Incidental Mutation 'R0148:Epha3'
ID |
60886 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Epha3
|
Ensembl Gene |
ENSMUSG00000052504 |
Gene Name |
Eph receptor A3 |
Synonyms |
End3, Tyro4, Cek4, Hek, Hek4, Mek4 |
MMRRC Submission |
038432-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.273)
|
Stock # |
R0148 (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 63433307 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 446
(D446G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155946
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064405]
[ENSMUST00000232049]
[ENSMUST00000232461]
[ENSMUST00000232654]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000064405
AA Change: D446G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000066554 Gene: ENSMUSG00000052504 AA Change: D446G
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: D446G
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232461
AA Change: D145G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232654
AA Change: D446G
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
Meta Mutation Damage Score |
0.0902 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 96.0%
- 20x: 91.8%
|
Validation Efficiency |
86% (30/35) |
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
T |
C |
6: 121,639,405 (GRCm39) |
|
probably null |
Het |
Agtr1a |
T |
C |
13: 30,565,927 (GRCm39) |
S331P |
probably benign |
Het |
Ank1 |
T |
A |
8: 23,613,993 (GRCm39) |
N1545K |
probably damaging |
Het |
Bahcc1 |
A |
T |
11: 120,159,230 (GRCm39) |
Q152H |
probably damaging |
Het |
Bend3 |
T |
A |
10: 43,387,946 (GRCm39) |
Y780N |
probably damaging |
Het |
Bod1l |
G |
T |
5: 41,976,040 (GRCm39) |
A1758E |
possibly damaging |
Het |
Ctcfl |
T |
C |
2: 172,960,340 (GRCm39) |
D81G |
possibly damaging |
Het |
Ddx39a |
C |
T |
8: 84,449,105 (GRCm39) |
R298C |
possibly damaging |
Het |
Dock8 |
T |
C |
19: 25,096,823 (GRCm39) |
L577P |
probably benign |
Het |
Drc1 |
A |
T |
5: 30,486,487 (GRCm39) |
N13I |
possibly damaging |
Het |
Efl1 |
T |
C |
7: 82,320,878 (GRCm39) |
S104P |
probably damaging |
Het |
Eml4 |
T |
A |
17: 83,729,081 (GRCm39) |
N85K |
probably damaging |
Het |
Epb41l4a |
T |
C |
18: 33,931,853 (GRCm39) |
T581A |
probably damaging |
Het |
Fam209 |
G |
T |
2: 172,315,900 (GRCm39) |
G92C |
probably damaging |
Het |
Fbln1 |
G |
A |
15: 85,115,027 (GRCm39) |
R193H |
probably damaging |
Het |
Fbxw21 |
A |
G |
9: 108,977,085 (GRCm39) |
|
probably null |
Het |
Fgf17 |
C |
T |
14: 70,876,313 (GRCm39) |
R49Q |
probably damaging |
Het |
Flnb |
T |
C |
14: 7,939,077 (GRCm38) |
S2307P |
probably benign |
Het |
Galr1 |
A |
G |
18: 82,423,695 (GRCm39) |
L194P |
probably benign |
Het |
Gar1 |
T |
C |
3: 129,623,122 (GRCm39) |
H89R |
probably damaging |
Het |
Gbp4 |
T |
A |
5: 105,267,362 (GRCm39) |
Y519F |
probably benign |
Het |
Git1 |
A |
G |
11: 77,396,554 (GRCm39) |
T601A |
probably benign |
Het |
Gm10722 |
T |
"C,A" |
9: 3,001,405 (GRCm39) |
|
probably null |
Het |
Gm5142 |
C |
T |
14: 59,416,119 (GRCm39) |
R13H |
possibly damaging |
Het |
Gria2 |
A |
C |
3: 80,615,038 (GRCm39) |
W481G |
probably damaging |
Het |
Homer2 |
T |
C |
7: 81,274,026 (GRCm39) |
T57A |
probably benign |
Het |
Hpse2 |
A |
C |
19: 42,920,099 (GRCm39) |
|
probably null |
Het |
Hspb7 |
T |
C |
4: 141,151,302 (GRCm39) |
I148T |
probably damaging |
Het |
Htr1d |
C |
A |
4: 136,170,788 (GRCm39) |
T339K |
probably damaging |
Het |
Il4ra |
T |
A |
7: 125,174,709 (GRCm39) |
C306S |
probably damaging |
Het |
Kansl3 |
A |
T |
1: 36,392,897 (GRCm39) |
C225S |
probably damaging |
Het |
Lama3 |
G |
A |
18: 12,581,329 (GRCm39) |
C596Y |
probably damaging |
Het |
Lama5 |
T |
C |
2: 179,832,199 (GRCm39) |
H1714R |
probably benign |
Het |
Marchf6 |
C |
T |
15: 31,490,758 (GRCm39) |
V293M |
probably damaging |
Het |
Med12l |
A |
G |
3: 58,945,075 (GRCm39) |
D100G |
probably damaging |
Het |
Mettl14 |
G |
A |
3: 123,165,043 (GRCm39) |
T316I |
probably damaging |
Het |
Mmp15 |
A |
T |
8: 96,098,945 (GRCm39) |
N591Y |
probably benign |
Het |
Mrpl53 |
T |
C |
6: 83,086,518 (GRCm39) |
L74P |
probably damaging |
Het |
Mvp |
C |
T |
7: 126,589,037 (GRCm39) |
V577M |
probably damaging |
Het |
Neb |
T |
C |
2: 52,139,388 (GRCm39) |
K140E |
probably damaging |
Het |
Nfya |
A |
G |
17: 48,706,026 (GRCm39) |
V48A |
possibly damaging |
Het |
Ngf |
G |
T |
3: 102,417,119 (GRCm39) |
|
probably benign |
Het |
Nipsnap3b |
C |
T |
4: 53,017,088 (GRCm39) |
A104V |
possibly damaging |
Het |
Nlrp14 |
A |
G |
7: 106,781,928 (GRCm39) |
Y375C |
probably benign |
Het |
Nod1 |
A |
G |
6: 54,915,202 (GRCm39) |
Y764H |
probably damaging |
Het |
Or13d1 |
A |
T |
4: 52,971,232 (GRCm39) |
I204F |
probably benign |
Het |
Or2w25 |
G |
A |
11: 59,504,320 (GRCm39) |
V177M |
probably damaging |
Het |
Or7e177 |
T |
G |
9: 20,212,387 (GRCm39) |
M297R |
probably damaging |
Het |
Pcdhb19 |
A |
T |
18: 37,630,235 (GRCm39) |
Q10L |
probably benign |
Het |
Pdcl |
T |
C |
2: 37,242,142 (GRCm39) |
I203V |
probably benign |
Het |
Peg10 |
C |
A |
6: 4,755,711 (GRCm39) |
R96S |
possibly damaging |
Het |
Pknox1 |
T |
A |
17: 31,823,764 (GRCm39) |
N379K |
probably benign |
Het |
Prodh |
T |
G |
16: 17,895,677 (GRCm39) |
Q360P |
probably damaging |
Het |
Raf1 |
C |
T |
6: 115,609,934 (GRCm39) |
G202S |
probably benign |
Het |
Rgs11 |
T |
A |
17: 26,426,433 (GRCm39) |
|
probably null |
Het |
Rilp |
A |
T |
11: 75,401,059 (GRCm39) |
H29L |
probably damaging |
Het |
Rtel1 |
T |
C |
2: 180,962,839 (GRCm39) |
C31R |
probably damaging |
Het |
Rubcnl |
T |
A |
14: 75,279,898 (GRCm39) |
I427K |
probably damaging |
Het |
Ryr1 |
C |
A |
7: 28,751,460 (GRCm39) |
R3706L |
probably damaging |
Het |
Ryr2 |
T |
C |
13: 11,729,434 (GRCm39) |
D2396G |
probably damaging |
Het |
Slc45a2 |
T |
C |
15: 11,025,954 (GRCm39) |
S435P |
probably damaging |
Het |
Spata17 |
A |
G |
1: 186,844,798 (GRCm39) |
V111A |
probably damaging |
Het |
Svep1 |
C |
T |
4: 58,116,608 (GRCm39) |
D881N |
possibly damaging |
Het |
Sypl2 |
T |
A |
3: 108,126,411 (GRCm39) |
N67I |
possibly damaging |
Het |
Tenm3 |
T |
C |
8: 48,689,755 (GRCm39) |
Y1944C |
probably damaging |
Het |
Tep1 |
A |
T |
14: 51,062,246 (GRCm39) |
D2535E |
possibly damaging |
Het |
Tkt |
T |
A |
14: 30,294,177 (GRCm39) |
I529N |
probably damaging |
Het |
Trp53i11 |
T |
G |
2: 93,028,080 (GRCm39) |
V39G |
probably damaging |
Het |
Trpm2 |
C |
T |
10: 77,761,659 (GRCm39) |
G997D |
probably damaging |
Het |
Usp3 |
A |
G |
9: 66,447,449 (GRCm39) |
V219A |
possibly damaging |
Het |
Usp4 |
T |
A |
9: 108,268,870 (GRCm39) |
|
probably null |
Het |
Wdfy3 |
A |
G |
5: 102,065,277 (GRCm39) |
V1297A |
probably benign |
Het |
Wdr46 |
T |
A |
17: 34,159,997 (GRCm39) |
F70I |
probably benign |
Het |
Xkr6 |
T |
C |
14: 64,056,998 (GRCm39) |
V303A |
unknown |
Het |
Zdbf2 |
C |
T |
1: 63,343,165 (GRCm39) |
Q515* |
probably null |
Het |
Zfhx2 |
A |
G |
14: 55,310,354 (GRCm39) |
Y731H |
possibly 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 |
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 |
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'- AGGTCACATGACCAGGTTATAAACAGC -3'
(R):5'- GAGCAGCTCAAGAGGCCAGATTAATAC -3'
Sequencing Primer
(F):5'- GCTCTACCACTGATAAGCAAGTATG -3'
(R):5'- TTAATACTCAAGAGCCCTGGAAGTG -3'
|
Posted On |
2013-07-24 |