Incidental Mutation 'R7863:Epha8'
| ID |
607637 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epha8
|
| Ensembl Gene |
ENSMUSG00000028661 |
| Gene Name |
Eph receptor A8 |
| Synonyms |
Eek, Hek3, EphA8 |
| MMRRC Submission |
045916-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7863 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
136656730-136684127 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 136660966 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 639
(I639F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030420
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030420]
|
| AlphaFold |
O09127 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030420
AA Change: I639F
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000030420
Gene: ENSMUSG00000028661
AA Change: I639F
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
A |
G |
11: 48,838,101 (GRCm39) |
S829P |
probably benign |
Het |
| Abca1 |
A |
T |
4: 53,107,179 (GRCm39) |
F183I |
probably benign |
Het |
| Abca12 |
A |
T |
1: 71,332,656 (GRCm39) |
M1235K |
probably damaging |
Het |
| Abca7 |
A |
G |
10: 79,844,655 (GRCm39) |
D1488G |
probably damaging |
Het |
| Adgrl3 |
A |
G |
5: 81,660,596 (GRCm39) |
Y387C |
probably damaging |
Het |
| Adnp |
T |
C |
2: 168,031,270 (GRCm39) |
K14E |
possibly damaging |
Het |
| Ago3 |
T |
C |
4: 126,243,990 (GRCm39) |
R721G |
possibly damaging |
Het |
| Aldh3b3 |
T |
A |
19: 4,015,322 (GRCm39) |
Y196* |
probably null |
Het |
| Alox12b |
T |
C |
11: 69,057,753 (GRCm39) |
W506R |
probably damaging |
Het |
| Arid4b |
A |
G |
13: 14,338,734 (GRCm39) |
I402V |
probably benign |
Het |
| Cep55 |
C |
T |
19: 38,046,247 (GRCm39) |
|
probably benign |
Het |
| Chl1 |
A |
G |
6: 103,683,475 (GRCm39) |
N767S |
possibly damaging |
Het |
| Cldn6 |
A |
G |
17: 23,900,096 (GRCm39) |
N20S |
probably benign |
Het |
| Col23a1 |
A |
T |
11: 51,463,597 (GRCm39) |
I420F |
probably damaging |
Het |
| Cxcr6 |
G |
A |
9: 123,639,914 (GRCm39) |
R312Q |
probably damaging |
Het |
| Cyp4a10 |
T |
C |
4: 115,375,622 (GRCm39) |
V35A |
probably benign |
Het |
| Def6 |
A |
G |
17: 28,446,841 (GRCm39) |
N548D |
possibly damaging |
Het |
| Dock6 |
A |
G |
9: 21,757,954 (GRCm39) |
V50A |
possibly damaging |
Het |
| Ephx2 |
T |
A |
14: 66,344,692 (GRCm39) |
R211* |
probably null |
Het |
| Espn |
C |
T |
4: 152,236,616 (GRCm39) |
V17M |
probably damaging |
Het |
| Ezr |
A |
G |
17: 7,008,863 (GRCm39) |
L403P |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Golm1 |
T |
C |
13: 59,797,383 (GRCm39) |
Y154C |
probably damaging |
Het |
| Gpam |
A |
G |
19: 55,059,388 (GRCm39) |
Y820H |
probably damaging |
Het |
| Gpr12 |
T |
C |
5: 146,520,370 (GRCm39) |
D184G |
possibly damaging |
Het |
| Gpr87 |
C |
T |
3: 59,087,317 (GRCm39) |
A63T |
probably damaging |
Het |
| Hmx2 |
G |
T |
7: 131,156,082 (GRCm39) |
G16V |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,292,135 (GRCm39) |
V4009A |
probably benign |
Het |
| Iglc3 |
T |
C |
16: 18,884,248 (GRCm39) |
D61G |
not run |
Het |
| Ikzf2 |
G |
T |
1: 69,609,796 (GRCm39) |
Q144K |
possibly damaging |
Het |
| Il1rap |
C |
T |
16: 26,495,461 (GRCm39) |
R23C |
probably damaging |
Het |
| Kctd9 |
T |
A |
14: 67,967,166 (GRCm39) |
D161E |
possibly damaging |
Het |
| Klhl8 |
T |
C |
5: 104,019,968 (GRCm39) |
N351S |
probably benign |
Het |
| Krt28 |
G |
A |
11: 99,255,999 (GRCm39) |
T420I |
possibly damaging |
Het |
| Marchf7 |
T |
A |
2: 60,071,366 (GRCm39) |
H623Q |
probably benign |
Het |
| Max |
A |
G |
12: 76,986,848 (GRCm39) |
I63T |
probably damaging |
Het |
| Mrpl28 |
T |
A |
17: 26,343,615 (GRCm39) |
V125E |
possibly damaging |
Het |
| Mtmr10 |
T |
A |
7: 63,969,205 (GRCm39) |
D322E |
probably benign |
Het |
| Mtrex |
T |
C |
13: 113,045,435 (GRCm39) |
T366A |
probably benign |
Het |
| Nlrp4f |
A |
T |
13: 65,342,059 (GRCm39) |
Y529N |
possibly damaging |
Het |
| Nlrx1 |
A |
G |
9: 44,176,509 (GRCm39) |
I31T |
probably benign |
Het |
| Oaz2 |
G |
A |
9: 65,596,449 (GRCm39) |
R171Q |
possibly damaging |
Het |
| Or4c121 |
T |
G |
2: 89,024,295 (GRCm39) |
I28L |
probably benign |
Het |
| Or5a1 |
T |
G |
19: 12,097,974 (GRCm39) |
D34A |
possibly damaging |
Het |
| Or5t16 |
T |
G |
2: 86,819,424 (GRCm39) |
Y32S |
probably damaging |
Het |
| Pcdhgc4 |
T |
A |
18: 37,951,027 (GRCm39) |
Y814* |
probably null |
Het |
| Pcm1 |
T |
A |
8: 41,714,163 (GRCm39) |
I243K |
probably damaging |
Het |
| Pdcd11 |
A |
T |
19: 47,085,403 (GRCm39) |
N171I |
probably damaging |
Het |
| Phf20l1 |
T |
A |
15: 66,487,084 (GRCm39) |
V400E |
possibly damaging |
Het |
| Pira13 |
C |
T |
7: 3,827,801 (GRCm39) |
|
probably null |
Het |
| Psg28 |
T |
A |
7: 18,162,042 (GRCm39) |
T154S |
possibly damaging |
Het |
| Ptgs2 |
T |
A |
1: 149,977,090 (GRCm39) |
M99K |
probably damaging |
Het |
| Ptprh |
T |
A |
7: 4,606,097 (GRCm39) |
M1L |
probably benign |
Het |
| Rbp4 |
T |
C |
19: 38,112,546 (GRCm39) |
T140A |
possibly damaging |
Het |
| Rhbdd3 |
G |
A |
11: 5,053,236 (GRCm39) |
R12Q |
probably benign |
Het |
| Saal1 |
T |
C |
7: 46,342,327 (GRCm39) |
N372S |
probably benign |
Het |
| Satb1 |
T |
C |
17: 52,112,350 (GRCm39) |
E88G |
possibly damaging |
Het |
| Shfl |
G |
A |
9: 20,782,672 (GRCm39) |
A79T |
possibly damaging |
Het |
| Slc49a3 |
A |
T |
5: 108,593,400 (GRCm39) |
L146Q |
probably damaging |
Het |
| Slc6a9 |
G |
T |
4: 117,721,207 (GRCm39) |
C319F |
probably damaging |
Het |
| Smc6 |
T |
G |
12: 11,339,130 (GRCm39) |
V322G |
probably benign |
Het |
| Snrnp200 |
T |
A |
2: 127,073,609 (GRCm39) |
F1336I |
probably damaging |
Het |
| Spg7 |
T |
A |
8: 123,815,788 (GRCm39) |
|
probably null |
Het |
| Stab2 |
G |
A |
10: 86,808,745 (GRCm39) |
T188I |
probably benign |
Het |
| Tbata |
A |
G |
10: 61,011,521 (GRCm39) |
E19G |
probably benign |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Ticrr |
T |
C |
7: 79,331,760 (GRCm39) |
V757A |
possibly damaging |
Het |
| Tle1 |
T |
C |
4: 72,059,529 (GRCm39) |
S261G |
probably null |
Het |
| Tlr3 |
T |
A |
8: 45,850,774 (GRCm39) |
I708L |
probably benign |
Het |
| Tph2 |
A |
C |
10: 114,915,906 (GRCm39) |
S422R |
probably damaging |
Het |
| Trim26 |
A |
G |
17: 37,161,664 (GRCm39) |
T28A |
probably damaging |
Het |
| Trmt10c |
A |
G |
16: 55,855,554 (GRCm39) |
L27S |
probably benign |
Het |
| Tubb6 |
T |
C |
18: 67,534,790 (GRCm39) |
S230P |
probably damaging |
Het |
| Usf1 |
C |
T |
1: 171,245,385 (GRCm39) |
Q266* |
probably null |
Het |
| Vegfa |
A |
G |
17: 46,336,461 (GRCm39) |
F220L |
probably damaging |
Het |
| Vmn2r105 |
C |
T |
17: 20,428,937 (GRCm39) |
C713Y |
probably benign |
Het |
| Vmn2r17 |
T |
A |
5: 109,568,035 (GRCm39) |
S53T |
probably benign |
Het |
| Xirp2 |
A |
T |
2: 67,343,074 (GRCm39) |
T1772S |
probably benign |
Het |
| Zfp462 |
T |
C |
4: 55,007,747 (GRCm39) |
I62T |
probably benign |
Het |
| Zfp516 |
T |
A |
18: 83,019,453 (GRCm39) |
I1157N |
probably benign |
Het |
| Zfp819 |
C |
A |
7: 43,267,316 (GRCm39) |
Q600K |
probably benign |
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 |
|
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'- CGTGTAGCCAGCTTTGAGAG -3'
(R):5'- TCCTCTTGTCCCGATTGAGG -3'
Sequencing Primer
(F):5'- CACATCGCGCTGTCCTG -3'
(R):5'- GATTGAGGGCCCTTCTCCTTGAC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation