Incidental Mutation 'R9262:Epha8'
ID |
702302 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Epha8
|
Ensembl Gene |
ENSMUSG00000028661 |
Gene Name |
Eph receptor A8 |
Synonyms |
Eek, Hek3, EphA8 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9262 (G1)
|
Quality Score |
206.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
136656730-136684127 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 136658995 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 886
(H886Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030420
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030420]
|
AlphaFold |
O09127 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030420
AA Change: H886Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000030420 Gene: ENSMUSG00000028661 AA Change: H886Q
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 |
0.0846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
97% (73/75) |
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933409G03Rik |
A |
T |
2: 68,443,375 (GRCm39) |
H192L |
unknown |
Het |
Abca4 |
T |
A |
3: 121,964,639 (GRCm39) |
C2149S |
probably damaging |
Het |
Abl2 |
G |
A |
1: 156,469,820 (GRCm39) |
G1028D |
possibly damaging |
Het |
Adgre1 |
A |
G |
17: 57,754,941 (GRCm39) |
T680A |
probably damaging |
Het |
Amn |
G |
A |
12: 111,237,585 (GRCm39) |
W10* |
probably null |
Het |
Ankhd1 |
G |
T |
18: 36,765,799 (GRCm39) |
V140F |
|
Het |
Asnsd1 |
A |
T |
1: 53,383,934 (GRCm39) |
N613K |
probably benign |
Het |
Bbs2 |
A |
T |
8: 94,807,543 (GRCm39) |
I417N |
probably damaging |
Het |
Cad |
T |
A |
5: 31,225,009 (GRCm39) |
W971R |
probably null |
Het |
Cand2 |
A |
T |
6: 115,759,730 (GRCm39) |
I134F |
probably benign |
Het |
Ccdc154 |
C |
A |
17: 25,389,160 (GRCm39) |
H453N |
probably damaging |
Het |
Ccdc168 |
A |
G |
1: 44,096,269 (GRCm39) |
S1610P |
possibly damaging |
Het |
Ccdc7a |
T |
A |
8: 129,486,277 (GRCm39) |
H1601L |
possibly damaging |
Het |
Ccdc9 |
A |
C |
7: 16,012,400 (GRCm39) |
S261A |
probably benign |
Het |
Cdkl3 |
T |
A |
11: 51,916,702 (GRCm39) |
S277T |
probably benign |
Het |
Cipc |
T |
A |
12: 86,999,497 (GRCm39) |
Y8* |
probably null |
Het |
Cramp1 |
A |
G |
17: 25,232,920 (GRCm39) |
S27P |
probably damaging |
Het |
Csf1r |
A |
T |
18: 61,243,406 (GRCm39) |
M141L |
probably benign |
Het |
Csf2rb2 |
G |
T |
15: 78,168,535 (GRCm39) |
F873L |
probably damaging |
Het |
Dchs1 |
G |
A |
7: 105,404,833 (GRCm39) |
R2570W |
probably damaging |
Het |
Dmxl1 |
A |
T |
18: 49,976,919 (GRCm39) |
N94Y |
probably benign |
Het |
Dnajc10 |
A |
G |
2: 80,176,965 (GRCm39) |
K640R |
probably benign |
Het |
Fcgbp |
G |
C |
7: 27,819,952 (GRCm39) |
D2560H |
probably damaging |
Het |
Fry |
T |
G |
5: 150,305,109 (GRCm39) |
F605V |
probably damaging |
Het |
Fsip2 |
A |
G |
2: 82,807,662 (GRCm39) |
N1327S |
probably benign |
Het |
Gm12117 |
T |
C |
11: 33,226,001 (GRCm39) |
T112A |
probably benign |
Het |
Gm3604 |
A |
T |
13: 62,517,697 (GRCm39) |
N220K |
probably damaging |
Het |
Gm572 |
T |
C |
4: 148,735,652 (GRCm39) |
V27A |
probably benign |
Het |
Gpr39 |
A |
G |
1: 125,800,524 (GRCm39) |
K425R |
probably benign |
Het |
Heatr3 |
A |
G |
8: 88,883,097 (GRCm39) |
D349G |
probably benign |
Het |
Hip1 |
A |
G |
5: 135,478,541 (GRCm39) |
S248P |
probably damaging |
Het |
Itga11 |
A |
G |
9: 62,659,678 (GRCm39) |
|
probably benign |
Het |
Itga3 |
C |
T |
11: 94,956,625 (GRCm39) |
V210I |
probably benign |
Het |
Jmjd1c |
T |
C |
10: 67,083,793 (GRCm39) |
I2173T |
probably benign |
Het |
Klf13 |
G |
A |
7: 63,574,456 (GRCm39) |
Q21* |
probably null |
Het |
Kmt2a |
A |
T |
9: 44,731,222 (GRCm39) |
S3032T |
probably benign |
Het |
Krt34 |
T |
C |
11: 99,930,851 (GRCm39) |
R184G |
probably benign |
Het |
Krtap16-1 |
T |
C |
11: 99,876,994 (GRCm39) |
T137A |
probably benign |
Het |
Ldc1 |
A |
G |
4: 130,114,153 (GRCm39) |
V88A |
possibly damaging |
Het |
Mgam |
T |
C |
6: 40,723,422 (GRCm39) |
|
probably null |
Het |
Mog |
T |
C |
17: 37,325,648 (GRCm39) |
T196A |
possibly damaging |
Het |
Ms4a6d |
T |
C |
19: 11,579,216 (GRCm39) |
Y87C |
possibly damaging |
Het |
Ndrg4 |
C |
T |
8: 96,435,812 (GRCm39) |
|
probably benign |
Het |
Nsd1 |
T |
A |
13: 55,394,871 (GRCm39) |
M927K |
possibly damaging |
Het |
Or11l3 |
T |
A |
11: 58,516,282 (GRCm39) |
M197L |
probably benign |
Het |
Or4a73 |
G |
T |
2: 89,421,435 (GRCm39) |
T8K |
probably damaging |
Het |
Ovgp1 |
T |
C |
3: 105,893,883 (GRCm39) |
|
probably benign |
Het |
Pcdhac2 |
A |
G |
18: 37,279,095 (GRCm39) |
R692G |
possibly damaging |
Het |
Pcsk4 |
T |
A |
10: 80,160,864 (GRCm39) |
S321C |
probably damaging |
Het |
Pi4ka |
A |
G |
16: 17,120,859 (GRCm39) |
F1292L |
|
Het |
Pigv |
G |
T |
4: 133,397,110 (GRCm39) |
P6Q |
possibly damaging |
Het |
Pkhd1 |
A |
C |
1: 20,618,351 (GRCm39) |
S927A |
probably benign |
Het |
Pnpla3 |
A |
T |
15: 84,055,363 (GRCm39) |
I90F |
probably benign |
Het |
Pole |
C |
A |
5: 110,473,422 (GRCm39) |
L1739I |
probably damaging |
Het |
Pole |
T |
A |
5: 110,473,423 (GRCm39) |
L1739H |
probably damaging |
Het |
Rbm12 |
A |
T |
2: 155,939,317 (GRCm39) |
N318K |
possibly damaging |
Het |
Rpl18a |
A |
T |
8: 71,348,179 (GRCm39) |
L168Q |
probably benign |
Het |
Ryr2 |
T |
C |
13: 11,765,854 (GRCm39) |
N1294S |
probably damaging |
Het |
Sema5b |
T |
C |
16: 35,453,223 (GRCm39) |
L98P |
possibly damaging |
Het |
Slco1a8 |
G |
T |
6: 141,926,594 (GRCm39) |
F597L |
probably damaging |
Het |
Smg7 |
A |
G |
1: 152,721,262 (GRCm39) |
V650A |
probably damaging |
Het |
Spata31d1e |
T |
C |
13: 59,890,402 (GRCm39) |
M473V |
probably benign |
Het |
Strada |
C |
T |
11: 106,075,444 (GRCm39) |
R13Q |
probably damaging |
Het |
Sun1 |
T |
C |
5: 139,200,918 (GRCm39) |
S37P |
unknown |
Het |
Syce1l |
T |
C |
8: 114,380,738 (GRCm39) |
|
probably null |
Het |
Tdg |
T |
A |
10: 82,480,507 (GRCm39) |
F263L |
probably damaging |
Het |
Tead3 |
G |
T |
17: 28,560,495 (GRCm39) |
S36R |
probably benign |
Het |
Timm44 |
A |
G |
8: 4,310,621 (GRCm39) |
L377P |
probably damaging |
Het |
Tk1 |
C |
T |
11: 117,716,581 (GRCm39) |
V9M |
probably benign |
Het |
Trim36 |
A |
G |
18: 46,300,506 (GRCm39) |
Y722H |
probably benign |
Het |
Ttn |
A |
T |
2: 76,640,232 (GRCm39) |
M13792K |
possibly damaging |
Het |
Unc80 |
A |
G |
1: 66,594,411 (GRCm39) |
|
probably benign |
Het |
Usp46 |
G |
T |
5: 74,189,965 (GRCm39) |
A133E |
probably benign |
Het |
Wnk2 |
T |
A |
13: 49,221,430 (GRCm39) |
R1240S |
probably benign |
Het |
Zfp821 |
G |
A |
8: 110,450,982 (GRCm39) |
R325Q |
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 |
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 |
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'- GGGTCTCTGCCTTTGCTAAG -3'
(R):5'- TGACCAACCAGGATGTGAGC -3'
Sequencing Primer
(F):5'- CTTTGCTAAGGACGTGGGCAC -3'
(R):5'- TGCAGCTGTGAGTCCTCC -3'
|
Posted On |
2022-03-25 |