Incidental Mutation 'R2291:Epha8'
ID |
244337 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Epha8
|
Ensembl Gene |
ENSMUSG00000028661 |
Gene Name |
Eph receptor A8 |
Synonyms |
Eek, Hek3, EphA8 |
MMRRC Submission |
040290-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2291 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
136656730-136684127 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 136660658 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 687
(M687V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030420
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030420]
|
AlphaFold |
O09127 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030420
AA Change: M687V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000030420 Gene: ENSMUSG00000028661 AA Change: M687V
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
|
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700006A11Rik |
A |
T |
3: 124,207,450 (GRCm39) |
I247N |
probably damaging |
Het |
Afdn |
A |
G |
17: 14,109,153 (GRCm39) |
K1559E |
probably damaging |
Het |
Ankhd1 |
C |
T |
18: 36,777,386 (GRCm39) |
T1523I |
probably benign |
Het |
Apc |
T |
A |
18: 34,445,544 (GRCm39) |
N795K |
probably benign |
Het |
Arhgap26 |
G |
T |
18: 39,490,751 (GRCm39) |
|
probably benign |
Het |
Atm |
C |
T |
9: 53,402,209 (GRCm39) |
|
probably null |
Het |
Atp1a4 |
T |
C |
1: 172,072,473 (GRCm39) |
N394D |
probably damaging |
Het |
Brinp3 |
T |
A |
1: 146,776,812 (GRCm39) |
S420T |
possibly damaging |
Het |
Cacna1d |
G |
T |
14: 29,764,299 (GRCm39) |
R2078S |
probably damaging |
Het |
Cacna1e |
T |
C |
1: 154,279,429 (GRCm39) |
D1720G |
probably damaging |
Het |
Camk2a |
T |
A |
18: 61,097,031 (GRCm39) |
V38E |
probably damaging |
Het |
Camk4 |
G |
A |
18: 33,240,996 (GRCm39) |
|
probably null |
Het |
Ccr7 |
G |
A |
11: 99,036,161 (GRCm39) |
R254C |
probably damaging |
Het |
Celf5 |
C |
T |
10: 81,302,881 (GRCm39) |
G267D |
probably damaging |
Het |
Cfap65 |
G |
A |
1: 74,965,634 (GRCm39) |
P459S |
probably damaging |
Het |
Chd1l |
T |
C |
3: 97,498,599 (GRCm39) |
K267E |
probably damaging |
Het |
Chl1 |
T |
A |
6: 103,692,354 (GRCm39) |
Y331N |
probably damaging |
Het |
Cltc |
G |
A |
11: 86,624,448 (GRCm39) |
T158I |
probably benign |
Het |
Col16a1 |
T |
A |
4: 129,960,833 (GRCm39) |
D430E |
unknown |
Het |
Cspg4 |
T |
C |
9: 56,800,027 (GRCm39) |
V1597A |
probably damaging |
Het |
Cstf2t |
T |
A |
19: 31,062,264 (GRCm39) |
L600H |
probably benign |
Het |
Cyp27b1 |
T |
C |
10: 126,884,163 (GRCm39) |
V5A |
possibly damaging |
Het |
Depdc5 |
C |
A |
5: 33,136,746 (GRCm39) |
Q1339K |
probably damaging |
Het |
Diaph3 |
G |
T |
14: 87,203,882 (GRCm39) |
P592Q |
probably damaging |
Het |
Dync2i1 |
A |
T |
12: 116,193,191 (GRCm39) |
|
probably null |
Het |
Fhod1 |
T |
A |
8: 106,063,596 (GRCm39) |
|
probably benign |
Het |
Gls2 |
C |
A |
10: 128,043,479 (GRCm39) |
S73* |
probably null |
Het |
Gm3604 |
T |
A |
13: 62,519,657 (GRCm39) |
M33L |
probably damaging |
Het |
Gpr39 |
A |
G |
1: 125,605,278 (GRCm39) |
T69A |
probably benign |
Het |
Hal |
T |
C |
10: 93,339,398 (GRCm39) |
F496L |
probably damaging |
Het |
Hipk1 |
T |
C |
3: 103,668,926 (GRCm39) |
E490G |
probably damaging |
Het |
Ints7 |
T |
G |
1: 191,338,315 (GRCm39) |
|
probably null |
Het |
Itpr3 |
A |
G |
17: 27,332,553 (GRCm39) |
E1799G |
possibly damaging |
Het |
Kif11 |
T |
A |
19: 37,395,451 (GRCm39) |
M570K |
probably benign |
Het |
Kif18b |
G |
T |
11: 102,799,096 (GRCm39) |
Q702K |
probably damaging |
Het |
Kif19a |
A |
G |
11: 114,681,019 (GRCm39) |
T247A |
probably damaging |
Het |
Lama3 |
A |
G |
18: 12,658,136 (GRCm39) |
E360G |
probably damaging |
Het |
Loxl3 |
G |
T |
6: 83,014,469 (GRCm39) |
A126S |
probably benign |
Het |
Mc5r |
C |
T |
18: 68,472,435 (GRCm39) |
R265W |
probably damaging |
Het |
Mpl |
A |
G |
4: 118,306,197 (GRCm39) |
V340A |
probably benign |
Het |
Mrpl13 |
G |
T |
15: 55,411,615 (GRCm39) |
H56Q |
probably damaging |
Het |
Msr1 |
T |
C |
8: 40,077,263 (GRCm39) |
T116A |
probably benign |
Het |
N4bp3 |
T |
C |
11: 51,536,930 (GRCm39) |
K48E |
probably damaging |
Het |
Naaladl1 |
A |
G |
19: 6,156,225 (GRCm39) |
T104A |
probably benign |
Het |
Neu1 |
C |
T |
17: 35,151,742 (GRCm39) |
R179W |
probably damaging |
Het |
Or10d5 |
T |
C |
9: 39,861,630 (GRCm39) |
T146A |
probably benign |
Het |
Or8k21 |
A |
T |
2: 86,145,524 (GRCm39) |
Y35* |
probably null |
Het |
Osbp |
G |
T |
19: 11,951,198 (GRCm39) |
E248* |
probably null |
Het |
Otx1 |
T |
A |
11: 21,946,634 (GRCm39) |
|
probably benign |
Het |
Parp4 |
A |
T |
14: 56,851,274 (GRCm39) |
Q759L |
probably damaging |
Het |
Pax6 |
A |
C |
2: 105,516,228 (GRCm39) |
S169R |
probably benign |
Het |
Pigg |
T |
G |
5: 108,480,783 (GRCm39) |
I389M |
probably damaging |
Het |
Pla2g4a |
C |
A |
1: 149,776,940 (GRCm39) |
V59F |
probably damaging |
Het |
Plcb4 |
A |
T |
2: 135,781,903 (GRCm39) |
Q241H |
probably benign |
Het |
Plpp6 |
A |
G |
19: 28,941,720 (GRCm39) |
D107G |
probably damaging |
Het |
Ppp6r2 |
T |
A |
15: 89,159,690 (GRCm39) |
L459Q |
probably damaging |
Het |
Prss55 |
A |
T |
14: 64,313,171 (GRCm39) |
W238R |
probably damaging |
Het |
Rgl1 |
C |
T |
1: 152,412,032 (GRCm39) |
E446K |
probably damaging |
Het |
Ric3 |
C |
T |
7: 108,638,090 (GRCm39) |
G221D |
probably damaging |
Het |
Rnf167 |
T |
C |
11: 70,540,129 (GRCm39) |
F83S |
probably damaging |
Het |
Ryr1 |
C |
T |
7: 28,798,202 (GRCm39) |
V947M |
probably damaging |
Het |
Scn1a |
A |
G |
2: 66,119,312 (GRCm39) |
L1397P |
probably benign |
Het |
Sh3bp1 |
T |
A |
15: 78,802,519 (GRCm39) |
V251E |
possibly damaging |
Het |
Slc25a10 |
A |
T |
11: 120,387,900 (GRCm39) |
I198L |
probably benign |
Het |
Smoc2 |
A |
T |
17: 14,589,233 (GRCm39) |
N234I |
possibly damaging |
Het |
Spdl1 |
T |
A |
11: 34,710,136 (GRCm39) |
K382* |
probably null |
Het |
Ssrp1 |
G |
A |
2: 84,872,660 (GRCm39) |
|
probably null |
Het |
Tril |
G |
T |
6: 53,795,012 (GRCm39) |
R737S |
probably damaging |
Het |
Triqk |
T |
A |
4: 12,974,817 (GRCm39) |
|
probably null |
Het |
Ttc19 |
T |
C |
11: 62,174,519 (GRCm39) |
Y128H |
probably damaging |
Het |
Vmn1r15 |
T |
C |
6: 57,235,677 (GRCm39) |
S182P |
possibly damaging |
Het |
Vmn1r226 |
A |
G |
17: 20,908,475 (GRCm39) |
I236V |
probably damaging |
Het |
Vmn2r120 |
A |
C |
17: 57,816,479 (GRCm39) |
N625K |
probably damaging |
Het |
Vmn2r78 |
T |
C |
7: 86,569,362 (GRCm39) |
I85T |
probably damaging |
Het |
Whamm |
C |
T |
7: 81,241,519 (GRCm39) |
R277* |
probably null |
Het |
Wnt7a |
C |
T |
6: 91,371,468 (GRCm39) |
V165I |
probably benign |
Het |
Zbtb40 |
A |
T |
4: 136,712,328 (GRCm39) |
Y1127N |
possibly damaging |
Het |
Zfyve1 |
A |
T |
12: 83,594,705 (GRCm39) |
H762Q |
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 |
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 |
R8983: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'- AGGATCATCTAGGGACCTGAG -3'
(R):5'- ATGGGAGCATACTGGAGCAC -3'
Sequencing Primer
(F):5'- TCATCTAGGGACCTGAGACATAGTG -3'
(R):5'- AGCATACTGGAGCACCTGGTG -3'
|
Posted On |
2014-10-30 |