Incidental Mutation 'R8889:Epha8'
| ID |
677543 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epha8
|
| Ensembl Gene |
ENSMUSG00000028661 |
| Gene Name |
Eph receptor A8 |
| Synonyms |
Eek, Hek3, EphA8 |
| MMRRC Submission |
068693-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8889 (G1)
|
| Quality Score |
161.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
136656730-136684127 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 136661850 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 582
(H582N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030420
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030420]
|
| AlphaFold |
O09127 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030420
AA Change: H582N
PolyPhen 2
Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000030420
Gene: ENSMUSG00000028661
AA Change: H582N
| 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 |
0.0718 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (78/78) |
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
T |
A |
7: 119,815,606 (GRCm39) |
L285I |
probably damaging |
Het |
| Abcc2 |
T |
G |
19: 43,795,571 (GRCm39) |
S442R |
possibly damaging |
Het |
| Adgrl3 |
A |
T |
5: 81,874,516 (GRCm39) |
I938F |
probably damaging |
Het |
| Ank1 |
T |
C |
8: 23,606,990 (GRCm39) |
L1297P |
probably damaging |
Het |
| Ap3b1 |
G |
A |
13: 94,679,348 (GRCm39) |
V997M |
unknown |
Het |
| Ash2l |
T |
C |
8: 26,313,247 (GRCm39) |
K413R |
probably benign |
Het |
| Cacnb1 |
A |
T |
11: 97,901,192 (GRCm39) |
V220E |
probably damaging |
Het |
| Cacul1 |
A |
T |
19: 60,568,960 (GRCm39) |
L66Q |
probably damaging |
Het |
| Camkv |
C |
T |
9: 107,823,333 (GRCm39) |
R120* |
probably null |
Het |
| Ccny |
T |
G |
18: 9,345,235 (GRCm39) |
S180R |
probably damaging |
Het |
| Cdh23 |
G |
T |
10: 60,143,284 (GRCm39) |
H3012Q |
probably damaging |
Het |
| Clasp2 |
T |
A |
9: 113,709,251 (GRCm39) |
L680Q |
probably damaging |
Het |
| Clip1 |
A |
T |
5: 123,717,565 (GRCm39) |
S1241R |
probably benign |
Het |
| Cthrc1 |
T |
A |
15: 38,940,445 (GRCm39) |
L16H |
probably damaging |
Het |
| Ctnna1 |
G |
A |
18: 35,372,586 (GRCm39) |
V514I |
possibly damaging |
Het |
| Ddr1 |
A |
C |
17: 35,993,556 (GRCm39) |
I852S |
probably benign |
Het |
| Echs1 |
A |
C |
7: 139,688,031 (GRCm39) |
L258R |
probably damaging |
Het |
| Exph5 |
G |
T |
9: 53,287,955 (GRCm39) |
G1679W |
probably damaging |
Het |
| Fhod3 |
G |
A |
18: 25,189,452 (GRCm39) |
|
probably null |
Het |
| Gm10803 |
G |
A |
2: 93,394,281 (GRCm39) |
D18N |
unknown |
Het |
| Gpr152 |
T |
A |
19: 4,192,723 (GRCm39) |
I88N |
probably damaging |
Het |
| Gpr179 |
T |
C |
11: 97,226,590 (GRCm39) |
D1855G |
possibly damaging |
Het |
| H2al2a |
T |
A |
2: 18,001,599 (GRCm39) |
D29V |
probably damaging |
Het |
| Hnrnpf |
T |
G |
6: 117,901,753 (GRCm39) |
S346A |
probably benign |
Het |
| Hsd11b2 |
C |
T |
8: 106,249,263 (GRCm39) |
R213C |
probably damaging |
Het |
| Il17rd |
A |
G |
14: 26,821,930 (GRCm39) |
D552G |
possibly damaging |
Het |
| Ipo9 |
T |
C |
1: 135,314,544 (GRCm39) |
N904S |
possibly damaging |
Het |
| Klhl14 |
T |
G |
18: 21,691,220 (GRCm39) |
T437P |
possibly damaging |
Het |
| Krt5 |
T |
C |
15: 101,619,185 (GRCm39) |
M268V |
probably benign |
Het |
| Lhx4 |
T |
C |
1: 155,581,013 (GRCm39) |
T171A |
possibly damaging |
Het |
| Ltn1 |
A |
T |
16: 87,229,230 (GRCm39) |
|
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,249,036 (GRCm39) |
L7165P |
probably damaging |
Het |
| Micall2 |
T |
A |
5: 139,703,254 (GRCm39) |
H194L |
probably damaging |
Het |
| Mmp16 |
T |
A |
4: 18,051,820 (GRCm39) |
Y270N |
probably damaging |
Het |
| Nme6 |
T |
G |
9: 109,668,706 (GRCm39) |
F41V |
probably damaging |
Het |
| Npffr1 |
A |
G |
10: 61,449,939 (GRCm39) |
N71S |
possibly damaging |
Het |
| Or1p4-ps1 |
T |
C |
11: 74,207,949 (GRCm39) |
W33R |
probably damaging |
Het |
| Or4k41 |
A |
G |
2: 111,279,967 (GRCm39) |
I161V |
probably benign |
Het |
| Pard3b |
T |
A |
1: 62,677,026 (GRCm39) |
Y1186N |
probably damaging |
Het |
| Pate5 |
T |
A |
9: 35,750,682 (GRCm39) |
T47S |
probably damaging |
Het |
| Pcca |
A |
G |
14: 122,795,123 (GRCm39) |
|
probably benign |
Het |
| Plekha8 |
A |
G |
6: 54,592,540 (GRCm39) |
|
probably benign |
Het |
| Ptpn14 |
T |
A |
1: 189,554,872 (GRCm39) |
L144* |
probably null |
Het |
| Rad52 |
C |
T |
6: 119,890,041 (GRCm39) |
R56C |
probably damaging |
Het |
| Rdx |
C |
T |
9: 51,997,753 (GRCm39) |
R576C |
probably damaging |
Het |
| Rnf135 |
C |
T |
11: 80,074,957 (GRCm39) |
T72I |
probably benign |
Het |
| Robo4 |
G |
T |
9: 37,314,601 (GRCm39) |
R196L |
probably benign |
Het |
| Rsf1 |
G |
GACGTCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
A |
T |
7: 97,328,171 (GRCm39) |
I1058F |
|
Het |
| Ryr2 |
A |
T |
13: 11,799,990 (GRCm39) |
V919E |
probably damaging |
Het |
| Slc39a6 |
A |
T |
18: 24,729,386 (GRCm39) |
Y442* |
probably null |
Het |
| Slc4a11 |
T |
G |
2: 130,529,140 (GRCm39) |
S437R |
probably damaging |
Het |
| Slc7a6 |
T |
A |
8: 106,922,534 (GRCm39) |
V440E |
probably damaging |
Het |
| Sox2 |
A |
T |
3: 34,705,129 (GRCm39) |
N189Y |
possibly damaging |
Het |
| Spata13 |
A |
T |
14: 60,994,030 (GRCm39) |
M1161L |
probably benign |
Het |
| Spock3 |
T |
A |
8: 63,404,986 (GRCm39) |
Y51* |
probably null |
Het |
| Sptbn1 |
A |
G |
11: 30,067,800 (GRCm39) |
Y1805H |
probably benign |
Het |
| Tcerg1l |
C |
T |
7: 137,999,260 (GRCm39) |
W41* |
probably null |
Het |
| Tdrd9 |
A |
G |
12: 111,979,718 (GRCm39) |
Y401C |
probably benign |
Het |
| Tex47 |
A |
T |
5: 7,355,115 (GRCm39) |
I99F |
probably damaging |
Het |
| Tlr9 |
G |
A |
9: 106,099,834 (GRCm39) |
|
probably benign |
Het |
| Tmem209 |
T |
A |
6: 30,497,942 (GRCm39) |
S276C |
possibly damaging |
Het |
| Tmprss11f |
A |
C |
5: 86,687,618 (GRCm39) |
S97A |
possibly damaging |
Het |
| Tnfaip8 |
ACACACTC |
AC |
18: 50,179,908 (GRCm39) |
|
probably benign |
Het |
| Ttc7 |
T |
A |
17: 87,637,520 (GRCm39) |
M425K |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,739,466 (GRCm39) |
G3737D |
unknown |
Het |
| Unc13b |
A |
T |
4: 43,176,484 (GRCm39) |
R2437S |
unknown |
Het |
| Uqcrc1 |
C |
T |
9: 108,766,186 (GRCm39) |
R58C |
probably damaging |
Het |
| Vmn1r128 |
A |
G |
7: 21,083,740 (GRCm39) |
Y148C |
possibly damaging |
Het |
| Vmn1r193 |
T |
C |
13: 22,403,839 (GRCm39) |
Y51C |
probably benign |
Het |
| Vmn2r112 |
A |
G |
17: 22,837,612 (GRCm39) |
Y691C |
probably damaging |
Het |
| Vmn2r25 |
T |
A |
6: 123,800,569 (GRCm39) |
D591V |
probably damaging |
Het |
| Vmn2r94 |
A |
G |
17: 18,464,335 (GRCm39) |
S652P |
possibly damaging |
Het |
| Vps50 |
T |
A |
6: 3,536,967 (GRCm39) |
C313S |
probably damaging |
Het |
| Vwa5b1 |
A |
G |
4: 138,338,041 (GRCm39) |
V93A |
probably benign |
Het |
| Xrcc5 |
T |
G |
1: 72,382,190 (GRCm39) |
D455E |
possibly damaging |
Het |
| Zdhhc6 |
T |
A |
19: 55,290,987 (GRCm39) |
|
probably benign |
Het |
| Zfp964 |
G |
A |
8: 70,116,405 (GRCm39) |
G335D |
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 |
|
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'- AGAGGCATCACGCATGAAC -3'
(R):5'- TGAGTCTAGAACCAAGGCCC -3'
Sequencing Primer
(F):5'- TGAACTACACATGAGTAGACCCATG -3'
(R):5'- AAGGCCCCTCCTCTTCAGAC -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation