Incidental Mutation 'R5248:Epha3'
ID |
398698 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Epha3
|
Ensembl Gene |
ENSMUSG00000052504 |
Gene Name |
Eph receptor A3 |
Synonyms |
End3, Tyro4, Cek4, Hek, Hek4, Mek4 |
MMRRC Submission |
042819-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.273)
|
Stock # |
R5248 (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 A
at 63418620 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Histidine
at position 608
(Q608H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066554
(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: Q608H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000066554 Gene: ENSMUSG00000052504 AA Change: Q608H
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: Q607H
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aass |
T |
A |
6: 23,109,437 (GRCm39) |
E344D |
probably benign |
Het |
Acoxl |
G |
A |
2: 127,917,855 (GRCm39) |
|
probably null |
Het |
Adora1 |
A |
T |
1: 134,131,224 (GRCm39) |
L149Q |
possibly damaging |
Het |
Aebp1 |
C |
A |
11: 5,818,501 (GRCm39) |
D115E |
possibly damaging |
Het |
Ank3 |
A |
G |
10: 69,822,938 (GRCm39) |
I1819V |
probably benign |
Het |
Ankrd44 |
T |
C |
1: 54,706,539 (GRCm39) |
H454R |
probably damaging |
Het |
Ap4e1 |
C |
T |
2: 126,906,842 (GRCm39) |
A1034V |
possibly damaging |
Het |
B3galt2 |
T |
A |
1: 143,522,849 (GRCm39) |
F328L |
probably benign |
Het |
Bbip1 |
G |
A |
19: 53,919,786 (GRCm39) |
|
probably benign |
Het |
Brsk1 |
G |
A |
7: 4,711,865 (GRCm39) |
E572K |
possibly damaging |
Het |
Clca3a1 |
G |
T |
3: 144,442,897 (GRCm39) |
P716T |
possibly damaging |
Het |
Clpx |
T |
C |
9: 65,228,132 (GRCm39) |
V380A |
probably damaging |
Het |
Gprc6a |
G |
T |
10: 51,491,089 (GRCm39) |
P712T |
probably damaging |
Het |
Itpr1 |
C |
A |
6: 108,519,023 (GRCm39) |
Q2720K |
probably damaging |
Het |
Kdm5b |
A |
G |
1: 134,548,735 (GRCm39) |
E1080G |
probably benign |
Het |
Macf1 |
G |
A |
4: 123,295,567 (GRCm39) |
R3163* |
probably null |
Het |
Map4k5 |
T |
C |
12: 69,888,755 (GRCm39) |
D292G |
probably benign |
Het |
Mau2 |
A |
T |
8: 70,481,373 (GRCm39) |
C217S |
probably benign |
Het |
Mtf1 |
T |
C |
4: 124,714,220 (GRCm39) |
F210L |
probably damaging |
Het |
Mtif2 |
G |
A |
11: 29,486,889 (GRCm39) |
V300M |
probably damaging |
Het |
Mtmr2 |
T |
C |
9: 13,694,905 (GRCm39) |
|
probably benign |
Het |
Mybpc3 |
C |
A |
2: 90,955,573 (GRCm39) |
|
probably null |
Het |
Ncmap |
T |
C |
4: 135,107,430 (GRCm39) |
|
probably null |
Het |
Nek9 |
A |
G |
12: 85,355,751 (GRCm39) |
F672S |
probably damaging |
Het |
Nuak1 |
A |
T |
10: 84,245,542 (GRCm39) |
I101N |
probably damaging |
Het |
Or8s16 |
T |
C |
15: 98,211,311 (GRCm39) |
N40S |
probably damaging |
Het |
Pcdh7 |
T |
A |
5: 58,286,515 (GRCm39) |
M1197K |
probably damaging |
Het |
Pcdhb17 |
A |
C |
18: 37,618,939 (GRCm39) |
Q243P |
probably benign |
Het |
Pcf11 |
T |
G |
7: 92,310,699 (GRCm39) |
K221Q |
probably damaging |
Het |
Pkhd1 |
C |
T |
1: 20,604,769 (GRCm39) |
R1182H |
probably benign |
Het |
Ptprz1 |
C |
A |
6: 23,001,900 (GRCm39) |
P1330Q |
probably benign |
Het |
Rbm33 |
T |
G |
5: 28,542,050 (GRCm39) |
|
probably null |
Het |
Rhobtb1 |
A |
G |
10: 69,084,615 (GRCm39) |
D2G |
probably damaging |
Het |
Rngtt |
T |
A |
4: 33,325,110 (GRCm39) |
C110* |
probably null |
Het |
Setx |
T |
A |
2: 29,038,430 (GRCm39) |
N1638K |
probably benign |
Het |
Slc24a3 |
A |
T |
2: 145,446,437 (GRCm39) |
M282L |
probably benign |
Het |
Slc7a1 |
A |
T |
5: 148,270,798 (GRCm39) |
V556D |
possibly damaging |
Het |
Sppl2c |
A |
T |
11: 104,077,407 (GRCm39) |
D69V |
possibly damaging |
Het |
Srpk3 |
C |
T |
X: 72,818,555 (GRCm39) |
R82* |
probably null |
Het |
Tas2r120 |
A |
T |
6: 132,634,110 (GRCm39) |
N64I |
probably damaging |
Het |
Tcf25 |
G |
T |
8: 124,100,678 (GRCm39) |
A23S |
probably damaging |
Het |
Tigd2 |
A |
T |
6: 59,188,138 (GRCm39) |
K335I |
probably damaging |
Het |
Tlr6 |
A |
G |
5: 65,112,647 (GRCm39) |
S87P |
probably benign |
Het |
Tmem135 |
T |
A |
7: 88,797,200 (GRCm39) |
Y352F |
probably damaging |
Het |
Tob2 |
T |
C |
15: 81,735,918 (GRCm39) |
Y17C |
probably damaging |
Het |
Tymp |
GC |
GCC |
15: 89,258,567 (GRCm39) |
|
probably null |
Het |
Vmn1r179 |
T |
C |
7: 23,628,478 (GRCm39) |
V223A |
probably damaging |
Het |
Zfp946 |
T |
C |
17: 22,673,447 (GRCm39) |
V67A |
probably benign |
Het |
Zswim4 |
G |
T |
8: 84,946,561 (GRCm39) |
N698K |
probably benign |
Het |
Zzz3 |
A |
G |
3: 152,133,182 (GRCm39) |
Q80R |
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 |
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 |
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'- TCAGAAAATGCCTGTCTCCAC -3'
(R):5'- CCTAGGATCTTAGCAGAGAAGATAC -3'
Sequencing Primer
(F):5'- TGTCTCCACAGTAGTACACCTAC -3'
(R):5'- CAGTAAAACTTCCAGGTCTC -3'
|
Posted On |
2016-07-06 |