Mutagenetix > Incidental Mutation

Incidental Mutation 'R9442:Epha6'

713703

Institutional Source

Beutler Lab

Gene Symbol

Epha6

Ensembl Gene

ENSMUSG00000055540

Gene Name

Eph receptor A6

Synonyms

Ehk2, m-ehk2, Hek12

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9442 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59473846-60425894 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60025850 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 531 (T531A)

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
AA Change: T531A

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000066734
Gene: ENSMUSG00000055540
AA Change: T531A

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: 98.3%

Validation Efficiency

100% (44/44)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	T	A	17: 48,347,580 (GRCm39)	K241N	possibly damaging	Het
Adam5	A	T	8: 25,296,510 (GRCm39)	S312R	probably damaging	Het
Atg9a	C	T	1: 75,163,086 (GRCm39)	C338Y	possibly damaging	Het
Cage1	T	C	13: 38,196,447 (GRCm39)	E749G	possibly damaging	Het
Catspere2	C	A	1: 177,931,275 (GRCm39)	T398K	unknown	Het
Ccdc88b	T	C	19: 6,833,213 (GRCm39)	E278G	probably damaging	Het
Ccndbp1	T	C	2: 120,839,013 (GRCm39)	V8A	probably benign	Het
Cenpt	T	C	8: 106,575,418 (GRCm39)	D228G	probably benign	Het
Cfap57	A	G	4: 118,463,731 (GRCm39)		probably null	Het
Cyp4a32	T	A	4: 115,468,422 (GRCm39)	N301K	probably benign	Het
Gmeb1	A	T	4: 131,962,156 (GRCm39)	C168S	probably damaging	Het
H2-DMa	G	A	17: 34,357,132 (GRCm39)	R210H	possibly damaging	Het
Ighv1-7	T	G	12: 114,502,198 (GRCm39)	T90P	probably damaging	Het
Kalrn	A	C	16: 33,916,249 (GRCm39)	M1R	probably null	Het
Kcnrg	CACAACAA	CACAA	14: 61,845,009 (GRCm39)		probably benign	Het
Krtap14	T	C	16: 88,622,865 (GRCm39)	D38G	possibly damaging	Het
Lrrc8e	A	G	8: 4,283,964 (GRCm39)	N63S	probably benign	Het
Map4k2	T	A	19: 6,392,814 (GRCm39)	L152Q	probably damaging	Het
Mcf2l	A	G	8: 13,023,048 (GRCm39)	D78G	possibly damaging	Het
Ms4a6c	T	C	19: 11,449,851 (GRCm39)	V81A	probably benign	Het
Mtnr1b	T	C	9: 15,785,660 (GRCm39)	T33A	probably benign	Het
Muc16	T	A	9: 18,566,624 (GRCm39)	Q1965L	unknown	Het
Nfatc2	A	C	2: 168,328,898 (GRCm39)		probably benign	Het
Nlrp9b	C	T	7: 19,779,707 (GRCm39)	T790I	possibly damaging	Het
Nol4	A	T	18: 22,902,899 (GRCm39)	C371S	probably damaging	Het
Ntn1	A	C	11: 68,148,485 (GRCm39)		probably benign	Het
Or14j3	A	G	17: 37,900,633 (GRCm39)	S204P	possibly damaging	Het
Orc1	T	C	4: 108,469,357 (GRCm39)	V727A	probably benign	Het
Phf20l1	C	T	15: 66,484,888 (GRCm39)	Q318*	probably null	Het
Psg18	A	T	7: 18,083,185 (GRCm39)	Y323*	probably null	Het
Ptk2b	T	C	14: 66,409,189 (GRCm39)	Y529C	probably damaging	Het
Rrm1	A	G	7: 102,108,598 (GRCm39)	Y374C	probably damaging	Het
Selp	T	A	1: 163,964,765 (GRCm39)	F476I	probably damaging	Het
Sema3b	A	G	9: 107,478,957 (GRCm39)		probably null	Het
Setdb2	T	G	14: 59,639,849 (GRCm39)	T665P	probably damaging	Het
Sorbs3	T	C	14: 70,424,387 (GRCm39)	Y515C	probably damaging	Het
St13	G	A	15: 81,272,575 (GRCm39)	P90S	possibly damaging	Het
Stag1	T	A	9: 100,836,306 (GRCm39)	I1197N	probably damaging	Het
Svs3a	A	G	2: 164,132,179 (GRCm39)	Y250C	probably damaging	Het
Ticam1	T	C	17: 56,577,428 (GRCm39)	I556V	probably benign	Het
Vmn1r180	A	G	7: 23,651,620 (GRCm39)		probably benign	Het
Xirp2	T	A	2: 67,342,235 (GRCm39)	L1492*	probably null	Het
Zfp438	A	G	18: 5,214,379 (GRCm39)	V193A	probably benign	Het
Zfp729b	A	G	13: 67,739,337 (GRCm39)	V976A	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
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
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'- TGCCAGCCATACTGCTTAGG -3'
(R):5'- ACTACCCAGTGTGAGGACTG -3'

Sequencing Primer
(F):5'- CCAAAACAACTACAACAACCACC -3'
(R):5'- AGGACTGTGGTGGAGGACTC -3'

Posted On

2022-06-15