Incidental Mutation 'IGL02053:AY358078'
| ID |
185126 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
AY358078
|
| Ensembl Gene |
ENSMUSG00000050961 |
| Gene Name |
cDNA sequence AY358078 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
IGL02053
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
52037503-52063816 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 52043009 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 232
(E232D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078129
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053821]
|
| AlphaFold |
Q6UY53 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000053821
AA Change: E232D
|
| SMART Domains |
Protein: ENSMUSP00000078129
Gene: ENSMUSG00000050961
AA Change: E232D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Takusan
|
91 |
171 |
5.5e-26 |
PFAM |
|
coiled coil region
|
187 |
220 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf5 |
T |
C |
17: 43,761,058 (GRCm39) |
S918P |
possibly damaging |
Het |
| Baz1b |
C |
A |
5: 135,271,320 (GRCm39) |
P1301Q |
probably benign |
Het |
| Btn2a2 |
T |
C |
13: 23,662,990 (GRCm39) |
D311G |
probably damaging |
Het |
| Cept1 |
A |
T |
3: 106,440,712 (GRCm39) |
L149Q |
probably damaging |
Het |
| Clec2m |
T |
C |
6: 129,303,725 (GRCm39) |
Q80R |
probably benign |
Het |
| Col6a4 |
T |
A |
9: 105,940,294 (GRCm39) |
D1212V |
possibly damaging |
Het |
| Cyp2j8 |
T |
C |
4: 96,358,891 (GRCm39) |
I343V |
probably damaging |
Het |
| Dapk2 |
A |
G |
9: 66,128,027 (GRCm39) |
I102V |
probably benign |
Het |
| Dntt |
A |
G |
19: 41,034,713 (GRCm39) |
T321A |
probably benign |
Het |
| Entrep2 |
C |
T |
7: 64,469,590 (GRCm39) |
G53R |
probably damaging |
Het |
| Ezh1 |
T |
C |
11: 101,090,769 (GRCm39) |
|
probably benign |
Het |
| Fbxw5 |
T |
C |
2: 25,393,453 (GRCm39) |
V18A |
probably damaging |
Het |
| Fgd5 |
T |
A |
6: 92,030,225 (GRCm39) |
C1109S |
probably benign |
Het |
| Ms4a6c |
A |
G |
19: 11,455,586 (GRCm39) |
I132V |
probably benign |
Het |
| Ncoa3 |
T |
C |
2: 165,896,754 (GRCm39) |
L515P |
probably damaging |
Het |
| Nfic |
A |
G |
10: 81,256,385 (GRCm39) |
V115A |
probably damaging |
Het |
| P4ha2 |
A |
G |
11: 54,008,413 (GRCm39) |
T207A |
probably benign |
Het |
| Pde10a |
G |
T |
17: 9,193,601 (GRCm39) |
V732L |
probably damaging |
Het |
| Pfas |
A |
T |
11: 68,883,779 (GRCm39) |
L626Q |
probably damaging |
Het |
| Plekha6 |
A |
G |
1: 133,200,230 (GRCm39) |
N270D |
probably damaging |
Het |
| Prdm10 |
T |
C |
9: 31,272,144 (GRCm39) |
S977P |
probably benign |
Het |
| Ptprm |
A |
G |
17: 67,000,836 (GRCm39) |
L1073P |
probably damaging |
Het |
| Rai14 |
A |
C |
15: 10,633,242 (GRCm39) |
H49Q |
probably benign |
Het |
| Ros1 |
T |
A |
10: 52,038,816 (GRCm39) |
I394F |
probably damaging |
Het |
| Sec14l1 |
C |
T |
11: 117,047,738 (GRCm39) |
|
probably benign |
Het |
| Sema5a |
A |
G |
15: 32,550,413 (GRCm39) |
I151V |
probably benign |
Het |
| Tet2 |
T |
A |
3: 133,194,284 (GRCm39) |
N50I |
possibly damaging |
Het |
| Tubal3 |
A |
C |
13: 3,983,159 (GRCm39) |
D313A |
probably damaging |
Het |
| Usp45 |
A |
G |
4: 21,824,553 (GRCm39) |
N483S |
probably benign |
Het |
|
| Other mutations in AY358078 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01327:AY358078
|
APN |
14 |
52,043,166 (GRCm39) |
splice site |
probably benign |
|
|
IGL02057:AY358078
|
APN |
14 |
52,057,762 (GRCm39) |
missense |
unknown |
|
|
IGL02498:AY358078
|
APN |
14 |
52,040,944 (GRCm39) |
missense |
probably benign |
0.00 |
|
FR4737:AY358078
|
UTSW |
14 |
52,043,155 (GRCm39) |
missense |
unknown |
|
|
R0140:AY358078
|
UTSW |
14 |
52,063,399 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0466:AY358078
|
UTSW |
14 |
52,043,089 (GRCm39) |
missense |
unknown |
|
|
R0496:AY358078
|
UTSW |
14 |
52,040,989 (GRCm39) |
missense |
unknown |
|
|
R1546:AY358078
|
UTSW |
14 |
52,057,876 (GRCm39) |
splice site |
probably null |
|
|
R1793:AY358078
|
UTSW |
14 |
52,042,051 (GRCm39) |
missense |
unknown |
|
|
R1867:AY358078
|
UTSW |
14 |
52,037,504 (GRCm39) |
start codon destroyed |
probably null |
0.01 |
|
R1993:AY358078
|
UTSW |
14 |
52,063,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1994:AY358078
|
UTSW |
14 |
52,063,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1995:AY358078
|
UTSW |
14 |
52,063,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2184:AY358078
|
UTSW |
14 |
52,063,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2322:AY358078
|
UTSW |
14 |
52,042,147 (GRCm39) |
missense |
unknown |
|
|
R2441:AY358078
|
UTSW |
14 |
52,037,546 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3851:AY358078
|
UTSW |
14 |
52,043,010 (GRCm39) |
missense |
unknown |
|
|
R3852:AY358078
|
UTSW |
14 |
52,043,010 (GRCm39) |
missense |
unknown |
|
|
R4600:AY358078
|
UTSW |
14 |
52,063,532 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4603:AY358078
|
UTSW |
14 |
52,063,532 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4610:AY358078
|
UTSW |
14 |
52,063,532 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4611:AY358078
|
UTSW |
14 |
52,063,532 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4916:AY358078
|
UTSW |
14 |
52,040,108 (GRCm39) |
missense |
unknown |
|
|
R5096:AY358078
|
UTSW |
14 |
52,063,575 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5143:AY358078
|
UTSW |
14 |
52,040,006 (GRCm39) |
missense |
unknown |
|
|
R5609:AY358078
|
UTSW |
14 |
52,042,065 (GRCm39) |
missense |
unknown |
|
|
R5651:AY358078
|
UTSW |
14 |
52,059,617 (GRCm39) |
missense |
unknown |
|
|
R6345:AY358078
|
UTSW |
14 |
52,063,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6988:AY358078
|
UTSW |
14 |
52,063,644 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7340:AY358078
|
UTSW |
14 |
52,063,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8432:AY358078
|
UTSW |
14 |
52,059,635 (GRCm39) |
missense |
unknown |
|
|
R8684:AY358078
|
UTSW |
14 |
52,059,597 (GRCm39) |
nonsense |
probably null |
|
|
RF002:AY358078
|
UTSW |
14 |
52,043,050 (GRCm39) |
nonsense |
probably null |
|
|
RF017:AY358078
|
UTSW |
14 |
52,043,050 (GRCm39) |
nonsense |
probably null |
|
|
RF025:AY358078
|
UTSW |
14 |
52,043,046 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation