Incidental Mutation 'R8290:Epha8'
| ID |
638630 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epha8
|
| Ensembl Gene |
ENSMUSG00000028661 |
| Gene Name |
Eph receptor A8 |
| Synonyms |
Eek, Hek3, EphA8 |
| MMRRC Submission |
067712-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8290 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not 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: 99.6%
- 20x: 98.6%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
A |
T |
8: 87,238,911 (GRCm39) |
Y1100N |
probably damaging |
Het |
| Abcf2 |
CAT |
CATAAT |
5: 24,781,589 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,630,002 (GRCm39) |
T3576A |
probably benign |
Het |
| Adnp2 |
A |
T |
18: 80,185,948 (GRCm39) |
N8K |
probably damaging |
Het |
| Aftph |
A |
T |
11: 20,675,712 (GRCm39) |
H632Q |
probably benign |
Het |
| Arhgef11 |
A |
T |
3: 87,633,275 (GRCm39) |
I710F |
probably damaging |
Het |
| Atp6v1c2 |
T |
C |
12: 17,338,153 (GRCm39) |
N341S |
possibly damaging |
Het |
| Ccsap |
T |
G |
8: 124,585,986 (GRCm39) |
D55A |
probably benign |
Het |
| Cdh17 |
A |
G |
4: 11,817,037 (GRCm39) |
N816S |
probably benign |
Het |
| Celf3 |
A |
G |
3: 94,386,489 (GRCm39) |
I26V |
probably benign |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Chek2 |
A |
G |
5: 111,008,766 (GRCm39) |
E299G |
possibly damaging |
Het |
| Clca3a2 |
A |
G |
3: 144,793,719 (GRCm39) |
V312A |
possibly damaging |
Het |
| Cnn1 |
A |
G |
9: 22,012,447 (GRCm39) |
K25R |
probably benign |
Het |
| Cry1 |
A |
T |
10: 84,978,977 (GRCm39) |
Y516* |
probably null |
Het |
| Dcaf4 |
T |
C |
12: 83,588,333 (GRCm39) |
S498P |
probably benign |
Het |
| Dmgdh |
T |
C |
13: 93,843,244 (GRCm39) |
V360A |
probably benign |
Het |
| Dnajc18 |
G |
A |
18: 35,816,324 (GRCm39) |
R205* |
probably null |
Het |
| Eif4a2 |
G |
T |
16: 22,927,372 (GRCm39) |
G22C |
probably damaging |
Het |
| Elmo2 |
A |
G |
2: 165,150,923 (GRCm39) |
I196T |
probably damaging |
Het |
| Epha3 |
A |
G |
16: 63,472,859 (GRCm39) |
I342T |
possibly damaging |
Het |
| Etf1 |
G |
A |
18: 35,064,891 (GRCm39) |
P35L |
unknown |
Het |
| Etnk2 |
A |
C |
1: 133,307,127 (GRCm39) |
*386C |
probably null |
Het |
| Fgg |
A |
T |
3: 82,920,141 (GRCm39) |
I307F |
probably benign |
Het |
| Flg2 |
A |
G |
3: 93,110,069 (GRCm39) |
Q699R |
unknown |
Het |
| Foxp4 |
T |
A |
17: 48,191,778 (GRCm39) |
T120S |
unknown |
Het |
| Fzd1 |
A |
G |
5: 4,807,060 (GRCm39) |
V174A |
possibly damaging |
Het |
| Gad1 |
A |
C |
2: 70,404,610 (GRCm39) |
I167L |
probably benign |
Het |
| Gfm2 |
T |
A |
13: 97,282,171 (GRCm39) |
D55E |
probably benign |
Het |
| Grb14 |
G |
T |
2: 64,805,929 (GRCm39) |
A12E |
probably benign |
Het |
| Hnmt |
A |
C |
2: 23,893,896 (GRCm39) |
Y199* |
probably null |
Het |
| Kit |
A |
G |
5: 75,801,829 (GRCm39) |
I615V |
probably benign |
Het |
| Kpna6 |
A |
G |
4: 129,555,097 (GRCm39) |
|
probably null |
Het |
| Lpxn |
C |
T |
19: 12,810,052 (GRCm39) |
R275C |
probably damaging |
Het |
| Magi1 |
C |
T |
6: 94,260,066 (GRCm39) |
G80S |
probably damaging |
Het |
| Men1 |
A |
G |
19: 6,388,316 (GRCm39) |
I312V |
probably benign |
Het |
| Msx2 |
A |
G |
13: 53,622,528 (GRCm39) |
F161L |
probably damaging |
Het |
| Mtr |
T |
C |
13: 12,205,139 (GRCm39) |
D1107G |
probably damaging |
Het |
| Muc4 |
A |
T |
16: 32,575,434 (GRCm39) |
M1397L |
probably benign |
Het |
| Mybpc3 |
A |
G |
2: 90,951,473 (GRCm39) |
N259S |
probably benign |
Het |
| Myo5c |
A |
G |
9: 75,196,178 (GRCm39) |
K1242R |
probably benign |
Het |
| Myoc |
T |
C |
1: 162,476,601 (GRCm39) |
V435A |
possibly damaging |
Het |
| Nbea |
G |
A |
3: 55,966,056 (GRCm39) |
Q469* |
probably null |
Het |
| Ndufa10 |
A |
C |
1: 92,390,869 (GRCm39) |
M227R |
possibly damaging |
Het |
| Obscn |
C |
T |
11: 58,953,536 (GRCm39) |
D3831N |
probably damaging |
Het |
| Obscn |
T |
C |
11: 59,015,400 (GRCm39) |
E1024G |
probably damaging |
Het |
| Oma1 |
T |
C |
4: 103,176,671 (GRCm39) |
L145P |
probably damaging |
Het |
| Phf11 |
T |
C |
14: 59,485,418 (GRCm39) |
Y114C |
probably damaging |
Het |
| Phf12 |
C |
A |
11: 77,920,465 (GRCm39) |
N1000K |
probably benign |
Het |
| Plxnb1 |
G |
T |
9: 108,938,687 (GRCm39) |
A1350S |
probably benign |
Het |
| Prkd1 |
C |
T |
12: 50,388,799 (GRCm39) |
V915I |
probably damaging |
Het |
| Prkra |
T |
A |
2: 76,463,982 (GRCm39) |
N227Y |
probably damaging |
Het |
| Prtg |
A |
T |
9: 72,798,077 (GRCm39) |
H681L |
probably damaging |
Het |
| Rtn1 |
T |
C |
12: 72,355,193 (GRCm39) |
K251R |
probably benign |
Het |
| Sema6b |
A |
T |
17: 56,431,803 (GRCm39) |
V620E |
possibly damaging |
Het |
| Senp7 |
T |
A |
16: 55,974,000 (GRCm39) |
L407* |
probably null |
Het |
| Sh3pxd2a |
A |
T |
19: 47,302,575 (GRCm39) |
L168Q |
probably damaging |
Het |
| Shtn1 |
A |
G |
19: 58,988,326 (GRCm39) |
L453P |
probably damaging |
Het |
| Slc26a6 |
G |
A |
9: 108,733,230 (GRCm39) |
R43H |
probably benign |
Het |
| Stac3 |
T |
C |
10: 127,339,229 (GRCm39) |
|
probably null |
Het |
| Taf2 |
A |
G |
15: 54,926,416 (GRCm39) |
F178S |
probably damaging |
Het |
| Tcp10a |
G |
A |
17: 7,601,716 (GRCm39) |
E239K |
probably benign |
Het |
| Ubox5 |
A |
G |
2: 130,442,333 (GRCm39) |
V118A |
probably damaging |
Het |
| Unc13d |
C |
A |
11: 115,958,973 (GRCm39) |
L729F |
probably damaging |
Het |
| Vmn1r228 |
T |
C |
17: 20,996,724 (GRCm39) |
T265A |
probably benign |
Het |
| Vmn2r100 |
G |
A |
17: 19,751,612 (GRCm39) |
V615I |
probably damaging |
Het |
| Vmn2r60 |
T |
G |
7: 41,791,690 (GRCm39) |
C538G |
probably damaging |
Het |
| Vmn2r93 |
A |
T |
17: 18,524,291 (GRCm39) |
N95I |
probably damaging |
Het |
| Vsig2 |
A |
G |
9: 37,451,264 (GRCm39) |
N55S |
probably benign |
Het |
| Zfp472 |
A |
G |
17: 33,197,088 (GRCm39) |
T388A |
probably benign |
Het |
| Zfp853 |
G |
A |
5: 143,274,826 (GRCm39) |
Q214* |
probably null |
Het |
| Zfp949 |
A |
G |
9: 88,451,293 (GRCm39) |
R288G |
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 |
|
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'- AACTGATGACTGCCTCTGTGTTC -3'
(R):5'- TCACCTACAACGCAGTGTGC -3'
Sequencing Primer
(F):5'- CAGACTGAGTTCTGCTTTCCTATAGG -3'
(R):5'- AGTGGAACTCGCTTCGT -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation