Incidental Mutation 'R7855:Epha3'
ID |
607213 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Epha3
|
Ensembl Gene |
ENSMUSG00000052504 |
Gene Name |
Eph receptor A3 |
Synonyms |
End3, Tyro4, Cek4, Hek, Hek4, Mek4 |
MMRRC Submission |
045908-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.273)
|
Stock # |
R7855 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
63363897-63684538 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 63593923 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 55
(I55T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066554
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064405]
[ENSMUST00000231270]
[ENSMUST00000232049]
[ENSMUST00000232461]
[ENSMUST00000232654]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000064405
AA Change: I55T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000066554 Gene: ENSMUSG00000052504 AA Change: I55T
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: ENSMUST00000231270
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000232049
AA Change: I55T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232461
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000232654
AA Change: I55T
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
A |
T |
11: 110,082,454 (GRCm39) |
V1173D |
probably benign |
Het |
Ace |
A |
T |
11: 105,863,205 (GRCm39) |
M327L |
probably benign |
Het |
Bcl2l2 |
C |
T |
14: 55,121,836 (GRCm39) |
|
probably benign |
Het |
Bicdl2 |
C |
T |
17: 23,884,991 (GRCm39) |
Q231* |
probably null |
Het |
Brms1l |
A |
T |
12: 55,912,838 (GRCm39) |
D277V |
possibly damaging |
Het |
Cd38 |
C |
A |
5: 44,058,790 (GRCm39) |
L135M |
probably damaging |
Het |
Col6a3 |
G |
T |
1: 90,738,343 (GRCm39) |
P1059T |
possibly damaging |
Het |
Coro1c |
A |
T |
5: 113,986,658 (GRCm39) |
M262K |
probably benign |
Het |
Cpxm2 |
G |
T |
7: 131,659,424 (GRCm39) |
P481Q |
possibly damaging |
Het |
Dipk1c |
G |
A |
18: 84,748,171 (GRCm39) |
|
probably benign |
Het |
Dnah12 |
G |
T |
14: 26,551,286 (GRCm39) |
V2543F |
probably benign |
Het |
Dock2 |
A |
C |
11: 34,223,698 (GRCm39) |
D1145E |
probably damaging |
Het |
Elf3 |
G |
A |
1: 135,182,090 (GRCm39) |
R364W |
probably damaging |
Het |
Eln |
AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC |
AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC |
5: 134,739,935 (GRCm39) |
|
probably benign |
Het |
Gfer |
C |
A |
17: 24,913,259 (GRCm39) |
D198Y |
probably damaging |
Het |
Gm11568 |
A |
T |
11: 99,749,010 (GRCm39) |
T72S |
unknown |
Het |
Igkv3-1 |
C |
T |
6: 70,681,053 (GRCm39) |
A84V |
probably benign |
Het |
Il1rl2 |
A |
C |
1: 40,382,279 (GRCm39) |
Y197S |
probably damaging |
Het |
Il2ra |
T |
C |
2: 11,685,147 (GRCm39) |
I161T |
possibly damaging |
Het |
Itgb8 |
C |
T |
12: 119,130,507 (GRCm39) |
R667H |
probably benign |
Het |
Kcnh7 |
G |
A |
2: 62,667,538 (GRCm39) |
Q334* |
probably null |
Het |
Lctl |
A |
C |
9: 64,040,498 (GRCm39) |
R480S |
possibly damaging |
Het |
Lrba |
T |
G |
3: 86,222,737 (GRCm39) |
I617S |
possibly damaging |
Het |
Marf1 |
G |
T |
16: 13,932,065 (GRCm39) |
H1651N |
probably benign |
Het |
Mitf |
T |
A |
6: 97,970,157 (GRCm39) |
Y142N |
probably damaging |
Het |
Or51v14 |
T |
A |
7: 103,260,979 (GRCm39) |
I194F |
possibly damaging |
Het |
Or52r1 |
A |
G |
7: 102,536,835 (GRCm39) |
V175A |
probably benign |
Het |
Pecam1 |
A |
G |
11: 106,562,576 (GRCm39) |
V708A |
probably benign |
Het |
Pinlyp |
C |
T |
7: 24,241,865 (GRCm39) |
|
probably null |
Het |
Polh |
G |
A |
17: 46,486,174 (GRCm39) |
R382W |
probably damaging |
Het |
Pramel51 |
A |
T |
12: 88,142,853 (GRCm39) |
I450N |
probably benign |
Het |
Prdm10 |
A |
G |
9: 31,238,770 (GRCm39) |
I221V |
probably benign |
Het |
Pskh1 |
G |
T |
8: 106,639,722 (GRCm39) |
R134L |
probably benign |
Het |
Ptpre |
A |
G |
7: 135,253,724 (GRCm39) |
N6D |
probably benign |
Het |
Rasgrp4 |
C |
T |
7: 28,850,035 (GRCm39) |
P58L |
unknown |
Het |
Rhbdf2 |
G |
T |
11: 116,493,066 (GRCm39) |
C393* |
probably null |
Het |
Rlf |
T |
C |
4: 121,039,888 (GRCm39) |
I174M |
possibly damaging |
Het |
Ryr2 |
T |
A |
13: 11,721,509 (GRCm39) |
R2641* |
probably null |
Het |
Semp2l1 |
A |
C |
1: 32,585,114 (GRCm39) |
I265M |
probably damaging |
Het |
Simc1 |
A |
G |
13: 54,672,645 (GRCm39) |
H331R |
probably benign |
Het |
Skp2 |
A |
G |
15: 9,122,328 (GRCm39) |
S256P |
probably benign |
Het |
Smarcd2 |
T |
C |
11: 106,158,392 (GRCm39) |
R10G |
probably benign |
Het |
Spef2 |
A |
G |
15: 9,687,981 (GRCm39) |
L480P |
possibly damaging |
Het |
Tenm4 |
A |
G |
7: 96,523,081 (GRCm39) |
H1541R |
probably damaging |
Het |
Top1 |
T |
A |
2: 160,556,008 (GRCm39) |
L489Q |
probably damaging |
Het |
Ttll13 |
C |
T |
7: 79,903,845 (GRCm39) |
H258Y |
probably damaging |
Het |
Unc80 |
A |
G |
1: 66,522,508 (GRCm39) |
R237G |
possibly damaging |
Het |
Vmn1r55 |
A |
G |
7: 5,149,623 (GRCm39) |
F267L |
probably benign |
Het |
Vmn2r96 |
T |
A |
17: 18,818,130 (GRCm39) |
M761K |
possibly damaging |
Het |
Vps33a |
G |
A |
5: 123,709,042 (GRCm39) |
H58Y |
possibly damaging |
Het |
Zfp1002 |
C |
T |
2: 150,097,066 (GRCm39) |
R121Q |
probably benign |
Het |
Zfp354c |
TCACACTCGGCACA |
TCACA |
11: 50,706,067 (GRCm39) |
|
probably benign |
Het |
Zfp467 |
T |
C |
6: 48,416,115 (GRCm39) |
Q179R |
probably damaging |
Het |
Zfp729a |
A |
T |
13: 67,768,067 (GRCm39) |
S721T |
possibly damaging |
Het |
Zfta |
T |
A |
19: 7,399,621 (GRCm39) |
I456N |
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 |
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 |
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'- ACCAATGGAATGCTGTTACAGTC -3'
(R):5'- TGCAGTGCAAGACAAATGTATGC -3'
Sequencing Primer
(F):5'- TACAGTCCCGCAGTGTGAACTTTAG -3'
(R):5'- TTATAAACACACCCTAGATGGCTAG -3'
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Posted On |
2019-12-20 |