Incidental Mutation 'R5156:Epha8'
ID |
396720 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Epha8
|
Ensembl Gene |
ENSMUSG00000028661 |
Gene Name |
Eph receptor A8 |
Synonyms |
Eek, Hek3, EphA8 |
MMRRC Submission |
042738-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5156 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
136656730-136684127 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 136666037 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Asparagine
at position 373
(S373N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030420
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030420]
|
AlphaFold |
O09127 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030420
AA Change: S373N
PolyPhen 2
Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000030420 Gene: ENSMUSG00000028661 AA Change: S373N
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 |
0.0894 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
Validation Efficiency |
100% (52/52) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921513D11Rik |
G |
T |
17: 79,935,638 (GRCm39) |
|
probably benign |
Het |
Apeh |
C |
T |
9: 107,971,486 (GRCm39) |
A29T |
probably damaging |
Het |
Arap2 |
A |
T |
5: 62,826,524 (GRCm39) |
Y1013* |
probably null |
Het |
Arhgef4 |
A |
G |
1: 34,762,355 (GRCm39) |
E537G |
unknown |
Het |
Asf1b |
T |
C |
8: 84,682,540 (GRCm39) |
F28S |
probably damaging |
Het |
Cd46 |
T |
A |
1: 194,767,693 (GRCm39) |
I123L |
possibly damaging |
Het |
Cdca7 |
A |
T |
2: 72,309,370 (GRCm39) |
T48S |
probably damaging |
Het |
Cfap53 |
T |
A |
18: 74,492,838 (GRCm39) |
|
probably benign |
Het |
Clca3a2 |
T |
A |
3: 144,511,599 (GRCm39) |
T599S |
probably benign |
Het |
Csf1 |
T |
A |
3: 107,656,252 (GRCm39) |
T148S |
probably benign |
Het |
Dmbt1 |
T |
C |
7: 130,699,400 (GRCm39) |
|
probably null |
Het |
Dmpk |
A |
G |
7: 18,818,050 (GRCm39) |
D44G |
probably damaging |
Het |
Dnajb12 |
T |
A |
10: 59,728,782 (GRCm39) |
N223K |
probably damaging |
Het |
Dync1h1 |
T |
A |
12: 110,595,264 (GRCm39) |
M1392K |
probably benign |
Het |
Edrf1 |
C |
T |
7: 133,261,908 (GRCm39) |
A867V |
probably damaging |
Het |
Efemp2 |
T |
A |
19: 5,527,706 (GRCm39) |
C94S |
possibly damaging |
Het |
Foxk1 |
A |
G |
5: 142,434,588 (GRCm39) |
D284G |
possibly damaging |
Het |
Fzd10 |
C |
A |
5: 128,678,366 (GRCm39) |
R29S |
possibly damaging |
Het |
Gm13991 |
T |
C |
2: 116,358,665 (GRCm39) |
|
noncoding transcript |
Het |
Gm6818 |
A |
T |
7: 38,101,471 (GRCm39) |
|
noncoding transcript |
Het |
Hydin |
T |
A |
8: 111,336,333 (GRCm39) |
C5037S |
probably benign |
Het |
Ikzf1 |
T |
A |
11: 11,719,448 (GRCm39) |
M492K |
probably damaging |
Het |
Krt20 |
G |
T |
11: 99,320,879 (GRCm39) |
S394R |
possibly damaging |
Het |
Lrrc71 |
T |
A |
3: 87,653,094 (GRCm39) |
R107S |
probably benign |
Het |
Mia2 |
A |
G |
12: 59,219,323 (GRCm39) |
T436A |
possibly damaging |
Het |
Muc19 |
T |
A |
15: 91,784,614 (GRCm39) |
|
noncoding transcript |
Het |
Neu4 |
T |
C |
1: 93,952,177 (GRCm39) |
V182A |
probably damaging |
Het |
Notch2 |
T |
G |
3: 98,031,626 (GRCm39) |
F1167V |
possibly damaging |
Het |
Nrap |
A |
G |
19: 56,360,277 (GRCm39) |
M189T |
possibly damaging |
Het |
Nt5m |
A |
T |
11: 59,765,487 (GRCm39) |
I172F |
probably damaging |
Het |
Or5b118 |
G |
T |
19: 13,449,037 (GRCm39) |
K234N |
probably damaging |
Het |
Or5w15 |
G |
A |
2: 87,568,119 (GRCm39) |
P183L |
possibly damaging |
Het |
Or8k41 |
A |
T |
2: 86,313,362 (GRCm39) |
C241* |
probably null |
Het |
Plekha5 |
C |
T |
6: 140,372,254 (GRCm39) |
T68M |
probably damaging |
Het |
Ppef2 |
A |
G |
5: 92,392,461 (GRCm39) |
|
probably null |
Het |
Ppp1r37 |
T |
C |
7: 19,295,900 (GRCm39) |
|
probably benign |
Het |
Rfx4 |
T |
C |
10: 84,704,218 (GRCm39) |
Y238H |
probably damaging |
Het |
Sanbr |
A |
G |
11: 23,543,424 (GRCm39) |
|
probably null |
Het |
Sec13 |
G |
A |
6: 113,707,837 (GRCm39) |
A161V |
probably benign |
Het |
Serhl |
G |
A |
15: 82,986,895 (GRCm39) |
|
probably benign |
Het |
Slco4a1 |
T |
C |
2: 180,114,572 (GRCm39) |
V588A |
probably benign |
Het |
Slitrk3 |
T |
C |
3: 72,956,592 (GRCm39) |
T727A |
probably benign |
Het |
Sp100 |
T |
A |
1: 85,601,404 (GRCm39) |
D241E |
probably damaging |
Het |
Spata2 |
G |
T |
2: 167,325,494 (GRCm39) |
H442N |
probably damaging |
Het |
Speg |
T |
C |
1: 75,404,731 (GRCm39) |
V2588A |
probably damaging |
Het |
Tnfsf12 |
A |
G |
11: 69,578,155 (GRCm39) |
S141P |
probably damaging |
Het |
Trank1 |
A |
G |
9: 111,219,762 (GRCm39) |
I2166M |
probably damaging |
Het |
Trim10 |
T |
A |
17: 37,187,948 (GRCm39) |
V388E |
probably damaging |
Het |
Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
Vmn2r10 |
A |
G |
5: 109,143,466 (GRCm39) |
V828A |
probably benign |
Het |
Vmn2r75 |
T |
A |
7: 85,813,436 (GRCm39) |
L455F |
possibly damaging |
Het |
Vwa8 |
T |
A |
14: 79,221,666 (GRCm39) |
S541T |
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 |
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'- TGGTGATGTTGACCACAGC -3'
(R):5'- AGTTTCTTAGTTAAGAGGCCCC -3'
Sequencing Primer
(F):5'- ATGTTGACCACAGCAGCGC -3'
(R):5'- TTCTTAGTTAAGAGGCCCCCAGATAC -3'
|
Posted On |
2016-06-21 |