Incidental Mutation 'IGL00962:AY761185'
ID |
28055 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
AY761185
|
Ensembl Gene |
ENSMUSG00000079120 |
Gene Name |
cDNA sequence AY761185 |
Synonyms |
CRS4C-6 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.053)
|
Stock # |
IGL00962
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
21433710-21434726 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 21434611 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 39
(D39G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106386
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110758]
|
AlphaFold |
Q5ERI8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110758
AA Change: D39G
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000106386 Gene: ENSMUSG00000079120 AA Change: D39G
Domain | Start | End | E-Value | Type |
Pfam:Defensin_propep
|
1 |
51 |
2.2e-24 |
PFAM |
low complexity region
|
61 |
89 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afg3l2 |
C |
T |
18: 67,564,723 (GRCm39) |
|
probably null |
Het |
Atp8b1 |
C |
T |
18: 64,664,515 (GRCm39) |
A1218T |
probably damaging |
Het |
Fam167a |
G |
A |
14: 63,699,904 (GRCm39) |
E155K |
probably damaging |
Het |
Fat3 |
C |
T |
9: 15,826,815 (GRCm39) |
G4379D |
probably benign |
Het |
Fkbp10 |
A |
G |
11: 100,312,643 (GRCm39) |
T300A |
probably benign |
Het |
Gm6665 |
T |
C |
18: 31,953,204 (GRCm39) |
K57R |
probably benign |
Het |
Gnb4 |
T |
C |
3: 32,647,318 (GRCm39) |
T86A |
probably benign |
Het |
H2-Q2 |
A |
G |
17: 35,561,825 (GRCm39) |
Y105C |
probably damaging |
Het |
Ighv1-75 |
A |
G |
12: 115,797,883 (GRCm39) |
|
probably benign |
Het |
Ilvbl |
A |
G |
10: 78,419,172 (GRCm39) |
T474A |
possibly damaging |
Het |
Shld2 |
A |
T |
14: 33,971,208 (GRCm39) |
V559E |
probably damaging |
Het |
Slc45a3 |
T |
A |
1: 131,905,265 (GRCm39) |
V96D |
probably damaging |
Het |
Tmtc3 |
C |
T |
10: 100,307,815 (GRCm39) |
G201R |
probably damaging |
Het |
Tnfsf14 |
G |
A |
17: 57,499,906 (GRCm39) |
Q83* |
probably null |
Het |
Trpm2 |
A |
G |
10: 77,779,750 (GRCm39) |
|
probably benign |
Het |
Ubr5 |
A |
T |
15: 37,986,178 (GRCm39) |
F2219I |
probably damaging |
Het |
Utrn |
C |
T |
10: 12,357,078 (GRCm39) |
V2747I |
possibly damaging |
Het |
Vcan |
T |
C |
13: 89,810,171 (GRCm39) |
N3207D |
probably damaging |
Het |
Vmn1r35 |
A |
G |
6: 66,656,361 (GRCm39) |
V103A |
possibly damaging |
Het |
Vmn2r97 |
A |
G |
17: 19,149,490 (GRCm39) |
T293A |
probably damaging |
Het |
Wdr35 |
A |
G |
12: 9,071,726 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in AY761185 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03141:AY761185
|
APN |
8 |
21,434,576 (GRCm39) |
missense |
possibly damaging |
0.56 |
FR4589:AY761185
|
UTSW |
8 |
21,433,919 (GRCm39) |
frame shift |
probably null |
|
R0053:AY761185
|
UTSW |
8 |
21,434,546 (GRCm39) |
splice site |
probably benign |
|
R0053:AY761185
|
UTSW |
8 |
21,434,546 (GRCm39) |
splice site |
probably benign |
|
R0270:AY761185
|
UTSW |
8 |
21,434,616 (GRCm39) |
missense |
possibly damaging |
0.77 |
R5274:AY761185
|
UTSW |
8 |
21,433,889 (GRCm39) |
missense |
unknown |
|
R6636:AY761185
|
UTSW |
8 |
21,434,556 (GRCm39) |
splice site |
probably null |
|
R6888:AY761185
|
UTSW |
8 |
21,434,571 (GRCm39) |
nonsense |
probably null |
|
RF010:AY761185
|
UTSW |
8 |
21,433,927 (GRCm39) |
frame shift |
probably null |
|
RF025:AY761185
|
UTSW |
8 |
21,433,918 (GRCm39) |
frame shift |
probably null |
|
RF030:AY761185
|
UTSW |
8 |
21,433,916 (GRCm39) |
frame shift |
probably null |
|
RF033:AY761185
|
UTSW |
8 |
21,433,904 (GRCm39) |
small deletion |
probably benign |
|
RF041:AY761185
|
UTSW |
8 |
21,433,928 (GRCm39) |
frame shift |
probably null |
|
RF059:AY761185
|
UTSW |
8 |
21,433,930 (GRCm39) |
frame shift |
probably null |
|
|
Posted On |
2013-04-17 |