Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01899:Epha6'

279044

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Epha6

Ensembl Gene

ENSMUSG00000055540

Gene Name

Eph receptor A6

Synonyms

Ehk2, m-ehk2, Hek12

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01899

Quality Score

Status

Chromosome

Chromosomal Location

59473846-60425894 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 59659666 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 817 (N817K)

Ref Sequence

ENSEMBL: ENSMUSP00000066734 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068860] [ENSMUST00000161358]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000068860
AA Change: N817K

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000066734
Gene: ENSMUSG00000055540
AA Change: N817K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161358

SMART Domains

Protein: ENSMUSP00000124340
Gene: ENSMUSG00000055540

Domain	Start	End	E-Value	Type
Pfam:EphA2_TM	9	88	1.2e-26	PFAM
Pfam:Pkinase_Tyr	91	183	3e-18	PFAM
Pfam:Pkinase	91	296	1.5e-29	PFAM
Pfam:Pkinase_Tyr	179	295	6e-31	PFAM

Coding Region Coverage

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bicral	G	A	17: 47,135,600 (GRCm39)	P537S	probably benign	Het
Cadm1	A	G	9: 47,721,389 (GRCm39)	T260A	probably damaging	Het
Ddr2	C	A	1: 169,811,991 (GRCm39)	G744C	probably damaging	Het
Far2	A	G	6: 148,047,527 (GRCm39)	K69E	probably benign	Het
Fasn	G	A	11: 120,710,975 (GRCm39)		probably benign	Het
Ficd	A	G	5: 113,875,158 (GRCm39)	T76A	probably benign	Het
Flot1	A	T	17: 36,141,573 (GRCm39)	I327L	probably benign	Het
Fscn3	A	T	6: 28,436,078 (GRCm39)	E458V	probably damaging	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Lepr	A	G	4: 101,637,184 (GRCm39)	E691G	possibly damaging	Het
Ly9	T	A	1: 171,434,815 (GRCm39)	Q26L	probably damaging	Het
Or5p60	T	C	7: 107,724,048 (GRCm39)	T141A	probably benign	Het
Pisd	C	A	5: 32,896,476 (GRCm39)		probably null	Het
Plxna2	C	T	1: 194,433,796 (GRCm39)	S615L	probably damaging	Het
Ppfia2	T	C	10: 106,751,612 (GRCm39)		probably null	Het
Ppox	A	G	1: 171,104,655 (GRCm39)	V470A	probably benign	Het
Rptor	T	A	11: 119,748,279 (GRCm39)	S4T	probably benign	Het
Sf3a1	T	A	11: 4,121,063 (GRCm39)	I218N	probably damaging	Het
Stxbp5l	T	C	16: 37,020,954 (GRCm39)	S647G	probably benign	Het
Sytl1	C	T	4: 132,986,167 (GRCm39)		probably null	Het
Tbx6	C	T	7: 126,383,704 (GRCm39)		probably benign	Het
Thg1l	C	A	11: 45,845,018 (GRCm39)	R78L	probably damaging	Het
Tlr1	T	C	5: 65,084,359 (GRCm39)	K73E	probably damaging	Het
Trpm1	T	A	7: 63,884,742 (GRCm39)	F808I	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	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
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
R9742:Epha6	UTSW	16	60,026,065 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2015-04-16