Incidental Mutation 'R4581:Epha8'
ID |
343661 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Epha8
|
Ensembl Gene |
ENSMUSG00000028661 |
Gene Name |
Eph receptor A8 |
Synonyms |
Eek, Hek3, EphA8 |
MMRRC Submission |
041802-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4581 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
136656730-136684127 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 136660775 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 648
(V648M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030420
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030420]
|
AlphaFold |
O09127 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030420
AA Change: V648M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000030420 Gene: ENSMUSG00000028661 AA Change: V648M
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: 97.2%
- 20x: 95.1%
|
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
G |
T |
14: 32,383,828 (GRCm39) |
S712R |
possibly damaging |
Het |
4933427I04Rik |
A |
G |
4: 123,754,146 (GRCm39) |
D20G |
possibly damaging |
Het |
Abca7 |
A |
G |
10: 79,842,402 (GRCm39) |
D1112G |
probably benign |
Het |
Actc1 |
G |
T |
2: 113,880,089 (GRCm39) |
H175N |
possibly damaging |
Het |
Adgrd1 |
C |
T |
5: 129,279,595 (GRCm39) |
A863V |
possibly damaging |
Het |
Ankrd17 |
T |
C |
5: 90,430,979 (GRCm39) |
D935G |
possibly damaging |
Het |
Ankrd7 |
T |
A |
6: 18,868,020 (GRCm39) |
N95K |
probably damaging |
Het |
Arhgef4 |
G |
A |
1: 34,771,205 (GRCm39) |
E1171K |
possibly damaging |
Het |
Ascc3 |
T |
C |
10: 50,587,121 (GRCm39) |
I991T |
probably damaging |
Het |
Cacna1s |
T |
A |
1: 135,998,708 (GRCm39) |
|
probably null |
Het |
Camk1d |
A |
T |
2: 5,359,515 (GRCm39) |
V177E |
probably benign |
Het |
Cdh18 |
T |
A |
15: 23,226,869 (GRCm39) |
I110N |
probably damaging |
Het |
Cenpe |
A |
G |
3: 134,952,761 (GRCm39) |
K1484E |
probably benign |
Het |
Cep68 |
A |
G |
11: 20,189,333 (GRCm39) |
S560P |
probably benign |
Het |
Cog3 |
G |
T |
14: 75,970,391 (GRCm39) |
T352K |
probably benign |
Het |
Cox6a2 |
A |
G |
7: 127,805,152 (GRCm39) |
S44P |
possibly damaging |
Het |
Cplane1 |
C |
A |
15: 8,201,282 (GRCm39) |
P20T |
possibly damaging |
Het |
Csmd2 |
T |
C |
4: 128,262,881 (GRCm39) |
V689A |
probably benign |
Het |
Ddx60 |
A |
T |
8: 62,476,295 (GRCm39) |
M1548L |
possibly damaging |
Het |
Dennd5b |
G |
T |
6: 148,918,482 (GRCm39) |
|
silent |
Het |
Dlgap2 |
T |
C |
8: 14,896,679 (GRCm39) |
Y1052H |
probably damaging |
Het |
Dnaaf5 |
T |
A |
5: 139,170,440 (GRCm39) |
D502E |
probably damaging |
Het |
Efhb |
C |
A |
17: 53,733,303 (GRCm39) |
A523S |
probably damaging |
Het |
Fanca |
C |
T |
8: 124,001,077 (GRCm39) |
|
probably null |
Het |
Fbxw7 |
G |
A |
3: 84,874,852 (GRCm39) |
E205K |
probably benign |
Het |
Fer1l6 |
C |
T |
15: 58,512,075 (GRCm39) |
T1514I |
probably damaging |
Het |
Gm12886 |
T |
C |
4: 121,273,880 (GRCm39) |
E112G |
probably damaging |
Het |
Gm7535 |
T |
C |
17: 18,131,345 (GRCm39) |
|
probably benign |
Het |
Irf2bp2 |
T |
A |
8: 127,317,994 (GRCm39) |
Q524L |
probably damaging |
Het |
Itih4 |
A |
G |
14: 30,622,925 (GRCm39) |
D864G |
probably benign |
Het |
Kdm4c |
T |
G |
4: 74,275,576 (GRCm39) |
|
probably null |
Het |
Ltn1 |
A |
T |
16: 87,198,912 (GRCm39) |
|
probably null |
Het |
Mafa |
G |
T |
15: 75,619,585 (GRCm39) |
P63T |
unknown |
Het |
Mars2 |
T |
A |
1: 55,277,021 (GRCm39) |
L208H |
probably damaging |
Het |
Myom2 |
A |
G |
8: 15,156,459 (GRCm39) |
I769V |
probably benign |
Het |
Nyap1 |
A |
G |
5: 137,734,284 (GRCm39) |
S250P |
probably damaging |
Het |
Or8k35 |
A |
T |
2: 86,424,572 (GRCm39) |
M200K |
probably benign |
Het |
Osmr |
C |
T |
15: 6,872,375 (GRCm39) |
V240I |
probably benign |
Het |
Pcdhga3 |
A |
G |
18: 37,809,934 (GRCm39) |
T796A |
probably benign |
Het |
Pclo |
T |
C |
5: 14,725,519 (GRCm39) |
V1459A |
unknown |
Het |
Phactr3 |
A |
C |
2: 177,924,965 (GRCm39) |
H300P |
probably damaging |
Het |
Pla2g4e |
T |
G |
2: 120,016,863 (GRCm39) |
H226P |
possibly damaging |
Het |
Plcd4 |
T |
A |
1: 74,587,383 (GRCm39) |
W48R |
probably damaging |
Het |
Prdm16 |
A |
G |
4: 154,407,810 (GRCm39) |
S1140P |
probably damaging |
Het |
Rarg |
A |
C |
15: 102,160,986 (GRCm39) |
S18A |
possibly damaging |
Het |
Rfx4 |
T |
A |
10: 84,680,164 (GRCm39) |
S114T |
possibly damaging |
Het |
Sec14l4 |
G |
A |
11: 3,993,375 (GRCm39) |
|
probably null |
Het |
Six1 |
T |
G |
12: 73,092,708 (GRCm39) |
T165P |
probably benign |
Het |
Skint4 |
T |
C |
4: 111,944,239 (GRCm39) |
L17P |
probably damaging |
Het |
Slc25a23 |
T |
A |
17: 57,359,740 (GRCm39) |
Y337F |
probably damaging |
Het |
Slc9a3 |
A |
G |
13: 74,312,284 (GRCm39) |
Y627C |
probably damaging |
Het |
Smu1 |
A |
C |
4: 40,737,401 (GRCm39) |
|
probably null |
Het |
Spryd3 |
A |
G |
15: 102,038,799 (GRCm39) |
S141P |
probably damaging |
Het |
Src |
A |
T |
2: 157,304,958 (GRCm39) |
N175I |
probably damaging |
Het |
Srcap |
GCTCCTCCTCCTCCTCCT |
GCTCCTCCTCCTCCT |
7: 127,157,482 (GRCm39) |
|
probably benign |
Het |
Stc2 |
A |
G |
11: 31,315,326 (GRCm39) |
|
probably null |
Het |
Taf6l |
T |
C |
19: 8,755,572 (GRCm39) |
D261G |
probably damaging |
Het |
Tal1 |
T |
G |
4: 114,921,919 (GRCm39) |
V167G |
probably damaging |
Het |
Tfec |
G |
A |
6: 16,834,124 (GRCm39) |
T261I |
probably damaging |
Het |
Tgfb1 |
G |
T |
7: 25,396,655 (GRCm39) |
S273I |
possibly damaging |
Het |
Tmem8b |
T |
A |
4: 43,685,760 (GRCm39) |
V636E |
probably damaging |
Het |
Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
Trappc11 |
A |
T |
8: 47,946,380 (GRCm39) |
M1084K |
probably damaging |
Het |
Trem3 |
A |
C |
17: 48,556,639 (GRCm39) |
T37P |
possibly damaging |
Het |
Ttc7b |
G |
A |
12: 100,466,376 (GRCm39) |
R79C |
probably damaging |
Het |
Urb1 |
T |
C |
16: 90,585,034 (GRCm39) |
D529G |
probably benign |
Het |
Vmn2r8 |
T |
A |
5: 108,949,570 (GRCm39) |
T426S |
probably benign |
Het |
Yipf4 |
T |
C |
17: 74,806,089 (GRCm39) |
Y243H |
probably benign |
Het |
Zfp574 |
T |
A |
7: 24,780,738 (GRCm39) |
C587S |
probably damaging |
Het |
Zfp93 |
C |
A |
7: 23,975,093 (GRCm39) |
H359Q |
probably damaging |
Het |
Znfx1 |
T |
C |
2: 166,892,236 (GRCm39) |
E660G |
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 |
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'- ATGCTGACCTTGGCTGGTAC -3'
(R):5'- TCCACATTGAGAAGATCATAGGC -3'
Sequencing Primer
(F):5'- GACCTTGGCTGGTACCTACC -3'
(R):5'- CATTGAGAAGATCATAGGCTCGGG -3'
|
Posted On |
2015-09-24 |