Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00773:Epha3'

12602

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Epha3

Ensembl Gene

ENSMUSG00000052504

Gene Name

Eph receptor A3

Synonyms

End3, Tyro4, Cek4, Hek, Hek4, Mek4

Accession Numbers

Essential gene?

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

Stock #

IGL00773

Quality Score

Status

Chromosome

Chromosomal Location

63363897-63684538 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 63387047 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 862 (Q862L)

Ref Sequence

ENSEMBL: ENSMUSP00000155946 (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: Q863L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000066554
Gene: ENSMUSG00000052504
AA Change: Q863L

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: Q862L

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

Coding Region Coverage

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actc1	T	C	2: 113,878,594 (GRCm39)		probably benign	Het
Aff1	C	T	5: 103,931,943 (GRCm39)	S195F	probably damaging	Het
Atm	G	T	9: 53,433,444 (GRCm39)	H269N	probably benign	Het
Cdc25c	A	T	18: 34,880,294 (GRCm39)	S147T	probably benign	Het
Cdnf	A	G	2: 3,520,392 (GRCm39)	D57G	possibly damaging	Het
Cep170	T	C	1: 176,582,965 (GRCm39)	D1138G	probably damaging	Het
Cfap70	A	G	14: 20,497,602 (GRCm39)	S51P	probably damaging	Het
Csmd3	A	G	15: 47,454,115 (GRCm39)	M3577T	probably damaging	Het
Cyb5rl	C	T	4: 106,941,493 (GRCm39)	A246V	probably benign	Het
Dcaf1	T	A	9: 106,735,532 (GRCm39)	S827T	probably benign	Het
Gm57858	A	G	3: 36,089,486 (GRCm39)	L146P	probably damaging	Het
Igsf10	A	G	3: 59,238,960 (GRCm39)	V407A	probably benign	Het
Myh2	T	C	11: 67,085,247 (GRCm39)	I1751T	probably benign	Het
Pcm1	T	C	8: 41,727,314 (GRCm39)	L528P	probably damaging	Het
Pla2g7	T	G	17: 43,913,762 (GRCm39)	I235S	probably damaging	Het
Plekhh2	C	T	17: 84,914,296 (GRCm39)	T1233M	probably benign	Het
Ptpn21	C	T	12: 98,654,572 (GRCm39)	M798I	probably benign	Het
Ptprz1	A	G	6: 23,002,628 (GRCm39)	K1573E	probably benign	Het
Rassf6	C	T	5: 90,751,999 (GRCm39)	V272M	probably damaging	Het
Rprd2	A	T	3: 95,672,421 (GRCm39)	F994Y	probably damaging	Het
Slc13a1	C	T	6: 24,118,016 (GRCm39)	M240I	possibly damaging	Het
Slc22a6	A	T	19: 8,599,232 (GRCm39)	I288F	probably benign	Het
Slc6a3	T	A	13: 73,692,860 (GRCm39)	I160N	probably damaging	Het
Slfn10-ps	T	A	11: 82,926,355 (GRCm39)		noncoding transcript	Het
Snx14	A	T	9: 88,276,592 (GRCm39)	D564E	probably damaging	Het
Tceanc	T	A	X: 165,285,857 (GRCm39)	L179F	probably benign	Het
Tpm2	T	C	4: 43,518,251 (GRCm39)	K251E	probably damaging	Het
Trpm2	T	A	10: 77,785,048 (GRCm39)	R191*	probably null	Het
Trpm3	T	A	19: 22,877,523 (GRCm39)	M602K	possibly damaging	Het
Zbtb21	A	T	16: 97,753,520 (GRCm39)	D282E	probably benign	Het

Other mutations in Epha3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2012-12-06