Incidental Mutation 'IGL02368:Eya2'
ID |
290803 |
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 # |
IGL02368
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
165436952-165613647 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 165605638 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 347
(D347E)
|
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: D347E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000066244 Gene: ENSMUSG00000017897 AA Change: D347E
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: D347E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000085455 Gene: ENSMUSG00000017897 AA Change: D347E
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: ENSMUST00000128696
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930546C10Rik |
A |
G |
18: 69,083,060 (GRCm39) |
|
probably benign |
Het |
Abca17 |
C |
A |
17: 24,506,767 (GRCm39) |
V1196L |
probably benign |
Het |
Aldh4a1 |
G |
A |
4: 139,375,511 (GRCm39) |
W540* |
probably null |
Het |
Antxr2 |
G |
A |
5: 98,097,057 (GRCm39) |
P352L |
probably damaging |
Het |
Atic |
C |
T |
1: 71,603,724 (GRCm39) |
|
probably benign |
Het |
Cfhr1 |
A |
G |
1: 139,475,551 (GRCm39) |
|
probably benign |
Het |
Clspn |
T |
C |
4: 126,459,900 (GRCm39) |
S207P |
probably benign |
Het |
Depdc1b |
A |
C |
13: 108,500,113 (GRCm39) |
T209P |
probably benign |
Het |
Exosc3 |
A |
G |
4: 45,319,671 (GRCm39) |
I117T |
probably damaging |
Het |
Gm10748 |
G |
T |
3: 5,280,061 (GRCm39) |
|
probably benign |
Het |
Gm17079 |
T |
C |
14: 51,930,524 (GRCm39) |
N107S |
possibly damaging |
Het |
Gpr68 |
A |
G |
12: 100,845,026 (GRCm39) |
F173L |
probably damaging |
Het |
Hgf |
G |
T |
5: 16,769,792 (GRCm39) |
V89F |
possibly damaging |
Het |
Igsf10 |
A |
T |
3: 59,235,652 (GRCm39) |
S1510T |
probably benign |
Het |
Il4 |
A |
T |
11: 53,503,463 (GRCm39) |
N22K |
probably damaging |
Het |
Izumo2 |
T |
G |
7: 44,358,261 (GRCm39) |
L32R |
probably damaging |
Het |
Mark2 |
A |
G |
19: 7,261,855 (GRCm39) |
L359P |
probably damaging |
Het |
Myo15b |
A |
G |
11: 115,767,828 (GRCm39) |
K1376R |
probably benign |
Het |
Ncam1 |
G |
A |
9: 49,454,383 (GRCm39) |
R543* |
probably null |
Het |
Pax2 |
A |
G |
19: 44,823,848 (GRCm39) |
N347S |
possibly damaging |
Het |
Ppargc1a |
A |
G |
5: 51,631,498 (GRCm39) |
L377P |
probably benign |
Het |
Pum3 |
A |
G |
19: 27,403,357 (GRCm39) |
V48A |
probably benign |
Het |
Rad1 |
T |
C |
15: 10,493,337 (GRCm39) |
Y255H |
probably benign |
Het |
Rimbp2 |
C |
T |
5: 128,865,218 (GRCm39) |
|
probably null |
Het |
Rpn2 |
A |
G |
2: 157,144,328 (GRCm39) |
N330S |
probably benign |
Het |
Rptn |
A |
G |
3: 93,304,478 (GRCm39) |
S604G |
probably benign |
Het |
Rragc |
A |
G |
4: 123,814,904 (GRCm39) |
D200G |
probably benign |
Het |
Slco4a1 |
T |
G |
2: 180,114,921 (GRCm39) |
F615V |
probably damaging |
Het |
Snx2 |
T |
C |
18: 53,322,793 (GRCm39) |
S59P |
probably benign |
Het |
Timp4 |
A |
T |
6: 115,223,360 (GRCm39) |
|
probably null |
Het |
Tln2 |
A |
G |
9: 67,148,092 (GRCm39) |
|
probably benign |
Het |
Txnrd1 |
C |
A |
10: 82,731,808 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Eya2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00987:Eya2
|
APN |
2 |
165,596,401 (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 |
2015-04-16 |