Incidental Mutation 'IGL02523:Eya2'
ID |
296970 |
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 # |
IGL02523
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
165436952-165613647 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to T
at 165596356 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000085455
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063433]
[ENSMUST00000088132]
|
AlphaFold |
O08575 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000063433
|
SMART Domains |
Protein: ENSMUSP00000066244 Gene: ENSMUSG00000017897
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 benign
Transcript: ENSMUST00000088132
|
SMART Domains |
Protein: ENSMUSP00000085455 Gene: ENSMUSG00000017897
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asah1 |
T |
C |
8: 41,804,984 (GRCm39) |
D109G |
probably benign |
Het |
Ces2c |
C |
A |
8: 105,574,746 (GRCm39) |
P68T |
probably damaging |
Het |
Csl |
G |
A |
10: 99,594,675 (GRCm39) |
T130I |
probably benign |
Het |
Cyp2g1 |
C |
T |
7: 26,518,612 (GRCm39) |
R376W |
probably damaging |
Het |
Ddb1 |
T |
C |
19: 10,604,996 (GRCm39) |
L1029P |
probably damaging |
Het |
Dennd4c |
T |
C |
4: 86,692,490 (GRCm39) |
|
probably benign |
Het |
Fars2 |
G |
T |
13: 36,388,676 (GRCm39) |
G55V |
probably damaging |
Het |
Fcgbp |
C |
A |
7: 27,804,157 (GRCm39) |
A1755E |
possibly damaging |
Het |
Ggt7 |
T |
A |
2: 155,356,623 (GRCm39) |
E32V |
probably damaging |
Het |
Heg1 |
C |
A |
16: 33,558,992 (GRCm39) |
T1071K |
probably damaging |
Het |
Hpca |
A |
G |
4: 129,012,368 (GRCm39) |
F56S |
probably damaging |
Het |
Hyal4 |
T |
A |
6: 24,765,968 (GRCm39) |
Y441N |
probably damaging |
Het |
Igsf8 |
T |
A |
1: 172,146,980 (GRCm39) |
|
probably benign |
Het |
Ints13 |
A |
G |
6: 146,459,109 (GRCm39) |
S301P |
probably benign |
Het |
Krt33a |
G |
A |
11: 99,902,518 (GRCm39) |
T374I |
probably benign |
Het |
Nav3 |
T |
C |
10: 109,605,157 (GRCm39) |
D972G |
probably damaging |
Het |
Npc1 |
T |
C |
18: 12,334,629 (GRCm39) |
T708A |
probably benign |
Het |
Or10ag52 |
A |
T |
2: 87,043,664 (GRCm39) |
N143Y |
probably benign |
Het |
Or13p10 |
A |
T |
4: 118,523,238 (GRCm39) |
N175Y |
probably benign |
Het |
Or1l8 |
T |
C |
2: 36,817,967 (GRCm39) |
D53G |
probably damaging |
Het |
Or6d14 |
A |
T |
6: 116,534,054 (GRCm39) |
I223L |
probably benign |
Het |
P2rx2 |
A |
G |
5: 110,489,908 (GRCm39) |
S87P |
probably damaging |
Het |
Pdxdc1 |
A |
T |
16: 13,699,799 (GRCm39) |
L62H |
probably damaging |
Het |
Plekhj1 |
A |
T |
10: 80,633,683 (GRCm39) |
|
probably null |
Het |
Ptbp2 |
A |
T |
3: 119,534,136 (GRCm39) |
Y244* |
probably null |
Het |
Ralbp1 |
T |
C |
17: 66,166,086 (GRCm39) |
E366G |
probably damaging |
Het |
Rergl |
T |
A |
6: 139,473,458 (GRCm39) |
|
probably benign |
Het |
Slc25a45 |
T |
A |
19: 5,934,637 (GRCm39) |
|
probably null |
Het |
Spop |
G |
A |
11: 95,376,747 (GRCm39) |
D267N |
possibly damaging |
Het |
Tars2 |
T |
C |
3: 95,648,705 (GRCm39) |
D625G |
probably damaging |
Het |
Tlk2 |
A |
G |
11: 105,166,773 (GRCm39) |
K593R |
probably damaging |
Het |
Tlr3 |
T |
A |
8: 45,851,428 (GRCm39) |
|
probably null |
Het |
Tmem205 |
C |
T |
9: 21,832,584 (GRCm39) |
R109H |
probably benign |
Het |
Tmem41b |
A |
G |
7: 109,581,935 (GRCm39) |
I56T |
probably damaging |
Het |
Ube2q2 |
T |
C |
9: 55,099,163 (GRCm39) |
V168A |
probably damaging |
Het |
Ufsp2 |
T |
A |
8: 46,436,585 (GRCm39) |
M112K |
probably damaging |
Het |
Wipi2 |
T |
A |
5: 142,646,787 (GRCm39) |
V208E |
probably damaging |
Het |
Xkr9 |
A |
G |
1: 13,754,474 (GRCm39) |
E156G |
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 |
IGL02465:Eya2
|
APN |
2 |
165,557,872 (GRCm39) |
missense |
possibly damaging |
0.89 |
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 |