Mutagenetix > Incidental Mutations

Incidental Mutation 'R4491:Epha1'

330723

Institutional Source

Beutler Lab

Gene Symbol

Epha1

Ensembl Gene

ENSMUSG00000029859

Gene Name

Eph receptor A1

Synonyms

Eph, 5730453L17Rik, Esk

MMRRC Submission

041747-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.166) question?

Stock #

R4491 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42358487-42373268 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 42360666 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 860 (M860V)

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: M860V

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

SMART Domains

Protein: ENSMUSP00000073099
Gene: ENSMUSG00000029859
AA Change: M860V

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

noncoding transcript
Transcript: ENSMUST00000204270

Predicted Effect

probably damaging
Transcript: ENSMUST00000204357
AA Change: M828V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144763
Gene: ENSMUSG00000029859
AA Change: M828V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204480

Meta Mutation Damage Score

0.5277

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (64/65)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	C	A	5: 63,898,469	P183T	probably damaging	Het
6430573F11Rik	G	A	8: 36,505,606	C70Y	probably damaging	Het
Bcan	G	A	3: 87,990,233	R682*	probably null	Het
Bzw1	T	A	1: 58,404,259	L410Q	probably damaging	Het
Cdh5	A	T	8: 104,113,040	I48F	probably damaging	Het
Cdhr5	T	C	7: 141,274,057	N173D	possibly damaging	Het
Cfap74	T	C	4: 155,429,171	M480T	probably benign	Het
Col6a5	C	T	9: 105,940,012	A367T	unknown	Het
Colca2	A	G	9: 51,270,655	F206L	probably benign	Het
Cpsf1	A	C	15: 76,597,722	Y1064D	possibly damaging	Het
Defb6	A	T	8: 19,228,074	H54L	probably benign	Het
Dmtf1	A	G	5: 9,140,379		probably benign	Het
Dnah12	T	C	14: 26,734,603	L827S	possibly damaging	Het
Dsc3	T	C	18: 20,001,865	T21A	probably benign	Het
Epb41l1	G	T	2: 156,522,168	D866Y	probably benign	Het
Far2	T	C	6: 148,173,409	L380P	possibly damaging	Het
Fgd5	A	G	6: 91,989,299	I680V	possibly damaging	Het
Fnbp4	T	C	2: 90,752,968		probably null	Het
Focad	G	A	4: 88,359,905		probably null	Het
Gm14180	T	A	11: 99,730,313		probably benign	Het
Hbb-bh2	T	C	7: 103,840,415	T5A	probably benign	Het
Ighv7-2	A	G	12: 113,912,480	F2L	probably benign	Het
Igsf5	A	G	16: 96,364,081	T19A	probably benign	Het
Kcnd3	C	T	3: 105,658,766	A421V	probably damaging	Het
Klb	A	G	5: 65,375,794	N482S	probably benign	Het
Lipo2	A	C	19: 33,721,700	L310R	probably damaging	Het
Mc3r	A	G	2: 172,249,203	H115R	possibly damaging	Het
Meioc	A	G	11: 102,674,920	D398G	possibly damaging	Het
Olfr1130	G	A	2: 87,607,392	M1I	probably null	Het
Olfr1353	T	C	10: 78,970,317	S223P	probably damaging	Het
Olfr683	A	T	7: 105,143,776	C172*	probably null	Het
Pds5a	T	C	5: 65,635,437	T718A	probably benign	Het
Pdzd2	C	T	15: 12,385,637	D1016N	possibly damaging	Het
Pla2g2c	T	C	4: 138,734,408		probably null	Het
Plch1	T	C	3: 63,740,739	I404V	probably damaging	Het
Ppp2r5c	A	T	12: 110,580,522	D522V	possibly damaging	Het
Prex2	T	A	1: 11,162,263	S851R	probably benign	Het
Rapgef1	C	T	2: 29,719,656	P702S	possibly damaging	Het
Rasal3	T	A	17: 32,391,385	D976V	probably damaging	Het
Rasef	A	C	4: 73,734,503	L587R	probably damaging	Het
Rptn	A	T	3: 93,396,511	R384*	probably null	Het
Sema6a	G	A	18: 47,306,457		probably benign	Het
Sycp2	G	T	2: 178,374,985	T608K	probably damaging	Het
Syde1	C	T	10: 78,590,228	R35H	probably benign	Het
Taf1	G	T	X: 101,543,059	M313I	possibly damaging	Het
Taf15	A	T	11: 83,484,694	T31S	probably benign	Het
Tktl2	T	C	8: 66,512,012	V74A	probably damaging	Het
Tle4	A	G	19: 14,454,865	V489A	probably damaging	Het
Tmem30a	T	C	9: 79,777,285	H95R	probably damaging	Het
Vmn1r75	C	A	7: 11,880,982	Q214K	probably damaging	Het
Vps13c	C	T	9: 67,910,193	T1049M	probably benign	Het
Wdr78	T	C	4: 103,066,399	E411G	probably benign	Het
Zfp37	T	C	4: 62,192,128	Q274R	probably benign	Het
Zfp648	T	G	1: 154,205,127	L344R	probably damaging	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
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
R5838:Epha1	UTSW	6	42361646	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- GTCTCATGCTGGATTCGGTC -3'
(R):5'- GCTGCTTACAGGTGACATCTC -3'

Sequencing Primer
(F):5'- TCACTCAGTGGATAGGATGGAATGTC -3'
(R):5'- ACAGGTGACATCTCAATCATCCTGTG -3'

Posted On

2015-07-21