Incidental Mutation 'IGL02465:Eya2'
ID |
294541 |
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: 0.753)
|
Stock # |
IGL02465
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
165436952-165613647 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 165557872 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 156
(D156G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000085455
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063433]
[ENSMUST00000088132]
|
AlphaFold |
O08575 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000063433
AA Change: D156G
PolyPhen 2
Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000066244 Gene: ENSMUSG00000017897 AA Change: D156G
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 |
possibly damaging
Transcript: ENSMUST00000088132
AA Change: D156G
PolyPhen 2
Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000085455 Gene: ENSMUSG00000017897 AA Change: D156G
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150669
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy3 |
A |
G |
12: 4,250,906 (GRCm39) |
D555G |
probably benign |
Het |
Anks1b |
T |
A |
10: 89,999,127 (GRCm39) |
C411* |
probably null |
Het |
Atp5pf |
A |
T |
16: 84,625,358 (GRCm39) |
Y82N |
probably damaging |
Het |
Cd19 |
A |
T |
7: 126,012,730 (GRCm39) |
V221D |
possibly damaging |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Cyp4f13 |
A |
T |
17: 33,148,110 (GRCm39) |
|
probably null |
Het |
Ddrgk1 |
T |
C |
2: 130,496,629 (GRCm39) |
D245G |
probably damaging |
Het |
Gm42763 |
T |
C |
9: 110,374,365 (GRCm39) |
|
probably benign |
Het |
Gtdc1 |
T |
C |
2: 44,460,435 (GRCm39) |
Y417C |
probably damaging |
Het |
Map1b |
T |
C |
13: 99,569,914 (GRCm39) |
T936A |
unknown |
Het |
Med23 |
G |
A |
10: 24,779,641 (GRCm39) |
R906K |
probably damaging |
Het |
Mill2 |
G |
A |
7: 18,592,168 (GRCm39) |
W263* |
probably null |
Het |
Mup20 |
T |
C |
4: 61,970,237 (GRCm39) |
N107D |
possibly damaging |
Het |
Neb |
A |
G |
2: 52,083,177 (GRCm39) |
|
probably benign |
Het |
Ntrk2 |
A |
G |
13: 59,208,194 (GRCm39) |
N680S |
probably damaging |
Het |
Or12d2 |
A |
C |
17: 37,624,802 (GRCm39) |
S158A |
probably damaging |
Het |
Or9a2 |
C |
T |
6: 41,748,490 (GRCm39) |
V248I |
probably damaging |
Het |
Pde3a |
A |
G |
6: 141,195,401 (GRCm39) |
H29R |
possibly damaging |
Het |
Pik3c3 |
T |
C |
18: 30,477,113 (GRCm39) |
I878T |
probably damaging |
Het |
Plxnd1 |
A |
G |
6: 115,932,703 (GRCm39) |
*1926R |
probably null |
Het |
Prl8a9 |
T |
A |
13: 27,743,432 (GRCm39) |
L124F |
probably damaging |
Het |
Proser3 |
A |
T |
7: 30,242,958 (GRCm39) |
N206K |
possibly damaging |
Het |
Rasef |
G |
T |
4: 73,652,725 (GRCm39) |
T439N |
probably damaging |
Het |
Slc6a18 |
T |
C |
13: 73,825,904 (GRCm39) |
T49A |
probably benign |
Het |
Spag17 |
A |
C |
3: 99,983,187 (GRCm39) |
T1496P |
probably damaging |
Het |
Vmn1r63 |
A |
C |
7: 5,806,038 (GRCm39) |
V198G |
probably damaging |
Het |
Vmn2r112 |
T |
C |
17: 22,833,975 (GRCm39) |
S548P |
probably damaging |
Het |
Vps13a |
T |
C |
19: 16,688,305 (GRCm39) |
D834G |
probably benign |
Het |
Vps8 |
A |
T |
16: 21,340,653 (GRCm39) |
N799I |
probably damaging |
Het |
Zfhx4 |
A |
G |
3: 5,464,663 (GRCm39) |
H1632R |
possibly damaging |
Het |
Zp1 |
T |
A |
19: 10,897,851 (GRCm39) |
E30V |
probably benign |
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 |
IGL02368:Eya2
|
APN |
2 |
165,605,638 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |