Incidental Mutation 'R7826:Epha8'
| ID |
602175 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epha8
|
| Ensembl Gene |
ENSMUSG00000028661 |
| Gene Name |
Eph receptor A8 |
| Synonyms |
Eek, Hek3, EphA8 |
| MMRRC Submission |
045880-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7826 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
136656730-136684127 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 136663498 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 483
(M483I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030420
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030420]
|
| AlphaFold |
O09127 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030420
AA Change: M483I
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000030420
Gene: ENSMUSG00000028661
AA Change: M483I
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (60/60) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ajm1 |
C |
A |
2: 25,468,477 (GRCm39) |
R478L |
possibly damaging |
Het |
| Arhgap27 |
T |
C |
11: 103,229,153 (GRCm39) |
T521A |
probably benign |
Het |
| Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
| Btbd9 |
A |
T |
17: 30,553,301 (GRCm39) |
I387N |
probably benign |
Het |
| Ccdc27 |
C |
T |
4: 154,123,958 (GRCm39) |
|
probably null |
Het |
| Ccdc88a |
A |
T |
11: 29,453,563 (GRCm39) |
H1642L |
probably benign |
Het |
| Cd300c2 |
C |
T |
11: 114,891,644 (GRCm39) |
V77I |
possibly damaging |
Het |
| Chrnb2 |
A |
T |
3: 89,670,550 (GRCm39) |
S63T |
probably damaging |
Het |
| Dlgap2 |
C |
T |
8: 14,793,410 (GRCm39) |
P467L |
probably benign |
Het |
| Dnah5 |
C |
T |
15: 28,367,958 (GRCm39) |
T2781M |
probably damaging |
Het |
| Donson |
T |
C |
16: 91,485,344 (GRCm39) |
D86G |
possibly damaging |
Het |
| Echs1 |
T |
A |
7: 139,696,349 (GRCm39) |
|
probably benign |
Het |
| Eprs1 |
T |
G |
1: 185,139,165 (GRCm39) |
V850G |
probably damaging |
Het |
| Fbxw5 |
C |
A |
2: 25,392,561 (GRCm39) |
C114* |
probably null |
Het |
| Gm5160 |
C |
T |
18: 14,558,129 (GRCm39) |
R69C |
probably benign |
Het |
| Gpr75 |
A |
G |
11: 30,841,209 (GRCm39) |
H38R |
probably damaging |
Het |
| Igsf9 |
T |
C |
1: 172,319,197 (GRCm39) |
V230A |
probably benign |
Het |
| Lonp2 |
C |
T |
8: 87,435,641 (GRCm39) |
P626S |
probably damaging |
Het |
| Lrrtm1 |
G |
T |
6: 77,221,095 (GRCm39) |
|
probably null |
Het |
| Man1a2 |
T |
C |
3: 100,489,455 (GRCm39) |
E508G |
probably damaging |
Het |
| Mipep |
C |
A |
14: 61,039,580 (GRCm39) |
A203E |
probably damaging |
Het |
| Mrc1 |
T |
A |
2: 14,299,668 (GRCm39) |
C753S |
probably damaging |
Het |
| Mthfr |
A |
G |
4: 148,139,467 (GRCm39) |
E568G |
probably benign |
Het |
| Naca |
T |
A |
10: 127,879,479 (GRCm39) |
|
probably benign |
Het |
| Nek10 |
G |
A |
14: 14,860,846 (GRCm38) |
|
probably null |
Het |
| Nf2 |
T |
C |
11: 4,739,750 (GRCm39) |
T419A |
probably benign |
Het |
| Npas3 |
A |
G |
12: 53,878,539 (GRCm39) |
T164A |
possibly damaging |
Het |
| Nudcd3 |
T |
A |
11: 6,100,581 (GRCm39) |
I124F |
possibly damaging |
Het |
| Or8g33 |
A |
G |
9: 39,337,423 (GRCm39) |
*315Q |
probably null |
Het |
| Pappa2 |
A |
T |
1: 158,764,010 (GRCm39) |
C500* |
probably null |
Het |
| Pcdhb18 |
T |
A |
18: 37,623,995 (GRCm39) |
S442T |
probably damaging |
Het |
| Phactr4 |
T |
C |
4: 132,105,752 (GRCm39) |
N105D |
possibly damaging |
Het |
| Polr1b |
C |
A |
2: 128,967,464 (GRCm39) |
F952L |
probably damaging |
Het |
| Ptprb |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
10: 116,119,582 (GRCm39) |
|
probably benign |
Het |
| Pzp |
T |
C |
6: 128,464,496 (GRCm39) |
T1344A |
probably benign |
Het |
| Ranbp9 |
T |
C |
13: 43,573,097 (GRCm39) |
I312V |
possibly damaging |
Het |
| Rsf1 |
A |
G |
7: 97,310,368 (GRCm39) |
|
probably benign |
Het |
| Slc6a4 |
A |
T |
11: 76,903,851 (GRCm39) |
I150L |
probably benign |
Het |
| Smpd5 |
T |
C |
15: 76,180,496 (GRCm39) |
S433P |
probably benign |
Het |
| Spats1 |
C |
T |
17: 45,763,644 (GRCm39) |
D209N |
probably damaging |
Het |
| Spcs2 |
C |
T |
7: 99,488,984 (GRCm39) |
G235R |
probably damaging |
Het |
| Sptlc3 |
T |
C |
2: 139,389,115 (GRCm39) |
M165T |
probably benign |
Het |
| Synm |
T |
C |
7: 67,385,337 (GRCm39) |
D775G |
probably damaging |
Het |
| Tango6 |
A |
G |
8: 107,419,245 (GRCm39) |
D264G |
probably benign |
Het |
| Tbc1d30 |
A |
T |
10: 121,132,710 (GRCm39) |
L218H |
probably damaging |
Het |
| Tmem132d |
A |
G |
5: 127,866,953 (GRCm39) |
I649T |
probably damaging |
Het |
| Tmem145 |
T |
C |
7: 25,006,939 (GRCm39) |
Y114H |
probably damaging |
Het |
| Triml1 |
A |
T |
8: 43,591,803 (GRCm39) |
V185E |
possibly damaging |
Het |
| Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
G |
2: 76,715,220 (GRCm39) |
|
probably benign |
Het |
| Utrn |
C |
T |
10: 12,277,050 (GRCm39) |
|
probably null |
Het |
| Uty |
T |
C |
Y: 1,137,716 (GRCm39) |
K887E |
possibly damaging |
Het |
| Zfand2b |
T |
C |
1: 75,145,502 (GRCm39) |
F3L |
possibly damaging |
Het |
| Zfp280d |
C |
A |
9: 72,219,953 (GRCm39) |
Q243K |
possibly damaging |
Het |
| Zfp418 |
T |
C |
7: 7,185,668 (GRCm39) |
F544L |
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 |
|
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'- CCAGGTATGGTTTCTCCCTG -3'
(R):5'- TGTCTTGGTGTAGAAACAGGAG -3'
Sequencing Primer
(F):5'- TCTCACCAGTGGGGCTTCTAG -3'
(R):5'- AGACCAGCGTGTCACTCCTG -3'
|
| Posted On |
2019-12-03 |
Incidental Mutation