Incidental Mutation 'R7612:Eya2'
| ID |
588652 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eya2
|
| Ensembl Gene |
ENSMUSG00000017897 |
| Gene Name |
EYA transcriptional coactivator and phosphatase 2 |
| Synonyms |
|
| MMRRC Submission |
045680-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.753)
|
| Stock # |
R7612 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
165436952-165613647 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 165529657 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066244
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063433]
[ENSMUST00000088132]
|
| AlphaFold |
O08575 |
| Predicted Effect |
probably null
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 null
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (51/51) |
| 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 |
|---|
| 2310057N15Rik |
A |
T |
16: 88,570,496 (GRCm39) |
Y181* |
probably null |
Het |
| Adgrf2 |
T |
G |
17: 43,025,271 (GRCm39) |
K71T |
possibly damaging |
Het |
| Brca2 |
T |
A |
5: 150,464,076 (GRCm39) |
M1280K |
probably benign |
Het |
| Card14 |
T |
C |
11: 119,224,405 (GRCm39) |
S541P |
possibly damaging |
Het |
| Cd19 |
G |
T |
7: 126,013,496 (GRCm39) |
Q98K |
possibly damaging |
Het |
| Ceacam5 |
T |
A |
7: 17,493,341 (GRCm39) |
I788N |
possibly damaging |
Het |
| Cpne2 |
A |
T |
8: 95,284,048 (GRCm39) |
I290L |
probably benign |
Het |
| Cpsf1 |
C |
T |
15: 76,481,209 (GRCm39) |
V1216I |
probably benign |
Het |
| Csad |
G |
A |
15: 102,097,357 (GRCm39) |
|
probably benign |
Het |
| Depdc7 |
T |
A |
2: 104,560,853 (GRCm39) |
Q47L |
probably benign |
Het |
| Dnajc6 |
T |
A |
4: 101,455,123 (GRCm39) |
S105T |
probably benign |
Het |
| Dsg4 |
C |
A |
18: 20,604,047 (GRCm39) |
P838Q |
probably damaging |
Het |
| Efcab3 |
T |
A |
11: 104,999,647 (GRCm39) |
Y179N |
possibly damaging |
Het |
| Egfr |
A |
T |
11: 16,809,025 (GRCm39) |
N73I |
possibly damaging |
Het |
| Fubp1 |
A |
G |
3: 151,923,652 (GRCm39) |
Q123R |
possibly damaging |
Het |
| Galns |
A |
G |
8: 123,311,693 (GRCm39) |
I439T |
possibly damaging |
Het |
| Gm57858 |
A |
T |
3: 36,079,506 (GRCm39) |
S261R |
possibly damaging |
Het |
| Gsdmd |
T |
G |
15: 75,736,803 (GRCm39) |
L140R |
probably damaging |
Het |
| Hcrtr1 |
A |
G |
4: 130,029,478 (GRCm39) |
V201A |
possibly damaging |
Het |
| Ildr2 |
T |
A |
1: 166,135,361 (GRCm39) |
M371K |
probably benign |
Het |
| Kalrn |
G |
A |
16: 34,134,582 (GRCm39) |
T412I |
possibly damaging |
Het |
| Kdm5b |
C |
T |
1: 134,552,656 (GRCm39) |
Q1211* |
probably null |
Het |
| Loxhd1 |
T |
C |
18: 77,517,671 (GRCm39) |
S1840P |
possibly damaging |
Het |
| Maml2 |
A |
G |
9: 13,617,781 (GRCm39) |
M376V |
probably benign |
Het |
| Mgat4e |
T |
C |
1: 134,469,745 (GRCm39) |
T100A |
probably damaging |
Het |
| Myo18b |
T |
A |
5: 113,013,168 (GRCm39) |
T812S |
possibly damaging |
Het |
| Nanp |
T |
A |
2: 150,881,158 (GRCm39) |
E30V |
probably null |
Het |
| Or2w1b |
G |
T |
13: 21,300,217 (GRCm39) |
M118I |
probably damaging |
Het |
| Or4c107 |
T |
G |
2: 88,788,849 (GRCm39) |
L13R |
probably damaging |
Het |
| Or5ac21 |
A |
T |
16: 59,123,990 (GRCm39) |
H158L |
probably damaging |
Het |
| Parp3 |
T |
A |
9: 106,351,393 (GRCm39) |
N241I |
probably benign |
Het |
| Piezo2 |
T |
C |
18: 63,175,610 (GRCm39) |
N1924D |
probably benign |
Het |
| Pou1f1 |
A |
G |
16: 65,326,811 (GRCm39) |
N137S |
probably damaging |
Het |
| Ptgdr |
A |
G |
14: 45,096,094 (GRCm39) |
M206T |
probably damaging |
Het |
| Ptprd |
T |
C |
4: 76,004,696 (GRCm39) |
T20A |
probably benign |
Het |
| Rexo1 |
G |
C |
10: 80,385,497 (GRCm39) |
S520R |
probably benign |
Het |
| Sgip1 |
T |
A |
4: 102,727,005 (GRCm39) |
S94T |
probably benign |
Het |
| Slc35e3 |
A |
G |
10: 117,576,785 (GRCm39) |
V182A |
probably benign |
Het |
| Slfn2 |
A |
G |
11: 82,961,089 (GRCm39) |
E356G |
probably damaging |
Het |
| Spry4 |
C |
A |
18: 38,722,982 (GRCm39) |
K260N |
probably damaging |
Het |
| Sync |
A |
T |
4: 129,187,375 (GRCm39) |
M136L |
probably benign |
Het |
| Tm7sf2 |
A |
G |
19: 6,120,638 (GRCm39) |
V425A |
probably benign |
Het |
| Trim21 |
T |
A |
7: 102,208,742 (GRCm39) |
M326L |
probably benign |
Het |
| Trim62 |
A |
G |
4: 128,790,677 (GRCm39) |
Q158R |
probably benign |
Het |
| Tubgcp2 |
T |
A |
7: 139,580,964 (GRCm39) |
K663M |
probably damaging |
Het |
| Uggt1 |
T |
C |
1: 36,202,316 (GRCm39) |
I1094V |
probably damaging |
Het |
| Urb1 |
A |
G |
16: 90,594,798 (GRCm39) |
S245P |
probably damaging |
Het |
| Vwa3a |
A |
T |
7: 120,351,838 (GRCm39) |
D34V |
probably null |
Het |
| Zbtb45 |
C |
T |
7: 12,741,326 (GRCm39) |
A311T |
possibly damaging |
Het |
| Zfp655 |
T |
C |
5: 145,173,999 (GRCm39) |
S135P |
unknown |
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 |
|
|
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'- AATGGCTCTTGTGCGCATGG -3'
(R):5'- GACTACCTGGTTATCTGCTGGC -3'
Sequencing Primer
(F):5'- CATGGCAGGGAAGTGTTCTAACC -3'
(R):5'- GGTTATCTGCTGGCATGTATATCCTC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation