Mutagenetix > Incidental Mutations

Incidental Mutation 'R7263:Epha6'

564777

Institutional Source

Beutler Lab

Gene Symbol

Epha6

Ensembl Gene

ENSMUSG00000055540

Gene Name

Eph receptor A6

Synonyms

m-ehk2, Hek12, Ehk2

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7263 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59653483-60605531 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59775665 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 888 (Y888H)

Ref Sequence

ENSEMBL: ENSMUSP00000066734 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068860]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000068860
AA Change: Y888H

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

SMART Domains

Protein: ENSMUSP00000066734
Gene: ENSMUSG00000055540
AA Change: Y888H

Domain	Start	End	E-Value	Type
low complexity region	4	37	N/A	INTRINSIC
low complexity region	79	90	N/A	INTRINSIC
low complexity region	104	115	N/A	INTRINSIC
EPH_lbd	128	301	5.95e-125	SMART
Pfam:GCC2_GCC3	361	406	1.6e-8	PFAM
FN3	426	518	5.83e-3	SMART
FN3	537	618	2.19e-7	SMART
Pfam:EphA2_TM	644	722	1.8e-22	PFAM
TyrKc	725	1024	3.66e-122	SMART
SAM	1052	1119	1.24e-22	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

96% (67/70)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele display discrete learning and memory deficits. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	C	A	3: 122,054,194	H55N	probably damaging	Het
Acan	G	T	7: 79,092,318	V488L	probably damaging	Het
Adam12	T	C	7: 133,919,511	E638G	possibly damaging	Het
Adamts20	T	A	15: 94,322,891	Q1387L	possibly damaging	Het
Adamts3	G	T	5: 89,677,742	D1079E	probably benign	Het
Barx1	G	T	13: 48,665,079	G93C	probably damaging	Het
Carmil2	C	T	8: 105,693,045	R828C	probably damaging	Het
Catsper4	TTCTC	TTC	4: 134,227,112		probably null	Het
Ccdc159	T	C	9: 21,931,711	M148T	probably benign	Het
Cdk5rap1	T	A	2: 154,360,732	N193Y	probably benign	Het
Csnk1g2	G	A	10: 80,634,498	G15D	probably damaging	Het
Dach1	T	C	14: 98,168,859	S151G	probably benign	Het
Elf5	C	A	2: 103,439,300	N75K	probably benign	Het
Elp3	T	C	14: 65,565,333	D272G	probably damaging	Het
Epb41l1	T	A	2: 156,495,123		probably null	Het
Fibcd1	T	C	2: 31,817,210	Y345C	probably damaging	Het
Gjc1	C	T	11: 102,800,137	E347K	possibly damaging	Het
Gm16486	A	G	8: 70,710,776	N873D	possibly damaging	Het
Gse1	A	G	8: 120,574,171	D892G	unknown	Het
Gtpbp6	A	T	5: 110,104,049	I506N	probably benign	Het
Hivep1	T	A	13: 42,158,192	F1303I	possibly damaging	Het
Il21r	A	G	7: 125,632,905	T502A	probably benign	Het
Ints1	T	C	5: 139,764,079	T997A	possibly damaging	Het
Invs	C	A	4: 48,396,381	N351K	probably damaging	Het
Iqcm	A	G	8: 75,763,073	T390A	probably benign	Het
Kcnh4	C	T	11: 100,741,817	G948D	probably benign	Het
Kcnh7	T	A	2: 62,735,970		probably null	Het
Lrrc72	A	G	12: 36,208,612	V82A	probably damaging	Het
Macf1	A	T	4: 123,378,150	L6535Q	probably damaging	Het
Ncor2	G	C	5: 125,032,132	L585V		Het
Nipal2	G	C	15: 34,578,758	Y298*	probably null	Het
Nipsnap1	C	T	11: 4,882,960		probably benign	Het
Olfr1112	T	A	2: 87,192,132	C148*	probably null	Het
Olfr1267-ps1	T	C	2: 90,085,988	I158V	not run	Het
Olfr578	A	T	7: 102,984,317	Y282*	probably null	Het
Pcdhga4	C	T	18: 37,686,820	T474I	probably benign	Het
Pdp1	G	T	4: 11,960,821	Q516K	possibly damaging	Het
Pik3c2b	C	T	1: 133,090,202	P934L	probably damaging	Het
Pp2d1	A	G	17: 53,515,330	I236T	probably benign	Het
Pygm	G	A	19: 6,388,327	R278H	probably damaging	Het
Rb1	A	T	14: 73,282,923	C215*	probably null	Het
Rgs22	A	G	15: 36,015,643	S1156P	possibly damaging	Het
Rgs9bp	T	C	7: 35,584,701	T174A	probably damaging	Het
Rnf133	A	T	6: 23,649,668	Y130*	probably null	Het
Sctr	G	A	1: 120,022,225	R48Q	probably benign	Het
Serpinb6e	A	T	13: 33,838,940	F153L	probably benign	Het
Slc22a1	A	T	17: 12,666,700	Y200N	probably damaging	Het
Slc22a22	C	A	15: 57,249,711	M377I	probably benign	Het
Slc36a4	A	G	9: 15,722,156		probably null	Het
Slc39a6	A	G	18: 24,601,203	V143A	probably benign	Het
Slf2	G	A	19: 44,938,424		probably null	Het
Sowaha	T	C	11: 53,479,658	K84E	probably benign	Het
Spef2	T	G	15: 9,653,012		probably null	Het
Sphkap	A	T	1: 83,276,678	F1117I	probably damaging	Het
Tas2r113	T	C	6: 132,893,576	I189T	possibly damaging	Het
Tescl	T	C	7: 24,333,822	E26G	possibly damaging	Het
Trpm6	A	T	19: 18,876,786	I1847F	probably damaging	Het
Uba1y	T	A	Y: 822,200	C178S	possibly damaging	Het
Ush2a	T	A	1: 188,443,329	V1208D	possibly damaging	Het
Usp13	G	C	3: 32,894,851	A446P	probably damaging	Het
Usp7	A	T	16: 8,696,724	C722S	possibly damaging	Het
Vmn1r52	A	G	6: 90,179,553	S280G	probably benign	Het
Vmn2r84	T	C	10: 130,389,208	K478E	probably damaging	Het
Zfp112	C	A	7: 24,125,527	L311I	probably benign	Het
Zfp180	G	T	7: 24,105,700	E515*	probably null	Het
Zfp518b	A	G	5: 38,672,328	I778T	probably damaging	Het
Zfp800	A	T	6: 28,243,663	H434Q	probably benign	Het

Other mutations in Epha6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00475:Epha6	APN	16	59915962	missense	probably damaging	1.00
IGL00849:Epha6	APN	16	60425111	missense	possibly damaging	0.89
IGL00898:Epha6	APN	16	59775541	critical splice donor site	probably null
IGL01353:Epha6	APN	16	60424895	missense	probably damaging	1.00
IGL01409:Epha6	APN	16	59655737	nonsense	probably null
IGL01577:Epha6	APN	16	59956926	missense	possibly damaging	0.57
IGL01653:Epha6	APN	16	59839303	missense	probably benign	0.05
IGL01654:Epha6	APN	16	59839303	missense	probably benign	0.05
IGL01655:Epha6	APN	16	59839303	missense	probably benign	0.05
IGL01657:Epha6	APN	16	59839303	missense	probably benign	0.05
IGL01663:Epha6	APN	16	59775644	missense	probably damaging	1.00
IGL01899:Epha6	APN	16	59839303	missense	probably benign	0.05
IGL02272:Epha6	APN	16	59818937	missense	probably damaging	1.00
IGL03265:Epha6	APN	16	60060231	splice site	probably benign
IGL03333:Epha6	APN	16	59682688	missense	probably damaging	1.00
rauwulfia	UTSW	16	59682616	missense	probably damaging	1.00
PIT4377001:Epha6	UTSW	16	60205552	missense	probably damaging	0.98
R0505:Epha6	UTSW	16	60205732	missense	possibly damaging	0.89
R1593:Epha6	UTSW	16	60424904	missense	probably damaging	1.00
R1764:Epha6	UTSW	16	59775728	missense	probably null	1.00
R1836:Epha6	UTSW	16	60205745	missense	probably damaging	1.00
R2061:Epha6	UTSW	16	59655797	missense	probably damaging	1.00
R2125:Epha6	UTSW	16	59682688	missense	probably damaging	1.00
R2867:Epha6	UTSW	16	59960296	splice site	probably null
R2867:Epha6	UTSW	16	59960296	splice site	probably null
R3760:Epha6	UTSW	16	60220984	missense	possibly damaging	0.70
R4305:Epha6	UTSW	16	60526520	splice site	probably null
R4613:Epha6	UTSW	16	59666597	missense	possibly damaging	0.80
R4818:Epha6	UTSW	16	59654063	missense	probably damaging	0.99
R4832:Epha6	UTSW	16	59960413	missense	probably damaging	0.98
R4895:Epha6	UTSW	16	59666555	missense	probably benign	0.08
R5014:Epha6	UTSW	16	59666579	missense	probably benign	0.00
R5316:Epha6	UTSW	16	59954720	missense	probably damaging	0.99
R5403:Epha6	UTSW	16	59775570	missense	probably damaging	1.00
R5417:Epha6	UTSW	16	60424835	missense	possibly damaging	0.89
R5418:Epha6	UTSW	16	60424835	missense	possibly damaging	0.89
R5678:Epha6	UTSW	16	59818979	missense	probably damaging	1.00
R5775:Epha6	UTSW	16	59818994	missense	possibly damaging	0.92
R5808:Epha6	UTSW	16	59682742	missense	probably damaging	1.00
R6076:Epha6	UTSW	16	60205710	missense	probably damaging	1.00
R6146:Epha6	UTSW	16	60424835	missense	possibly damaging	0.89
R6212:Epha6	UTSW	16	60425356	missense	possibly damaging	0.77
R6242:Epha6	UTSW	16	59682662	missense	probably damaging	1.00
R6503:Epha6	UTSW	16	60205621	missense	possibly damaging	0.61
R6580:Epha6	UTSW	16	59682616	missense	probably damaging	1.00
R6726:Epha6	UTSW	16	60424835	missense	possibly damaging	0.89
R6728:Epha6	UTSW	16	60424835	missense	possibly damaging	0.89
R6798:Epha6	UTSW	16	60605064	missense	possibly damaging	0.53
R6798:Epha6	UTSW	16	60605065	missense	possibly damaging	0.53
R6903:Epha6	UTSW	16	60526462	missense	probably benign	0.00
R6999:Epha6	UTSW	16	60425170	missense	possibly damaging	0.94
R7058:Epha6	UTSW	16	59682650	missense	probably damaging	1.00
R7109:Epha6	UTSW	16	59682668	missense	probably damaging	1.00
R7296:Epha6	UTSW	16	59915838	missense	probably benign	0.00
R7343:Epha6	UTSW	16	59960430	missense	probably damaging	0.98
R7443:Epha6	UTSW	16	59775625	missense	possibly damaging	0.93
R7533:Epha6	UTSW	16	60205562	missense	probably damaging	1.00
R7602:Epha6	UTSW	16	59775568	missense	probably damaging	1.00
R7604:Epha6	UTSW	16	60205772	missense	possibly damaging	0.89
R8321:Epha6	UTSW	16	59915954	missense	probably damaging	1.00
R8414:Epha6	UTSW	16	60005667	missense	probably damaging	1.00
R8794:Epha6	UTSW	16	60205672	missense	probably benign	0.00
R8926:Epha6	UTSW	16	59839299	missense	probably benign	0.11
R9166:Epha6	UTSW	16	60604875	missense	probably benign	0.00
R9265:Epha6	UTSW	16	59655754	missense	probably damaging	1.00
R9322:Epha6	UTSW	16	60424755	missense	probably damaging	1.00
Z1188:Epha6	UTSW	16	59654090	missense	probably damaging	1.00
Z1189:Epha6	UTSW	16	59654090	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGAGGAACCAGGAACAATTATTC -3'
(R):5'- AGCAGTGGTCAGCTGAATTG -3'

Sequencing Primer
(F):5'- GGAACCAGGAACAATTATTCTAACAG -3'
(R):5'- GCTGAATTGATGTGTCTCTCCAATAG -3'

Posted On

2019-06-26