Incidental Mutation 'R4581:Epha8'
| ID |
343661 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epha8
|
| Ensembl Gene |
ENSMUSG00000028661 |
| Gene Name |
Eph receptor A8 |
| Synonyms |
EphA8, Hek3, Eek |
| 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 |
136929419-136956816 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 136933464 bp (GRCm38)
|
| 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 |
|---|
| 2410089E03Rik |
C |
A |
15: 8,171,798 (GRCm38) |
P20T |
possibly damaging |
Het |
| 3425401B19Rik |
G |
T |
14: 32,661,871 (GRCm38) |
S712R |
possibly damaging |
Het |
| 4933427I04Rik |
A |
G |
4: 123,860,353 (GRCm38) |
D20G |
possibly damaging |
Het |
| Abca7 |
A |
G |
10: 80,006,568 (GRCm38) |
D1112G |
probably benign |
Het |
| Actc1 |
G |
T |
2: 114,049,608 (GRCm38) |
H175N |
possibly damaging |
Het |
| Adgrd1 |
C |
T |
5: 129,202,531 (GRCm38) |
A863V |
possibly damaging |
Het |
| Ankrd17 |
T |
C |
5: 90,283,120 (GRCm38) |
D935G |
possibly damaging |
Het |
| Ankrd7 |
T |
A |
6: 18,868,021 (GRCm38) |
N95K |
probably damaging |
Het |
| Arhgef4 |
G |
A |
1: 34,732,124 (GRCm38) |
E1171K |
possibly damaging |
Het |
| Ascc3 |
T |
C |
10: 50,711,025 (GRCm38) |
I991T |
probably damaging |
Het |
| Cacna1s |
T |
A |
1: 136,070,970 (GRCm38) |
|
probably null |
Het |
| Camk1d |
A |
T |
2: 5,354,704 (GRCm38) |
V177E |
probably benign |
Het |
| Cdh18 |
T |
A |
15: 23,226,783 (GRCm38) |
I110N |
probably damaging |
Het |
| Cenpe |
A |
G |
3: 135,247,000 (GRCm38) |
K1484E |
probably benign |
Het |
| Cep68 |
A |
G |
11: 20,239,333 (GRCm38) |
S560P |
probably benign |
Het |
| Cog3 |
G |
T |
14: 75,732,951 (GRCm38) |
T352K |
probably benign |
Het |
| Cox6a2 |
A |
G |
7: 128,205,980 (GRCm38) |
S44P |
possibly damaging |
Het |
| Csmd2 |
T |
C |
4: 128,369,088 (GRCm38) |
V689A |
probably benign |
Het |
| Ddx60 |
A |
T |
8: 62,023,261 (GRCm38) |
M1548L |
possibly damaging |
Het |
| Dennd5b |
G |
T |
6: 149,016,984 (GRCm38) |
|
silent |
Het |
| Dlgap2 |
T |
C |
8: 14,846,679 (GRCm38) |
Y1052H |
probably damaging |
Het |
| Dnaaf5 |
T |
A |
5: 139,184,685 (GRCm38) |
D502E |
probably damaging |
Het |
| Efhb |
C |
A |
17: 53,426,275 (GRCm38) |
A523S |
probably damaging |
Het |
| Fanca |
C |
T |
8: 123,274,338 (GRCm38) |
|
probably null |
Het |
| Fbxw7 |
G |
A |
3: 84,967,545 (GRCm38) |
E205K |
probably benign |
Het |
| Fer1l6 |
C |
T |
15: 58,640,226 (GRCm38) |
T1514I |
probably damaging |
Het |
| Gm12886 |
T |
C |
4: 121,416,683 (GRCm38) |
E112G |
probably damaging |
Het |
| Gm7535 |
T |
C |
17: 17,911,083 (GRCm38) |
|
probably benign |
Het |
| Irf2bp2 |
T |
A |
8: 126,591,255 (GRCm38) |
Q524L |
probably damaging |
Het |
| Itih4 |
A |
G |
14: 30,900,968 (GRCm38) |
D864G |
probably benign |
Het |
| Kdm4c |
T |
G |
4: 74,357,339 (GRCm38) |
|
probably null |
Het |
| Ltn1 |
A |
T |
16: 87,402,024 (GRCm38) |
|
probably null |
Het |
| Mafa |
G |
T |
15: 75,747,736 (GRCm38) |
P63T |
unknown |
Het |
| Mars2 |
T |
A |
1: 55,237,862 (GRCm38) |
L208H |
probably damaging |
Het |
| Myom2 |
A |
G |
8: 15,106,459 (GRCm38) |
I769V |
probably benign |
Het |
| Nyap1 |
A |
G |
5: 137,736,022 (GRCm38) |
S250P |
probably damaging |
Het |
| Olfr1082 |
A |
T |
2: 86,594,228 (GRCm38) |
M200K |
probably benign |
Het |
| Osmr |
C |
T |
15: 6,842,894 (GRCm38) |
V240I |
probably benign |
Het |
| Pcdhga3 |
A |
G |
18: 37,676,881 (GRCm38) |
T796A |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,675,505 (GRCm38) |
V1459A |
unknown |
Het |
| Phactr3 |
A |
C |
2: 178,283,172 (GRCm38) |
H300P |
probably damaging |
Het |
| Pla2g4e |
T |
G |
2: 120,186,382 (GRCm38) |
H226P |
possibly damaging |
Het |
| Plcd4 |
T |
A |
1: 74,548,224 (GRCm38) |
W48R |
probably damaging |
Het |
| Prdm16 |
A |
G |
4: 154,323,353 (GRCm38) |
S1140P |
probably damaging |
Het |
| Rarg |
A |
C |
15: 102,252,551 (GRCm38) |
S18A |
possibly damaging |
Het |
| Rfx4 |
T |
A |
10: 84,844,300 (GRCm38) |
S114T |
possibly damaging |
Het |
| Sec14l4 |
G |
A |
11: 4,043,375 (GRCm38) |
|
probably null |
Het |
| Six1 |
T |
G |
12: 73,045,934 (GRCm38) |
T165P |
probably benign |
Het |
| Skint4 |
T |
C |
4: 112,087,042 (GRCm38) |
L17P |
probably damaging |
Het |
| Slc25a23 |
T |
A |
17: 57,052,740 (GRCm38) |
Y337F |
probably damaging |
Het |
| Slc9a3 |
A |
G |
13: 74,164,165 (GRCm38) |
Y627C |
probably damaging |
Het |
| Smu1 |
A |
C |
4: 40,737,401 (GRCm38) |
|
probably null |
Het |
| Spryd3 |
A |
G |
15: 102,130,364 (GRCm38) |
S141P |
probably damaging |
Het |
| Src |
A |
T |
2: 157,463,038 (GRCm38) |
N175I |
probably damaging |
Het |
| Srcap |
GCTCCTCCTCCTCCTCCT |
GCTCCTCCTCCTCCT |
7: 127,558,310 (GRCm38) |
|
probably benign |
Het |
| Stc2 |
A |
G |
11: 31,365,326 (GRCm38) |
|
probably null |
Het |
| Taf6l |
T |
C |
19: 8,778,208 (GRCm38) |
D261G |
probably damaging |
Het |
| Tal1 |
T |
G |
4: 115,064,722 (GRCm38) |
V167G |
probably damaging |
Het |
| Tfec |
G |
A |
6: 16,834,125 (GRCm38) |
T261I |
probably damaging |
Het |
| Tgfb1 |
G |
T |
7: 25,697,230 (GRCm38) |
S273I |
possibly damaging |
Het |
| Tmem8b |
T |
A |
4: 43,685,760 (GRCm38) |
V636E |
probably damaging |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Trappc11 |
A |
T |
8: 47,493,345 (GRCm38) |
M1084K |
probably damaging |
Het |
| Trem3 |
A |
C |
17: 48,249,611 (GRCm38) |
T37P |
possibly damaging |
Het |
| Ttc7b |
G |
A |
12: 100,500,117 (GRCm38) |
R79C |
probably damaging |
Het |
| Urb1 |
T |
C |
16: 90,788,146 (GRCm38) |
D529G |
probably benign |
Het |
| Vmn2r8 |
T |
A |
5: 108,801,704 (GRCm38) |
T426S |
probably benign |
Het |
| Yipf4 |
T |
C |
17: 74,499,094 (GRCm38) |
Y243H |
probably benign |
Het |
| Zfp574 |
T |
A |
7: 25,081,313 (GRCm38) |
C587S |
probably damaging |
Het |
| Zfp93 |
C |
A |
7: 24,275,668 (GRCm38) |
H359Q |
probably damaging |
Het |
| Znfx1 |
T |
C |
2: 167,050,316 (GRCm38) |
E660G |
probably damaging |
Het |
|
| Other mutations in Epha8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00946:Epha8
|
APN |
4 |
136,945,810 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00960:Epha8
|
APN |
4 |
136,951,839 (GRCm38) |
splice site |
probably null |
|
|
IGL01124:Epha8
|
APN |
4 |
136,936,083 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01550:Epha8
|
APN |
4 |
136,931,740 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
IGL01807:Epha8
|
APN |
4 |
136,931,682 (GRCm38) |
missense |
probably benign |
0.08 |
|
IGL01844:Epha8
|
APN |
4 |
136,931,049 (GRCm38) |
makesense |
probably null |
|
|
IGL02167:Epha8
|
APN |
4 |
136,931,094 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0255:Epha8
|
UTSW |
4 |
136,940,286 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0445:Epha8
|
UTSW |
4 |
136,932,400 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1757:Epha8
|
UTSW |
4 |
136,931,478 (GRCm38) |
splice site |
probably null |
|
|
R1911:Epha8
|
UTSW |
4 |
136,936,314 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1936:Epha8
|
UTSW |
4 |
136,940,243 (GRCm38) |
missense |
probably benign |
0.08 |
|
R2291:Epha8
|
UTSW |
4 |
136,933,347 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2359:Epha8
|
UTSW |
4 |
136,946,032 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2372:Epha8
|
UTSW |
4 |
136,933,010 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4747:Epha8
|
UTSW |
4 |
136,938,695 (GRCm38) |
frame shift |
probably null |
|
|
R4784:Epha8
|
UTSW |
4 |
136,933,322 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5156:Epha8
|
UTSW |
4 |
136,938,726 (GRCm38) |
missense |
probably benign |
0.14 |
|
R5164:Epha8
|
UTSW |
4 |
136,945,672 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R5335:Epha8
|
UTSW |
4 |
136,931,935 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5480:Epha8
|
UTSW |
4 |
136,935,130 (GRCm38) |
missense |
probably benign |
|
|
R5552:Epha8
|
UTSW |
4 |
136,931,899 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5830:Epha8
|
UTSW |
4 |
136,936,390 (GRCm38) |
nonsense |
probably null |
|
|
R6017:Epha8
|
UTSW |
4 |
136,931,743 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6450:Epha8
|
UTSW |
4 |
136,931,899 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6798:Epha8
|
UTSW |
4 |
136,945,669 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6799:Epha8
|
UTSW |
4 |
136,945,669 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7060:Epha8
|
UTSW |
4 |
136,931,158 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7297:Epha8
|
UTSW |
4 |
136,945,913 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7344:Epha8
|
UTSW |
4 |
136,934,538 (GRCm38) |
missense |
probably benign |
0.14 |
|
R7467:Epha8
|
UTSW |
4 |
136,931,088 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R7563:Epha8
|
UTSW |
4 |
136,938,789 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R7826:Epha8
|
UTSW |
4 |
136,936,187 (GRCm38) |
missense |
probably benign |
0.09 |
|
R7845:Epha8
|
UTSW |
4 |
136,936,401 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7863:Epha8
|
UTSW |
4 |
136,933,655 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7904:Epha8
|
UTSW |
4 |
136,931,739 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7918:Epha8
|
UTSW |
4 |
136,934,566 (GRCm38) |
missense |
probably benign |
0.12 |
|
R8177:Epha8
|
UTSW |
4 |
136,945,663 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8244:Epha8
|
UTSW |
4 |
136,938,586 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8266:Epha8
|
UTSW |
4 |
136,938,586 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8268:Epha8
|
UTSW |
4 |
136,938,586 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8269:Epha8
|
UTSW |
4 |
136,938,586 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8289:Epha8
|
UTSW |
4 |
136,938,586 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8290:Epha8
|
UTSW |
4 |
136,938,586 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8294:Epha8
|
UTSW |
4 |
136,938,586 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8295:Epha8
|
UTSW |
4 |
136,938,586 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8299:Epha8
|
UTSW |
4 |
136,938,586 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8445:Epha8
|
UTSW |
4 |
136,932,289 (GRCm38) |
missense |
probably benign |
0.13 |
|
R8889:Epha8
|
UTSW |
4 |
136,934,539 (GRCm38) |
missense |
probably benign |
0.45 |
|
R8892:Epha8
|
UTSW |
4 |
136,934,539 (GRCm38) |
missense |
probably benign |
0.45 |
|
R8928:Epha8
|
UTSW |
4 |
136,938,586 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8965:Epha8
|
UTSW |
4 |
136,938,586 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8983:Epha8
|
UTSW |
4 |
136,938,586 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8984:Epha8
|
UTSW |
4 |
136,938,586 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8988:Epha8
|
UTSW |
4 |
136,938,586 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9081:Epha8
|
UTSW |
4 |
136,938,586 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9231:Epha8
|
UTSW |
4 |
136,945,915 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9262:Epha8
|
UTSW |
4 |
136,931,684 (GRCm38) |
missense |
probably benign |
|
|
R9370:Epha8
|
UTSW |
4 |
136,946,200 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R9466:Epha8
|
UTSW |
4 |
136,935,103 (GRCm38) |
missense |
probably benign |
|
|
R9478:Epha8
|
UTSW |
4 |
136,938,586 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9546:Epha8
|
UTSW |
4 |
136,938,586 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9547:Epha8
|
UTSW |
4 |
136,938,586 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9550:Epha8
|
UTSW |
4 |
136,938,586 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9585:Epha8
|
UTSW |
4 |
136,938,586 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9624:Epha8
|
UTSW |
4 |
136,931,754 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9686:Epha8
|
UTSW |
4 |
136,938,586 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9687:Epha8
|
UTSW |
4 |
136,938,586 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9690:Epha8
|
UTSW |
4 |
136,938,586 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9744:Epha8
|
UTSW |
4 |
136,938,586 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9763:Epha8
|
UTSW |
4 |
136,938,586 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9794:Epha8
|
UTSW |
4 |
136,938,724 (GRCm38) |
missense |
probably benign |
0.16 |
|
RF025:Epha8
|
UTSW |
4 |
136,933,037 (GRCm38) |
critical splice acceptor site |
probably benign |
|
|
RF054:Epha8
|
UTSW |
4 |
136,933,037 (GRCm38) |
critical splice acceptor site |
probably benign |
|
|
Z1176:Epha8
|
UTSW |
4 |
136,938,696 (GRCm38) |
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 |
Incidental Mutation