Incidental Mutation 'R8420:Eya2'
| ID |
653132 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eya2
|
| Ensembl Gene |
ENSMUSG00000017897 |
| Gene Name |
EYA transcriptional coactivator and phosphatase 2 |
| Synonyms |
|
| MMRRC Submission |
067773-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.830)
|
| Stock # |
R8420 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
165436952-165613647 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 165608988 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 443
(T443A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066244
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063433]
[ENSMUST00000088132]
|
| AlphaFold |
O08575 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063433
AA Change: T443A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000066244
Gene: ENSMUSG00000017897
AA Change: T443A
| 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: T443A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000085455
Gene: ENSMUSG00000017897
AA Change: T443A
| 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: 99.7%
- 20x: 99.0%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
A |
G |
11: 119,937,746 (GRCm39) |
S11P |
unknown |
Het |
| Adrb2 |
T |
C |
18: 62,312,004 (GRCm39) |
T274A |
probably damaging |
Het |
| Aph1b |
A |
G |
9: 66,701,503 (GRCm39) |
S45P |
probably damaging |
Het |
| Atp9b |
A |
T |
18: 80,887,806 (GRCm39) |
D321E |
|
Het |
| C1qbp |
A |
G |
11: 70,869,543 (GRCm39) |
V180A |
possibly damaging |
Het |
| C4b |
G |
T |
17: 34,953,513 (GRCm39) |
A990D |
probably damaging |
Het |
| Ccdc80 |
T |
A |
16: 44,915,612 (GRCm39) |
S123T |
possibly damaging |
Het |
| Cdh18 |
A |
C |
15: 23,474,138 (GRCm39) |
E669D |
possibly damaging |
Het |
| Ceacam3 |
T |
A |
7: 16,895,608 (GRCm39) |
V526D |
|
Het |
| Cenpf |
C |
T |
1: 189,404,782 (GRCm39) |
C349Y |
probably damaging |
Het |
| Dmrt2 |
T |
C |
19: 25,655,379 (GRCm39) |
V326A |
probably damaging |
Het |
| Dock9 |
T |
C |
14: 121,783,454 (GRCm39) |
Q2023R |
probably damaging |
Het |
| Exd2 |
A |
G |
12: 80,522,771 (GRCm39) |
R77G |
probably benign |
Het |
| Exph5 |
A |
T |
9: 53,287,148 (GRCm39) |
K1410* |
probably null |
Het |
| Fam135a |
G |
A |
1: 24,067,569 (GRCm39) |
T1100M |
probably benign |
Het |
| Foxp2 |
G |
T |
6: 15,403,866 (GRCm39) |
R381L |
unknown |
Het |
| Grm7 |
T |
G |
6: 111,057,315 (GRCm39) |
V305G |
probably benign |
Het |
| Gzma |
G |
A |
13: 113,237,464 (GRCm39) |
R8W |
probably benign |
Het |
| H6pd |
T |
C |
4: 150,066,133 (GRCm39) |
E759G |
probably benign |
Het |
| Ift27 |
A |
G |
15: 78,048,391 (GRCm39) |
V154A |
probably benign |
Het |
| Kif1a |
A |
T |
1: 92,950,141 (GRCm39) |
S1429T |
probably benign |
Het |
| Lrrn1 |
T |
A |
6: 107,546,294 (GRCm39) |
D697E |
probably benign |
Het |
| Mcrs1 |
A |
T |
15: 99,141,575 (GRCm39) |
I387N |
probably damaging |
Het |
| Muc16 |
T |
C |
9: 18,448,807 (GRCm39) |
T7675A |
probably damaging |
Het |
| Naf1 |
GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC |
GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC |
8: 67,313,200 (GRCm39) |
|
probably benign |
Het |
| Nid1 |
C |
A |
13: 13,612,416 (GRCm39) |
L44I |
possibly damaging |
Het |
| Or2f2 |
A |
T |
6: 42,767,644 (GRCm39) |
T224S |
possibly damaging |
Het |
| Or4m1 |
T |
C |
14: 50,558,233 (GRCm39) |
T20A |
probably benign |
Het |
| Or5h27 |
A |
G |
16: 59,006,117 (GRCm39) |
I243T |
unknown |
Het |
| Or8k1 |
T |
A |
2: 86,047,457 (GRCm39) |
E199V |
probably damaging |
Het |
| Pde11a |
C |
T |
2: 75,889,354 (GRCm39) |
D707N |
probably damaging |
Het |
| Pigf |
A |
T |
17: 87,327,910 (GRCm39) |
L119* |
probably null |
Het |
| Pkd1l1 |
A |
T |
11: 8,820,277 (GRCm39) |
C1679* |
probably null |
Het |
| Prnp |
A |
G |
2: 131,778,669 (GRCm39) |
N107S |
probably benign |
Het |
| Ptgfr |
C |
T |
3: 151,541,053 (GRCm39) |
V152M |
possibly damaging |
Het |
| Rap2b |
A |
G |
3: 61,271,805 (GRCm39) |
|
probably benign |
Het |
| Rtn4 |
A |
G |
11: 29,657,300 (GRCm39) |
T485A |
probably damaging |
Het |
| Sec23b |
A |
G |
2: 144,401,234 (GRCm39) |
T32A |
probably benign |
Het |
| Skint5 |
A |
T |
4: 113,437,679 (GRCm39) |
|
probably null |
Het |
| Slc13a5 |
A |
G |
11: 72,148,210 (GRCm39) |
L275P |
probably damaging |
Het |
| Slc20a1 |
C |
T |
2: 129,041,784 (GRCm39) |
A49V |
probably damaging |
Het |
| Slc35g2 |
A |
G |
9: 100,435,224 (GRCm39) |
I149T |
probably benign |
Het |
| Syk |
T |
A |
13: 52,778,763 (GRCm39) |
I283K |
probably benign |
Het |
| Taf7l2 |
T |
C |
10: 115,948,440 (GRCm39) |
Y362C |
probably benign |
Het |
| Tnfsf13b |
G |
A |
8: 10,056,795 (GRCm39) |
|
probably benign |
Het |
| Ubr1 |
A |
G |
2: 120,701,476 (GRCm39) |
V1592A |
probably benign |
Het |
| Vopp1 |
T |
C |
6: 57,739,379 (GRCm39) |
*123W |
probably null |
Het |
| Xpo4 |
T |
A |
14: 57,841,913 (GRCm39) |
Q467H |
probably damaging |
Het |
| Zdhhc22 |
A |
C |
12: 87,035,143 (GRCm39) |
V103G |
possibly damaging |
Het |
| Zfp868 |
A |
G |
8: 70,064,160 (GRCm39) |
S392P |
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 |
|
|
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 |
|
|
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'- CAGAAGCAGCTACAGTGTCC -3'
(R):5'- AGAGTAGTCAGGACTGGTGC -3'
Sequencing Primer
(F):5'- AGCTACAGTGTCCCCGGAC -3'
(R):5'- CAGGACTGGTGCTTCCTGTAC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation