Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01353:Epha6'

75427

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 #

IGL01353

Quality Score

Status

Chromosome

Chromosomal Location

59473846-60425894 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60245258 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 314 (T314A)

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: T314A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000066734
Gene: ENSMUSG00000055540
AA Change: T314A

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: ENSMUST00000159383

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	T	11: 94,242,934 (GRCm39)	V1304E	possibly damaging	Het
Acr	T	C	15: 89,453,695 (GRCm39)	L78P	probably damaging	Het
Adamts12	T	C	15: 11,292,091 (GRCm39)		probably benign	Het
Adgrb2	T	C	4: 129,906,093 (GRCm39)	S872P	probably damaging	Het
Adhfe1	T	A	1: 9,637,088 (GRCm39)	N413K	probably benign	Het
Apoh	T	A	11: 108,288,211 (GRCm39)	C110S	probably damaging	Het
Arhgap11a	A	G	2: 113,663,869 (GRCm39)	F805L	probably damaging	Het
Bin3	C	T	14: 70,372,275 (GRCm39)	L191F	possibly damaging	Het
Col3a1	A	G	1: 45,372,798 (GRCm39)		probably benign	Het
Dapp1	T	C	3: 137,667,241 (GRCm39)	K107R	probably benign	Het
Dnah5	T	C	15: 28,233,418 (GRCm39)	V259A	probably benign	Het
Dnah6	T	C	6: 73,150,439 (GRCm39)	M775V	probably benign	Het
Dnah9	A	G	11: 65,971,397 (GRCm39)	L1597P	probably damaging	Het
Elfn2	G	A	15: 78,556,618 (GRCm39)	A643V	possibly damaging	Het
Fn1	C	A	1: 71,626,098 (GRCm39)	W2237L	probably damaging	Het
Foxp4	T	A	17: 48,199,078 (GRCm39)	D97V	probably damaging	Het
Kcnb2	C	A	1: 15,781,048 (GRCm39)	T640K	probably benign	Het
Lypd10	G	T	7: 24,413,662 (GRCm39)	S226I	probably damaging	Het
Miga2	G	A	2: 30,261,245 (GRCm39)		probably null	Het
Nacad	T	A	11: 6,550,530 (GRCm39)	Q887L	possibly damaging	Het
Or2m13	C	T	16: 19,226,333 (GRCm39)	M145I	probably benign	Het
Or4d1	T	C	11: 87,804,998 (GRCm39)	I245V	probably benign	Het
Or7e173	T	C	9: 19,938,343 (GRCm39)	N297S	probably damaging	Het
Or8k24	A	T	2: 86,216,365 (GRCm39)	Y132*	probably null	Het
Otub2	A	T	12: 103,370,581 (GRCm39)	M288L	probably benign	Het
Otud4	A	G	8: 80,391,650 (GRCm39)	S432G	probably benign	Het
Pcca	G	A	14: 122,820,029 (GRCm39)	V58I	probably damaging	Het
Pdpr	T	A	8: 111,847,910 (GRCm39)		probably null	Het
Pinx1	C	A	14: 64,103,564 (GRCm39)	Q48K	probably benign	Het
Pkd1l2	G	T	8: 117,784,182 (GRCm39)	S698R	probably benign	Het
Psg29	A	G	7: 16,938,938 (GRCm39)	R71G	possibly damaging	Het
Psmd3	T	A	11: 98,581,426 (GRCm39)	V271E	probably benign	Het
Smarcc1	A	G	9: 109,964,734 (GRCm39)	N97S	probably benign	Het
Sulf2	C	T	2: 165,929,015 (GRCm39)	G319S	probably damaging	Het
Tmem67	C	A	4: 12,079,895 (GRCm39)	C132F	probably damaging	Het
Ttll7	T	C	3: 146,667,474 (GRCm39)	L780P	probably damaging	Het
Vmn1r223	A	G	13: 23,433,426 (GRCm39)	T7A	unknown	Het
Vmn1r76	T	G	7: 11,664,737 (GRCm39)	H159P	probably damaging	Het
Vnn1	G	A	10: 23,776,738 (GRCm39)	C363Y	probably damaging	Het
Wdr64	T	G	1: 175,559,151 (GRCm39)	L305V	probably damaging	Het
Zkscan4	T	C	13: 21,668,518 (GRCm39)	L323P	probably damaging	Het
Zscan10	A	T	17: 23,828,574 (GRCm39)	H295L	probably damaging	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
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
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

2013-10-07