Mutagenetix > Incidental Mutations

Incidental Mutation 'R5838:Epha1'

449716

Institutional Source

Beutler Lab

Gene Symbol

Epha1

Ensembl Gene

ENSMUSG00000029859

Gene Name

Eph receptor A1

Synonyms

Eph, 5730453L17Rik, Esk

MMRRC Submission

044058-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.154) question?

Stock #

R5838 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

42358487-42373268 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 42361646 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 699 (I699N)

Ref Sequence

ENSEMBL: ENSMUSP00000073099 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070635] [ENSMUST00000073387] [ENSMUST00000164375] [ENSMUST00000203401] [ENSMUST00000203652] [ENSMUST00000204357]

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: ENSMUST00000070635

SMART Domains

Protein: ENSMUSP00000070427
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

probably damaging
Transcript: ENSMUST00000073387
AA Change: I699N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000073099
Gene: ENSMUSG00000029859
AA Change: I699N

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: ENSMUST00000203290

Predicted Effect

probably benign
Transcript: ENSMUST00000203401

SMART Domains

Protein: ENSMUSP00000145236
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	143	155	N/A	INTRINSIC
low complexity region	168	189	N/A	INTRINSIC
low complexity region	219	235	N/A	INTRINSIC
low complexity region	238	252	N/A	INTRINSIC
low complexity region	292	302	N/A	INTRINSIC
low complexity region	312	332	N/A	INTRINSIC
LIM	344	397	2.4e-17	SMART
LIM	404	456	7.39e-18	SMART
LIM	464	526	9.31e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000203652

SMART Domains

Protein: ENSMUSP00000145451
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

probably damaging
Transcript: ENSMUST00000204357
AA Change: I736N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000144763
Gene: ENSMUSG00000029859
AA Change: I736N

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.7%

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 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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	G	A	11: 105,972,880	V385I	probably benign	Het
Apmap	T	C	2: 150,585,857	Y315C	probably damaging	Het
Arhgef12	G	A	9: 43,005,608	T414I	probably damaging	Het
Cd200r1	C	A	16: 44,766,034	A9D	possibly damaging	Het
Cdkal1	T	C	13: 29,691,686	D183G	probably benign	Het
Clk1	C	A	1: 58,412,660	C432F	probably damaging	Het
Col27a1	G	T	4: 63,225,528	L484F	probably damaging	Het
Col7a1	A	G	9: 108,978,143	E2480G	unknown	Het
D430042O09Rik	A	T	7: 125,867,655	M1361L	possibly damaging	Het
Dnah5	A	G	15: 28,290,195	I1244V	probably benign	Het
Dock3	G	T	9: 106,895,488	P522Q	possibly damaging	Het
Drc1	T	A	5: 30,366,513		probably null	Het
Epas1	C	T	17: 86,823,686	T298I	possibly damaging	Het
Ephb3	T	C	16: 21,221,687	S558P	probably damaging	Het
Epn1	T	A	7: 5,097,166	L426*	probably null	Het
Fam234b	T	C	6: 135,225,267	V329A	probably benign	Het
Fasn	G	T	11: 120,816,124	R901S	probably damaging	Het
Fbln2	T	C	6: 91,271,848	M1165T	possibly damaging	Het
Fer1l4	T	C	2: 156,051,993	R103G	probably benign	Het
G6pd2	T	A	5: 61,809,225	D114E	probably benign	Het
Galnt10	A	G	11: 57,781,056	K391E	probably damaging	Het
Gpr150	C	A	13: 76,055,926	C300F	probably benign	Het
Hhipl2	A	G	1: 183,423,571	T151A	probably damaging	Het
Hmcn2	C	A	2: 31,457,807	L4822M	probably damaging	Het
Ifi207	T	A	1: 173,732,387	Q173L	unknown	Het
Inca1	T	C	11: 70,689,881	E86G	probably damaging	Het
Iqca	A	G	1: 90,144,945	L71P	probably benign	Het
Kank2	G	T	9: 21,795,393	Q110K	probably damaging	Het
Kif13b	A	T	14: 64,737,555	M407L	probably damaging	Het
Kif5a	A	C	10: 127,245,441	I208S	probably damaging	Het
Kmt2c	T	C	5: 25,284,471	K4490R	probably damaging	Het
Ltbp2	C	T	12: 84,789,101	R1352H	probably benign	Het
Macf1	T	C	4: 123,452,154	Q2061R	possibly damaging	Het
Marcks	A	G	10: 37,136,167	S291P	probably benign	Het
Mccc1	A	G	3: 35,985,082	V254A	possibly damaging	Het
Mdn1	C	T	4: 32,754,547	R4683W	probably damaging	Het
Mon2	A	G	10: 123,010,492		probably null	Het
Ndrg4	A	T	8: 95,706,793	H134L	probably damaging	Het
Nek7	C	A	1: 138,534,363		probably null	Het
Nlrc3	C	T	16: 3,953,995	S151N	probably damaging	Het
Nsl1	C	A	1: 191,070,113	A146E	probably benign	Het
Olfr1391	A	C	11: 49,327,933	N174T	probably damaging	Het
Olfr1477	T	A	19: 13,502,558	Y72N	probably damaging	Het
Olfr519	A	T	7: 108,894,085	F107L	probably benign	Het
Olfr655	A	G	7: 104,596,897	Y95H	probably benign	Het
Olfr800	A	T	10: 129,660,038	R77S	probably benign	Het
Pde4d	A	C	13: 109,740,442	S41R	probably damaging	Het
Phlpp1	T	A	1: 106,347,132	L875*	probably null	Het
Pkd1	T	A	17: 24,580,212	S2802T	possibly damaging	Het
Polr3b	A	G	10: 84,674,590	T500A	probably benign	Het
Ppp2r2c	T	C	5: 36,940,187	V239A	probably benign	Het
Pramef6	A	G	4: 143,896,920	V228A	probably benign	Het
Reln	T	A	5: 21,899,113	I3287F	probably damaging	Het
Scube2	T	C	7: 109,808,444	D763G	probably damaging	Het
Setd5	T	C	6: 113,119,435	V534A	probably benign	Het
Slc10a4	T	A	5: 73,012,030	C333S	probably benign	Het
Slc15a1	G	A	14: 121,484,871	A206V	probably damaging	Het
Snx14	A	G	9: 88,391,776	L654P	probably damaging	Het
Sowahc	G	A	10: 59,223,190	A383T	possibly damaging	Het
Taf1b	A	G	12: 24,500,449	D11G	possibly damaging	Het
Tap1	C	T	17: 34,193,305	Q164*	probably null	Het
Tbcel	T	A	9: 42,415,872	R430W	probably damaging	Het
Trappc11	A	T	8: 47,512,559		probably null	Het
Trim15	T	C	17: 36,862,840	I259V	probably damaging	Het
Trpt1	T	C	19: 6,998,300	S141P	probably damaging	Het
Tsc2	T	A	17: 24,613,216	Q732L	probably benign	Het
Tstd3	C	A	4: 21,759,622		probably null	Het
Unc13d	T	C	11: 116,064,625	K914R	possibly damaging	Het
Unk	A	G	11: 116,049,331	E170G	probably damaging	Het
Uqcc2	T	A	17: 27,125,886	K62*	probably null	Het
Vim	A	G	2: 13,580,190	D394G	probably damaging	Het
Wdr47	G	A	3: 108,624,736		probably null	Het

Other mutations in Epha1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01591:Epha1	APN	6	42360551	missense	probably damaging	1.00
IGL02388:Epha1	APN	6	42365016	missense	probably damaging	1.00
IGL02614:Epha1	APN	6	42360557	missense	probably benign	0.02
IGL03019:Epha1	APN	6	42362752	missense	probably damaging	1.00
buddy	UTSW	6	42361451	missense	probably damaging	1.00
R0369:Epha1	UTSW	6	42365473	missense	probably damaging	1.00
R0894:Epha1	UTSW	6	42363822	missense	probably benign	0.45
R1353:Epha1	UTSW	6	42361837	missense	probably damaging	0.99
R1451:Epha1	UTSW	6	42361451	missense	probably damaging	1.00
R1840:Epha1	UTSW	6	42363588	missense	probably damaging	0.99
R2064:Epha1	UTSW	6	42366053	missense	probably benign	0.01
R2065:Epha1	UTSW	6	42366053	missense	probably benign	0.01
R2067:Epha1	UTSW	6	42366053	missense	probably benign	0.01
R2087:Epha1	UTSW	6	42363568	missense	probably benign	0.01
R3691:Epha1	UTSW	6	42361130	missense	probably damaging	1.00
R3952:Epha1	UTSW	6	42364285	missense	probably damaging	0.99
R4111:Epha1	UTSW	6	42358838	missense	possibly damaging	0.88
R4280:Epha1	UTSW	6	42365052	missense	probably damaging	1.00
R4369:Epha1	UTSW	6	42365457	missense	probably damaging	1.00
R4371:Epha1	UTSW	6	42365457	missense	probably damaging	1.00
R4491:Epha1	UTSW	6	42360666	missense	probably damaging	1.00
R4743:Epha1	UTSW	6	42372221	missense	probably benign	0.00
R4838:Epha1	UTSW	6	42363816	missense	probably benign	0.04
R4847:Epha1	UTSW	6	42361914	missense	possibly damaging	0.88
R4857:Epha1	UTSW	6	42361482	missense	probably benign	0.00
R4884:Epha1	UTSW	6	42360734	missense	probably damaging	0.99
R4929:Epha1	UTSW	6	42364599	missense	probably benign	0.05
R5239:Epha1	UTSW	6	42365010	missense	possibly damaging	0.87
R5416:Epha1	UTSW	6	42365871	missense	probably damaging	1.00
R5595:Epha1	UTSW	6	42364634	missense	possibly damaging	0.78
R6395:Epha1	UTSW	6	42366172	missense	probably damaging	1.00
R6594:Epha1	UTSW	6	42364691	missense	probably benign
R6639:Epha1	UTSW	6	42365935	nonsense	probably null
R7092:Epha1	UTSW	6	42364245	missense	probably benign	0.36
R7569:Epha1	UTSW	6	42365422	missense	possibly damaging	0.70
R7705:Epha1	UTSW	6	42362668	missense	probably damaging	0.99
R7802:Epha1	UTSW	6	42361941	missense	possibly damaging	0.88
R8306:Epha1	UTSW	6	42358788	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- CTGATGCTATGCCCAGTAGC -3'
(R):5'- ATCATGGGCCAGTTCAACC -3'

Sequencing Primer
(F):5'- TAGCTGACCAGGAGCTAGTTG -3'
(R):5'- GTTCAACCACCCACACATTCTACG -3'

Posted On

2016-12-20