Incidental Mutation 'IGL02344:AI467606'
ID |
289214 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
AI467606
|
Ensembl Gene |
ENSMUSG00000045165 |
Gene Name |
expressed sequence AI467606 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02344
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
126690531-126693158 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 126691691 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 89
(A89S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146315
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056288]
[ENSMUST00000206102]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000056288
AA Change: A89S
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000063016 Gene: ENSMUSG00000045165 AA Change: A89S
Domain | Start | End | E-Value | Type |
Pfam:DUF4689
|
1 |
224 |
1.1e-118 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000206102
AA Change: A89S
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AI182371 |
T |
C |
2: 34,979,198 (GRCm39) |
N167D |
probably benign |
Het |
Atrip |
T |
A |
9: 108,901,692 (GRCm39) |
K122* |
probably null |
Het |
B3glct |
C |
T |
5: 149,650,313 (GRCm39) |
R139* |
probably null |
Het |
Cep135 |
A |
G |
5: 76,764,668 (GRCm39) |
T549A |
probably benign |
Het |
Chd8 |
T |
C |
14: 52,439,107 (GRCm39) |
N64S |
probably damaging |
Het |
Dock2 |
T |
C |
11: 34,622,337 (GRCm39) |
I101V |
probably damaging |
Het |
Ipo5 |
T |
C |
14: 121,180,191 (GRCm39) |
|
probably benign |
Het |
Ly6g5c |
A |
G |
17: 35,329,723 (GRCm39) |
T68A |
possibly damaging |
Het |
Mthfd1l |
A |
G |
10: 3,998,272 (GRCm39) |
|
probably null |
Het |
Nme8 |
T |
A |
13: 19,858,574 (GRCm39) |
E88V |
possibly damaging |
Het |
Ptpn4 |
A |
T |
1: 119,700,990 (GRCm39) |
D86E |
probably damaging |
Het |
Rnf169 |
A |
G |
7: 99,575,642 (GRCm39) |
S318P |
probably damaging |
Het |
Sidt2 |
T |
C |
9: 45,856,590 (GRCm39) |
Y493C |
probably null |
Het |
Speer4c2 |
C |
A |
5: 15,861,884 (GRCm39) |
|
probably benign |
Het |
Tet3 |
A |
G |
6: 83,380,815 (GRCm39) |
V451A |
probably benign |
Het |
Tmc3 |
A |
T |
7: 83,258,302 (GRCm39) |
I431L |
probably benign |
Het |
Trp73 |
C |
T |
4: 154,146,500 (GRCm39) |
G420S |
possibly damaging |
Het |
Vmn2r108 |
T |
C |
17: 20,689,405 (GRCm39) |
S517G |
probably damaging |
Het |
|
Other mutations in AI467606 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00500:AI467606
|
APN |
7 |
126,691,505 (GRCm39) |
missense |
probably benign |
0.08 |
IGL00952:AI467606
|
APN |
7 |
126,691,874 (GRCm39) |
missense |
probably damaging |
0.98 |
R0401:AI467606
|
UTSW |
7 |
126,691,608 (GRCm39) |
missense |
probably damaging |
1.00 |
R1628:AI467606
|
UTSW |
7 |
126,691,755 (GRCm39) |
missense |
probably benign |
|
R2063:AI467606
|
UTSW |
7 |
126,692,009 (GRCm39) |
missense |
probably damaging |
1.00 |
R5520:AI467606
|
UTSW |
7 |
126,691,998 (GRCm39) |
missense |
probably benign |
|
R6392:AI467606
|
UTSW |
7 |
126,691,717 (GRCm39) |
nonsense |
probably null |
|
R7941:AI467606
|
UTSW |
7 |
126,691,593 (GRCm39) |
missense |
probably damaging |
1.00 |
R8984:AI467606
|
UTSW |
7 |
126,691,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |