Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03265:Epha6'

415067

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 #

IGL03265

Quality Score

Status

Chromosome

Chromosomal Location

59473846-60425894 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 59880594 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000066734 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000068860

SMART Domains

Protein: ENSMUSP00000066734
Gene: ENSMUSG00000055540

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

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	C	A	11: 109,943,929 (GRCm39)	M1113I	probably benign	Het
Acvr1b	A	G	15: 101,100,959 (GRCm39)	R374G	probably damaging	Het
Akr1a1	A	G	4: 116,495,014 (GRCm39)	M286T	probably benign	Het
Anapc1	T	C	2: 128,469,117 (GRCm39)	S1575G	probably damaging	Het
Apba2	A	G	7: 64,345,071 (GRCm39)	D87G	probably damaging	Het
Arhgap21	A	G	2: 20,854,439 (GRCm39)	F1641S	probably benign	Het
Atad2b	T	A	12: 5,074,628 (GRCm39)	H1062Q	probably benign	Het
Bivm	A	G	1: 44,181,005 (GRCm39)	R396G	probably damaging	Het
Bltp1	T	A	3: 37,102,140 (GRCm39)	D4777E	probably benign	Het
Bmi1	T	A	2: 18,686,672 (GRCm39)	M17K	possibly damaging	Het
Bptf	T	C	11: 106,945,454 (GRCm39)	N2480S	probably benign	Het
Cacna2d3	T	C	14: 28,674,243 (GRCm39)	E944G	probably damaging	Het
Ces2a	C	T	8: 105,464,075 (GRCm39)	H236Y	possibly damaging	Het
Dnah7a	T	C	1: 53,568,007 (GRCm39)	D1863G	probably benign	Het
Dnajc17	C	A	2: 119,016,199 (GRCm39)	E91D	probably benign	Het
Dus2	C	A	8: 106,760,423 (GRCm39)		probably benign	Het
Erap1	A	T	13: 74,812,246 (GRCm39)	T354S	probably damaging	Het
Fbxo11	T	C	17: 88,300,259 (GRCm39)	H851R	probably damaging	Het
Gm20532	G	A	2: 26,522,696 (GRCm39)	C90Y	unknown	Het
Gpr21	T	C	2: 37,408,086 (GRCm39)	Y211H	probably damaging	Het
Hectd4	A	G	5: 121,398,002 (GRCm39)		probably benign	Het
Hephl1	G	A	9: 14,972,255 (GRCm39)	T895I	probably benign	Het
Hey1	T	C	3: 8,729,974 (GRCm39)	Y161C	probably benign	Het
Kdr	A	G	5: 76,121,433 (GRCm39)	Y526H	probably damaging	Het
Lpp	A	G	16: 24,580,737 (GRCm39)	Y151C	probably damaging	Het
Macc1	A	G	12: 119,410,711 (GRCm39)	N493S	probably benign	Het
Or2t45	T	C	11: 58,669,697 (GRCm39)	V248A	probably damaging	Het
Or52s6	C	A	7: 103,091,655 (GRCm39)	R225L	probably benign	Het
Or5m10b	T	A	2: 85,699,494 (GRCm39)	M186K	possibly damaging	Het
Or5t16	T	A	2: 86,819,424 (GRCm39)	Y32F	probably damaging	Het
Or6c1b	A	T	10: 129,272,794 (GRCm39)	T38S	possibly damaging	Het
Pcdhb21	A	G	18: 37,648,206 (GRCm39)	D445G	probably damaging	Het
Prkra	T	C	2: 76,470,614 (GRCm39)	N123D	probably benign	Het
Slc25a33	A	C	4: 149,846,893 (GRCm39)	L56R	probably damaging	Het
Usp36	A	G	11: 118,155,635 (GRCm39)	V714A	possibly damaging	Het
Vmn1r174	T	A	7: 23,453,898 (GRCm39)	L188*	probably null	Het
Vmn2r12	A	G	5: 109,239,936 (GRCm39)	V209A	probably benign	Het
Zfp809	A	G	9: 22,154,339 (GRCm39)	Y352C	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
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

2016-08-02