Incidental Mutation 'R8928:Epha8'
ID |
692956 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Epha8
|
Ensembl Gene |
ENSMUSG00000028661 |
Gene Name |
Eph receptor A8 |
Synonyms |
Eek, Hek3, EphA8 |
MMRRC Submission |
068772-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8928 (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: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (57/57) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahctf1 |
C |
A |
1: 179,596,626 (GRCm39) |
S1056I |
possibly damaging |
Het |
Ajm1 |
A |
G |
2: 25,468,577 (GRCm39) |
Y445H |
possibly damaging |
Het |
Akap13 |
T |
A |
7: 75,259,606 (GRCm39) |
D743E |
probably benign |
Het |
Alas1 |
T |
A |
9: 106,118,513 (GRCm39) |
H203L |
probably benign |
Het |
Ankfn1 |
G |
A |
11: 89,429,279 (GRCm39) |
T35I |
possibly damaging |
Het |
Ankrd11 |
C |
T |
8: 123,622,718 (GRCm39) |
R378K |
probably damaging |
Het |
Arap1 |
G |
A |
7: 101,057,324 (GRCm39) |
R1355Q |
possibly damaging |
Het |
Cabp7 |
T |
A |
11: 4,696,640 (GRCm39) |
I30F |
possibly damaging |
Het |
Ccdc113 |
T |
C |
8: 96,267,584 (GRCm39) |
|
probably null |
Het |
Ccdc162 |
T |
A |
10: 41,462,245 (GRCm39) |
|
probably benign |
Het |
Cdh1 |
ACTCGAAATGATGTGGCTC |
ACTC |
8: 107,392,870 (GRCm39) |
|
probably benign |
Het |
Cep85 |
G |
T |
4: 133,859,715 (GRCm39) |
H651Q |
probably benign |
Het |
Cfap43 |
T |
A |
19: 47,804,399 (GRCm39) |
I266L |
probably benign |
Het |
Crybg3 |
T |
C |
16: 59,315,123 (GRCm39) |
T1179A |
probably benign |
Het |
Crybg3 |
A |
G |
16: 59,376,715 (GRCm39) |
V1513A |
probably benign |
Het |
Csmd2 |
G |
T |
4: 128,369,582 (GRCm39) |
V1905L |
|
Het |
D630003M21Rik |
T |
C |
2: 158,059,447 (GRCm39) |
E151G |
probably damaging |
Het |
Dnah10 |
A |
T |
5: 124,866,828 (GRCm39) |
Y2306F |
probably damaging |
Het |
Dpy19l4 |
A |
T |
4: 11,304,674 (GRCm39) |
|
probably benign |
Het |
Dsc1 |
G |
T |
18: 20,243,225 (GRCm39) |
T76K |
probably benign |
Het |
Egfem1 |
A |
C |
3: 29,744,561 (GRCm39) |
*591C |
probably null |
Het |
Elapor2 |
T |
A |
5: 9,496,979 (GRCm39) |
H814Q |
possibly damaging |
Het |
Fn1 |
T |
C |
1: 71,641,777 (GRCm39) |
|
probably benign |
Het |
Fsd2 |
T |
C |
7: 81,209,354 (GRCm39) |
T163A |
probably benign |
Het |
Gm45844 |
A |
G |
7: 7,281,094 (GRCm39) |
|
probably benign |
Het |
Grid1 |
T |
A |
14: 35,302,723 (GRCm39) |
V996D |
probably benign |
Het |
Hepacam2 |
C |
A |
6: 3,467,623 (GRCm39) |
|
probably null |
Het |
Hira |
A |
G |
16: 18,716,537 (GRCm39) |
T101A |
probably benign |
Het |
Ighv8-9 |
T |
A |
12: 115,432,204 (GRCm39) |
T36S |
possibly damaging |
Het |
Lama5 |
A |
T |
2: 179,843,832 (GRCm39) |
C413S |
probably damaging |
Het |
Lpcat2b |
G |
T |
5: 107,580,913 (GRCm39) |
V81L |
probably benign |
Het |
Map1b |
C |
G |
13: 99,568,624 (GRCm39) |
E1366Q |
unknown |
Het |
Marchf4 |
C |
A |
1: 72,574,035 (GRCm39) |
A88S |
probably benign |
Het |
Mbnl2 |
A |
G |
14: 120,633,974 (GRCm39) |
T324A |
probably benign |
Het |
Mipol1 |
T |
A |
12: 57,507,651 (GRCm39) |
M387K |
probably benign |
Het |
Mtor |
T |
C |
4: 148,623,356 (GRCm39) |
S2069P |
probably damaging |
Het |
Mycbp2 |
T |
A |
14: 103,393,781 (GRCm39) |
T2927S |
probably benign |
Het |
Nfatc1 |
A |
T |
18: 80,741,180 (GRCm39) |
N273K |
possibly damaging |
Het |
Or10p22 |
T |
C |
10: 128,826,317 (GRCm39) |
C179R |
probably damaging |
Het |
Or2i1 |
T |
A |
17: 37,507,861 (GRCm39) |
T258S |
probably damaging |
Het |
Or5k15 |
T |
A |
16: 58,709,750 (GRCm39) |
T278S |
possibly damaging |
Het |
Or5v1 |
A |
T |
17: 37,809,583 (GRCm39) |
I14F |
probably damaging |
Het |
Or7a36 |
A |
G |
10: 78,820,547 (GRCm39) |
K308E |
|
Het |
Or8b49 |
A |
T |
9: 38,505,662 (GRCm39) |
L48F |
probably damaging |
Het |
Parp16 |
A |
G |
9: 65,133,396 (GRCm39) |
D79G |
probably benign |
Het |
Ppp4r3b |
T |
C |
11: 29,144,598 (GRCm39) |
V316A |
probably benign |
Het |
Ptcd2 |
G |
A |
13: 99,476,505 (GRCm39) |
T78I |
probably damaging |
Het |
Rbpjl |
A |
G |
2: 164,250,313 (GRCm39) |
Y155C |
probably damaging |
Het |
Slc5a7 |
G |
T |
17: 54,591,258 (GRCm39) |
Q225K |
possibly damaging |
Het |
Stom |
T |
C |
2: 35,205,937 (GRCm39) |
N264S |
probably damaging |
Het |
Tbc1d2b |
C |
T |
9: 90,108,190 (GRCm39) |
E454K |
probably damaging |
Het |
Tmem209 |
C |
T |
6: 30,489,365 (GRCm39) |
C495Y |
probably damaging |
Het |
Tnn |
T |
C |
1: 159,953,099 (GRCm39) |
D647G |
probably damaging |
Het |
Vmn2r44 |
A |
T |
7: 8,381,101 (GRCm39) |
V264E |
probably damaging |
Het |
Wscd2 |
A |
T |
5: 113,715,401 (GRCm39) |
I414F |
possibly damaging |
Het |
Xkr5 |
A |
G |
8: 18,983,787 (GRCm39) |
V585A |
probably benign |
Het |
Zfp456 |
G |
A |
13: 67,514,603 (GRCm39) |
R368C |
probably benign |
Het |
Zscan18 |
G |
A |
7: 12,509,120 (GRCm39) |
Q127* |
probably null |
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 |
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'- ACAACTGATGACTGCCTCTG -3'
(R):5'- TCACCTACAACGCAGTGTGC -3'
Sequencing Primer
(F):5'- CAGACTGAGTTCTGCTTTCCTATAGG -3'
(R):5'- AGTGGAACTCGCTTCGT -3'
|
Posted On |
2022-01-20 |