging |
Het |
Ppp1r17 |
A |
G |
6: 56,003,123 (GRCm39) |
D71G |
probably damaging |
Het |
Ptprt |
T |
C |
2: 161,389,301 (GRCm39) |
Q1264R |
probably damaging |
Het |
Rgl3 |
C |
T |
9: 21,885,405 (GRCm39) |
V642M |
probably damaging |
Het |
Slc26a2 |
T |
C |
18: 61,332,052 (GRCm39) |
T460A |
probably damaging |
Het |
Smtnl2 |
T |
A |
11: 72,282,199 (GRCm39) |
M395L |
probably damaging |
Het |
St3gal5 |
A |
T |
6: 72,119,184 (GRCm39) |
T99S |
possibly damaging |
Het |
Unc5b |
T |
C |
10: 60,610,521 (GRCm39) |
N421S |
probably benign |
Het |
Zcchc17 |
G |
A |
4: 130,221,014 (GRCm39) |
T179M |
probably benign |
Het |
Zfp369 |
T |
C |
13: 65,432,746 (GRCm39) |
S79P |
probably 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 |
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 |
IGL02899:Gm5591
|
APN |
7 |
38,218,842 (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 |
2015-04-16 |