Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00898:Epha6'

29128

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 #

IGL00898

Quality Score

Status

Chromosome

Chromosomal Location

59473846-60425894 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 59595904 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000066734 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
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

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	G	A	5: 8,783,690 (GRCm39)	G956S	probably damaging	Het
Alpk2	G	T	18: 65,483,644 (GRCm39)	D121E	probably benign	Het
Apc	A	G	18: 34,450,147 (GRCm39)	T2314A	probably damaging	Het
Arhgef11	T	C	3: 87,636,810 (GRCm39)	L990P	probably damaging	Het
Ccar1	T	A	10: 62,589,013 (GRCm39)	K823N	unknown	Het
Celsr2	C	T	3: 108,321,195 (GRCm39)	R539H	possibly damaging	Het
Clca3b	A	G	3: 144,550,389 (GRCm39)		probably benign	Het
Cpxcr1	T	C	X: 115,387,407 (GRCm39)	L106S	possibly damaging	Het
Edc4	T	A	8: 106,607,755 (GRCm39)	L16Q	probably damaging	Het
Emc1	A	G	4: 139,098,941 (GRCm39)	E808G	probably damaging	Het
Epha7	G	A	4: 28,938,693 (GRCm39)	R516Q	probably damaging	Het
Fancm	T	C	12: 65,152,774 (GRCm39)	S1077P	probably benign	Het
Gm4952	C	T	19: 12,595,772 (GRCm39)	T54I	probably damaging	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Il1b	T	C	2: 129,209,253 (GRCm39)	R126G	possibly damaging	Het
Kin	G	A	2: 10,085,515 (GRCm39)	R25H	probably damaging	Het
Kin	T	C	2: 10,085,517 (GRCm39)	W26R	probably damaging	Het
Lamb3	A	T	1: 193,021,191 (GRCm39)	T923S	possibly damaging	Het
Lrp6	C	T	6: 134,456,702 (GRCm39)	S854N	probably damaging	Het
Ltv1	A	G	10: 13,058,031 (GRCm39)	F258L	probably damaging	Het
Mcm3ap	T	C	10: 76,306,159 (GRCm39)	S91P	probably benign	Het
Msra	A	G	14: 64,360,774 (GRCm39)	I125T	probably damaging	Het
Nr0b1	A	T	X: 85,236,077 (GRCm39)	Q224L	probably benign	Het
Nr2e1	T	A	10: 42,444,449 (GRCm39)	D220V	probably damaging	Het
Nup160	C	A	2: 90,523,450 (GRCm39)	H351Q	probably damaging	Het
Or5b96	T	A	19: 12,867,282 (GRCm39)	M220L	probably benign	Het
Pcdh12	C	A	18: 38,414,510 (GRCm39)	V872L	probably benign	Het
Pcnx2	T	A	8: 126,614,324 (GRCm39)	S376C	probably damaging	Het
Pkd2	A	G	5: 104,631,001 (GRCm39)	E475G	probably damaging	Het
Psg22	A	G	7: 18,458,392 (GRCm39)	Y322C	probably damaging	Het
Rgl2	T	C	17: 34,152,392 (GRCm39)	I363T	possibly damaging	Het
Rimklb	G	T	6: 122,433,590 (GRCm39)	Q187K	possibly damaging	Het
Sectm1b	A	T	11: 120,947,075 (GRCm39)	W17R	probably damaging	Het
Snu13	C	A	15: 81,926,516 (GRCm39)	A60S	probably benign	Het
Sox30	T	A	11: 45,882,727 (GRCm39)	F586I	possibly damaging	Het
Tnfsfm13	C	A	11: 69,575,127 (GRCm39)	V220L	probably benign	Het
Ttn	A	T	2: 76,593,117 (GRCm39)	V20711E	probably damaging	Het
Vmn2r116	A	G	17: 23,604,969 (GRCm39)	N94S	possibly damaging	Het
Yipf2	T	C	9: 21,503,820 (GRCm39)		probably null	Het
Zzef1	T	C	11: 72,765,999 (GRCm39)	S1509P	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
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
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

2013-04-17