Incidental Mutation 'IGL00987:Eya2'
ID |
27045 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Eya2
|
Ensembl Gene |
ENSMUSG00000017897 |
Gene Name |
EYA transcriptional coactivator and phosphatase 2 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.830)
|
Stock # |
IGL00987
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
165436952-165613647 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 165596401 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 304
(E304G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000085455
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063433]
[ENSMUST00000088132]
|
AlphaFold |
O08575 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000063433
AA Change: E304G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000066244 Gene: ENSMUSG00000017897 AA Change: E304G
Domain | Start | End | E-Value | Type |
low complexity region
|
73 |
88 |
N/A |
INTRINSIC |
low complexity region
|
184 |
195 |
N/A |
INTRINSIC |
PDB:4EGC|B
|
247 |
532 |
N/A |
PDB |
SCOP:d1lvha_
|
367 |
511 |
3e-3 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000088132
AA Change: E304G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000085455 Gene: ENSMUSG00000017897 AA Change: E304G
Domain | Start | End | E-Value | Type |
low complexity region
|
73 |
88 |
N/A |
INTRINSIC |
low complexity region
|
184 |
195 |
N/A |
INTRINSIC |
Pfam:Hydrolase
|
262 |
508 |
1.5e-9 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150638
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a member of the eyes absent protein family. The encoded protein is a tyrosine phosphatase which acts as a transcriptional activator during development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot9 |
T |
C |
X: 154,078,177 (GRCm39) |
I241T |
probably benign |
Het |
Atp5mc3 |
T |
A |
2: 73,740,270 (GRCm39) |
R19* |
probably null |
Het |
Celf4 |
T |
C |
18: 25,620,007 (GRCm39) |
D420G |
probably damaging |
Het |
Cideb |
C |
A |
14: 55,992,017 (GRCm39) |
R179L |
possibly damaging |
Het |
Cmtr1 |
G |
A |
17: 29,916,143 (GRCm39) |
R591H |
probably benign |
Het |
Dync1li2 |
A |
T |
8: 105,169,130 (GRCm39) |
S34T |
possibly damaging |
Het |
Eri2 |
A |
G |
7: 119,390,389 (GRCm39) |
Y80H |
probably damaging |
Het |
Fam135a |
A |
C |
1: 24,094,979 (GRCm39) |
L130V |
probably damaging |
Het |
Fancb |
A |
T |
X: 163,774,594 (GRCm39) |
K410N |
probably damaging |
Het |
Gabpb2 |
A |
C |
3: 95,107,502 (GRCm39) |
V191G |
probably damaging |
Het |
Gfm1 |
A |
G |
3: 67,345,893 (GRCm39) |
H197R |
possibly damaging |
Het |
Gm11595 |
A |
G |
11: 99,663,365 (GRCm39) |
V105A |
unknown |
Het |
Hectd3 |
T |
A |
4: 116,856,840 (GRCm39) |
D462E |
probably damaging |
Het |
Herc1 |
G |
T |
9: 66,315,334 (GRCm39) |
V1139L |
probably benign |
Het |
Itgal |
T |
C |
7: 126,901,183 (GRCm39) |
F190L |
probably damaging |
Het |
Krt87 |
G |
A |
15: 101,336,327 (GRCm39) |
H109Y |
probably benign |
Het |
Lmf2 |
T |
C |
15: 89,238,771 (GRCm39) |
Y115C |
probably benign |
Het |
Papolg |
T |
A |
11: 23,826,377 (GRCm39) |
Y259F |
possibly damaging |
Het |
Parn |
T |
C |
16: 13,485,467 (GRCm39) |
I10V |
probably benign |
Het |
Pdcd11 |
T |
A |
19: 47,102,989 (GRCm39) |
|
probably benign |
Het |
Phldb2 |
T |
A |
16: 45,583,465 (GRCm39) |
Q1003L |
possibly damaging |
Het |
Pigg |
T |
A |
5: 108,489,944 (GRCm39) |
F850I |
probably damaging |
Het |
Pkp4 |
T |
C |
2: 59,138,701 (GRCm39) |
L317P |
probably damaging |
Het |
Polr2a |
T |
C |
11: 69,634,620 (GRCm39) |
|
probably benign |
Het |
Prdm16 |
G |
A |
4: 154,426,426 (GRCm39) |
T453M |
possibly damaging |
Het |
Rnf144b |
A |
T |
13: 47,360,969 (GRCm39) |
E36D |
possibly damaging |
Het |
Ryr2 |
G |
A |
13: 11,750,388 (GRCm39) |
T1961I |
probably damaging |
Het |
Sash1 |
T |
A |
10: 8,627,177 (GRCm39) |
K305I |
probably damaging |
Het |
Tbc1d7 |
A |
T |
13: 43,312,797 (GRCm39) |
I32N |
probably damaging |
Het |
Thop1 |
T |
C |
10: 80,917,529 (GRCm39) |
F623L |
probably damaging |
Het |
Thsd7b |
G |
A |
1: 129,541,016 (GRCm39) |
G297R |
probably damaging |
Het |
Tln1 |
C |
A |
4: 43,551,297 (GRCm39) |
|
probably benign |
Het |
Vmn1r183 |
A |
G |
7: 23,754,649 (GRCm39) |
N151D |
probably damaging |
Het |
|
Other mutations in Eya2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02368:Eya2
|
APN |
2 |
165,605,638 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02465:Eya2
|
APN |
2 |
165,557,872 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL02523:Eya2
|
APN |
2 |
165,596,356 (GRCm39) |
splice site |
probably benign |
|
Needle
|
UTSW |
2 |
165,605,736 (GRCm39) |
missense |
probably damaging |
1.00 |
R0048:Eya2
|
UTSW |
2 |
165,557,931 (GRCm39) |
missense |
probably damaging |
1.00 |
R0167:Eya2
|
UTSW |
2 |
165,558,032 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0479:Eya2
|
UTSW |
2 |
165,557,876 (GRCm39) |
nonsense |
probably null |
|
R0600:Eya2
|
UTSW |
2 |
165,611,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R0909:Eya2
|
UTSW |
2 |
165,596,413 (GRCm39) |
missense |
probably benign |
0.28 |
R1251:Eya2
|
UTSW |
2 |
165,596,404 (GRCm39) |
missense |
probably damaging |
1.00 |
R1332:Eya2
|
UTSW |
2 |
165,529,528 (GRCm39) |
splice site |
probably benign |
|
R1725:Eya2
|
UTSW |
2 |
165,566,605 (GRCm39) |
missense |
probably benign |
|
R1729:Eya2
|
UTSW |
2 |
165,529,583 (GRCm39) |
missense |
probably damaging |
1.00 |
R1730:Eya2
|
UTSW |
2 |
165,529,583 (GRCm39) |
missense |
probably damaging |
1.00 |
R1739:Eya2
|
UTSW |
2 |
165,529,583 (GRCm39) |
missense |
probably damaging |
1.00 |
R1765:Eya2
|
UTSW |
2 |
165,566,723 (GRCm39) |
missense |
probably damaging |
0.99 |
R1879:Eya2
|
UTSW |
2 |
165,506,726 (GRCm39) |
missense |
probably benign |
|
R1969:Eya2
|
UTSW |
2 |
165,558,039 (GRCm39) |
missense |
probably benign |
0.00 |
R2430:Eya2
|
UTSW |
2 |
165,558,050 (GRCm39) |
critical splice donor site |
probably null |
|
R4285:Eya2
|
UTSW |
2 |
165,566,700 (GRCm39) |
missense |
probably benign |
0.01 |
R5137:Eya2
|
UTSW |
2 |
165,573,548 (GRCm39) |
missense |
probably damaging |
1.00 |
R5574:Eya2
|
UTSW |
2 |
165,605,736 (GRCm39) |
missense |
probably damaging |
1.00 |
R5739:Eya2
|
UTSW |
2 |
165,603,857 (GRCm39) |
missense |
probably damaging |
1.00 |
R5943:Eya2
|
UTSW |
2 |
165,566,609 (GRCm39) |
missense |
probably damaging |
0.99 |
R6259:Eya2
|
UTSW |
2 |
165,558,019 (GRCm39) |
missense |
probably benign |
0.00 |
R6477:Eya2
|
UTSW |
2 |
165,605,681 (GRCm39) |
missense |
probably benign |
|
R6736:Eya2
|
UTSW |
2 |
165,557,957 (GRCm39) |
missense |
possibly damaging |
0.80 |
R7347:Eya2
|
UTSW |
2 |
165,529,586 (GRCm39) |
missense |
probably benign |
0.00 |
R7524:Eya2
|
UTSW |
2 |
165,611,246 (GRCm39) |
critical splice donor site |
probably null |
|
R7563:Eya2
|
UTSW |
2 |
165,558,050 (GRCm39) |
critical splice donor site |
probably null |
|
R7612:Eya2
|
UTSW |
2 |
165,529,657 (GRCm39) |
critical splice donor site |
probably null |
|
R8420:Eya2
|
UTSW |
2 |
165,608,988 (GRCm39) |
missense |
probably damaging |
1.00 |
R9140:Eya2
|
UTSW |
2 |
165,608,977 (GRCm39) |
missense |
probably damaging |
1.00 |
R9279:Eya2
|
UTSW |
2 |
165,529,631 (GRCm39) |
missense |
probably benign |
0.19 |
Z1177:Eya2
|
UTSW |
2 |
165,527,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-04-17 |