Incidental Mutation 'R1803:Epha3'
ID |
203331 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Epha3
|
Ensembl Gene |
ENSMUSG00000052504 |
Gene Name |
Eph receptor A3 |
Synonyms |
End3, Tyro4, Cek4, Hek, Hek4, Mek4 |
MMRRC Submission |
039833-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.225)
|
Stock # |
R1803 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
63363897-63684538 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 63422651 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 579
(K579E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155946
(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: K580E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000066554 Gene: ENSMUSG00000052504 AA Change: K580E
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: K579E
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.0%
- 20x: 91.6%
|
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 |
4921513D11Rik |
A |
T |
17: 79,935,095 (GRCm39) |
|
probably benign |
Het |
Adgrl3 |
C |
T |
5: 81,919,464 (GRCm39) |
R586* |
probably null |
Het |
Arpp21 |
T |
C |
9: 111,956,466 (GRCm39) |
T471A |
possibly damaging |
Het |
Blnk |
T |
C |
19: 40,940,821 (GRCm39) |
E194G |
probably damaging |
Het |
Cd44 |
G |
A |
2: 102,664,597 (GRCm39) |
P332S |
probably damaging |
Het |
Cd47 |
T |
C |
16: 49,688,169 (GRCm39) |
F30L |
possibly damaging |
Het |
Cdh23 |
T |
C |
10: 60,167,060 (GRCm39) |
E1861G |
probably damaging |
Het |
Cdkal1 |
T |
A |
13: 29,701,454 (GRCm39) |
M332L |
probably damaging |
Het |
Cul9 |
A |
G |
17: 46,814,023 (GRCm39) |
S2284P |
probably damaging |
Het |
Cyp2a5 |
G |
T |
7: 26,534,971 (GRCm39) |
|
probably null |
Het |
Dcp2 |
T |
C |
18: 44,528,984 (GRCm39) |
I33T |
probably damaging |
Het |
Ddx52 |
A |
T |
11: 83,836,958 (GRCm39) |
I150L |
probably damaging |
Het |
Dennd5a |
T |
A |
7: 109,497,820 (GRCm39) |
T1067S |
probably benign |
Het |
Dnpep |
A |
T |
1: 75,286,058 (GRCm39) |
L419* |
probably null |
Het |
Dock8 |
A |
G |
19: 25,109,599 (GRCm39) |
K927R |
probably benign |
Het |
Dpy19l4 |
A |
T |
4: 11,281,020 (GRCm39) |
V475E |
possibly damaging |
Het |
Edf1 |
C |
T |
2: 25,450,206 (GRCm39) |
S41F |
probably damaging |
Het |
Elapor2 |
A |
G |
5: 9,477,832 (GRCm39) |
H410R |
probably benign |
Het |
Emilin1 |
C |
T |
5: 31,075,082 (GRCm39) |
P441L |
possibly damaging |
Het |
Exoc1 |
A |
G |
5: 76,709,288 (GRCm39) |
N23S |
probably benign |
Het |
Flt3 |
C |
A |
5: 147,303,865 (GRCm39) |
E358* |
probably null |
Het |
Fzd1 |
A |
T |
5: 4,806,385 (GRCm39) |
I399K |
probably damaging |
Het |
Gdi2 |
T |
A |
13: 3,614,547 (GRCm39) |
Y333* |
probably null |
Het |
Gm10479 |
A |
G |
12: 20,483,654 (GRCm39) |
H91R |
probably benign |
Het |
Gm10842 |
G |
A |
11: 105,037,867 (GRCm39) |
R50K |
unknown |
Het |
Grin2c |
A |
T |
11: 115,151,558 (GRCm39) |
|
probably null |
Het |
Grk2 |
C |
T |
19: 4,344,911 (GRCm39) |
V53M |
probably damaging |
Het |
H2-M10.2 |
C |
T |
17: 36,596,763 (GRCm39) |
M104I |
probably benign |
Het |
Hyou1 |
C |
T |
9: 44,295,479 (GRCm39) |
Q290* |
probably null |
Het |
Inka1 |
A |
G |
9: 107,861,938 (GRCm39) |
V128A |
probably benign |
Het |
Itgb2 |
T |
C |
10: 77,400,624 (GRCm39) |
S746P |
probably benign |
Het |
Jmjd7 |
C |
T |
2: 119,860,589 (GRCm39) |
L39F |
probably damaging |
Het |
Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
Klhl2 |
T |
C |
8: 65,212,831 (GRCm39) |
E236G |
probably damaging |
Het |
Krtap19-4 |
C |
A |
16: 88,681,879 (GRCm39) |
G26C |
unknown |
Het |
Krtap4-16 |
G |
A |
11: 99,741,998 (GRCm39) |
T134I |
possibly damaging |
Het |
Lamb2 |
A |
G |
9: 108,365,298 (GRCm39) |
H1318R |
probably benign |
Het |
Mab21l3 |
G |
A |
3: 101,742,446 (GRCm39) |
T38M |
probably benign |
Het |
Mfsd10 |
A |
T |
5: 34,794,094 (GRCm39) |
D6E |
possibly damaging |
Het |
Mnat1 |
G |
T |
12: 73,226,007 (GRCm39) |
G91* |
probably null |
Het |
Mns1 |
A |
T |
9: 72,360,016 (GRCm39) |
I389F |
probably damaging |
Het |
Morc1 |
A |
T |
16: 48,443,001 (GRCm39) |
T829S |
probably benign |
Het |
Morn5 |
T |
A |
2: 35,943,089 (GRCm39) |
V63E |
probably benign |
Het |
Mybpc1 |
T |
C |
10: 88,389,157 (GRCm39) |
T404A |
possibly damaging |
Het |
Npc1l1 |
A |
T |
11: 6,178,846 (GRCm39) |
M188K |
probably damaging |
Het |
Nrcam |
T |
A |
12: 44,618,991 (GRCm39) |
M846K |
probably benign |
Het |
Nup210 |
A |
C |
6: 91,051,264 (GRCm39) |
F373C |
probably damaging |
Het |
Or4k49 |
G |
T |
2: 111,495,099 (GRCm39) |
S176I |
probably damaging |
Het |
Or5b111 |
A |
T |
19: 13,291,535 (GRCm39) |
V38E |
possibly damaging |
Het |
Or7g18 |
T |
C |
9: 18,787,376 (GRCm39) |
V248A |
probably damaging |
Het |
Osbpl8 |
T |
C |
10: 111,110,910 (GRCm39) |
S471P |
probably damaging |
Het |
Plekhn1 |
A |
T |
4: 156,306,838 (GRCm39) |
I517N |
probably benign |
Het |
Plin4 |
G |
T |
17: 56,411,931 (GRCm39) |
T700K |
probably damaging |
Het |
Plxna4 |
A |
T |
6: 32,494,379 (GRCm39) |
V79D |
probably damaging |
Het |
Prdm16 |
A |
T |
4: 154,419,718 (GRCm39) |
M897K |
probably damaging |
Het |
Ptprg |
T |
A |
14: 12,091,410 (GRCm38) |
|
probably null |
Het |
Rcan2 |
G |
T |
17: 44,347,924 (GRCm39) |
C211F |
probably damaging |
Het |
Rigi |
A |
G |
4: 40,224,013 (GRCm39) |
S289P |
probably benign |
Het |
Rxfp1 |
C |
T |
3: 79,645,076 (GRCm39) |
C9Y |
probably benign |
Het |
Scn2a |
G |
A |
2: 65,501,111 (GRCm39) |
|
probably null |
Het |
Scnn1a |
A |
C |
6: 125,309,157 (GRCm39) |
R264S |
probably damaging |
Het |
Sema4g |
T |
C |
19: 44,986,459 (GRCm39) |
V345A |
probably benign |
Het |
Sgo2b |
T |
A |
8: 64,380,426 (GRCm39) |
D802V |
probably benign |
Het |
Slc25a21 |
G |
A |
12: 56,904,872 (GRCm39) |
T54I |
probably benign |
Het |
Slc25a46 |
C |
T |
18: 31,727,641 (GRCm39) |
E223K |
probably damaging |
Het |
Slc25a54 |
A |
G |
3: 109,010,013 (GRCm39) |
I171V |
probably benign |
Het |
Slc7a6 |
T |
C |
8: 106,919,088 (GRCm39) |
V224A |
possibly damaging |
Het |
Smchd1 |
A |
T |
17: 71,694,001 (GRCm39) |
V1248E |
probably damaging |
Het |
Sort1 |
C |
A |
3: 108,233,015 (GRCm39) |
F196L |
probably damaging |
Het |
Sptbn4 |
G |
A |
7: 27,118,008 (GRCm39) |
T357M |
probably damaging |
Het |
Srrm3 |
T |
A |
5: 135,885,983 (GRCm39) |
W308R |
probably damaging |
Het |
Stard9 |
A |
T |
2: 120,531,970 (GRCm39) |
E2742D |
probably benign |
Het |
Tas1r1 |
T |
A |
4: 152,116,705 (GRCm39) |
I310F |
probably damaging |
Het |
Tas1r3 |
G |
A |
4: 155,944,927 (GRCm39) |
R765C |
probably damaging |
Het |
Tff1 |
A |
T |
17: 31,380,560 (GRCm39) |
C85* |
probably null |
Het |
Tlr11 |
C |
T |
14: 50,598,104 (GRCm39) |
T30I |
probably benign |
Het |
Trio |
T |
C |
15: 27,748,426 (GRCm39) |
T1265A |
probably benign |
Het |
Ttc7b |
T |
C |
12: 100,373,261 (GRCm39) |
M338V |
possibly damaging |
Het |
Umod |
T |
A |
7: 119,063,947 (GRCm39) |
S620C |
probably damaging |
Het |
Ust |
C |
A |
10: 8,173,819 (GRCm39) |
|
probably null |
Het |
Vmn1r176 |
A |
T |
7: 23,534,609 (GRCm39) |
S181R |
probably damaging |
Het |
Vmn1r202 |
T |
C |
13: 22,686,313 (GRCm39) |
T35A |
probably benign |
Het |
Vmn1r39 |
C |
A |
6: 66,781,895 (GRCm39) |
R104L |
probably benign |
Het |
Vps13b |
T |
A |
15: 35,430,351 (GRCm39) |
Y286* |
probably null |
Het |
Zfp579 |
G |
A |
7: 4,996,769 (GRCm39) |
R381C |
probably damaging |
Het |
Zfp85 |
A |
G |
13: 67,899,747 (GRCm39) |
S71P |
probably benign |
Het |
Zfyve16 |
A |
T |
13: 92,640,593 (GRCm39) |
V1254E |
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 |
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 |
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'- ATTCTGAAACACCTCCATGGAG -3'
(R):5'- CATTAGGCAACCTTCCAGGGTAC -3'
Sequencing Primer
(F):5'- CACCTCCATGGAGAAAACATTTC -3'
(R):5'- TTCAGGGGAAAGCTTGAG -3'
|
Posted On |
2014-06-23 |