Incidental Mutation 'R9687:Epha8'
| ID |
728900 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epha8
|
| Ensembl Gene |
ENSMUSG00000028661 |
| Gene Name |
Eph receptor A8 |
| Synonyms |
Eek, Hek3, EphA8 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9687 (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: 99.7%
- 20x: 99.1%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
A |
G |
11: 48,839,249 (GRCm39) |
L446P |
probably damaging |
Het |
| Abcc9 |
T |
C |
6: 142,578,889 (GRCm39) |
T927A |
probably benign |
Het |
| Abraxas2 |
A |
G |
7: 132,482,577 (GRCm39) |
T258A |
probably benign |
Het |
| Akna |
A |
T |
4: 63,292,674 (GRCm39) |
C1078* |
probably null |
Het |
| Arhgap24 |
T |
A |
5: 102,994,022 (GRCm39) |
F34L |
probably benign |
Het |
| Cpa5 |
C |
T |
6: 30,614,041 (GRCm39) |
T61I |
probably benign |
Het |
| Crebrf |
A |
G |
17: 26,982,601 (GRCm39) |
*654W |
probably null |
Het |
| Dchs1 |
C |
A |
7: 105,407,191 (GRCm39) |
R2134L |
probably damaging |
Het |
| Dcps |
T |
C |
9: 35,035,978 (GRCm39) |
N303D |
probably damaging |
Het |
| Ddhd1 |
C |
T |
14: 45,848,190 (GRCm39) |
E527K |
probably damaging |
Het |
| Dnah14 |
T |
A |
1: 181,425,978 (GRCm39) |
M174K |
probably benign |
Het |
| Ehd1 |
A |
G |
19: 6,348,330 (GRCm39) |
D436G |
|
Het |
| Entrep1 |
A |
G |
19: 23,957,029 (GRCm39) |
I327T |
probably damaging |
Het |
| Etv1 |
T |
C |
12: 38,911,361 (GRCm39) |
Y396H |
probably damaging |
Het |
| Fbxo11 |
A |
G |
17: 88,316,494 (GRCm39) |
I293T |
|
Het |
| Gcfc2 |
T |
A |
6: 81,918,323 (GRCm39) |
S338T |
probably damaging |
Het |
| Gm10272 |
T |
C |
10: 77,542,764 (GRCm39) |
V102A |
possibly damaging |
Het |
| Gm11110 |
T |
C |
17: 57,410,439 (GRCm39) |
T20A |
unknown |
Het |
| Gna14 |
G |
A |
19: 16,582,350 (GRCm39) |
R206Q |
|
Het |
| Gpm6a |
T |
C |
8: 55,503,209 (GRCm39) |
Y153H |
possibly damaging |
Het |
| Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
| H2-M10.6 |
G |
A |
17: 37,125,147 (GRCm39) |
V313I |
probably benign |
Het |
| Igkv8-19 |
T |
C |
6: 70,318,005 (GRCm39) |
I74V |
probably benign |
Het |
| Kif24 |
A |
G |
4: 41,428,546 (GRCm39) |
L138P |
probably damaging |
Het |
| Kif26a |
A |
G |
12: 112,143,625 (GRCm39) |
E1293G |
probably damaging |
Het |
| Lrp1 |
A |
C |
10: 127,402,562 (GRCm39) |
L2203R |
probably damaging |
Het |
| Ms4a6b |
A |
G |
19: 11,497,806 (GRCm39) |
D35G |
possibly damaging |
Het |
| Myo1h |
A |
T |
5: 114,458,769 (GRCm39) |
D184V |
|
Het |
| Ncdn |
G |
A |
4: 126,642,467 (GRCm39) |
R397W |
probably damaging |
Het |
| Ncor1 |
A |
T |
11: 62,260,193 (GRCm39) |
I519N |
possibly damaging |
Het |
| Obsl1 |
A |
G |
1: 75,479,670 (GRCm39) |
V575A |
probably damaging |
Het |
| Or2y15 |
T |
C |
11: 49,350,518 (GRCm39) |
F4S |
probably benign |
Het |
| Or5m8 |
G |
T |
2: 85,822,220 (GRCm39) |
V20L |
probably benign |
Het |
| Or7a35 |
T |
A |
10: 78,853,843 (GRCm39) |
I229N |
probably damaging |
Het |
| Osbpl5 |
A |
G |
7: 143,247,598 (GRCm39) |
Y747H |
possibly damaging |
Het |
| Pcdh18 |
T |
A |
3: 49,711,036 (GRCm39) |
D93V |
probably damaging |
Het |
| Ppef2 |
T |
A |
5: 92,386,746 (GRCm39) |
D397V |
probably benign |
Het |
| Ppfia4 |
G |
A |
1: 134,245,694 (GRCm39) |
T620I |
probably benign |
Het |
| Ppp1r9a |
T |
C |
6: 4,905,978 (GRCm39) |
S178P |
probably damaging |
Het |
| Ptchd4 |
A |
G |
17: 42,813,467 (GRCm39) |
Y456C |
probably damaging |
Het |
| Pxk |
A |
G |
14: 8,151,567 (GRCm38) |
I461V |
possibly damaging |
Het |
| Rab18 |
T |
A |
18: 6,784,622 (GRCm39) |
N104K |
probably benign |
Het |
| Sars1 |
A |
G |
3: 108,343,221 (GRCm39) |
L90P |
probably benign |
Het |
| Scaf8 |
T |
A |
17: 3,221,410 (GRCm39) |
I299N |
unknown |
Het |
| Sh3bp2 |
C |
T |
5: 34,716,977 (GRCm39) |
P463S |
probably benign |
Het |
| Slc12a3 |
A |
G |
8: 95,075,208 (GRCm39) |
N734S |
possibly damaging |
Het |
| Slc12a7 |
G |
T |
13: 73,938,796 (GRCm39) |
R191L |
probably damaging |
Het |
| Slc7a12 |
A |
G |
3: 14,545,960 (GRCm39) |
Y35C |
possibly damaging |
Het |
| Spmip2 |
G |
A |
3: 79,337,299 (GRCm39) |
D36N |
possibly damaging |
Het |
| Susd4 |
A |
G |
1: 182,722,762 (GRCm39) |
|
probably null |
Het |
| Taar7f |
G |
A |
10: 23,925,727 (GRCm39) |
R107K |
probably benign |
Het |
| Tarm1 |
T |
C |
7: 3,544,457 (GRCm39) |
T237A |
probably benign |
Het |
| Tshr |
C |
A |
12: 91,504,439 (GRCm39) |
A459E |
probably damaging |
Het |
| Tubgcp5 |
G |
T |
7: 55,475,327 (GRCm39) |
|
probably null |
Het |
| Unc13b |
T |
C |
4: 43,174,920 (GRCm39) |
V1916A |
unknown |
Het |
| Unc45b |
A |
G |
11: 82,810,562 (GRCm39) |
D274G |
probably damaging |
Het |
| Vmn1r230 |
T |
A |
17: 21,067,604 (GRCm39) |
Y264* |
probably null |
Het |
| Vmn2r109 |
G |
T |
17: 20,775,332 (GRCm39) |
Q132K |
|
Het |
| Zbtb20 |
A |
G |
16: 43,430,160 (GRCm39) |
S151G |
possibly damaging |
Het |
| Zbtb22 |
A |
C |
17: 34,136,850 (GRCm39) |
T332P |
probably damaging |
Het |
| Zc3h6 |
A |
G |
2: 128,859,281 (GRCm39) |
D1104G |
probably damaging |
Het |
| Zfp748 |
A |
G |
13: 67,690,471 (GRCm39) |
V263A |
probably benign |
Het |
| Zhx3 |
A |
C |
2: 160,623,678 (GRCm39) |
V163G |
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 |
|
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 |
|
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'- TGATGACTGCCTCTGTGTTC -3'
(R):5'- ATCACCTACAACGCAGTGTG -3'
Sequencing Primer
(F):5'- CAGACTGAGTTCTGCTTTCCTATAGG -3'
(R):5'- CAACGCAGTGTGCCGCC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation