Mutagenetix > Incidental Mutation

Incidental Mutation 'R0894:Epha1'

83653

Institutional Source

Beutler Lab

Gene Symbol

Epha1

Ensembl Gene

ENSMUSG00000029859

Gene Name

Eph receptor A1

Synonyms

Esk, 5730453L17Rik, Eph

MMRRC Submission

039057-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.142) question?

Stock #

R0894 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42335421-42350202 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 42340756 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 568 (V568A)

Ref Sequence

ENSEMBL: ENSMUSP00000073099 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073387] [ENSMUST00000164375] [ENSMUST00000204357]

AlphaFold

Q60750

PDB Structure

The solution structure of the second fibronectin type III domain of mouse Ephrin type-A receptor 1 [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000073387
AA Change: V568A

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000073099
Gene: ENSMUSG00000029859
AA Change: V568A

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
EPH_lbd	28	205	3.23e-103	SMART
FN3	334	430	8.43e-9	SMART
FN3	448	526	1.59e-4	SMART
Pfam:EphA2_TM	549	622	3.4e-13	PFAM
TyrKc	625	881	2.57e-126	SMART
SAM	911	977	4.13e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000164375

SMART Domains

Protein: ENSMUSP00000126622
Gene: ENSMUSG00000029860

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
low complexity region	21	36	N/A	INTRINSIC
low complexity region	61	84	N/A	INTRINSIC
low complexity region	92	131	N/A	INTRINSIC
low complexity region	144	158	N/A	INTRINSIC
low complexity region	174	186	N/A	INTRINSIC
low complexity region	199	220	N/A	INTRINSIC
low complexity region	250	266	N/A	INTRINSIC
low complexity region	269	283	N/A	INTRINSIC
low complexity region	323	333	N/A	INTRINSIC
low complexity region	343	363	N/A	INTRINSIC
LIM	375	428	2.4e-17	SMART
LIM	435	487	7.39e-18	SMART
LIM	495	557	9.31e-15	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204238

Predicted Effect

probably benign
Transcript: ENSMUST00000204357
AA Change: V605A

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000144763
Gene: ENSMUSG00000029859
AA Change: V605A

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
EPH_lbd	28	205	1.1e-105	SMART
FN3	334	430	4.2e-11	SMART
low complexity region	459	473	N/A	INTRINSIC
FN3	483	563	2.4e-8	SMART
Pfam:EphA2_TM	586	659	7.6e-11	PFAM
STYKc	662	849	1.1e-65	SMART
SAM	879	945	2.5e-21	SMART

Meta Mutation Damage Score

0.1309

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.7%
20x: 95.8%

Validation Efficiency

97% (102/105)

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 is expressed in some human cancer cell lines and has been implicated in carcinogenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Most mice homozygous for a null allele exhibit a kinked tail while 18% of mice exhibit vagina atresia with hydrometrocolops and infertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	G	13: 77,471,726 (GRCm39)	S1044G	probably benign	Het
Aanat	A	G	11: 116,487,730 (GRCm39)	H143R	probably benign	Het
Abca8a	A	G	11: 109,941,792 (GRCm39)	I1159T	probably benign	Het
Abcb1a	G	T	5: 8,724,856 (GRCm39)		probably benign	Het
Abcc1	T	C	16: 14,283,001 (GRCm39)	V1159A	possibly damaging	Het
Akr1e1	T	A	13: 4,645,071 (GRCm39)	Q204L	probably damaging	Het
Alk	T	C	17: 72,202,930 (GRCm39)	Y1135C	probably damaging	Het
Atad2b	C	T	12: 5,015,915 (GRCm39)	T547I	probably damaging	Het
Brd10	T	C	19: 29,697,974 (GRCm39)		probably benign	Het
C030005K15Rik	A	T	10: 97,561,648 (GRCm39)	S28T	unknown	Het
Cdk5rap3	A	G	11: 96,799,654 (GRCm39)	L387P	probably damaging	Het
Cfap95	T	C	19: 23,630,062 (GRCm39)	E10G	unknown	Het
Cfap96	A	G	8: 46,409,497 (GRCm39)	F274S	probably damaging	Het
Clec4f	T	A	6: 83,629,979 (GRCm39)	N193I	probably damaging	Het
Col4a4	A	T	1: 82,507,377 (GRCm39)		probably null	Het
Cplx4	T	G	18: 66,090,116 (GRCm39)	D101A	possibly damaging	Het
Cpne8	A	T	15: 90,533,474 (GRCm39)	D50E	probably damaging	Het
Csmd3	G	T	15: 47,721,316 (GRCm39)	D1542E	possibly damaging	Het
Ctdp1	A	G	18: 80,512,736 (GRCm39)	V9A	probably benign	Het
Ctnnd2	A	T	15: 30,332,301 (GRCm39)		probably benign	Het
Cyp7b1	C	T	3: 18,151,674 (GRCm39)	A180T	probably benign	Het
Dcun1d5	C	T	9: 7,203,379 (GRCm39)		probably benign	Het
Dgat1	G	T	15: 76,387,199 (GRCm39)	L363I	possibly damaging	Het
Dipk2b	T	A	X: 18,289,791 (GRCm39)	I224F	possibly damaging	Het
Dlg1	T	A	16: 31,561,965 (GRCm39)	H120Q	probably benign	Het
Dnah6	T	C	6: 73,101,740 (GRCm39)	N1928S	probably benign	Het
Dnai4	T	C	4: 102,906,583 (GRCm39)		probably benign	Het
Dync2h1	A	T	9: 7,041,734 (GRCm39)		probably benign	Het
Ednra	T	G	8: 78,446,649 (GRCm39)		probably benign	Het
Efcab6	A	T	15: 83,802,493 (GRCm39)	C845S	probably benign	Het
Egln1	A	T	8: 125,642,435 (GRCm39)	C303S	probably damaging	Het
Eomes	T	C	9: 118,311,368 (GRCm39)		probably null	Het
Ercc6	T	A	14: 32,238,985 (GRCm39)	N24K	probably benign	Het
Esco2	T	C	14: 66,064,726 (GRCm39)	Q338R	probably benign	Het
Fbxo46	T	C	7: 18,869,654 (GRCm39)	V91A	probably damaging	Het
Fryl	A	T	5: 73,198,675 (GRCm39)		probably benign	Het
Gab3	A	C	X: 74,077,024 (GRCm39)	D43E	probably damaging	Het
Gltpd2	T	A	11: 70,410,535 (GRCm39)		probably benign	Het
Gm17333	G	T	16: 77,649,711 (GRCm39)		noncoding transcript	Het
Gm7353	T	C	7: 3,160,570 (GRCm39)		noncoding transcript	Het
Grik4	T	C	9: 42,599,405 (GRCm39)		probably benign	Het
Gtpbp2	G	T	17: 46,476,895 (GRCm39)	A358S	possibly damaging	Het
Hyls1	C	T	9: 35,472,528 (GRCm39)	C296Y	probably damaging	Het
Igf2r	C	T	17: 12,910,988 (GRCm39)	M1943I	probably benign	Het
Iqca1l	T	C	5: 24,755,731 (GRCm39)		probably null	Het
Ireb2	T	A	9: 54,803,861 (GRCm39)	N517K	probably damaging	Het
Itga10	A	G	3: 96,560,976 (GRCm39)	S614G	possibly damaging	Het
Kdm2b	A	G	5: 123,122,523 (GRCm39)		probably null	Het
Kif17	T	C	4: 138,025,542 (GRCm39)	M948T	possibly damaging	Het
Klhl33	A	T	14: 51,129,583 (GRCm39)	N347K	probably damaging	Het
Llph	T	A	10: 120,064,086 (GRCm39)	C67*	probably null	Het
Lrrn3	T	C	12: 41,504,033 (GRCm39)	T95A	probably damaging	Het
Map3k12	C	A	15: 102,410,613 (GRCm39)	A455S	probably damaging	Het
Mex3d	T	C	10: 80,217,376 (GRCm39)	T149A	probably benign	Het
Myo7b	A	G	18: 32,133,123 (GRCm39)	W409R	probably damaging	Het
Nbea	A	G	3: 55,916,761 (GRCm39)	M833T	possibly damaging	Het
Ncapg	A	G	5: 45,837,236 (GRCm39)	T436A	probably null	Het
Nkx1-2	C	A	7: 132,201,042 (GRCm39)	D72Y	probably null	Het
Or11g27	T	C	14: 50,771,159 (GRCm39)	S97P	possibly damaging	Het
Or2d3b	T	A	7: 106,514,317 (GRCm39)	I304K	probably benign	Het
Or6c217	T	A	10: 129,737,751 (GRCm39)	N276I	probably damaging	Het
Pcdh15	A	G	10: 74,460,087 (GRCm39)	Y1308C	probably damaging	Het
Pcnx2	A	G	8: 126,613,665 (GRCm39)		probably benign	Het
Pcsk1	G	A	13: 75,246,096 (GRCm39)	G158D	probably damaging	Het
Phkb	A	T	8: 86,744,070 (GRCm39)	D573V	probably damaging	Het
Pik3r4	A	G	9: 105,544,970 (GRCm39)	K150E	possibly damaging	Het
Ppp2r5e	C	G	12: 75,516,341 (GRCm39)	A239P	probably damaging	Het
Ppp4r4	C	T	12: 103,566,754 (GRCm39)	A67V	probably damaging	Het
Prex2	A	G	1: 11,252,122 (GRCm39)	T1056A	probably benign	Het
Prkca	A	T	11: 107,903,518 (GRCm39)	Y285N	possibly damaging	Het
Psd	T	C	19: 46,301,880 (GRCm39)	E903G	probably damaging	Het
Psg19	T	C	7: 18,527,987 (GRCm39)	E252G	probably benign	Het
Psg20	T	A	7: 18,414,969 (GRCm39)	K306*	probably null	Het
Pygl	T	G	12: 70,241,148 (GRCm39)		probably benign	Het
Rasgrf2	A	G	13: 92,130,890 (GRCm39)	S724P	probably damaging	Het
Reck	C	A	4: 43,922,967 (GRCm39)	A414D	probably damaging	Het
Scn10a	C	A	9: 119,459,213 (GRCm39)	V1150L	probably damaging	Het
Shc2	A	T	10: 79,465,751 (GRCm39)	I187N	probably damaging	Het
Sipa1l3	T	A	7: 29,086,716 (GRCm39)	K625*	probably null	Het
Slc44a4	T	C	17: 35,147,466 (GRCm39)	L583P	possibly damaging	Het
Slc5a11	G	C	7: 122,857,643 (GRCm39)	R244P	possibly damaging	Het
Slfn8	T	A	11: 82,894,407 (GRCm39)	Q744L	probably benign	Het
Snx2	G	T	18: 53,309,488 (GRCm39)	V13L	probably benign	Het
Spmip5	A	T	19: 58,776,015 (GRCm39)	L138Q	probably damaging	Het
Spsb1	C	T	4: 149,990,872 (GRCm39)		probably null	Het
Stfa2l1	A	T	16: 35,977,228 (GRCm39)	I8L	probably benign	Het
Svil	G	T	18: 5,097,494 (GRCm39)	R1659L	probably damaging	Het
Tbccd1	A	T	16: 22,640,995 (GRCm39)	L461M	probably benign	Het
Tmem9	A	T	1: 135,961,926 (GRCm39)	T174S	possibly damaging	Het
Tnks2	T	C	19: 36,867,450 (GRCm39)		probably null	Het
Tnrc18	C	A	5: 142,800,869 (GRCm39)	V30L	probably benign	Het
Tomm7	A	G	5: 24,049,025 (GRCm39)	F16S	probably damaging	Het
Ttf2	A	G	3: 100,876,865 (GRCm39)		probably benign	Het
Ubr7	C	A	12: 102,735,450 (GRCm39)	T303N	probably damaging	Het
Ushbp1	A	T	8: 71,842,868 (GRCm39)		probably null	Het
Vmn1r177	C	A	7: 23,565,475 (GRCm39)	V134F	probably benign	Het
Vmn2r12	A	G	5: 109,235,716 (GRCm39)		probably null	Het
Vmn2r53	T	G	7: 12,335,141 (GRCm39)	H173P	probably benign	Het
Yars1	A	T	4: 129,090,948 (GRCm39)	M119L	probably damaging	Het
Zcrb1	A	T	15: 93,295,038 (GRCm39)		probably benign	Het
Zfp267	T	A	3: 36,218,935 (GRCm39)	Y319*	probably null	Het
Zfp319	C	A	8: 96,056,250 (GRCm39)		probably benign	Het
Zfp783	C	G	6: 47,920,320 (GRCm39)		noncoding transcript	Het
Zfyve26	A	G	12: 79,320,372 (GRCm39)	I1024T	possibly damaging	Het

Other mutations in Epha1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01591:Epha1	APN	6	42,337,485 (GRCm39)	missense	probably damaging	1.00
IGL02388:Epha1	APN	6	42,341,950 (GRCm39)	missense	probably damaging	1.00
IGL02614:Epha1	APN	6	42,337,491 (GRCm39)	missense	probably benign	0.02
IGL03019:Epha1	APN	6	42,339,686 (GRCm39)	missense	probably damaging	1.00
buddy	UTSW	6	42,338,385 (GRCm39)	missense	probably damaging	1.00
R0369:Epha1	UTSW	6	42,342,407 (GRCm39)	missense	probably damaging	1.00
R1353:Epha1	UTSW	6	42,338,771 (GRCm39)	missense	probably damaging	0.99
R1451:Epha1	UTSW	6	42,338,385 (GRCm39)	missense	probably damaging	1.00
R1840:Epha1	UTSW	6	42,340,522 (GRCm39)	missense	probably damaging	0.99
R2064:Epha1	UTSW	6	42,342,987 (GRCm39)	missense	probably benign	0.01
R2065:Epha1	UTSW	6	42,342,987 (GRCm39)	missense	probably benign	0.01
R2067:Epha1	UTSW	6	42,342,987 (GRCm39)	missense	probably benign	0.01
R2087:Epha1	UTSW	6	42,340,502 (GRCm39)	missense	probably benign	0.01
R3691:Epha1	UTSW	6	42,338,064 (GRCm39)	missense	probably damaging	1.00
R3952:Epha1	UTSW	6	42,341,219 (GRCm39)	missense	probably damaging	0.99
R4111:Epha1	UTSW	6	42,335,772 (GRCm39)	missense	possibly damaging	0.88
R4280:Epha1	UTSW	6	42,341,986 (GRCm39)	missense	probably damaging	1.00
R4369:Epha1	UTSW	6	42,342,391 (GRCm39)	missense	probably damaging	1.00
R4371:Epha1	UTSW	6	42,342,391 (GRCm39)	missense	probably damaging	1.00
R4491:Epha1	UTSW	6	42,337,600 (GRCm39)	missense	probably damaging	1.00
R4743:Epha1	UTSW	6	42,349,155 (GRCm39)	missense	probably benign	0.00
R4838:Epha1	UTSW	6	42,340,750 (GRCm39)	missense	probably benign	0.04
R4847:Epha1	UTSW	6	42,338,848 (GRCm39)	missense	possibly damaging	0.88
R4857:Epha1	UTSW	6	42,338,416 (GRCm39)	missense	probably benign	0.00
R4884:Epha1	UTSW	6	42,337,668 (GRCm39)	missense	probably damaging	0.99
R4929:Epha1	UTSW	6	42,341,533 (GRCm39)	missense	probably benign	0.05
R5239:Epha1	UTSW	6	42,341,944 (GRCm39)	missense	possibly damaging	0.87
R5416:Epha1	UTSW	6	42,342,805 (GRCm39)	missense	probably damaging	1.00
R5595:Epha1	UTSW	6	42,341,568 (GRCm39)	missense	possibly damaging	0.78
R5838:Epha1	UTSW	6	42,338,580 (GRCm39)	missense	probably damaging	1.00
R6395:Epha1	UTSW	6	42,343,106 (GRCm39)	missense	probably damaging	1.00
R6594:Epha1	UTSW	6	42,341,625 (GRCm39)	missense	probably benign
R6639:Epha1	UTSW	6	42,342,869 (GRCm39)	nonsense	probably null
R7092:Epha1	UTSW	6	42,341,179 (GRCm39)	missense	probably benign	0.36
R7569:Epha1	UTSW	6	42,342,356 (GRCm39)	missense	possibly damaging	0.70
R7705:Epha1	UTSW	6	42,339,602 (GRCm39)	missense	probably damaging	0.99
R7802:Epha1	UTSW	6	42,338,875 (GRCm39)	missense	possibly damaging	0.88
R8306:Epha1	UTSW	6	42,335,722 (GRCm39)	missense	probably damaging	0.97
R8835:Epha1	UTSW	6	42,342,723 (GRCm39)	missense	probably benign	0.00
R8881:Epha1	UTSW	6	42,337,961 (GRCm39)	missense	probably damaging	1.00
R9251:Epha1	UTSW	6	42,341,777 (GRCm39)	missense	probably damaging	1.00
R9525:Epha1	UTSW	6	42,344,758 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTGGCTGAATTTGCCACAGACAC -3'
(R):5'- ACCATGAGTTTCGGACAAGCCCAC -3'

Sequencing Primer
(F):5'- TTTGCCACAGACACGAGAG -3'
(R):5'- TCTCATGCACGTAATGGGC -3'

Posted On

2013-11-08