Incidental Mutation 'R1500:Epha3'
ID |
169222 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Epha3
|
Ensembl Gene |
ENSMUSG00000052504 |
Gene Name |
Eph receptor A3 |
Synonyms |
End3, Tyro4, Cek4, Hek, Hek4, Mek4 |
MMRRC Submission |
039551-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.225)
|
Stock # |
R1500 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
63363897-63684538 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 63416025 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 658
(V658E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066554
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064405]
[ENSMUST00000232049]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000064405
AA Change: V658E
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000066554 Gene: ENSMUSG00000052504 AA Change: V658E
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 benign
Transcript: ENSMUST00000232049
AA Change: V657E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.7%
- 20x: 87.1%
|
Validation Efficiency |
95% (81/85) |
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: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg1 |
A |
G |
17: 31,330,253 (GRCm39) |
D518G |
probably benign |
Het |
Acaca |
T |
A |
11: 84,184,810 (GRCm39) |
D96E |
probably benign |
Het |
Actbl2 |
G |
A |
13: 111,391,854 (GRCm39) |
R63Q |
probably damaging |
Het |
Adamts6 |
T |
A |
13: 104,449,389 (GRCm39) |
H266Q |
probably damaging |
Het |
Aff4 |
T |
C |
11: 53,263,205 (GRCm39) |
V75A |
probably benign |
Het |
Ank2 |
A |
G |
3: 126,726,631 (GRCm39) |
S888P |
probably benign |
Het |
Ano7 |
T |
C |
1: 93,325,050 (GRCm39) |
F534S |
probably damaging |
Het |
Arhgef6 |
T |
C |
X: 56,383,922 (GRCm39) |
M5V |
probably benign |
Het |
Bcam |
T |
A |
7: 19,492,889 (GRCm39) |
D484V |
possibly damaging |
Het |
Bltp2 |
C |
A |
11: 78,174,958 (GRCm39) |
Q1698K |
possibly damaging |
Het |
Ccdc88a |
T |
C |
11: 29,432,713 (GRCm39) |
Y1240H |
probably benign |
Het |
Cfh |
T |
C |
1: 140,028,614 (GRCm39) |
Y500C |
probably damaging |
Het |
Chd1l |
G |
A |
3: 97,490,121 (GRCm39) |
A478V |
probably benign |
Het |
Dnah1 |
T |
C |
14: 31,038,715 (GRCm39) |
D122G |
probably benign |
Het |
Dnah11 |
A |
T |
12: 117,976,564 (GRCm39) |
|
probably null |
Het |
Dnah17 |
T |
C |
11: 117,991,879 (GRCm39) |
K1230E |
probably benign |
Het |
Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
E330020D12Rik |
A |
T |
1: 153,284,125 (GRCm39) |
|
noncoding transcript |
Het |
Ece2 |
T |
C |
16: 20,462,992 (GRCm39) |
L639P |
probably damaging |
Het |
Erbb2 |
C |
T |
11: 98,319,804 (GRCm39) |
T632I |
probably damaging |
Het |
Erc2 |
A |
G |
14: 27,993,617 (GRCm39) |
T883A |
probably damaging |
Het |
Extl2 |
T |
C |
3: 115,820,789 (GRCm39) |
V198A |
probably benign |
Het |
Fktn |
G |
T |
4: 53,735,065 (GRCm39) |
M234I |
probably benign |
Het |
Ggt7 |
A |
G |
2: 155,340,966 (GRCm39) |
S400P |
probably benign |
Het |
Gldc |
A |
C |
19: 30,091,225 (GRCm39) |
V790G |
possibly damaging |
Het |
Gm14496 |
A |
C |
2: 181,633,026 (GRCm39) |
Q3P |
probably benign |
Het |
H2-D1 |
G |
A |
17: 35,482,564 (GRCm39) |
E95K |
probably benign |
Het |
Ikzf3 |
T |
C |
11: 98,409,521 (GRCm39) |
E14G |
probably benign |
Het |
Jag1 |
A |
T |
2: 136,957,558 (GRCm39) |
N51K |
possibly damaging |
Het |
Khdrbs3 |
A |
G |
15: 68,800,635 (GRCm39) |
D14G |
possibly damaging |
Het |
Krt84 |
A |
G |
15: 101,438,659 (GRCm39) |
V276A |
probably damaging |
Het |
Lamb1 |
T |
C |
12: 31,348,948 (GRCm39) |
I660T |
possibly damaging |
Het |
Lcmt2 |
A |
T |
2: 120,970,488 (GRCm39) |
S198R |
probably benign |
Het |
Lcn6 |
G |
A |
2: 25,567,131 (GRCm39) |
R44H |
probably benign |
Het |
Lrfn5 |
A |
T |
12: 61,886,527 (GRCm39) |
H105L |
probably damaging |
Het |
Lrit1 |
G |
A |
14: 36,784,091 (GRCm39) |
R473K |
probably benign |
Het |
Marchf1 |
A |
G |
8: 66,921,042 (GRCm39) |
T495A |
probably damaging |
Het |
Marveld3 |
T |
G |
8: 110,675,174 (GRCm39) |
|
probably null |
Het |
Mbd3 |
T |
C |
10: 80,230,420 (GRCm39) |
D160G |
possibly damaging |
Het |
Mrc2 |
T |
G |
11: 105,238,551 (GRCm39) |
C1233G |
probably damaging |
Het |
Ms4a13 |
T |
G |
19: 11,161,225 (GRCm39) |
T105P |
probably damaging |
Het |
Mtbp |
T |
C |
15: 55,480,951 (GRCm39) |
Y306H |
probably damaging |
Het |
Muc3a |
T |
C |
5: 137,244,958 (GRCm39) |
|
probably benign |
Het |
Myo1g |
T |
A |
11: 6,470,811 (GRCm39) |
Y15F |
probably benign |
Het |
Nae1 |
A |
T |
8: 105,250,216 (GRCm39) |
Y226N |
probably benign |
Het |
Nlrp9a |
A |
G |
7: 26,267,316 (GRCm39) |
S715G |
probably benign |
Het |
Or1j10 |
A |
T |
2: 36,267,633 (GRCm39) |
M282L |
probably benign |
Het |
Or2ag17 |
T |
C |
7: 106,390,028 (GRCm39) |
Y60C |
probably damaging |
Het |
Or4s2b |
T |
A |
2: 88,508,219 (GRCm39) |
S7T |
possibly damaging |
Het |
Or7g26 |
A |
T |
9: 19,230,612 (GRCm39) |
S267C |
probably damaging |
Het |
Or8g55 |
G |
T |
9: 39,784,707 (GRCm39) |
M45I |
probably benign |
Het |
Pex5l |
T |
C |
3: 33,069,129 (GRCm39) |
T123A |
probably damaging |
Het |
Pip5kl1 |
A |
T |
2: 32,466,691 (GRCm39) |
N62I |
probably benign |
Het |
Pkhd1l1 |
T |
C |
15: 44,408,890 (GRCm39) |
V2459A |
probably damaging |
Het |
Prb1a |
T |
A |
6: 132,184,439 (GRCm39) |
Q398L |
unknown |
Het |
Prkab2 |
T |
C |
3: 97,571,263 (GRCm39) |
L165S |
probably damaging |
Het |
Prl3d2 |
C |
G |
13: 27,305,689 (GRCm39) |
|
probably benign |
Het |
Ptdss1 |
G |
A |
13: 67,143,472 (GRCm39) |
G435D |
probably benign |
Het |
Qrfpr |
A |
G |
3: 36,236,729 (GRCm39) |
L224P |
probably damaging |
Het |
Rasl2-9 |
C |
T |
7: 5,128,441 (GRCm39) |
W163* |
probably null |
Het |
Rgs5 |
A |
G |
1: 169,517,983 (GRCm39) |
|
probably null |
Het |
Rnf19b |
T |
C |
4: 128,972,754 (GRCm39) |
L255P |
probably damaging |
Het |
Rp9 |
A |
C |
9: 22,368,751 (GRCm39) |
N69K |
probably damaging |
Het |
Sh3bp4 |
G |
T |
1: 89,073,210 (GRCm39) |
S686I |
probably damaging |
Het |
Shfl |
AGAGGAGGAGGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGAGGAGGAGGA |
9: 20,785,013 (GRCm39) |
|
probably benign |
Het |
Spp2 |
C |
A |
1: 88,340,015 (GRCm39) |
Q5K |
possibly damaging |
Het |
Svep1 |
C |
T |
4: 58,070,239 (GRCm39) |
G2516R |
probably damaging |
Het |
Syncrip |
A |
C |
9: 88,361,949 (GRCm39) |
S55R |
probably damaging |
Het |
Tacc3 |
T |
C |
5: 33,818,652 (GRCm39) |
L29P |
probably damaging |
Het |
Tex15 |
A |
G |
8: 34,065,120 (GRCm39) |
T1517A |
probably damaging |
Het |
Tmem140 |
A |
G |
6: 34,849,660 (GRCm39) |
M59V |
probably benign |
Het |
Ttn |
G |
T |
2: 76,575,872 (GRCm39) |
A25007E |
probably damaging |
Het |
Ubr2 |
T |
C |
17: 47,297,615 (GRCm39) |
T253A |
possibly damaging |
Het |
Unc80 |
C |
T |
1: 66,560,740 (GRCm39) |
H823Y |
possibly damaging |
Het |
Usp38 |
A |
G |
8: 81,722,399 (GRCm39) |
L374P |
probably damaging |
Het |
Vmn1r42 |
T |
A |
6: 89,822,483 (GRCm39) |
I29L |
probably benign |
Het |
Vmn2r94 |
C |
T |
17: 18,477,242 (GRCm39) |
V390M |
probably benign |
Het |
Vmp1 |
A |
G |
11: 86,552,026 (GRCm39) |
Y113H |
possibly damaging |
Het |
Wdr20 |
T |
C |
12: 110,760,464 (GRCm39) |
M450T |
probably benign |
Het |
Ylpm1 |
T |
C |
12: 85,061,770 (GRCm39) |
V557A |
unknown |
Het |
Zpld1 |
T |
C |
16: 55,053,935 (GRCm39) |
N286D |
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 |
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 |
R1681:Epha3
|
UTSW |
16 |
63,416,091 (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'- CAGAGACCCTCGCTGCATTTAACC -3'
(R):5'- ACCCACTGAGCTATCTACTTACCCG -3'
Sequencing Primer
(F):5'- TCAGTTAGAACCAAGCTACTTGC -3'
(R):5'- CGGCCGCTTAAAACTTCCT -3'
|
Posted On |
2014-04-13 |