Mutagenetix > Incidental Mutation

Incidental Mutation 'R8414:Epha6'

652856

Institutional Source

Beutler Lab

Gene Symbol

Epha6

Ensembl Gene

ENSMUSG00000055540

Gene Name

Eph receptor A6

Synonyms

Ehk2, m-ehk2, Hek12

MMRRC Submission

067768-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8414 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59473846-60425894 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 59826030 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 588 (R588S)

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: R588S

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

SMART Domains

Protein: ENSMUSP00000066734
Gene: ENSMUSG00000055540
AA Change: R588S

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: 100.0%
3x: 99.9%
10x: 99.5%
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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA467197	T	C	2: 122,480,237 (GRCm39)	Y33H	probably damaging	Het
Abcc10	T	C	17: 46,623,273 (GRCm39)	R880G	probably benign	Het
Abcg2	T	A	6: 58,646,221 (GRCm39)	Y246N	probably benign	Het
Abhd18	A	G	3: 40,888,061 (GRCm39)	M302V	probably benign	Het
Ablim2	A	G	5: 36,032,235 (GRCm39)	D568G	possibly damaging	Het
Alpk2	T	C	18: 65,440,542 (GRCm39)	R284G	possibly damaging	Het
AU021092	T	C	16: 5,034,649 (GRCm39)	Y191C	probably damaging	Het
Bdp1	T	A	13: 100,200,985 (GRCm39)	T751S	probably benign	Het
Brme1	A	T	8: 84,893,952 (GRCm39)	E373V	probably damaging	Het
Ccdc136	A	G	6: 29,412,929 (GRCm39)	E438G	probably damaging	Het
Cul2	C	A	18: 3,399,912 (GRCm39)	N15K	probably benign	Het
Eml2	C	A	7: 18,913,220 (GRCm39)	Q73K	probably damaging	Het
Eppk1	C	T	15: 75,994,319 (GRCm39)	R854Q	probably benign	Het
Fbxw28	C	T	9: 109,155,604 (GRCm39)	W389*	probably null	Het
Fcgbpl1	T	A	7: 27,842,158 (GRCm39)	C698S	probably damaging	Het
Gbp4	A	T	5: 105,284,703 (GRCm39)	V62E	probably benign	Het
Gtf2h1	C	A	7: 46,464,768 (GRCm39)	T401K	possibly damaging	Het
Hif1a	G	T	12: 73,984,428 (GRCm39)	M294I	probably benign	Het
Irak2	A	G	6: 113,663,903 (GRCm39)	N484S	probably benign	Het
Kcnj16	A	G	11: 110,916,441 (GRCm39)	T368A	probably benign	Het
Kcnq1	G	A	7: 142,917,403 (GRCm39)	G588D	probably damaging	Het
Kcnq5	G	A	1: 21,549,648 (GRCm39)	R360C	probably damaging	Het
Nckap5	T	G	1: 125,942,357 (GRCm39)	E1582D	probably damaging	Het
Nrip3	A	G	7: 109,362,735 (GRCm39)	I183T	possibly damaging	Het
Or10g9	T	A	9: 39,912,241 (GRCm39)	H94L	probably benign	Het
Or4c117	A	G	2: 88,956,058 (GRCm39)	F6L	probably benign	Het
Pcdha2	C	T	18: 37,074,619 (GRCm39)	S750L	probably damaging	Het
Pik3r2	T	C	8: 71,223,079 (GRCm39)	Y447C	probably damaging	Het
Poteg	T	C	8: 27,938,068 (GRCm39)	Y75H	probably benign	Het
Proser1	G	C	3: 53,385,977 (GRCm39)	G620R	probably damaging	Het
Prpsap1	A	T	11: 116,369,439 (GRCm39)	L164H	probably damaging	Het
Rfc3	A	T	5: 151,568,381 (GRCm39)	V195E	possibly damaging	Het
Sarm1	A	T	11: 78,378,794 (GRCm39)	V417D	probably damaging	Het
She	A	G	3: 89,739,174 (GRCm39)	T122A	probably benign	Het
Spata31e1	A	G	13: 49,941,273 (GRCm39)	S56P	probably damaging	Het
Srpra	A	G	9: 35,126,133 (GRCm39)	E442G	probably benign	Het
Sult2a6	T	A	7: 13,984,357 (GRCm39)	R124S	probably damaging	Het
Synm	T	C	7: 67,383,511 (GRCm39)	T1384A	probably benign	Het
Tenm3	A	G	8: 48,746,544 (GRCm39)	V1087A	probably damaging	Het
Ticam1	T	A	17: 56,578,340 (GRCm39)	I252L	probably benign	Het
Trbv31	C	A	6: 41,534,697 (GRCm39)	D89Y	possibly damaging	Het
Trpc7	G	A	13: 56,970,282 (GRCm39)	T434I	probably benign	Het
Tubgcp4	T	A	2: 121,024,634 (GRCm39)	I603N	probably benign	Het
Ugt3a1	A	G	15: 9,310,669 (GRCm39)	N317S	possibly damaging	Het
Vdac1	C	T	11: 52,267,330 (GRCm39)	T77I	possibly damaging	Het
Vmn2r113	A	T	17: 23,177,753 (GRCm39)	R846*	probably null	Het
Zc3h12d	GCCC	GCC	10: 7,715,735 (GRCm39)		probably null	Het
Zranb2	G	T	3: 157,252,312 (GRCm39)	R310S	unknown	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
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

Predicted Primers

PCR Primer
(F):5'- TGAGCATTTCACTTGAGCAGC -3'
(R):5'- CACCAGTGACCATGTATAGTTAAAG -3'

Sequencing Primer
(F):5'- TTGAGCAGCACATCCTTGAG -3'
(R):5'- TCATCCCATTGATAATTTCCCAAATC -3'

Posted On

2020-10-20