Incidental Mutation 'IGL01097:Gm57859'
ID |
52280 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gm57859
|
Ensembl Gene |
ENSMUSG00000041623 |
Gene Name |
predicted gene, 57859 |
Synonyms |
D11Wsu47e |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
IGL01097
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
113575238-113585473 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 113583296 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 541
(I541T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102232
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042227]
[ENSMUST00000106621]
[ENSMUST00000123466]
[ENSMUST00000153732]
|
AlphaFold |
Q6PIX9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042227
AA Change: I541T
PolyPhen 2
Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000042025 Gene: ENSMUSG00000041623 AA Change: I541T
Domain | Start | End | E-Value | Type |
low complexity region
|
273 |
283 |
N/A |
INTRINSIC |
low complexity region
|
491 |
510 |
N/A |
INTRINSIC |
transmembrane domain
|
529 |
548 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106621
AA Change: I541T
PolyPhen 2
Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000102232 Gene: ENSMUSG00000041623 AA Change: I541T
Domain | Start | End | E-Value | Type |
low complexity region
|
273 |
283 |
N/A |
INTRINSIC |
low complexity region
|
491 |
510 |
N/A |
INTRINSIC |
transmembrane domain
|
529 |
548 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123466
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153732
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 19 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi2 |
C |
T |
1: 60,486,505 (GRCm39) |
A75V |
probably damaging |
Het |
Bud23 |
G |
A |
5: 135,089,935 (GRCm39) |
A86V |
probably damaging |
Het |
Dnajc5 |
T |
C |
2: 181,189,149 (GRCm39) |
Y42H |
probably benign |
Het |
Fchsd1 |
T |
C |
18: 38,100,810 (GRCm39) |
|
probably null |
Het |
Fnbp4 |
C |
A |
2: 90,606,694 (GRCm39) |
A835D |
possibly damaging |
Het |
Grin2d |
A |
T |
7: 45,502,716 (GRCm39) |
N718K |
probably damaging |
Het |
Gsdma3 |
A |
G |
11: 98,528,398 (GRCm39) |
K357E |
probably damaging |
Het |
Impg2 |
T |
A |
16: 56,081,010 (GRCm39) |
|
probably null |
Het |
Lrrtm2 |
A |
T |
18: 35,345,994 (GRCm39) |
I436N |
probably damaging |
Het |
Mterf2 |
T |
A |
10: 84,955,677 (GRCm39) |
I316L |
probably damaging |
Het |
Nav2 |
G |
A |
7: 49,220,942 (GRCm39) |
A1710T |
probably damaging |
Het |
Nrros |
A |
G |
16: 31,963,003 (GRCm39) |
V338A |
possibly damaging |
Het |
Or2f2 |
T |
G |
6: 42,767,077 (GRCm39) |
Y35D |
probably damaging |
Het |
Or52a20 |
G |
T |
7: 103,366,328 (GRCm39) |
V176F |
probably benign |
Het |
Pappa2 |
T |
C |
1: 158,684,718 (GRCm39) |
Y807C |
probably damaging |
Het |
Slc44a4 |
T |
C |
17: 35,140,545 (GRCm39) |
L246P |
probably damaging |
Het |
Stat6 |
T |
C |
10: 127,490,801 (GRCm39) |
S407P |
probably damaging |
Het |
Ttpal |
T |
C |
2: 163,449,240 (GRCm39) |
Y32H |
probably damaging |
Het |
Zfp523 |
A |
G |
17: 28,420,023 (GRCm39) |
K223E |
possibly damaging |
Het |
|
Other mutations in Gm57859 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01701:Gm57859
|
APN |
11 |
113,579,927 (GRCm39) |
missense |
probably benign |
0.27 |
R0483:Gm57859
|
UTSW |
11 |
113,580,021 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0601:Gm57859
|
UTSW |
11 |
113,578,712 (GRCm39) |
missense |
probably benign |
0.38 |
R1567:Gm57859
|
UTSW |
11 |
113,578,728 (GRCm39) |
missense |
probably damaging |
0.99 |
R4834:Gm57859
|
UTSW |
11 |
113,579,805 (GRCm39) |
missense |
probably benign |
0.03 |
R4923:Gm57859
|
UTSW |
11 |
113,579,805 (GRCm39) |
missense |
probably benign |
0.03 |
R5194:Gm57859
|
UTSW |
11 |
113,579,654 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5779:Gm57859
|
UTSW |
11 |
113,578,818 (GRCm39) |
missense |
probably benign |
0.02 |
R5815:Gm57859
|
UTSW |
11 |
113,578,783 (GRCm39) |
splice site |
probably null |
|
R6174:Gm57859
|
UTSW |
11 |
113,579,801 (GRCm39) |
missense |
possibly damaging |
0.46 |
R6566:Gm57859
|
UTSW |
11 |
113,578,824 (GRCm39) |
missense |
probably damaging |
0.96 |
R6837:Gm57859
|
UTSW |
11 |
113,579,439 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6974:Gm57859
|
UTSW |
11 |
113,578,818 (GRCm39) |
missense |
probably benign |
0.02 |
R7497:Gm57859
|
UTSW |
11 |
113,583,223 (GRCm39) |
missense |
probably damaging |
0.97 |
R9439:Gm57859
|
UTSW |
11 |
113,583,229 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2013-06-21 |