Incidental Mutation 'R1681:Epha3'
ID |
188552 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Epha3
|
Ensembl Gene |
ENSMUSG00000052504 |
Gene Name |
Eph receptor A3 |
Synonyms |
End3, Tyro4, Cek4, Hek, Hek4, Mek4 |
MMRRC Submission |
039717-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.273)
|
Stock # |
R1681 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
63363897-63684538 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 63416091 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 635
(V635A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155946
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064405]
[ENSMUST00000232049]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000064405
AA Change: V636A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000066554 Gene: ENSMUSG00000052504 AA Change: V636A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
EPH_lbd
|
29 |
202 |
1.76e-127 |
SMART |
Pfam:GCC2_GCC3
|
263 |
306 |
6.6e-9 |
PFAM |
FN3
|
326 |
418 |
1.14e-5 |
SMART |
FN3
|
437 |
518 |
4.8e-13 |
SMART |
Pfam:EphA2_TM
|
543 |
619 |
8.2e-25 |
PFAM |
TyrKc
|
622 |
879 |
5.16e-140 |
SMART |
SAM
|
909 |
976 |
1.08e-13 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000232049
AA Change: V635A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 93.6%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to 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. This gene encodes a protein that binds ephrin-A ligands. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for disruptions in this gene usually die within 48 hours of birth of cardiac failure. Survivors develop normally with no indications of cardiac abnormalities. [provided by MGI curators]
|
Allele List at MGI |
All alleles(3) : Targeted, knock-out(1) Gene trapped(2) |
Other mutations in this stock |
Total: 87 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
T |
A |
11: 84,117,011 (GRCm39) |
I247N |
probably damaging |
Het |
Ankle1 |
G |
T |
8: 71,860,262 (GRCm39) |
S260I |
probably benign |
Het |
Aoc2 |
T |
C |
11: 101,216,018 (GRCm39) |
S34P |
probably benign |
Het |
Ap1m1 |
A |
C |
8: 73,009,966 (GRCm39) |
I397L |
possibly damaging |
Het |
Apba1 |
C |
A |
19: 23,913,925 (GRCm39) |
D649E |
probably damaging |
Het |
Aptx |
C |
T |
4: 40,697,274 (GRCm39) |
V25M |
probably benign |
Het |
Arhgef18 |
G |
A |
8: 3,489,645 (GRCm39) |
G326R |
probably damaging |
Het |
Atm |
A |
C |
9: 53,433,455 (GRCm39) |
I265S |
possibly damaging |
Het |
B3galt4 |
A |
T |
17: 34,170,187 (GRCm39) |
V17E |
probably benign |
Het |
Bcl7a |
T |
A |
5: 123,494,086 (GRCm39) |
M86K |
possibly damaging |
Het |
Calhm6 |
A |
G |
10: 34,003,896 (GRCm39) |
F4L |
probably benign |
Het |
Cela3a |
T |
A |
4: 137,129,995 (GRCm39) |
|
probably null |
Het |
Cep85 |
T |
A |
4: 133,876,039 (GRCm39) |
K456* |
probably null |
Het |
Ces1f |
C |
A |
8: 94,002,042 (GRCm39) |
A29S |
probably benign |
Het |
Chd9 |
A |
T |
8: 91,699,763 (GRCm39) |
I598F |
probably damaging |
Het |
Cntln |
T |
C |
4: 84,865,872 (GRCm39) |
L176S |
probably damaging |
Het |
Cntn3 |
A |
T |
6: 102,147,629 (GRCm39) |
N909K |
probably damaging |
Het |
Cntnap5b |
T |
C |
1: 100,003,832 (GRCm39) |
S271P |
probably damaging |
Het |
Col6a3 |
T |
A |
1: 90,701,224 (GRCm39) |
H2564L |
unknown |
Het |
Cyp2b19 |
C |
A |
7: 26,462,765 (GRCm39) |
|
probably null |
Het |
Dapk1 |
G |
T |
13: 60,866,278 (GRCm39) |
|
probably null |
Het |
Dnah7b |
T |
A |
1: 46,363,872 (GRCm39) |
Y3497* |
probably null |
Het |
Duoxa2 |
T |
C |
2: 122,129,643 (GRCm39) |
|
probably null |
Het |
Eny2 |
T |
C |
15: 44,295,874 (GRCm39) |
W42R |
probably damaging |
Het |
Fam167b |
G |
C |
4: 129,472,069 (GRCm39) |
Q34E |
probably benign |
Het |
Fancm |
T |
C |
12: 65,152,430 (GRCm39) |
M962T |
probably benign |
Het |
Gimap8 |
T |
A |
6: 48,633,345 (GRCm39) |
I388N |
probably benign |
Het |
Gpaa1 |
A |
G |
15: 76,215,653 (GRCm39) |
T22A |
probably benign |
Het |
Hoxc11 |
T |
C |
15: 102,863,591 (GRCm39) |
S211P |
possibly damaging |
Het |
Hsd17b12 |
T |
C |
2: 93,863,906 (GRCm39) |
N312S |
unknown |
Het |
Idh2 |
T |
G |
7: 79,748,906 (GRCm39) |
E125A |
probably damaging |
Het |
Igdcc4 |
A |
G |
9: 65,036,077 (GRCm39) |
Y712C |
probably damaging |
Het |
Kank1 |
T |
C |
19: 25,387,668 (GRCm39) |
V447A |
possibly damaging |
Het |
Kif1b |
T |
A |
4: 149,279,958 (GRCm39) |
|
probably null |
Het |
Klc4 |
A |
T |
17: 46,947,696 (GRCm39) |
D335E |
probably damaging |
Het |
Klhl33 |
T |
A |
14: 51,130,534 (GRCm39) |
D320V |
probably benign |
Het |
Krt73 |
A |
T |
15: 101,710,482 (GRCm39) |
M84K |
possibly damaging |
Het |
Kti12 |
T |
A |
4: 108,706,055 (GRCm39) |
I323N |
probably damaging |
Het |
Kynu |
T |
C |
2: 43,569,837 (GRCm39) |
L373P |
probably damaging |
Het |
Lats1 |
T |
C |
10: 7,581,678 (GRCm39) |
M821T |
probably damaging |
Het |
Lnx1 |
A |
T |
5: 74,846,071 (GRCm39) |
H126Q |
probably benign |
Het |
Lonrf2 |
G |
A |
1: 38,852,357 (GRCm39) |
P165S |
probably benign |
Het |
Lrrc4b |
T |
A |
7: 44,110,601 (GRCm39) |
Y158N |
probably damaging |
Het |
Lrrc74b |
C |
A |
16: 17,377,617 (GRCm39) |
R87L |
probably damaging |
Het |
Meig1 |
T |
C |
2: 3,410,311 (GRCm39) |
D63G |
probably damaging |
Het |
Mrpl38 |
G |
A |
11: 116,029,255 (GRCm39) |
|
probably benign |
Het |
Mtcl2 |
T |
C |
2: 156,872,450 (GRCm39) |
T966A |
possibly damaging |
Het |
Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
Nlrp1a |
T |
A |
11: 71,033,184 (GRCm39) |
E3D |
unknown |
Het |
Nphs2 |
T |
A |
1: 156,148,468 (GRCm39) |
D110E |
probably damaging |
Het |
Nxn |
T |
A |
11: 76,163,290 (GRCm39) |
K244N |
probably benign |
Het |
Oas3 |
A |
T |
5: 120,907,973 (GRCm39) |
F322L |
probably benign |
Het |
Obscn |
T |
A |
11: 58,994,151 (GRCm39) |
Y1577F |
probably damaging |
Het |
Or10ag57 |
G |
A |
2: 87,218,964 (GRCm39) |
R305K |
possibly damaging |
Het |
Or8b47 |
T |
A |
9: 38,435,413 (GRCm39) |
N128K |
probably benign |
Het |
Or8b50 |
G |
A |
9: 38,518,244 (GRCm39) |
G161D |
probably damaging |
Het |
Or8b52 |
A |
G |
9: 38,576,616 (GRCm39) |
Y175H |
probably benign |
Het |
Or8d2 |
T |
C |
9: 38,759,809 (GRCm39) |
M133T |
probably damaging |
Het |
Panx1 |
T |
C |
9: 14,919,079 (GRCm39) |
D260G |
probably benign |
Het |
Pcdhb15 |
T |
C |
18: 37,606,866 (GRCm39) |
Y33H |
probably damaging |
Het |
Pik3ap1 |
C |
A |
19: 41,296,968 (GRCm39) |
V461F |
probably damaging |
Het |
Plpp3 |
G |
A |
4: 105,066,002 (GRCm39) |
|
probably null |
Het |
Prtn3 |
A |
T |
10: 79,716,375 (GRCm39) |
T61S |
probably benign |
Het |
Psen1 |
T |
A |
12: 83,771,394 (GRCm39) |
Y225N |
probably damaging |
Het |
Rab44 |
T |
A |
17: 29,359,098 (GRCm39) |
S429T |
possibly damaging |
Het |
Ralgapa1 |
T |
C |
12: 55,809,388 (GRCm39) |
I462M |
probably benign |
Het |
Rbfox3 |
T |
C |
11: 118,396,495 (GRCm39) |
N105S |
probably damaging |
Het |
Rbm7 |
A |
C |
9: 48,401,021 (GRCm39) |
Y236D |
possibly damaging |
Het |
Samhd1 |
T |
C |
2: 156,943,652 (GRCm39) |
T621A |
probably benign |
Het |
Samt3 |
C |
A |
X: 85,090,256 (GRCm39) |
D49E |
probably benign |
Het |
Sass6 |
T |
C |
3: 116,397,122 (GRCm39) |
V26A |
possibly damaging |
Het |
Scn11a |
C |
T |
9: 119,633,478 (GRCm39) |
M418I |
possibly damaging |
Het |
Scrib |
T |
C |
15: 75,936,416 (GRCm39) |
E480G |
probably damaging |
Het |
Sec24a |
T |
G |
11: 51,586,016 (GRCm39) |
T1071P |
probably damaging |
Het |
Siglecg |
A |
C |
7: 43,058,365 (GRCm39) |
E84A |
probably benign |
Het |
Slc6a17 |
C |
T |
3: 107,381,702 (GRCm39) |
V419I |
probably damaging |
Het |
Ssr2 |
T |
C |
3: 88,488,349 (GRCm39) |
M75T |
possibly damaging |
Het |
Tbc1d22b |
A |
G |
17: 29,794,151 (GRCm39) |
T275A |
possibly damaging |
Het |
Tbx15 |
T |
A |
3: 99,259,140 (GRCm39) |
|
probably null |
Het |
Tll1 |
A |
C |
8: 64,538,585 (GRCm39) |
L353R |
possibly damaging |
Het |
Tlr4 |
C |
T |
4: 66,759,342 (GRCm39) |
P712S |
probably damaging |
Het |
Tmem145 |
T |
A |
7: 25,014,159 (GRCm39) |
F424L |
possibly damaging |
Het |
Tnrc18 |
T |
C |
5: 142,759,572 (GRCm39) |
K755E |
unknown |
Het |
Trmt44 |
A |
G |
5: 35,727,321 (GRCm39) |
I298T |
probably benign |
Het |
Vmn1r69 |
A |
G |
7: 10,314,179 (GRCm39) |
V184A |
probably benign |
Het |
Zfp84 |
T |
C |
7: 29,476,825 (GRCm39) |
C506R |
probably damaging |
Het |
|
Other mutations in Epha3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00773:Epha3
|
APN |
16 |
63,387,047 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01358:Epha3
|
APN |
16 |
63,416,109 (GRCm39) |
splice site |
probably benign |
|
IGL01713:Epha3
|
APN |
16 |
63,372,925 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02371:Epha3
|
APN |
16 |
63,405,383 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL03111:Epha3
|
APN |
16 |
63,473,809 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03208:Epha3
|
APN |
16 |
63,431,452 (GRCm39) |
missense |
probably damaging |
1.00 |
laterality
|
UTSW |
16 |
63,388,762 (GRCm39) |
missense |
probably damaging |
1.00 |
midline
|
UTSW |
16 |
63,664,507 (GRCm39) |
missense |
possibly damaging |
0.46 |
stride
|
UTSW |
16 |
63,372,857 (GRCm39) |
missense |
probably benign |
0.00 |
F2404:Epha3
|
UTSW |
16 |
63,366,531 (GRCm39) |
missense |
probably benign |
0.14 |
P0041:Epha3
|
UTSW |
16 |
63,433,231 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4498001:Epha3
|
UTSW |
16 |
63,372,889 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4585001:Epha3
|
UTSW |
16 |
63,386,940 (GRCm39) |
critical splice donor site |
probably null |
|
R0147:Epha3
|
UTSW |
16 |
63,433,307 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0148:Epha3
|
UTSW |
16 |
63,433,307 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0336:Epha3
|
UTSW |
16 |
63,387,011 (GRCm39) |
missense |
probably damaging |
1.00 |
R0738:Epha3
|
UTSW |
16 |
63,415,975 (GRCm39) |
missense |
probably damaging |
1.00 |
R0833:Epha3
|
UTSW |
16 |
63,423,882 (GRCm39) |
splice site |
probably benign |
|
R0836:Epha3
|
UTSW |
16 |
63,423,882 (GRCm39) |
splice site |
probably benign |
|
R0969:Epha3
|
UTSW |
16 |
63,386,999 (GRCm39) |
missense |
probably damaging |
1.00 |
R1160:Epha3
|
UTSW |
16 |
63,593,431 (GRCm39) |
missense |
probably damaging |
1.00 |
R1205:Epha3
|
UTSW |
16 |
63,418,611 (GRCm39) |
frame shift |
probably null |
|
R1349:Epha3
|
UTSW |
16 |
63,431,416 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1372:Epha3
|
UTSW |
16 |
63,431,416 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1469:Epha3
|
UTSW |
16 |
63,473,857 (GRCm39) |
missense |
probably damaging |
0.97 |
R1469:Epha3
|
UTSW |
16 |
63,473,857 (GRCm39) |
missense |
probably damaging |
0.97 |
R1500:Epha3
|
UTSW |
16 |
63,416,025 (GRCm39) |
missense |
probably benign |
0.06 |
R1523:Epha3
|
UTSW |
16 |
63,431,311 (GRCm39) |
missense |
probably damaging |
0.99 |
R1532:Epha3
|
UTSW |
16 |
63,366,541 (GRCm39) |
missense |
probably benign |
0.08 |
R1544:Epha3
|
UTSW |
16 |
63,593,416 (GRCm39) |
missense |
probably damaging |
1.00 |
R1708:Epha3
|
UTSW |
16 |
63,403,870 (GRCm39) |
missense |
probably damaging |
1.00 |
R1803:Epha3
|
UTSW |
16 |
63,422,651 (GRCm39) |
missense |
probably benign |
0.00 |
R1893:Epha3
|
UTSW |
16 |
63,388,762 (GRCm39) |
missense |
probably damaging |
1.00 |
R1957:Epha3
|
UTSW |
16 |
63,593,315 (GRCm39) |
missense |
probably benign |
0.00 |
R2144:Epha3
|
UTSW |
16 |
63,593,680 (GRCm39) |
missense |
possibly damaging |
0.86 |
R2190:Epha3
|
UTSW |
16 |
63,366,552 (GRCm39) |
missense |
probably benign |
0.05 |
R2198:Epha3
|
UTSW |
16 |
63,664,507 (GRCm39) |
missense |
possibly damaging |
0.46 |
R2344:Epha3
|
UTSW |
16 |
63,472,746 (GRCm39) |
missense |
possibly damaging |
0.67 |
R2504:Epha3
|
UTSW |
16 |
63,423,988 (GRCm39) |
missense |
probably damaging |
0.97 |
R2911:Epha3
|
UTSW |
16 |
63,472,775 (GRCm39) |
missense |
probably benign |
|
R3889:Epha3
|
UTSW |
16 |
63,431,327 (GRCm39) |
missense |
probably damaging |
1.00 |
R4223:Epha3
|
UTSW |
16 |
63,403,902 (GRCm39) |
missense |
probably damaging |
0.99 |
R4836:Epha3
|
UTSW |
16 |
63,403,920 (GRCm39) |
missense |
probably damaging |
1.00 |
R4981:Epha3
|
UTSW |
16 |
63,472,775 (GRCm39) |
missense |
probably benign |
0.04 |
R5044:Epha3
|
UTSW |
16 |
63,422,650 (GRCm39) |
missense |
possibly damaging |
0.79 |
R5195:Epha3
|
UTSW |
16 |
63,366,510 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5248:Epha3
|
UTSW |
16 |
63,418,620 (GRCm39) |
missense |
probably damaging |
1.00 |
R5478:Epha3
|
UTSW |
16 |
63,403,896 (GRCm39) |
missense |
probably damaging |
1.00 |
R6052:Epha3
|
UTSW |
16 |
63,423,967 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6167:Epha3
|
UTSW |
16 |
63,433,287 (GRCm39) |
missense |
probably benign |
0.00 |
R6337:Epha3
|
UTSW |
16 |
63,388,806 (GRCm39) |
missense |
probably damaging |
1.00 |
R6342:Epha3
|
UTSW |
16 |
63,403,863 (GRCm39) |
missense |
probably damaging |
1.00 |
R6793:Epha3
|
UTSW |
16 |
63,593,818 (GRCm39) |
missense |
probably benign |
0.01 |
R6908:Epha3
|
UTSW |
16 |
63,418,612 (GRCm39) |
missense |
probably damaging |
1.00 |
R7029:Epha3
|
UTSW |
16 |
63,593,698 (GRCm39) |
missense |
probably benign |
0.37 |
R7059:Epha3
|
UTSW |
16 |
63,388,818 (GRCm39) |
missense |
probably damaging |
1.00 |
R7175:Epha3
|
UTSW |
16 |
63,403,863 (GRCm39) |
missense |
probably damaging |
1.00 |
R7204:Epha3
|
UTSW |
16 |
63,472,695 (GRCm39) |
missense |
probably benign |
|
R7217:Epha3
|
UTSW |
16 |
63,372,857 (GRCm39) |
missense |
probably benign |
0.00 |
R7315:Epha3
|
UTSW |
16 |
63,372,972 (GRCm39) |
missense |
probably benign |
0.00 |
R7389:Epha3
|
UTSW |
16 |
63,593,347 (GRCm39) |
missense |
probably damaging |
1.00 |
R7419:Epha3
|
UTSW |
16 |
63,418,657 (GRCm39) |
missense |
probably damaging |
1.00 |
R7572:Epha3
|
UTSW |
16 |
63,431,443 (GRCm39) |
nonsense |
probably null |
|
R7667:Epha3
|
UTSW |
16 |
63,386,963 (GRCm39) |
missense |
probably benign |
0.21 |
R7686:Epha3
|
UTSW |
16 |
63,593,651 (GRCm39) |
missense |
probably damaging |
1.00 |
R7855:Epha3
|
UTSW |
16 |
63,593,923 (GRCm39) |
missense |
probably damaging |
1.00 |
R8085:Epha3
|
UTSW |
16 |
63,403,873 (GRCm39) |
missense |
probably damaging |
1.00 |
R8167:Epha3
|
UTSW |
16 |
63,388,804 (GRCm39) |
missense |
probably damaging |
1.00 |
R8260:Epha3
|
UTSW |
16 |
63,403,917 (GRCm39) |
missense |
probably damaging |
1.00 |
R8290:Epha3
|
UTSW |
16 |
63,472,859 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8298:Epha3
|
UTSW |
16 |
63,386,961 (GRCm39) |
missense |
probably benign |
0.16 |
R8350:Epha3
|
UTSW |
16 |
63,472,853 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8450:Epha3
|
UTSW |
16 |
63,472,853 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8470:Epha3
|
UTSW |
16 |
63,664,510 (GRCm39) |
missense |
probably benign |
0.00 |
R8478:Epha3
|
UTSW |
16 |
63,593,444 (GRCm39) |
missense |
probably damaging |
1.00 |
R8724:Epha3
|
UTSW |
16 |
63,403,818 (GRCm39) |
missense |
probably damaging |
1.00 |
R8862:Epha3
|
UTSW |
16 |
63,431,348 (GRCm39) |
missense |
probably benign |
|
R8921:Epha3
|
UTSW |
16 |
63,472,838 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9519:Epha3
|
UTSW |
16 |
63,472,668 (GRCm39) |
missense |
possibly damaging |
0.77 |
R9563:Epha3
|
UTSW |
16 |
63,366,510 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9795:Epha3
|
UTSW |
16 |
63,372,910 (GRCm39) |
missense |
probably benign |
0.00 |
Z1176:Epha3
|
UTSW |
16 |
63,405,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AACGCCTTCCAGTCGGATGATG -3'
(R):5'- CTCCACTTGCAGTTTCATGATGTGC -3'
Sequencing Primer
(F):5'- GATGATGTTGGGATGGTCAAAC -3'
(R):5'- catctgcctgtgtctgctc -3'
|
Posted On |
2014-05-09 |