Mutagenetix > Incidental Mutation

Incidental Mutation 'R5014:Epha6'

385456

Institutional Source

Beutler Lab

Gene Symbol

Epha6

Ensembl Gene

ENSMUSG00000055540

Gene Name

Eph receptor A6

Synonyms

m-ehk2, Hek12, Ehk2

MMRRC Submission

042605-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5014 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59653483-60605531 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59666579 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 1035 (H1035L)

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: H1035L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000066734
Gene: ENSMUSG00000055540
AA Change: H1035L

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: ENSMUST00000232158

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232302

Meta Mutation Damage Score

0.0589

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.4%
20x: 91.7%

Validation Efficiency

97% (83/86)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,543,933	T1353A	probably benign	Het
Abca8b	A	T	11: 109,950,131	I1072N	probably damaging	Het
Atp1a2	T	C	1: 172,284,871	T517A	probably benign	Het
Blk	T	G	14: 63,379,787	N257T	probably benign	Het
Brd4	A	T	17: 32,198,398		probably benign	Het
Calr4	C	T	4: 109,235,797	Q25*	probably null	Het
Casc1	T	C	6: 145,183,266	E407G	probably damaging	Het
Cbl	T	C	9: 44,154,399		probably null	Het
Ccdc30	T	G	4: 119,393,627	H6P	possibly damaging	Het
Cd101	A	C	3: 101,003,823	Y840D	probably damaging	Het
Cd68	T	A	11: 69,665,339	N178Y	probably damaging	Het
Cep350	T	C	1: 155,928,206	T1044A	probably benign	Het
Cfap46	A	G	7: 139,627,375	V1876A	probably benign	Het
Clec2g	T	A	6: 128,948,802	M58K	probably benign	Het
Clip1	T	C	5: 123,617,730	E860G	probably damaging	Het
Col18a1	C	T	10: 77,070,960		probably null	Het
Cul7	A	G	17: 46,655,942	*650W	probably null	Het
Dkk4	C	T	8: 22,625,299	A55V	probably benign	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
Dnase1	C	A	16: 4,039,016	Y170*	probably null	Het
Dnmt1	A	C	9: 20,912,254	I1019S	probably benign	Het
Fam124b	T	C	1: 80,200,059	T408A	probably benign	Het
Fam227b	G	A	2: 126,116,123	P241S	probably damaging	Het
Fam71f1	C	T	6: 29,326,724		probably benign	Het
Galnt7	T	C	8: 57,545,380	E305G	probably damaging	Het
Git1	T	A	11: 77,498,995	V28E	probably damaging	Het
Gm10010	C	T	6: 128,200,593		noncoding transcript	Het
Gm4956	T	C	1: 21,293,597		noncoding transcript	Het
Gpr152	T	G	19: 4,143,507	V349G	probably benign	Het
Gtsf1l	C	T	2: 163,087,192	V124I	probably damaging	Het
Gucy1b1	C	G	3: 82,046,667	G114A	probably benign	Het
Hk2	T	C	6: 82,743,955	Q166R	possibly damaging	Het
Hook2	A	G	8: 84,991,377	I44M	probably damaging	Het
Ildr1	T	A	16: 36,721,559	M222K	probably damaging	Het
Ints6	A	T	14: 62,760,191	F55Y	probably benign	Het
Kcnh1	A	G	1: 192,277,080	N314S	probably damaging	Het
Lpin3	T	C	2: 160,904,828	F748L	probably damaging	Het
Lrsam1	T	C	2: 32,936,395		probably benign	Het
Msh2	A	T	17: 87,717,576	K627N	possibly damaging	Het
Myrip	A	G	9: 120,422,468	Q219R	probably damaging	Het
Ndufb3	T	A	1: 58,591,242	W51R	probably damaging	Het
Nfasc	A	T	1: 132,584,447		probably benign	Het
Olfr15	T	A	16: 3,839,048	I25N	probably benign	Het
Olfr281	T	C	15: 98,456,976	V222A	possibly damaging	Het
Olfr90	T	A	17: 37,085,554	I204F	probably benign	Het
P3h3	T	A	6: 124,855,236	E229V	probably damaging	Het
Ppfia2	T	A	10: 106,865,363	L837*	probably null	Het
Ppp2r1a	G	A	17: 20,958,839		probably null	Het
Rabgap1	T	A	2: 37,487,140	V328E	probably damaging	Het
Ralgapb	G	A	2: 158,495,535	R1138Q	probably damaging	Het
Ranbp2	A	T	10: 58,464,120	Q498L	probably benign	Het
Rbx1	T	A	15: 81,470,960	C56S	probably damaging	Het
Rcan2	T	C	17: 44,017,813	F45S	probably damaging	Het
Rgs20	T	C	1: 4,910,547	Y185C	probably damaging	Het
Rorc	T	G	3: 94,391,153	L315R	probably damaging	Het
Skiv2l	A	G	17: 34,847,425	V194A	probably benign	Het
Slc13a2	T	C	11: 78,400,161	K406E	possibly damaging	Het
Slc35g3	T	A	11: 69,761,040	K62*	probably null	Het
Sox30	T	C	11: 45,991,909	S589P	probably benign	Het
Sp110	A	C	1: 85,577,329	F434C	probably benign	Het
Ssh2	T	A	11: 77,455,276	C1362*	probably null	Het
Tecta	C	T	9: 42,373,242	C849Y	probably damaging	Het
Thbs1	T	A	2: 118,120,037		probably null	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Tyk2	C	T	9: 21,115,830		probably null	Het
Tyw5	C	A	1: 57,406,845		probably benign	Het
Vcp	T	C	4: 42,980,828	T761A	probably benign	Het
Wdfy4	A	T	14: 33,100,940	C1401S	probably benign	Het
Wiz	T	C	17: 32,359,366	N391D	probably damaging	Het
Ylpm1	G	A	12: 85,014,749	E475K	unknown	Het
Zcchc11	T	C	4: 108,526,846		probably benign	Het
Zfp108	G	T	7: 24,260,738	K251N	probably benign	Het
Zfp184	A	G	13: 21,958,424	D100G	probably benign	Het
Zfp990	T	A	4: 145,538,099	C556S	possibly damaging	Het
Zkscan16	C	T	4: 58,951,892	P189L	probably damaging	Het

Other mutations in Epha6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00475:Epha6	APN	16	59915962	missense	probably damaging	1.00
IGL00849:Epha6	APN	16	60425111	missense	possibly damaging	0.89
IGL00898:Epha6	APN	16	59775541	critical splice donor site	probably null
IGL01353:Epha6	APN	16	60424895	missense	probably damaging	1.00
IGL01409:Epha6	APN	16	59655737	nonsense	probably null
IGL01577:Epha6	APN	16	59956926	missense	possibly damaging	0.57
IGL01653:Epha6	APN	16	59839303	missense	probably benign	0.05
IGL01654:Epha6	APN	16	59839303	missense	probably benign	0.05
IGL01655:Epha6	APN	16	59839303	missense	probably benign	0.05
IGL01657:Epha6	APN	16	59839303	missense	probably benign	0.05
IGL01663:Epha6	APN	16	59775644	missense	probably damaging	1.00
IGL01899:Epha6	APN	16	59839303	missense	probably benign	0.05
IGL02272:Epha6	APN	16	59818937	missense	probably damaging	1.00
IGL03265:Epha6	APN	16	60060231	splice site	probably benign
IGL03333:Epha6	APN	16	59682688	missense	probably damaging	1.00
rauwulfia	UTSW	16	59682616	missense	probably damaging	1.00
PIT4377001:Epha6	UTSW	16	60205552	missense	probably damaging	0.98
R0505:Epha6	UTSW	16	60205732	missense	possibly damaging	0.89
R1593:Epha6	UTSW	16	60424904	missense	probably damaging	1.00
R1764:Epha6	UTSW	16	59775728	missense	probably null	1.00
R1836:Epha6	UTSW	16	60205745	missense	probably damaging	1.00
R2061:Epha6	UTSW	16	59655797	missense	probably damaging	1.00
R2125:Epha6	UTSW	16	59682688	missense	probably damaging	1.00
R2867:Epha6	UTSW	16	59960296	splice site	probably null
R2867:Epha6	UTSW	16	59960296	splice site	probably null
R3760:Epha6	UTSW	16	60220984	missense	possibly damaging	0.70
R4305:Epha6	UTSW	16	60526520	splice site	probably null
R4613:Epha6	UTSW	16	59666597	missense	possibly damaging	0.80
R4818:Epha6	UTSW	16	59654063	missense	probably damaging	0.99
R4832:Epha6	UTSW	16	59960413	missense	probably damaging	0.98
R4895:Epha6	UTSW	16	59666555	missense	probably benign	0.08
R5316:Epha6	UTSW	16	59954720	missense	probably damaging	0.99
R5403:Epha6	UTSW	16	59775570	missense	probably damaging	1.00
R5417:Epha6	UTSW	16	60424835	missense	possibly damaging	0.89
R5418:Epha6	UTSW	16	60424835	missense	possibly damaging	0.89
R5678:Epha6	UTSW	16	59818979	missense	probably damaging	1.00
R5775:Epha6	UTSW	16	59818994	missense	possibly damaging	0.92
R5808:Epha6	UTSW	16	59682742	missense	probably damaging	1.00
R6076:Epha6	UTSW	16	60205710	missense	probably damaging	1.00
R6146:Epha6	UTSW	16	60424835	missense	possibly damaging	0.89
R6212:Epha6	UTSW	16	60425356	missense	possibly damaging	0.77
R6242:Epha6	UTSW	16	59682662	missense	probably damaging	1.00
R6503:Epha6	UTSW	16	60205621	missense	possibly damaging	0.61
R6580:Epha6	UTSW	16	59682616	missense	probably damaging	1.00
R6726:Epha6	UTSW	16	60424835	missense	possibly damaging	0.89
R6728:Epha6	UTSW	16	60424835	missense	possibly damaging	0.89
R6798:Epha6	UTSW	16	60605064	missense	possibly damaging	0.53
R6798:Epha6	UTSW	16	60605065	missense	possibly damaging	0.53
R6903:Epha6	UTSW	16	60526462	missense	probably benign	0.00
R6999:Epha6	UTSW	16	60425170	missense	possibly damaging	0.94
R7058:Epha6	UTSW	16	59682650	missense	probably damaging	1.00
R7109:Epha6	UTSW	16	59682668	missense	probably damaging	1.00
R7263:Epha6	UTSW	16	59775665	missense	probably damaging	1.00
R7296:Epha6	UTSW	16	59915838	missense	probably benign	0.00
R7343:Epha6	UTSW	16	59960430	missense	probably damaging	0.98
R7443:Epha6	UTSW	16	59775625	missense	possibly damaging	0.93
R7533:Epha6	UTSW	16	60205562	missense	probably damaging	1.00
R7602:Epha6	UTSW	16	59775568	missense	probably damaging	1.00
R7604:Epha6	UTSW	16	60205772	missense	possibly damaging	0.89
R8321:Epha6	UTSW	16	59915954	missense	probably damaging	1.00
R8414:Epha6	UTSW	16	60005667	missense	probably damaging	1.00
R8794:Epha6	UTSW	16	60205672	missense	probably benign	0.00
R8926:Epha6	UTSW	16	59839299	missense	probably benign	0.11
R9166:Epha6	UTSW	16	60604875	missense	probably benign	0.00
R9265:Epha6	UTSW	16	59655754	missense	probably damaging	1.00
R9322:Epha6	UTSW	16	60424755	missense	probably damaging	1.00
R9442:Epha6	UTSW	16	60205487	missense	probably benign	0.26
R9742:Epha6	UTSW	16	60205702	missense	probably damaging	1.00
Z1188:Epha6	UTSW	16	59654090	missense	probably damaging	1.00
Z1189:Epha6	UTSW	16	59654090	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCTTGCTTGCCATTTCAAATAG -3'
(R):5'- GTAAGAGCGTGATCTGCGTG -3'

Sequencing Primer
(F):5'- TTGAAGAGGACACACACATGAACAC -3'
(R):5'- TGTTTGCATTTAGGTTATCTTGTCC -3'

Posted On

2016-05-10