Mutagenetix > Incidental Mutation

Incidental Mutation 'R1160:Epha3'

100363

Institutional Source

Beutler Lab

Gene Symbol

Epha3

Ensembl Gene

ENSMUSG00000052504

Gene Name

Eph receptor A3

Synonyms

End3, Tyro4, Cek4, Hek, Hek4, Mek4

MMRRC Submission

039233-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.273) question?

Stock #

R1160 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

63363897-63684538 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 63593431 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 219 (D219A)

Ref Sequence

ENSEMBL: ENSMUSP00000155946 (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: D219A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000066554
Gene: ENSMUSG00000052504
AA Change: D219A

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: D219A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000232461

Predicted Effect

possibly damaging
Transcript: ENSMUST00000232654
AA Change: D219A

PolyPhen 2 Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)

Coding Region Coverage

1x: 98.6%
3x: 97.3%
10x: 92.7%
20x: 81.6%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap1	G	T	1: 89,770,876 (GRCm39)	K622N	probably damaging	Het
Ap3b2	A	T	7: 81,115,917 (GRCm39)		probably null	Het
Arl5b	T	C	2: 15,074,648 (GRCm39)	V43A	probably benign	Het
Astn1	T	C	1: 158,427,935 (GRCm39)	V702A	possibly damaging	Het
Bach1	T	C	16: 87,512,322 (GRCm39)	V15A	probably benign	Het
Cacna1c	C	T	6: 118,589,586 (GRCm39)	R1446H	probably damaging	Het
Ccar2	C	T	14: 70,377,218 (GRCm39)	V774M	probably benign	Het
Dcaf5	T	C	12: 80,386,989 (GRCm39)	D379G	possibly damaging	Het
Dcpp1	T	A	17: 24,100,405 (GRCm39)	I45K	possibly damaging	Het
Ddx17	T	A	15: 79,425,288 (GRCm39)	S128C	probably damaging	Het
Eml3	A	G	19: 8,910,614 (GRCm39)	N192S	probably benign	Het
Fhod3	C	T	18: 25,118,293 (GRCm39)	A210V	probably damaging	Het
Khdc4	C	A	3: 88,616,169 (GRCm39)	P452Q	probably damaging	Het
Klhl5	A	G	5: 65,298,683 (GRCm39)	N154S	probably benign	Het
Lrif1	A	G	3: 106,640,033 (GRCm39)	N373D	possibly damaging	Het
Map3k20	A	G	2: 72,271,864 (GRCm39)	N664S	probably benign	Het
Or52z15	A	G	7: 103,332,068 (GRCm39)	N38D	possibly damaging	Het
Parp14	G	A	16: 35,677,130 (GRCm39)	A946V	probably benign	Het
Pdia3	G	A	2: 121,262,858 (GRCm39)	G275S	probably damaging	Het
Pglyrp4	T	A	3: 90,636,138 (GRCm39)		probably null	Het
Pole	A	G	5: 110,443,119 (GRCm39)	E349G	possibly damaging	Het
Ptprj	A	G	2: 90,274,868 (GRCm39)	Y1165H	probably damaging	Het
Rasd1	T	A	11: 59,855,547 (GRCm39)	I29F	possibly damaging	Het
Scamp3	T	C	3: 89,088,505 (GRCm39)	F237S	probably damaging	Het
Sccpdh	T	G	1: 179,511,775 (GRCm39)	D82E	probably benign	Het
Slc19a3	A	C	1: 83,000,413 (GRCm39)	H201Q	possibly damaging	Het
Slc5a4a	G	A	10: 76,013,995 (GRCm39)	A401T	possibly damaging	Het
Snupn	T	G	9: 56,864,389 (GRCm39)	C29W	probably benign	Het
Sorbs2	A	G	8: 46,223,613 (GRCm39)	Y222C	probably damaging	Het
Sox17	A	T	1: 4,562,075 (GRCm39)	V310E	probably damaging	Het
Srgap1	T	A	10: 121,691,382 (GRCm39)	Y284F	probably benign	Het
Srpk1	C	A	17: 28,818,748 (GRCm39)	V363F	probably benign	Het
Syt13	T	A	2: 92,773,387 (GRCm39)		probably null	Het
Taf2	A	G	15: 54,934,793 (GRCm39)	V45A	probably benign	Het
Tal1	A	T	4: 114,925,813 (GRCm39)	D294V	probably damaging	Het
Tbl2	A	G	5: 135,188,246 (GRCm39)	T347A	probably benign	Het
Tet3	A	G	6: 83,381,434 (GRCm39)	S110P	probably benign	Het
Tmem132a	A	G	19: 10,835,938 (GRCm39)	V864A	probably damaging	Het
Trak1	T	C	9: 121,221,073 (GRCm39)	I80T	probably benign	Het
Trappc6b	G	A	12: 59,097,064 (GRCm39)	T86I	probably damaging	Het
Usf3	T	A	16: 44,038,910 (GRCm39)	I1130N	probably damaging	Het
Xirp2	T	C	2: 67,340,231 (GRCm39)	V824A	possibly damaging	Het
Zfp810	T	C	9: 22,189,828 (GRCm39)	Y360C	possibly damaging	Het
Zmiz1	T	A	14: 25,654,936 (GRCm39)	V685E	probably damaging	Het
Zp2	A	T	7: 119,735,268 (GRCm39)	D368E	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
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

Posted On

2014-01-15