Mutagenetix > Incidental Mutation

Incidental Mutation 'R9742:Epha6'

731894

Institutional Source

Beutler Lab

Gene Symbol

Epha6

Ensembl Gene

ENSMUSG00000055540

Gene Name

Eph receptor A6

Synonyms

Ehk2, m-ehk2, Hek12

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9742 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59473846-60425894 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60026065 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 459 (Y459C)

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: Y459C

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

SMART Domains

Protein: ENSMUSP00000066734
Gene: ENSMUSG00000055540
AA Change: Y459C

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: 99.9%
3x: 99.7%
10x: 99.3%
20x: 98.1%

Validation Efficiency

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	T	G	7: 78,749,115 (GRCm39)	S1295R	probably benign	Het
Acsf2	C	A	11: 94,463,963 (GRCm39)	V74L	probably benign	Het
Actrt3	T	C	3: 30,652,434 (GRCm39)	Y220C	probably damaging	Het
Adgrl2	A	G	3: 148,541,986 (GRCm39)		probably null	Het
Ak2	T	A	4: 128,901,961 (GRCm39)	D211E	possibly damaging	Het
Atp4b	G	A	8: 13,440,097 (GRCm39)	T83I	probably damaging	Het
Brat1	A	G	5: 140,703,912 (GRCm39)	T722A	probably benign	Het
Cfap65	T	C	1: 74,943,840 (GRCm39)	Y1557C	probably benign	Het
Cmya5	T	C	13: 93,231,935 (GRCm39)	D1051G	possibly damaging	Het
Cuedc2	A	G	19: 46,319,727 (GRCm39)		probably null	Het
Dtnb	A	T	12: 3,736,740 (GRCm39)	K293N	possibly damaging	Het
Dusp26	A	T	8: 31,584,198 (GRCm39)	T102S	probably benign	Het
Epg5	T	A	18: 78,024,170 (GRCm39)	L1079H	probably damaging	Het
Fam89b	A	T	19: 5,779,330 (GRCm39)	S76T	probably benign	Het
Fbxo33	A	G	12: 59,251,682 (GRCm39)	S278P	probably damaging	Het
Fndc3a	C	A	14: 72,777,693 (GRCm39)	E1171*	probably null	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Il17ra	T	A	6: 120,458,466 (GRCm39)	I539N	probably damaging	Het
Khdc1c	T	G	1: 21,439,945 (GRCm39)	H165Q	probably benign	Het
Ldb1	A	G	19: 46,023,858 (GRCm39)		probably null	Het
Lrrc27	C	T	7: 138,806,229 (GRCm39)	A298V	probably benign	Het
Lsr	CTCTTCTTCTTCTTCTTC	CTCTTCTTCTTCTTC	7: 30,657,492 (GRCm39)		probably benign	Het
Mpi	A	G	9: 57,452,606 (GRCm39)	C309R	probably damaging	Het
Mrtfa	G	A	15: 80,901,180 (GRCm39)	A472V	possibly damaging	Het
Mtcl3	C	A	10: 29,024,394 (GRCm39)	Q437K	probably benign	Het
Muc17	A	G	5: 137,167,127 (GRCm39)	Y276H		Het
Myh6	T	A	14: 55,194,056 (GRCm39)	M778L	probably benign	Het
Nmnat1	T	A	4: 149,553,338 (GRCm39)	E258V	probably damaging	Het
Or10ag53	T	C	2: 87,082,376 (GRCm39)	F32L	probably benign	Het
Or5b108	T	C	19: 13,168,769 (GRCm39)	V246A	probably damaging	Het
Pik3c2b	A	G	1: 133,022,487 (GRCm39)	E1143G	probably damaging	Het
Plch2	C	T	4: 155,082,912 (GRCm39)	D579N	probably damaging	Het
Slc22a19	T	C	19: 7,688,281 (GRCm39)	Q93R	probably benign	Het
Slc9c1	T	A	16: 45,400,616 (GRCm39)	I742N	probably damaging	Het
Smarcc2	A	G	10: 128,297,222 (GRCm39)	Y38C	probably damaging	Het
Strbp	T	C	2: 37,515,268 (GRCm39)	T253A	probably damaging	Het
Trim40	A	G	17: 37,199,902 (GRCm39)	S59P	possibly damaging	Het
Trpm6	G	T	19: 18,800,766 (GRCm39)	V827L	probably benign	Het
Unc5d	A	G	8: 29,156,792 (GRCm39)		probably null	Het
Vmn2r118	T	C	17: 55,918,009 (GRCm39)	T168A	probably damaging	Het
Wdfy4	G	A	14: 32,809,987 (GRCm39)	H1745Y		Het
Xrra1	A	G	7: 99,563,660 (GRCm39)	D549G	probably benign	Het
Zhx2	A	G	15: 57,686,806 (GRCm39)	E725G	probably benign	Het
Zzef1	G	A	11: 72,749,179 (GRCm39)	R889H	probably benign	Het

Other mutations in Epha6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00475:Epha6	APN	16	59,736,325 (GRCm39)	missense	probably damaging	1.00
IGL00849:Epha6	APN	16	60,245,474 (GRCm39)	missense	possibly damaging	0.89
IGL00898:Epha6	APN	16	59,595,904 (GRCm39)	critical splice donor site	probably null
IGL01353:Epha6	APN	16	60,245,258 (GRCm39)	missense	probably damaging	1.00
IGL01409:Epha6	APN	16	59,476,100 (GRCm39)	nonsense	probably null
IGL01577:Epha6	APN	16	59,777,289 (GRCm39)	missense	possibly damaging	0.57
IGL01653:Epha6	APN	16	59,659,666 (GRCm39)	missense	probably benign	0.05
IGL01654:Epha6	APN	16	59,659,666 (GRCm39)	missense	probably benign	0.05
IGL01655:Epha6	APN	16	59,659,666 (GRCm39)	missense	probably benign	0.05
IGL01657:Epha6	APN	16	59,659,666 (GRCm39)	missense	probably benign	0.05
IGL01663:Epha6	APN	16	59,596,007 (GRCm39)	missense	probably damaging	1.00
IGL01899:Epha6	APN	16	59,659,666 (GRCm39)	missense	probably benign	0.05
IGL02272:Epha6	APN	16	59,639,300 (GRCm39)	missense	probably damaging	1.00
IGL03265:Epha6	APN	16	59,880,594 (GRCm39)	splice site	probably benign
IGL03333:Epha6	APN	16	59,503,051 (GRCm39)	missense	probably damaging	1.00
rauwulfia	UTSW	16	59,502,979 (GRCm39)	missense	probably damaging	1.00
PIT4377001:Epha6	UTSW	16	60,025,915 (GRCm39)	missense	probably damaging	0.98
R0505:Epha6	UTSW	16	60,026,095 (GRCm39)	missense	possibly damaging	0.89
R1593:Epha6	UTSW	16	60,245,267 (GRCm39)	missense	probably damaging	1.00
R1764:Epha6	UTSW	16	59,596,091 (GRCm39)	missense	probably null	1.00
R1836:Epha6	UTSW	16	60,026,108 (GRCm39)	missense	probably damaging	1.00
R2061:Epha6	UTSW	16	59,476,160 (GRCm39)	missense	probably damaging	1.00
R2125:Epha6	UTSW	16	59,503,051 (GRCm39)	missense	probably damaging	1.00
R2867:Epha6	UTSW	16	59,780,659 (GRCm39)	splice site	probably null
R2867:Epha6	UTSW	16	59,780,659 (GRCm39)	splice site	probably null
R3760:Epha6	UTSW	16	60,041,347 (GRCm39)	missense	possibly damaging	0.70
R4305:Epha6	UTSW	16	60,346,883 (GRCm39)	splice site	probably null
R4613:Epha6	UTSW	16	59,486,960 (GRCm39)	missense	possibly damaging	0.80
R4818:Epha6	UTSW	16	59,474,426 (GRCm39)	missense	probably damaging	0.99
R4832:Epha6	UTSW	16	59,780,776 (GRCm39)	missense	probably damaging	0.98
R4895:Epha6	UTSW	16	59,486,918 (GRCm39)	missense	probably benign	0.08
R5014:Epha6	UTSW	16	59,486,942 (GRCm39)	missense	probably benign	0.00
R5316:Epha6	UTSW	16	59,775,083 (GRCm39)	missense	probably damaging	0.99
R5403:Epha6	UTSW	16	59,595,933 (GRCm39)	missense	probably damaging	1.00
R5417:Epha6	UTSW	16	60,245,198 (GRCm39)	missense	possibly damaging	0.89
R5418:Epha6	UTSW	16	60,245,198 (GRCm39)	missense	possibly damaging	0.89
R5678:Epha6	UTSW	16	59,639,342 (GRCm39)	missense	probably damaging	1.00
R5775:Epha6	UTSW	16	59,639,357 (GRCm39)	missense	possibly damaging	0.92
R5808:Epha6	UTSW	16	59,503,105 (GRCm39)	missense	probably damaging	1.00
R6076:Epha6	UTSW	16	60,026,073 (GRCm39)	missense	probably damaging	1.00
R6146:Epha6	UTSW	16	60,245,198 (GRCm39)	missense	possibly damaging	0.89
R6212:Epha6	UTSW	16	60,245,719 (GRCm39)	missense	possibly damaging	0.77
R6242:Epha6	UTSW	16	59,503,025 (GRCm39)	missense	probably damaging	1.00
R6503:Epha6	UTSW	16	60,025,984 (GRCm39)	missense	possibly damaging	0.61
R6580:Epha6	UTSW	16	59,502,979 (GRCm39)	missense	probably damaging	1.00
R6726:Epha6	UTSW	16	60,245,198 (GRCm39)	missense	possibly damaging	0.89
R6728:Epha6	UTSW	16	60,245,198 (GRCm39)	missense	possibly damaging	0.89
R6798:Epha6	UTSW	16	60,425,428 (GRCm39)	missense	possibly damaging	0.53
R6798:Epha6	UTSW	16	60,425,427 (GRCm39)	missense	possibly damaging	0.53
R6903:Epha6	UTSW	16	60,346,825 (GRCm39)	missense	probably benign	0.00
R6999:Epha6	UTSW	16	60,245,533 (GRCm39)	missense	possibly damaging	0.94
R7058:Epha6	UTSW	16	59,503,013 (GRCm39)	missense	probably damaging	1.00
R7109:Epha6	UTSW	16	59,503,031 (GRCm39)	missense	probably damaging	1.00
R7263:Epha6	UTSW	16	59,596,028 (GRCm39)	missense	probably damaging	1.00
R7296:Epha6	UTSW	16	59,736,201 (GRCm39)	missense	probably benign	0.00
R7343:Epha6	UTSW	16	59,780,793 (GRCm39)	missense	probably damaging	0.98
R7443:Epha6	UTSW	16	59,595,988 (GRCm39)	missense	possibly damaging	0.93
R7533:Epha6	UTSW	16	60,025,925 (GRCm39)	missense	probably damaging	1.00
R7602:Epha6	UTSW	16	59,595,931 (GRCm39)	missense	probably damaging	1.00
R7604:Epha6	UTSW	16	60,026,135 (GRCm39)	missense	possibly damaging	0.89
R8321:Epha6	UTSW	16	59,736,317 (GRCm39)	missense	probably damaging	1.00
R8414:Epha6	UTSW	16	59,826,030 (GRCm39)	missense	probably damaging	1.00
R8794:Epha6	UTSW	16	60,026,035 (GRCm39)	missense	probably benign	0.00
R8926:Epha6	UTSW	16	59,659,662 (GRCm39)	missense	probably benign	0.11
R9166:Epha6	UTSW	16	60,425,238 (GRCm39)	missense	probably benign	0.00
R9265:Epha6	UTSW	16	59,476,117 (GRCm39)	missense	probably damaging	1.00
R9322:Epha6	UTSW	16	60,245,118 (GRCm39)	missense	probably damaging	1.00
R9442:Epha6	UTSW	16	60,025,850 (GRCm39)	missense	probably benign	0.26
Z1188:Epha6	UTSW	16	59,474,453 (GRCm39)	missense	probably damaging	1.00
Z1189:Epha6	UTSW	16	59,474,453 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGGAGAGATGCTCAACTCAG -3'
(R):5'- CACCATTAAAGTTTCCTCCTTAAGC -3'

Sequencing Primer
(F):5'- GGAGAGATGCTCAACTCAGAAACTC -3'
(R):5'- GAAAATTTCTTTGTTGCACCACC -3'

Posted On

2022-11-14