Incidental Mutation 'R1251:Eya2'
| ID |
151742 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eya2
|
| Ensembl Gene |
ENSMUSG00000017897 |
| Gene Name |
EYA transcriptional coactivator and phosphatase 2 |
| Synonyms |
|
| MMRRC Submission |
039318-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.789)
|
| Stock # |
R1251 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
165595032-165771727 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 165754484 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 305
(M305K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085455
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063433]
[ENSMUST00000088132]
|
| AlphaFold |
O08575 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063433
AA Change: M305K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000066244
Gene: ENSMUSG00000017897
AA Change: M305K
| 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 damaging
Transcript: ENSMUST00000088132
AA Change: M305K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000085455
Gene: ENSMUSG00000017897
AA Change: M305K
| 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 |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
C |
T |
8: 123,962,052 (GRCm38) |
G495D |
probably damaging |
Het |
| Acap2 |
A |
T |
16: 31,108,171 (GRCm38) |
Y509N |
probably damaging |
Het |
| Adcy9 |
T |
A |
16: 4,311,531 (GRCm38) |
E497V |
probably damaging |
Het |
| Bcat2 |
T |
G |
7: 45,575,986 (GRCm38) |
L56R |
probably damaging |
Het |
| Ccdc146 |
T |
C |
5: 21,293,372 (GRCm38) |
M952V |
probably benign |
Het |
| Ccdc39 |
T |
C |
3: 33,826,480 (GRCm38) |
K446R |
probably damaging |
Het |
| Cfap46 |
C |
T |
7: 139,601,265 (GRCm38) |
V2607I |
probably benign |
Het |
| Clec18a |
T |
C |
8: 111,081,638 (GRCm38) |
I54V |
possibly damaging |
Het |
| Coil |
A |
G |
11: 88,982,299 (GRCm38) |
E455G |
possibly damaging |
Het |
| Copg1 |
A |
T |
6: 87,890,007 (GRCm38) |
K75* |
probably null |
Het |
| Cyp2j12 |
G |
A |
4: 96,115,666 (GRCm38) |
Q238* |
probably null |
Het |
| D17Wsu92e |
C |
T |
17: 27,786,070 (GRCm38) |
|
probably null |
Het |
| Eif3i |
T |
C |
4: 129,593,385 (GRCm38) |
E229G |
probably damaging |
Het |
| Exoc2 |
T |
A |
13: 30,886,276 (GRCm38) |
N411Y |
probably benign |
Het |
| Faim |
C |
T |
9: 98,992,634 (GRCm38) |
T78M |
probably damaging |
Het |
| Fgg |
T |
A |
3: 83,012,980 (GRCm38) |
D355E |
probably benign |
Het |
| Foxn1 |
A |
G |
11: 78,358,785 (GRCm38) |
L638P |
probably damaging |
Het |
| Grid2ip |
A |
T |
5: 143,386,015 (GRCm38) |
E664D |
possibly damaging |
Het |
| Il1rn |
A |
G |
2: 24,345,570 (GRCm38) |
R21G |
probably damaging |
Het |
| Inpp4b |
G |
A |
8: 81,890,753 (GRCm38) |
G220R |
probably benign |
Het |
| Irx6 |
A |
G |
8: 92,678,253 (GRCm38) |
S250G |
possibly damaging |
Het |
| Lyst |
T |
C |
13: 13,634,483 (GRCm38) |
I246T |
probably benign |
Het |
| Mcm3 |
G |
A |
1: 20,812,672 (GRCm38) |
Q353* |
probably null |
Het |
| Mfhas1 |
A |
G |
8: 35,591,053 (GRCm38) |
Y894C |
probably damaging |
Het |
| Mfsd13a |
T |
C |
19: 46,372,053 (GRCm38) |
L348P |
probably damaging |
Het |
| Necab1 |
A |
G |
4: 15,111,192 (GRCm38) |
|
probably null |
Het |
| Nectin3 |
A |
T |
16: 46,463,842 (GRCm38) |
S160T |
possibly damaging |
Het |
| Npc2 |
A |
G |
12: 84,760,884 (GRCm38) |
S67P |
probably damaging |
Het |
| Olfr1036 |
G |
A |
2: 86,074,820 (GRCm38) |
V27M |
probably benign |
Het |
| Olfr513 |
T |
G |
7: 108,754,907 (GRCm38) |
F17C |
probably damaging |
Het |
| Pcnx3 |
A |
G |
19: 5,677,182 (GRCm38) |
F1108L |
probably benign |
Het |
| Phf21a |
G |
A |
2: 92,359,199 (GRCm38) |
S601N |
probably benign |
Het |
| Pold1 |
C |
T |
7: 44,535,051 (GRCm38) |
V842I |
probably benign |
Het |
| Rabgap1 |
A |
G |
2: 37,543,234 (GRCm38) |
|
probably null |
Het |
| Setd1a |
T |
A |
7: 127,797,424 (GRCm38) |
|
probably benign |
Het |
| Sgo2a |
A |
T |
1: 57,999,962 (GRCm38) |
|
probably null |
Het |
| Sult2a8 |
T |
A |
7: 14,425,425 (GRCm38) |
K90* |
probably null |
Het |
| Tlr2 |
T |
C |
3: 83,838,269 (GRCm38) |
D169G |
possibly damaging |
Het |
| Tmem95 |
A |
G |
11: 69,876,829 (GRCm38) |
F153S |
probably benign |
Het |
| Tube1 |
G |
T |
10: 39,134,208 (GRCm38) |
G10* |
probably null |
Het |
| Vmn2r10 |
T |
C |
5: 108,996,024 (GRCm38) |
M687V |
probably benign |
Het |
| Zc3h8 |
G |
A |
2: 128,935,369 (GRCm38) |
P117S |
probably benign |
Het |
| Zeb1 |
T |
A |
18: 5,705,089 (GRCm38) |
D18E |
probably damaging |
Het |
|
| Other mutations in Eya2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00987:Eya2
|
APN |
2 |
165,754,481 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02368:Eya2
|
APN |
2 |
165,763,718 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02465:Eya2
|
APN |
2 |
165,715,952 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
IGL02523:Eya2
|
APN |
2 |
165,754,436 (GRCm38) |
splice site |
probably benign |
|
|
Needle
|
UTSW |
2 |
165,763,816 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0048:Eya2
|
UTSW |
2 |
165,716,011 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0167:Eya2
|
UTSW |
2 |
165,716,112 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R0479:Eya2
|
UTSW |
2 |
165,715,956 (GRCm38) |
nonsense |
probably null |
|
|
R0600:Eya2
|
UTSW |
2 |
165,769,237 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0909:Eya2
|
UTSW |
2 |
165,754,493 (GRCm38) |
missense |
probably benign |
0.28 |
|
R1332:Eya2
|
UTSW |
2 |
165,687,608 (GRCm38) |
splice site |
probably benign |
|
|
R1725:Eya2
|
UTSW |
2 |
165,724,685 (GRCm38) |
missense |
probably benign |
|
|
R1729:Eya2
|
UTSW |
2 |
165,687,663 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1730:Eya2
|
UTSW |
2 |
165,687,663 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1739:Eya2
|
UTSW |
2 |
165,687,663 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1765:Eya2
|
UTSW |
2 |
165,724,803 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1879:Eya2
|
UTSW |
2 |
165,664,806 (GRCm38) |
missense |
probably benign |
|
|
R1969:Eya2
|
UTSW |
2 |
165,716,119 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2430:Eya2
|
UTSW |
2 |
165,716,130 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4285:Eya2
|
UTSW |
2 |
165,724,780 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5137:Eya2
|
UTSW |
2 |
165,731,628 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5574:Eya2
|
UTSW |
2 |
165,763,816 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5739:Eya2
|
UTSW |
2 |
165,761,937 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5943:Eya2
|
UTSW |
2 |
165,724,689 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6259:Eya2
|
UTSW |
2 |
165,716,099 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6477:Eya2
|
UTSW |
2 |
165,763,761 (GRCm38) |
missense |
probably benign |
|
|
R6736:Eya2
|
UTSW |
2 |
165,716,037 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R7347:Eya2
|
UTSW |
2 |
165,687,666 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7524:Eya2
|
UTSW |
2 |
165,769,326 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7563:Eya2
|
UTSW |
2 |
165,716,130 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7612:Eya2
|
UTSW |
2 |
165,687,737 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8420:Eya2
|
UTSW |
2 |
165,767,068 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9140:Eya2
|
UTSW |
2 |
165,767,057 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9279:Eya2
|
UTSW |
2 |
165,687,711 (GRCm38) |
missense |
probably benign |
0.19 |
|
Z1177:Eya2
|
UTSW |
2 |
165,685,593 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCACACAAGAGCTGAGAGCTATC -3'
(R):5'- CATTCCATGTGACTGGAGCAGAGAG -3'
Sequencing Primer
(F):5'- GTGCAGAAAACTGTCCCTTC -3'
(R):5'- GTAACCCCAGCAACTGTGAA -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation