Mutagenetix > Incidental Mutations

Incidental Mutation 'R7569:Epha1'

585632

Institutional Source

Beutler Lab

Gene Symbol

Epha1

Ensembl Gene

ENSMUSG00000029859

Gene Name

Eph receptor A1

Synonyms

Eph, 5730453L17Rik, Esk

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.185) question?

Stock #

R7569 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

42358487-42373268 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 42365422 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 331 (T331S)

Ref Sequence

ENSEMBL: ENSMUSP00000073099 (fasta)

Gene Model

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

PDB Structure

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073387
AA Change: T331S

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000073099
Gene: ENSMUSG00000029859
AA Change: T331S

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 damaging
Transcript: ENSMUST00000204357
AA Change: T331S

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

SMART Domains

Protein: ENSMUSP00000144763
Gene: ENSMUSG00000029859
AA Change: T331S

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (58/59)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700007K13Rik	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,466,110		probably benign	Het
9330182O14Rik	A	T	15: 40,144,948	T73S	unknown	Het
Acvrl1	A	G	15: 101,135,755	Q106R	probably benign	Het
Adgb	A	T	10: 10,431,252	D329E	probably benign	Het
Ankrd12	A	T	17: 65,982,905	D1844E	probably damaging	Het
Ankub1	G	A	3: 57,665,618	R228*	probably null	Het
Apol6	A	C	15: 77,050,698		probably benign	Het
Ascc2	G	A	11: 4,679,506	V618M	probably damaging	Het
Asic3	A	G	5: 24,414,048	T113A	probably benign	Het
BC034090	T	A	1: 155,217,405	H769L	probably benign	Het
Bcl11a	G	T	11: 24,085,458	E65*	probably null	Het
Birc6	G	T	17: 74,598,082	R1290L	possibly damaging	Het
C6	A	G	15: 4,789,581	E465G	probably benign	Het
Cav2	T	A	6: 17,282,079	I112N	probably damaging	Het
Cep131	G	A	11: 120,066,713	A848V	probably damaging	Het
Col8a1	T	A	16: 57,627,192	I652F	unknown	Het
Cul4a	A	G	8: 13,123,493	N180S	probably benign	Het
Dhx38	A	G	8: 109,560,695	S214P	probably damaging	Het
Dmxl2	A	G	9: 54,415,987	V1197A	possibly damaging	Het
Dusp27	T	C	1: 166,108,035	D198G	probably damaging	Het
Dynlt1f	A	G	17: 6,655,782	S7P	not run	Het
Gm10436	A	T	12: 88,176,315	Y373N	probably benign	Het
Gm49333	T	A	16: 20,642,487	Y641*	probably null	Het
Hus1b	A	G	13: 30,946,864	Y271H	probably damaging	Het
Kmt2b	A	G	7: 30,569,553	V2610A	possibly damaging	Het
Lama2	A	G	10: 27,265,050	L651P	probably damaging	Het
Lgr5	T	C	10: 115,462,756	Y361C	probably damaging	Het
Map1s	T	C	8: 70,913,498	V349A	probably benign	Het
Map3k6	A	G	4: 133,250,077	R912G	probably benign	Het
Marc2	A	T	1: 184,841,425	F92Y	possibly damaging	Het
Nampt	T	A	12: 32,850,434	H459Q	probably benign	Het
Nlrp1a	T	C	11: 71,109,043	M817V	probably benign	Het
Npsr1	A	G	9: 24,313,730	R345G	probably benign	Het
Nuak2	G	A	1: 132,316,281	A18T	possibly damaging	Het
Olfr1428	T	C	19: 12,109,021	D175G	possibly damaging	Het
Olfr993	A	G	2: 85,414,135	V248A	probably damaging	Het
Ppp4r3b	T	C	11: 29,188,540	F296S	possibly damaging	Het
Pycr2	T	C	1: 180,904,518	F19L	probably benign	Het
Robo2	T	A	16: 74,035,115	T226S	possibly damaging	Het
Rock1	A	T	18: 10,140,194	N132K	probably damaging	Het
Rp1	A	T	1: 4,284,840	L379Q	unknown	Het
Sema6d	A	G	2: 124,657,972	I323V	possibly damaging	Het
Slc12a4	A	G	8: 105,945,847	I814T	probably damaging	Het
Slc18a2	G	A	19: 59,284,152	G352R	probably damaging	Het
Slc39a14	T	C	14: 70,309,827	T357A	possibly damaging	Het
Smarcad1	T	A	6: 65,052,711	D94E	probably benign	Het
Sorcs2	A	G	5: 36,025,876	Y1018H	probably benign	Het
Srebf1	G	T	11: 60,200,121	T1069K	possibly damaging	Het
St3gal3	A	G	4: 117,964,356	V123A	probably benign	Het
Stradb	A	G	1: 58,991,151	Y188C	unknown	Het
Sult2a2	T	C	7: 13,779,505	F186L	probably benign	Het
Syne2	A	G	12: 75,927,390	T1120A	probably benign	Het
Taok1	A	T	11: 77,555,614	S430T	probably benign	Het
Tmem62	A	T	2: 121,006,930	I573L	probably benign	Het
Trav9-1	T	C	14: 53,488,124	S7P	probably benign	Het
U2af1l4	A	T	7: 30,563,557	I24F	probably damaging	Het
Usp33	T	A	3: 152,391,665	I840N	probably damaging	Het
Vmn2r74	A	C	7: 85,952,336	I698S	probably damaging	Het
Zfp352	C	T	4: 90,223,659	P12L	possibly damaging	Het
Zfp507	T	A	7: 35,794,544	E358V	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
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
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
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'- TATGTCTCCCAAAGCCCTCATG -3'
(R):5'- AAACATGGGCTGCCTTCTCTC -3'

Sequencing Primer
(F):5'- AGCCCTCATGAGAGATTAAACTTC -3'
(R):5'- GGGCTGCCTTCTCTCTCCAG -3'

Posted On

2019-10-17