Incidental Mutation 'R8983:Epha8'
| ID |
683814 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epha8
|
| Ensembl Gene |
ENSMUSG00000028661 |
| Gene Name |
Eph receptor A8 |
| Synonyms |
Eek, Hek3, EphA8 |
| MMRRC Submission |
068816-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8983 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
136656730-136684127 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 136665897 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Methionine
at position 420
(L420M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030420
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030420]
|
| AlphaFold |
O09127 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030420
AA Change: L420M
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000030420
Gene: ENSMUSG00000028661
AA Change: L420M
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
EPH_lbd
|
30 |
203 |
2.59e-116 |
SMART |
|
FN3
|
328 |
418 |
4.03e-6 |
SMART |
|
FN3
|
439 |
520 |
1.67e-12 |
SMART |
|
Pfam:EphA2_TM
|
542 |
631 |
5.8e-10 |
PFAM |
|
TyrKc
|
634 |
891 |
1.03e-125 |
SMART |
|
SAM
|
926 |
993 |
4.74e-19 |
SMART |
|
| Meta Mutation Damage Score |
0.1158 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| Validation Efficiency |
100% (61/61) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. The protein encoded by this gene functions as a receptor for ephrin A2, A3 and A5 and plays a role in short-range contact-mediated axonal guidance during development of the mammalian nervous system. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for this targeted mutation are viable, fertile, and grossly normal but exhibit a commissural defect, whereby tectal axons fail to project from the superior colliculus of the midbrain to the contralateral inferior colliculus and instead project to the ipsilateral cervical spinal cord. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
A |
T |
2: 151,313,272 (GRCm39) |
F632I |
unknown |
Het |
| 5730522E02Rik |
T |
C |
11: 25,719,069 (GRCm39) |
T26A |
unknown |
Het |
| Ablim1 |
A |
T |
19: 57,227,644 (GRCm39) |
V7E |
probably benign |
Het |
| Adcy5 |
T |
G |
16: 34,977,232 (GRCm39) |
L255R |
possibly damaging |
Het |
| Ahnak |
C |
A |
19: 8,981,477 (GRCm39) |
N920K |
possibly damaging |
Het |
| Arhgef11 |
A |
G |
3: 87,640,508 (GRCm39) |
K1251E |
|
Het |
| Astn1 |
T |
A |
1: 158,491,700 (GRCm39) |
|
probably null |
Het |
| Atxn2 |
A |
G |
5: 121,916,063 (GRCm39) |
Y423C |
probably damaging |
Het |
| Ccdc180 |
T |
A |
4: 45,909,359 (GRCm39) |
V509D |
possibly damaging |
Het |
| Ccdc80 |
T |
C |
16: 44,924,780 (GRCm39) |
V638A |
possibly damaging |
Het |
| Ccr6 |
T |
G |
17: 8,474,878 (GRCm39) |
C28G |
probably damaging |
Het |
| Cdca7l |
A |
G |
12: 117,828,902 (GRCm39) |
|
probably benign |
Het |
| Cnot3 |
T |
C |
7: 3,654,328 (GRCm39) |
I52T |
probably damaging |
Het |
| Cped1 |
A |
T |
6: 22,138,686 (GRCm39) |
N555I |
probably benign |
Het |
| Cpne6 |
A |
T |
14: 55,753,711 (GRCm39) |
I390F |
probably damaging |
Het |
| Dlec1 |
A |
G |
9: 118,957,419 (GRCm39) |
D836G |
probably benign |
Het |
| Dnah8 |
T |
A |
17: 31,070,628 (GRCm39) |
V4438D |
probably damaging |
Het |
| Dok3 |
G |
T |
13: 55,671,535 (GRCm39) |
N345K |
probably damaging |
Het |
| Eea1 |
C |
T |
10: 95,855,741 (GRCm39) |
Q593* |
probably null |
Het |
| Eif3m |
T |
C |
2: 104,830,139 (GRCm39) |
Y351C |
possibly damaging |
Het |
| Epn3 |
T |
C |
11: 94,386,914 (GRCm39) |
E152G |
probably damaging |
Het |
| Faf2 |
A |
G |
13: 54,769,726 (GRCm39) |
S25G |
probably benign |
Het |
| Fam83b |
A |
G |
9: 76,400,357 (GRCm39) |
S249P |
probably damaging |
Het |
| Fgl1 |
A |
T |
8: 41,653,496 (GRCm39) |
S132R |
probably benign |
Het |
| Frem3 |
A |
G |
8: 81,395,875 (GRCm39) |
E1890G |
probably damaging |
Het |
| Gpc5 |
T |
A |
14: 115,330,118 (GRCm39) |
S94T |
unknown |
Het |
| Hectd1 |
A |
G |
12: 51,791,410 (GRCm39) |
V2584A |
probably damaging |
Het |
| Kifc3 |
G |
A |
8: 95,833,104 (GRCm39) |
A498V |
probably damaging |
Het |
| Klra6 |
T |
C |
6: 129,999,573 (GRCm39) |
T132A |
probably benign |
Het |
| Loricrin |
T |
C |
3: 91,988,446 (GRCm39) |
Y280C |
unknown |
Het |
| Lpin2 |
C |
T |
17: 71,553,962 (GRCm39) |
A931V |
unknown |
Het |
| Lpxn |
A |
G |
19: 12,810,522 (GRCm39) |
H322R |
probably damaging |
Het |
| Megf9 |
A |
G |
4: 70,353,634 (GRCm39) |
S391P |
probably benign |
Het |
| Mipep |
G |
A |
14: 61,080,702 (GRCm39) |
V565I |
probably benign |
Het |
| Mmrn1 |
C |
T |
6: 60,953,042 (GRCm39) |
T441I |
probably benign |
Het |
| Mrpl48 |
T |
C |
7: 100,223,702 (GRCm39) |
N14S |
probably benign |
Het |
| Ncald |
A |
G |
15: 37,397,512 (GRCm39) |
F56S |
probably damaging |
Het |
| Or9g3 |
T |
C |
2: 85,584,251 (GRCm39) |
|
probably benign |
Het |
| Pals1 |
G |
A |
12: 78,884,298 (GRCm39) |
D640N |
probably damaging |
Het |
| Plcd3 |
A |
G |
11: 102,962,092 (GRCm39) |
V703A |
possibly damaging |
Het |
| Potefam1 |
A |
G |
2: 111,030,701 (GRCm39) |
S403P |
probably benign |
Het |
| Prss59 |
A |
G |
6: 40,897,934 (GRCm39) |
S250P |
possibly damaging |
Het |
| Qser1 |
T |
C |
2: 104,617,702 (GRCm39) |
I947V |
probably benign |
Het |
| Rdx |
G |
A |
9: 51,974,905 (GRCm39) |
A14T |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,321,175 (GRCm39) |
D1211G |
|
Het |
| Sbpl |
T |
C |
17: 24,172,253 (GRCm39) |
D222G |
unknown |
Het |
| Scn8a |
C |
A |
15: 100,900,030 (GRCm39) |
T703K |
possibly damaging |
Het |
| Setbp1 |
A |
G |
18: 78,902,459 (GRCm39) |
S403P |
probably benign |
Het |
| Sfmbt2 |
A |
G |
2: 10,409,267 (GRCm39) |
S71G |
probably damaging |
Het |
| Slc35f3 |
CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
8: 127,115,775 (GRCm39) |
|
probably benign |
Het |
| Smco3 |
C |
T |
6: 136,808,730 (GRCm39) |
G48D |
possibly damaging |
Het |
| Spag9 |
T |
C |
11: 93,958,815 (GRCm39) |
S280P |
probably benign |
Het |
| Thada |
T |
C |
17: 84,538,515 (GRCm39) |
T1498A |
probably benign |
Het |
| Tmprss7 |
T |
C |
16: 45,481,263 (GRCm39) |
D641G |
probably damaging |
Het |
| Top6bl |
T |
C |
19: 4,695,714 (GRCm39) |
I513V |
possibly damaging |
Het |
| Trim43a |
A |
G |
9: 88,464,404 (GRCm39) |
D105G |
probably benign |
Het |
| Utp14b |
T |
A |
1: 78,643,003 (GRCm39) |
N300K |
probably benign |
Het |
| Vmn2r83 |
T |
G |
10: 79,327,360 (GRCm39) |
I656S |
probably damaging |
Het |
| Zfp646 |
A |
T |
7: 127,480,777 (GRCm39) |
M985L |
probably benign |
Het |
| Zfp777 |
A |
T |
6: 48,006,158 (GRCm39) |
L412Q |
probably damaging |
Het |
|
| Other mutations in Epha8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00946:Epha8
|
APN |
4 |
136,673,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00960:Epha8
|
APN |
4 |
136,679,150 (GRCm39) |
splice site |
probably null |
|
|
IGL01124:Epha8
|
APN |
4 |
136,663,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01550:Epha8
|
APN |
4 |
136,659,051 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL01807:Epha8
|
APN |
4 |
136,658,993 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01844:Epha8
|
APN |
4 |
136,658,360 (GRCm39) |
makesense |
probably null |
|
|
IGL02167:Epha8
|
APN |
4 |
136,658,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0255:Epha8
|
UTSW |
4 |
136,667,597 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0445:Epha8
|
UTSW |
4 |
136,659,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1757:Epha8
|
UTSW |
4 |
136,658,789 (GRCm39) |
splice site |
probably null |
|
|
R1911:Epha8
|
UTSW |
4 |
136,663,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1936:Epha8
|
UTSW |
4 |
136,667,554 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2291:Epha8
|
UTSW |
4 |
136,660,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2359:Epha8
|
UTSW |
4 |
136,673,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2372:Epha8
|
UTSW |
4 |
136,660,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4581:Epha8
|
UTSW |
4 |
136,660,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4747:Epha8
|
UTSW |
4 |
136,666,006 (GRCm39) |
frame shift |
probably null |
|
|
R4784:Epha8
|
UTSW |
4 |
136,660,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5156:Epha8
|
UTSW |
4 |
136,666,037 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5164:Epha8
|
UTSW |
4 |
136,672,983 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5335:Epha8
|
UTSW |
4 |
136,659,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5480:Epha8
|
UTSW |
4 |
136,662,441 (GRCm39) |
missense |
probably benign |
|
|
R5552:Epha8
|
UTSW |
4 |
136,659,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5830:Epha8
|
UTSW |
4 |
136,663,701 (GRCm39) |
nonsense |
probably null |
|
|
R6017:Epha8
|
UTSW |
4 |
136,659,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6450:Epha8
|
UTSW |
4 |
136,659,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6798:Epha8
|
UTSW |
4 |
136,672,980 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6799:Epha8
|
UTSW |
4 |
136,672,980 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7060:Epha8
|
UTSW |
4 |
136,658,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7297:Epha8
|
UTSW |
4 |
136,673,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7344:Epha8
|
UTSW |
4 |
136,661,849 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7467:Epha8
|
UTSW |
4 |
136,658,399 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7563:Epha8
|
UTSW |
4 |
136,666,100 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7826:Epha8
|
UTSW |
4 |
136,663,498 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7845:Epha8
|
UTSW |
4 |
136,663,712 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7863:Epha8
|
UTSW |
4 |
136,660,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7904:Epha8
|
UTSW |
4 |
136,659,050 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7918:Epha8
|
UTSW |
4 |
136,661,877 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8177:Epha8
|
UTSW |
4 |
136,672,974 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8244:Epha8
|
UTSW |
4 |
136,665,897 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8266:Epha8
|
UTSW |
4 |
136,665,897 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8268:Epha8
|
UTSW |
4 |
136,665,897 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8269:Epha8
|
UTSW |
4 |
136,665,897 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8289:Epha8
|
UTSW |
4 |
136,665,897 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8290:Epha8
|
UTSW |
4 |
136,665,897 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8294:Epha8
|
UTSW |
4 |
136,665,897 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8295:Epha8
|
UTSW |
4 |
136,665,897 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8299:Epha8
|
UTSW |
4 |
136,665,897 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8445:Epha8
|
UTSW |
4 |
136,659,600 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8889:Epha8
|
UTSW |
4 |
136,661,850 (GRCm39) |
missense |
probably benign |
0.45 |
|
R8892:Epha8
|
UTSW |
4 |
136,661,850 (GRCm39) |
missense |
probably benign |
0.45 |
|
R8928:Epha8
|
UTSW |
4 |
136,665,897 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8965:Epha8
|
UTSW |
4 |
136,665,897 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8984:Epha8
|
UTSW |
4 |
136,665,897 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8988:Epha8
|
UTSW |
4 |
136,665,897 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9081:Epha8
|
UTSW |
4 |
136,665,897 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9231:Epha8
|
UTSW |
4 |
136,673,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9262:Epha8
|
UTSW |
4 |
136,658,995 (GRCm39) |
missense |
probably benign |
|
|
R9370:Epha8
|
UTSW |
4 |
136,673,511 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9466:Epha8
|
UTSW |
4 |
136,662,414 (GRCm39) |
missense |
probably benign |
|
|
R9478:Epha8
|
UTSW |
4 |
136,665,897 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9546:Epha8
|
UTSW |
4 |
136,665,897 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9547:Epha8
|
UTSW |
4 |
136,665,897 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9550:Epha8
|
UTSW |
4 |
136,665,897 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9585:Epha8
|
UTSW |
4 |
136,665,897 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9624:Epha8
|
UTSW |
4 |
136,659,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9686:Epha8
|
UTSW |
4 |
136,665,897 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9687:Epha8
|
UTSW |
4 |
136,665,897 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9690:Epha8
|
UTSW |
4 |
136,665,897 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9744:Epha8
|
UTSW |
4 |
136,665,897 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9763:Epha8
|
UTSW |
4 |
136,665,897 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9794:Epha8
|
UTSW |
4 |
136,666,035 (GRCm39) |
missense |
probably benign |
0.16 |
|
RF025:Epha8
|
UTSW |
4 |
136,660,348 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
RF054:Epha8
|
UTSW |
4 |
136,660,348 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
Z1176:Epha8
|
UTSW |
4 |
136,666,007 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGATGACTGCCTCTGTGTTC -3'
(R):5'- CATCACCTACAACGCAGTGTG -3'
Sequencing Primer
(F):5'- CAGACTGAGTTCTGCTTTCCTATAGG -3'
(R):5'- CAACGCAGTGTGCCGCC -3'
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| Posted On |
2021-10-11 |
Incidental Mutation