Incidental Mutation 'R4285:Eya2'
| ID |
322011 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eya2
|
| Ensembl Gene |
ENSMUSG00000017897 |
| Gene Name |
EYA transcriptional coactivator and phosphatase 2 |
| Synonyms |
|
| MMRRC Submission |
041080-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.753)
|
| Stock # |
R4285 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
165436952-165613647 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 165566700 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 250
(N250K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085455
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063433]
[ENSMUST00000088132]
|
| AlphaFold |
O08575 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063433
AA Change: N250K
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000066244
Gene: ENSMUSG00000017897
AA Change: N250K
| 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
AA Change: N250K
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000085455
Gene: ENSMUSG00000017897
AA Change: N250K
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
98% (42/43) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
G |
A |
3: 116,545,827 (GRCm39) |
S1323L |
possibly damaging |
Het |
| Ahnak |
T |
A |
19: 8,994,203 (GRCm39) |
C5162* |
probably null |
Het |
| Carmil3 |
GGACGA |
GGA |
14: 55,736,933 (GRCm39) |
|
probably benign |
Het |
| Cfap73 |
T |
C |
5: 120,770,654 (GRCm39) |
K39E |
possibly damaging |
Het |
| Coq6 |
C |
T |
12: 84,417,178 (GRCm39) |
|
probably benign |
Het |
| Dlc1 |
C |
T |
8: 37,041,282 (GRCm39) |
E1316K |
possibly damaging |
Het |
| Dscam |
A |
G |
16: 96,510,309 (GRCm39) |
|
probably null |
Het |
| Fat4 |
A |
G |
3: 38,943,320 (GRCm39) |
I738V |
probably benign |
Het |
| Gria2 |
T |
G |
3: 80,614,969 (GRCm39) |
|
probably benign |
Het |
| Hnrnph3 |
A |
T |
10: 62,852,247 (GRCm39) |
D238E |
probably damaging |
Het |
| Il1rn |
T |
C |
2: 24,239,557 (GRCm39) |
L151P |
probably damaging |
Het |
| Kctd19 |
G |
A |
8: 106,109,581 (GRCm39) |
|
probably benign |
Het |
| Kdm1a |
T |
C |
4: 136,309,347 (GRCm39) |
|
probably null |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lamc1 |
C |
A |
1: 153,110,298 (GRCm39) |
G1126W |
probably damaging |
Het |
| Magi3 |
C |
A |
3: 103,923,184 (GRCm39) |
G1178* |
probably null |
Het |
| Man2a2 |
T |
C |
7: 80,018,367 (GRCm39) |
D141G |
probably damaging |
Het |
| Map2k1 |
C |
A |
9: 64,119,925 (GRCm39) |
V127L |
probably damaging |
Het |
| Memo1 |
T |
C |
17: 74,562,293 (GRCm39) |
|
probably null |
Het |
| Mxd3 |
A |
G |
13: 55,477,167 (GRCm39) |
S31P |
probably benign |
Het |
| Myo5b |
G |
A |
18: 74,847,920 (GRCm39) |
E1053K |
probably benign |
Het |
| Nup50l |
T |
C |
6: 96,142,733 (GRCm39) |
T104A |
probably benign |
Het |
| Or2m12 |
A |
C |
16: 19,104,714 (GRCm39) |
F260V |
probably damaging |
Het |
| Or51a5 |
G |
T |
7: 102,771,867 (GRCm39) |
Y37* |
probably null |
Het |
| Pex5l |
A |
G |
3: 33,061,336 (GRCm39) |
I171T |
probably damaging |
Het |
| Plag1 |
A |
G |
4: 3,905,654 (GRCm39) |
V12A |
probably benign |
Het |
| Podn |
C |
A |
4: 107,878,893 (GRCm39) |
V180L |
possibly damaging |
Het |
| Prox2 |
T |
A |
12: 85,141,698 (GRCm39) |
R168S |
probably benign |
Het |
| Prss29 |
A |
G |
17: 25,541,231 (GRCm39) |
Y225C |
probably damaging |
Het |
| Rassf2 |
G |
A |
2: 131,847,314 (GRCm39) |
T97I |
probably benign |
Het |
| Samm50 |
T |
C |
15: 84,081,213 (GRCm39) |
V47A |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slc20a2 |
G |
A |
8: 23,051,365 (GRCm39) |
R466Q |
probably benign |
Het |
| Slc25a51 |
C |
T |
4: 45,399,768 (GRCm39) |
V141M |
probably benign |
Het |
| St6galnac3 |
A |
C |
3: 152,912,360 (GRCm39) |
V161G |
probably benign |
Het |
| Unc5c |
T |
C |
3: 141,420,435 (GRCm39) |
I52T |
probably damaging |
Het |
| Vat1l |
A |
G |
8: 114,932,523 (GRCm39) |
E23G |
probably damaging |
Het |
| Vmn2r91 |
A |
G |
17: 18,356,030 (GRCm39) |
T566A |
probably benign |
Het |
| Wls |
A |
T |
3: 159,639,902 (GRCm39) |
H511L |
probably benign |
Het |
| Zfp644 |
G |
A |
5: 106,782,984 (GRCm39) |
T1130I |
probably damaging |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTGACCTCTGGGGCTCTTTAG -3'
(R):5'- TAGGTTTCTCCCAGAGCTCTG -3'
Sequencing Primer
(F):5'- ATAGGAATGGTGCGATATTTCCC -3'
(R):5'- CCAGAGCTCTGTCACTGGGTTG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation