Mutagenetix > Incidental Mutation

Incidental Mutation 'R8306:Epha1'

641065

Institutional Source

Beutler Lab

Gene Symbol

Epha1

Ensembl Gene

ENSMUSG00000029859

Gene Name

Eph receptor A1

Synonyms

Esk, 5730453L17Rik, Eph

MMRRC Submission

067792-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

R8306 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

42335421-42350202 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 42335722 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 972 (I972V)

Ref Sequence

ENSEMBL: ENSMUSP00000073099 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070635] [ENSMUST00000073387] [ENSMUST00000164375] [ENSMUST00000203401] [ENSMUST00000203652] [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: 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: I972V

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000073099
Gene: ENSMUSG00000029859
AA Change: I972V

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

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

possibly damaging
Transcript: ENSMUST00000204357
AA Change: I940V

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000144763
Gene: ENSMUSG00000029859
AA Change: I940V

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: 99.1%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	C	A	11: 101,302,194 (GRCm39)	V158F	probably damaging	Het
Abtb3	T	A	10: 85,434,409 (GRCm39)	C22*	probably null	Het
Adam1b	T	C	5: 121,641,212 (GRCm39)		probably benign	Het
Ambn	G	A	5: 88,607,281 (GRCm39)	E50K	possibly damaging	Het
Ash1l	A	G	3: 88,873,259 (GRCm39)	D14G	probably benign	Het
Asphd1	C	T	7: 126,547,784 (GRCm39)	R173H	probably damaging	Het
Atr	A	T	9: 95,802,423 (GRCm39)	T1772S		Het
Best3	T	C	10: 116,838,515 (GRCm39)	L191P	probably damaging	Het
Bola1	A	T	3: 96,104,517 (GRCm39)	S26T	probably benign	Het
Borcs6	T	C	11: 68,950,646 (GRCm39)	L8P	probably benign	Het
Brca1	T	G	11: 101,416,463 (GRCm39)	Q557P	probably damaging	Het
Brca2	G	A	5: 150,460,128 (GRCm39)	E468K	possibly damaging	Het
Capza2	T	A	6: 17,637,131 (GRCm39)	L4Q	probably benign	Het
Cc2d2b	T	A	19: 40,804,228 (GRCm39)	Y918*	probably null	Het
Ccdc163	T	C	4: 116,567,472 (GRCm39)	L67P	probably damaging	Het
Ccdc172	C	A	19: 58,525,022 (GRCm39)	Q160K	probably damaging	Het
Ccp110	T	A	7: 118,321,903 (GRCm39)	D519E	probably benign	Het
Cd300ld2	T	C	11: 114,904,648 (GRCm39)	Q73R	probably benign	Het
Cfap46	T	A	7: 139,236,496 (GRCm39)	D608V		Het
Cfap69	T	G	5: 5,654,287 (GRCm39)	Y549S	probably benign	Het
Cilp	G	A	9: 65,186,286 (GRCm39)	G794S	probably damaging	Het
Clu	A	C	14: 66,217,211 (GRCm39)	Q348P	probably damaging	Het
Cnot1	A	T	8: 96,473,649 (GRCm39)	N1153K	probably benign	Het
Col2a1	T	C	15: 97,888,849 (GRCm39)		probably null	Het
Col6a6	A	T	9: 105,661,272 (GRCm39)	I279N	probably damaging	Het
Dop1a	A	G	9: 86,402,259 (GRCm39)	D1153G	possibly damaging	Het
Dpyd	A	G	3: 119,205,822 (GRCm39)	K888E	probably benign	Het
Eif2ak4	T	C	2: 118,287,656 (GRCm39)	I1208T	possibly damaging	Het
Fam13c	C	T	10: 70,388,983 (GRCm39)	T503I	probably benign	Het
Fbxo43	T	A	15: 36,162,013 (GRCm39)	Q398L	probably benign	Het
Fbxo44	A	G	4: 148,243,089 (GRCm39)	I57T	probably benign	Het
Flnc	T	C	6: 29,449,369 (GRCm39)	I1422T	probably benign	Het
Flrt2	T	C	12: 95,746,076 (GRCm39)	L138P	probably damaging	Het
Frem3	A	G	8: 81,338,840 (GRCm39)	K378E	possibly damaging	Het
Ganc	T	A	2: 120,252,560 (GRCm39)	D128E	probably benign	Het
Gm19965	T	C	1: 116,749,515 (GRCm39)	S399P		Het
H2-Q1	A	T	17: 35,539,997 (GRCm39)	K89*	probably null	Het
H2-Q2	A	T	17: 35,561,301 (GRCm39)		probably benign	Het
Hmmr	G	A	11: 40,612,499 (GRCm39)	S206F	probably damaging	Het
Homer2	T	A	7: 81,274,014 (GRCm39)	S125C	possibly damaging	Het
Hormad2	T	C	11: 4,358,714 (GRCm39)	K231R	probably benign	Het
Kif17	A	C	4: 138,005,220 (GRCm39)	K262Q	probably damaging	Het
Kif20a	G	A	18: 34,761,444 (GRCm39)	S279N	probably benign	Het
Lrp12	T	C	15: 39,741,450 (GRCm39)	N441D	probably damaging	Het
Lta4h	G	T	10: 93,318,126 (GRCm39)	L515F	possibly damaging	Het
Mavs	T	C	2: 131,088,470 (GRCm39)	S425P	probably benign	Het
Mcat	A	C	15: 83,439,592 (GRCm39)	D99E	probably damaging	Het
Nav2	C	A	7: 49,195,765 (GRCm39)	T1047K	probably benign	Het
Neb	T	A	2: 52,099,657 (GRCm39)	Y4731F	probably damaging	Het
Nectin4	G	C	1: 171,211,325 (GRCm39)	R283P	probably null	Het
Notch3	G	A	17: 32,377,086 (GRCm39)	T273I	probably damaging	Het
Or4c11c	G	A	2: 88,661,633 (GRCm39)	M57I	possibly damaging	Het
Or5i1	A	T	2: 87,613,830 (GRCm39)	*317C	probably null	Het
Or6b2b	T	G	1: 92,419,247 (GRCm39)	I77L	possibly damaging	Het
Or6z7	T	A	7: 6,483,868 (GRCm39)	I96F	possibly damaging	Het
Pcdha12	A	T	18: 37,155,638 (GRCm39)	T786S	probably benign	Het
Pde9a	A	G	17: 31,692,186 (GRCm39)	K520E	probably benign	Het
Piezo2	A	C	18: 63,208,801 (GRCm39)	L1404R	probably damaging	Het
Rrbp1	T	C	2: 143,792,416 (GRCm39)	S1321G	probably benign	Het
Rtkn	T	C	6: 83,128,897 (GRCm39)	V464A	probably damaging	Het
Rtn4rl1	T	C	11: 75,156,147 (GRCm39)	F193S	probably damaging	Het
Samd4	G	A	14: 47,122,374 (GRCm39)	V33I	probably damaging	Het
Scn5a	A	G	9: 119,350,357 (GRCm39)	L839P	probably damaging	Het
Slc6a17	C	A	3: 107,380,985 (GRCm39)	V507L	probably benign	Het
Stradb	C	A	1: 59,030,356 (GRCm39)	N203K	unknown	Het
Tenm2	T	C	11: 35,960,196 (GRCm39)	T1044A	possibly damaging	Het
Tmem245	A	C	4: 56,886,037 (GRCm39)	W860G	probably damaging	Het
Tpst2	G	A	5: 112,455,803 (GRCm39)	R114H	probably damaging	Het
Trappc10	C	T	10: 78,036,460 (GRCm39)	D920N	possibly damaging	Het
Vmn1r59	T	A	7: 5,456,966 (GRCm39)	I265L	probably benign	Het
Zbtb20	A	C	16: 43,439,100 (GRCm39)	D667A	probably damaging	Het
Zbtb4	T	A	11: 69,668,309 (GRCm39)	I344N	probably damaging	Het
Zdbf2	T	A	1: 63,343,234 (GRCm39)	C538S	possibly damaging	Het
Zmym6	A	T	4: 127,016,355 (GRCm39)	H712L	probably 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
R0894:Epha1	UTSW	6	42,340,756 (GRCm39)	missense	probably benign	0.45
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
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'- AGGCTCCTTGGTTCAAAGGC -3'
(R):5'- ATGAAGCGCTACATCCTGCAC -3'

Sequencing Primer
(F):5'- CTCCTTGGTTCAAAGGCAGAGTTC -3'
(R):5'- ACACCATGGAGTGTGTGC -3'

Posted On

2020-07-28