Incidental Mutation 'R9279:Eya2'
| ID |
703489 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eya2
|
| Ensembl Gene |
ENSMUSG00000017897 |
| Gene Name |
EYA transcriptional coactivator and phosphatase 2 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.830)
|
| Stock # |
R9279 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
165436952-165613647 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 165529631 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 125
(S125G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066244
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063433]
[ENSMUST00000088132]
|
| AlphaFold |
O08575 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063433
AA Change: S125G
PolyPhen 2
Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000066244
Gene: ENSMUSG00000017897
AA Change: S125G
| 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: S125G
PolyPhen 2
Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000085455
Gene: ENSMUSG00000017897
AA Change: S125G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (50/50) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr7a5 |
A |
T |
4: 139,044,079 (GRCm39) |
H225L |
possibly damaging |
Het |
| Arhgap32 |
C |
A |
9: 32,168,655 (GRCm39) |
H879Q |
probably benign |
Het |
| Axin2 |
A |
G |
11: 108,833,128 (GRCm39) |
I438V |
possibly damaging |
Het |
| Btbd18 |
T |
A |
2: 84,491,920 (GRCm39) |
C34S |
probably damaging |
Het |
| Carns1 |
G |
T |
19: 4,216,256 (GRCm39) |
T642N |
possibly damaging |
Het |
| Casp8 |
T |
C |
1: 58,883,542 (GRCm39) |
I283T |
probably benign |
Het |
| Ccdc136 |
T |
A |
6: 29,421,982 (GRCm39) |
|
probably benign |
Het |
| Ccnk |
C |
A |
12: 108,161,946 (GRCm39) |
Q284K |
unknown |
Het |
| Ceacam12 |
T |
A |
7: 17,801,177 (GRCm39) |
L52H |
probably damaging |
Het |
| Cit |
G |
A |
5: 116,065,970 (GRCm39) |
D540N |
probably damaging |
Het |
| Cntnap1 |
T |
C |
11: 101,072,121 (GRCm39) |
V458A |
probably damaging |
Het |
| Col6a5 |
T |
A |
9: 105,758,976 (GRCm39) |
I2077F |
probably damaging |
Het |
| Dnah2 |
T |
C |
11: 69,409,104 (GRCm39) |
K425E |
probably benign |
Het |
| Gabrg1 |
T |
G |
5: 70,934,599 (GRCm39) |
M260L |
probably benign |
Het |
| Greb1 |
T |
C |
12: 16,732,153 (GRCm39) |
S1603G |
probably damaging |
Het |
| Isx |
A |
G |
8: 75,600,434 (GRCm39) |
T56A |
probably benign |
Het |
| Kif2b |
A |
T |
11: 91,467,975 (GRCm39) |
S103T |
probably benign |
Het |
| Krtap26-1 |
T |
C |
16: 88,444,342 (GRCm39) |
H93R |
probably benign |
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Mdm4 |
G |
A |
1: 132,924,416 (GRCm39) |
T236M |
probably damaging |
Het |
| Mgat5 |
T |
A |
1: 127,325,348 (GRCm39) |
L405Q |
probably damaging |
Het |
| Msantd1 |
A |
G |
5: 35,080,885 (GRCm39) |
I272V |
probably benign |
Het |
| Ocstamp |
A |
G |
2: 165,237,768 (GRCm39) |
*499Q |
probably null |
Het |
| Or11h6 |
A |
G |
14: 50,880,493 (GRCm39) |
K252E |
possibly damaging |
Het |
| Or1e16 |
G |
A |
11: 73,279,789 (GRCm39) |
P21L |
probably benign |
Het |
| Or2n1d |
G |
A |
17: 38,646,414 (GRCm39) |
R122Q |
probably damaging |
Het |
| Or4c100 |
A |
G |
2: 88,356,211 (GRCm39) |
M95V |
probably benign |
Het |
| Or5b12 |
A |
T |
19: 12,897,309 (GRCm39) |
Y121* |
probably null |
Het |
| Pcdh15 |
T |
A |
10: 74,461,756 (GRCm39) |
|
probably benign |
Het |
| Pkdrej |
C |
T |
15: 85,700,834 (GRCm39) |
G1701S |
probably damaging |
Het |
| Ppp1r9a |
A |
G |
6: 5,113,757 (GRCm39) |
T754A |
probably damaging |
Het |
| Prss8 |
C |
A |
7: 127,527,082 (GRCm39) |
Q55H |
probably damaging |
Het |
| Psg20 |
G |
T |
7: 18,416,670 (GRCm39) |
R149S |
probably benign |
Het |
| Ptprz1 |
T |
G |
6: 23,002,444 (GRCm39) |
N1511K |
probably benign |
Het |
| Rbbp8nl |
C |
T |
2: 179,920,894 (GRCm39) |
|
probably null |
Het |
| Sgk2 |
A |
G |
2: 162,854,975 (GRCm39) |
D362G |
probably benign |
Het |
| Sim1 |
T |
C |
10: 50,859,796 (GRCm39) |
Y553H |
probably damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,208,896 (GRCm39) |
D504G |
probably damaging |
Het |
| Smad7 |
T |
C |
18: 75,502,547 (GRCm39) |
V174A |
possibly damaging |
Het |
| Smarcc1 |
T |
A |
9: 109,996,792 (GRCm39) |
N303K |
possibly damaging |
Het |
| Snai3 |
T |
C |
8: 123,183,038 (GRCm39) |
H169R |
possibly damaging |
Het |
| Tecpr2 |
T |
A |
12: 110,895,505 (GRCm39) |
S331T |
possibly damaging |
Het |
| Tenm2 |
G |
A |
11: 35,959,303 (GRCm39) |
T1082I |
probably benign |
Het |
| Tle4 |
A |
T |
19: 14,429,890 (GRCm39) |
I627N |
probably damaging |
Het |
| Tnxb |
A |
T |
17: 34,898,088 (GRCm39) |
N912I |
possibly damaging |
Het |
| Ube2q2l |
A |
G |
6: 136,377,978 (GRCm39) |
V284A |
probably damaging |
Het |
| Vmn1r238 |
A |
T |
18: 3,122,994 (GRCm39) |
V140E |
probably damaging |
Het |
| Vmn1r65 |
G |
A |
7: 6,011,988 (GRCm39) |
T82I |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,572,290 (GRCm39) |
K969R |
probably damaging |
Het |
| Zfp943 |
A |
G |
17: 22,209,832 (GRCm39) |
R35G |
possibly 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 |
|
|
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 |
|
Z1177:Eya2
|
UTSW |
2 |
165,527,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACTGTTTTGACTCAATGGCTC -3'
(R):5'- CTGCTGGCATGTATATCCTCTG -3'
Sequencing Primer
(F):5'- GACTCAATGGCTCTTGTGCGC -3'
(R):5'- ACAGGGCCATGGGATTTTCC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation