Incidental Mutation 'R6052:Epha3'
ID |
484192 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Epha3
|
Ensembl Gene |
ENSMUSG00000052504 |
Gene Name |
Eph receptor A3 |
Synonyms |
End3, Tyro4, Cek4, Hek, Hek4, Mek4 |
MMRRC Submission |
044220-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.273)
|
Stock # |
R6052 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
63363897-63684538 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 63423967 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 541
(V541L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155946
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064405]
[ENSMUST00000232049]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000064405
AA Change: V542L
PolyPhen 2
Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000066554 Gene: ENSMUSG00000052504 AA Change: V542L
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 |
possibly damaging
Transcript: ENSMUST00000232049
AA Change: V541L
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
Meta Mutation Damage Score |
0.0715 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.7%
|
Validation Efficiency |
96% (80/83) |
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
A |
G |
17: 24,537,165 (GRCm39) |
F473L |
probably benign |
Het |
Ankrd17 |
T |
C |
5: 90,401,691 (GRCm39) |
I1449V |
probably benign |
Het |
Aox4 |
T |
A |
1: 58,293,477 (GRCm39) |
L943* |
probably null |
Het |
Arap1 |
G |
A |
7: 101,053,240 (GRCm39) |
V1257M |
probably damaging |
Het |
B3gnt9 |
T |
C |
8: 105,981,230 (GRCm39) |
S53G |
probably benign |
Het |
Baiap3 |
A |
T |
17: 25,467,444 (GRCm39) |
|
probably benign |
Het |
Canx |
T |
C |
11: 50,187,946 (GRCm39) |
D554G |
possibly damaging |
Het |
Cbfa2t2 |
T |
C |
2: 154,352,501 (GRCm39) |
V165A |
probably damaging |
Het |
Ccdc17 |
C |
T |
4: 116,457,145 (GRCm39) |
|
probably null |
Het |
Cdcp1 |
A |
G |
9: 123,014,396 (GRCm39) |
I126T |
probably benign |
Het |
Cdk13 |
A |
T |
13: 17,895,800 (GRCm39) |
D1036E |
probably damaging |
Het |
Cfap157 |
A |
G |
2: 32,669,863 (GRCm39) |
L240P |
probably damaging |
Het |
Clec18a |
C |
A |
8: 111,805,448 (GRCm39) |
E218* |
probably null |
Het |
Col3a1 |
T |
C |
1: 45,384,173 (GRCm39) |
|
probably benign |
Het |
Dennd4a |
A |
G |
9: 64,794,227 (GRCm39) |
E682G |
probably damaging |
Het |
Dnah14 |
T |
C |
1: 181,494,052 (GRCm39) |
V1736A |
possibly damaging |
Het |
Dpep2 |
T |
A |
8: 106,717,270 (GRCm39) |
D162V |
possibly damaging |
Het |
Drd3 |
C |
A |
16: 43,641,646 (GRCm39) |
P321T |
probably benign |
Het |
Egfr |
A |
G |
11: 16,861,554 (GRCm39) |
H1111R |
probably benign |
Het |
Entpd1 |
T |
C |
19: 40,708,928 (GRCm39) |
S58P |
probably damaging |
Het |
Eri3 |
T |
A |
4: 117,421,825 (GRCm39) |
D34E |
probably damaging |
Het |
Eya1 |
T |
C |
1: 14,353,374 (GRCm39) |
D58G |
probably damaging |
Het |
Fat3 |
T |
A |
9: 15,833,975 (GRCm39) |
S26C |
probably null |
Het |
Fgl1 |
T |
C |
8: 41,653,548 (GRCm39) |
D115G |
probably damaging |
Het |
Fitm2 |
T |
C |
2: 163,312,036 (GRCm39) |
Y59C |
probably damaging |
Het |
Fras1 |
T |
A |
5: 96,912,725 (GRCm39) |
I3343N |
probably damaging |
Het |
Gba2 |
C |
A |
4: 43,568,330 (GRCm39) |
C679F |
probably damaging |
Het |
Glis2 |
G |
A |
16: 4,431,603 (GRCm39) |
|
probably benign |
Het |
Gm5150 |
T |
A |
3: 16,044,917 (GRCm39) |
I103F |
probably damaging |
Het |
Hhipl2 |
T |
C |
1: 183,204,965 (GRCm39) |
S313P |
possibly damaging |
Het |
Hmgcs1 |
A |
G |
13: 120,166,995 (GRCm39) |
D474G |
probably benign |
Het |
Homer3 |
C |
T |
8: 70,744,076 (GRCm39) |
Q267* |
probably null |
Het |
Hsd17b8 |
A |
G |
17: 34,246,429 (GRCm39) |
L118P |
probably damaging |
Het |
Igkv8-28 |
C |
T |
6: 70,120,673 (GRCm39) |
G90D |
probably damaging |
Het |
Kalrn |
T |
A |
16: 34,181,255 (GRCm39) |
I128F |
probably damaging |
Het |
Krt4 |
A |
G |
15: 101,831,194 (GRCm39) |
|
probably null |
Het |
Lamb2 |
T |
A |
9: 108,364,811 (GRCm39) |
C1188* |
probably null |
Het |
Lsr |
A |
T |
7: 30,658,042 (GRCm39) |
M355K |
probably damaging |
Het |
Map3k11 |
T |
G |
19: 5,747,430 (GRCm39) |
D555E |
probably benign |
Het |
Myocd |
A |
G |
11: 65,087,082 (GRCm39) |
Y282H |
probably damaging |
Het |
Nae1 |
T |
C |
8: 105,261,176 (GRCm39) |
I7M |
probably benign |
Het |
Nprl3 |
G |
T |
11: 32,205,453 (GRCm39) |
H102N |
possibly damaging |
Het |
Nup62 |
T |
A |
7: 44,478,464 (GRCm39) |
F160I |
possibly damaging |
Het |
Or10w1 |
C |
A |
19: 13,631,871 (GRCm39) |
P26Q |
possibly damaging |
Het |
Or2d3c |
A |
T |
7: 106,525,896 (GRCm39) |
F257I |
probably benign |
Het |
Or2r2 |
T |
A |
6: 42,463,588 (GRCm39) |
T180S |
possibly damaging |
Het |
Or5p76 |
A |
G |
7: 108,122,945 (GRCm39) |
S71P |
probably benign |
Het |
Or6c35 |
C |
A |
10: 129,169,071 (GRCm39) |
T107K |
possibly damaging |
Het |
Osbpl10 |
T |
C |
9: 114,896,383 (GRCm39) |
|
probably null |
Het |
Pcdh9 |
C |
T |
14: 94,123,282 (GRCm39) |
V963I |
probably benign |
Het |
Phf12 |
A |
G |
11: 77,909,044 (GRCm39) |
R375G |
probably benign |
Het |
Piezo1 |
G |
A |
8: 123,233,008 (GRCm39) |
T108M |
probably damaging |
Het |
Plxnc1 |
T |
A |
10: 94,779,635 (GRCm39) |
Q269L |
probably benign |
Het |
Pomgnt1 |
T |
A |
4: 116,008,799 (GRCm39) |
N11K |
possibly damaging |
Het |
Pramel22 |
T |
A |
4: 143,382,222 (GRCm39) |
D158V |
probably damaging |
Het |
Prkd1 |
A |
T |
12: 50,413,083 (GRCm39) |
|
probably null |
Het |
Prpf40a |
T |
C |
2: 53,049,293 (GRCm39) |
T190A |
probably benign |
Het |
Prrc2b |
A |
C |
2: 32,102,297 (GRCm39) |
H790P |
possibly damaging |
Het |
Rest |
T |
G |
5: 77,429,027 (GRCm39) |
V482G |
probably benign |
Het |
Ros1 |
T |
A |
10: 52,039,999 (GRCm39) |
I322L |
probably benign |
Het |
Rpl18 |
G |
A |
7: 45,369,554 (GRCm39) |
|
probably benign |
Het |
Rsad2 |
G |
A |
12: 26,500,577 (GRCm39) |
H237Y |
probably benign |
Het |
Sbf2 |
A |
G |
7: 110,040,741 (GRCm39) |
L362S |
probably damaging |
Het |
Sgsm3 |
A |
G |
15: 80,893,464 (GRCm39) |
T409A |
probably benign |
Het |
Slc16a14 |
T |
C |
1: 84,890,430 (GRCm39) |
T292A |
possibly damaging |
Het |
Spg11 |
T |
G |
2: 121,927,837 (GRCm39) |
K649T |
probably damaging |
Het |
Srprb |
T |
A |
9: 103,067,415 (GRCm39) |
I268F |
possibly damaging |
Het |
Tap2 |
G |
A |
17: 34,433,683 (GRCm39) |
G566S |
probably damaging |
Het |
Tecpr2 |
T |
C |
12: 110,885,325 (GRCm39) |
V168A |
possibly damaging |
Het |
Tln1 |
G |
C |
4: 43,555,052 (GRCm39) |
F259L |
probably damaging |
Het |
Tmem181a |
T |
A |
17: 6,330,890 (GRCm39) |
L50H |
probably damaging |
Het |
Tshz1 |
A |
G |
18: 84,032,194 (GRCm39) |
I738T |
probably damaging |
Het |
Tspan12 |
T |
C |
6: 21,772,637 (GRCm39) |
E304G |
probably benign |
Het |
Urb1 |
C |
T |
16: 90,559,271 (GRCm39) |
G1671S |
probably damaging |
Het |
Vmn2r2 |
T |
C |
3: 64,024,782 (GRCm39) |
S600G |
possibly damaging |
Het |
Wnt3 |
C |
A |
11: 103,699,000 (GRCm39) |
Y35* |
probably null |
Het |
Xpo7 |
T |
C |
14: 70,921,159 (GRCm39) |
Y603C |
possibly damaging |
Het |
Zfp457 |
G |
A |
13: 67,442,015 (GRCm39) |
H91Y |
probably damaging |
Het |
Zfp664 |
T |
A |
5: 124,963,250 (GRCm39) |
C215S |
unknown |
Het |
Zfp882 |
G |
A |
8: 72,668,349 (GRCm39) |
G392D |
probably benign |
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 |
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 |
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'- GCAGAAGGGTGTCAAATATAAACATCC -3'
(R):5'- AACTGTGAATTCCTTCAGTGTTGG -3'
Sequencing Primer
(F):5'- ATAAACATCCAAATCTCTTAAGGGAC -3'
(R):5'- TGAATTCCTTCAGTGTTGGATTAAAC -3'
|
Posted On |
2017-07-14 |