Mutagenetix > Incidental Mutation

Incidental Mutation 'R4832:Epha6'

372945

Institutional Source

Beutler Lab

Gene Symbol

Epha6

Ensembl Gene

ENSMUSG00000055540

Gene Name

Eph receptor A6

Synonyms

m-ehk2, Hek12, Ehk2

MMRRC Submission

042448-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4832 (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 59960413 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 642 (I642F)

Ref Sequence

ENSEMBL: ENSMUSP00000066734 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000068860
AA Change: I642F

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000066734
Gene: ENSMUSG00000055540
AA Change: I642F

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

Meta Mutation Damage Score

0.0884

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

98% (106/108)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	T	C	3: 68,870,264	V186A	possibly damaging	Het
1700088E04Rik	A	T	15: 79,135,209	M198K	probably damaging	Het
4931406P16Rik	T	C	7: 34,238,908		probably benign	Het
4933402J07Rik	A	G	8: 87,567,973	K84R	probably null	Het
9930021J03Rik	G	T	19: 29,717,216	L1626I	possibly damaging	Het
A530099J19Rik	T	A	13: 19,729,670		noncoding transcript	Het
Aamdc	T	C	7: 97,550,566		probably null	Het
Abcc9	A	G	6: 142,671,556	V594A	probably damaging	Het
Adamts13	G	A	2: 26,989,402	D656N	probably benign	Het
Adcy10	G	T	1: 165,506,644	C122F	probably damaging	Het
Adi1	A	G	12: 28,675,253	M1V	probably null	Het
Ahnak	G	A	19: 9,012,460		probably benign	Het
Akt1	G	T	12: 112,657,087	P313Q	probably damaging	Het
Ano3	A	T	2: 110,667,722	M758K	probably damaging	Het
Baz2a	T	A	10: 128,123,130	N1168K	probably benign	Het
Bbs10	A	G	10: 111,301,134	K703E	probably benign	Het
Bcap29	A	G	12: 31,624,203	I131T	probably benign	Het
Btnl6	T	C	17: 34,513,992	D299G	possibly damaging	Het
Ccdc66	A	G	14: 27,500,567	I73T	probably benign	Het
Cdh2	A	G	18: 16,627,697	S538P	probably benign	Het
Cfap54	T	A	10: 92,967,528	M1551L	probably benign	Het
Chd2	G	A	7: 73,502,125	A243V	probably damaging	Het
Cntnap1	T	A	11: 101,183,019	N665K	probably damaging	Het
Colgalt2	C	T	1: 152,484,998	T262I	possibly damaging	Het
Cyp24a1	T	C	2: 170,496,178	I149V	probably benign	Het
Cyp2a5	T	A	7: 26,835,545		probably null	Het
Dab2	A	G	15: 6,336,599		probably null	Het
Dnah17	T	A	11: 118,026,780	I4158F	probably damaging	Het
Dnm2	G	A	9: 21,474,679		probably null	Het
Dpp7	A	T	2: 25,352,386		probably benign	Het
Erbb4	T	C	1: 68,330,238	S415G	probably benign	Het
Fancd2	A	G	6: 113,553,722	T439A	probably benign	Het
Fat1	G	A	8: 45,013,065	V1431M	possibly damaging	Het
Fhod3	G	A	18: 25,090,248	A884T	probably benign	Het
Fsip2	A	G	2: 82,990,171	D5416G	possibly damaging	Het
Gabarap	C	T	11: 69,991,852		probably benign	Het
Gm11544	C	T	11: 94,845,706		noncoding transcript	Het
Gnat2	A	C	3: 108,100,648	K304Q	probably benign	Het
Gramd4	C	T	15: 86,134,856	A575V	probably benign	Het
Gtpbp10	G	A	5: 5,539,295	A274V	possibly damaging	Het
Gzmb	A	G	14: 56,260,222	I187T	probably damaging	Het
H2-M10.2	G	A	17: 36,284,327	T315I	probably damaging	Het
Haus5	A	T	7: 30,657,027	F524I	probably damaging	Het
Herc1	A	G	9: 66,495,971	S4391G	probably benign	Het
Herc2	T	A	7: 56,098,417	L511*	probably null	Het
Htt	T	A	5: 34,824,840	C923S	probably benign	Het
Idua	T	C	5: 108,669,381	S7P	probably benign	Het
Ighv16-1	A	T	12: 114,068,846	L112Q	probably damaging	Het
Igkv1-110	A	G	6: 68,271,201	K98R	probably benign	Het
Kif15	G	A	9: 123,002,126		probably null	Het
Leng9	C	A	7: 4,149,030	G216W	probably damaging	Het
Lrpprc	A	G	17: 84,707,156	L1306S	probably benign	Het
Lztfl1	C	A	9: 123,715,389	E20D	possibly damaging	Het
Maob	T	C	X: 16,716,423	T400A	probably benign	Het
Map3k4	C	T	17: 12,271,780	E255K	probably damaging	Het
Megf9	G	A	4: 70,534,428	T132M	probably damaging	Het
Mob4	T	C	1: 55,145,252		probably benign	Het
Mttp	G	A	3: 138,116,050	A252V	probably benign	Het
Mxi1	A	G	19: 53,370,314	D226G	probably damaging	Het
Myh14	A	G	7: 44,625,142	S1249P	probably benign	Het
Mylk	G	A	16: 34,922,367	G1083D	probably benign	Het
Mylk4	T	G	13: 32,721,977	I408L	probably benign	Het
Nbas	A	G	12: 13,483,739	S1792G	probably benign	Het
Nelfb	A	G	2: 25,209,969	V212A	probably damaging	Het
Nisch	T	C	14: 31,177,630		probably benign	Het
Nqo1	C	G	8: 107,388,845	D267H	probably benign	Het
Olfr1037	C	A	2: 86,084,846	L310F	probably benign	Het
Pcid2	T	A	8: 13,085,425	I195F	probably damaging	Het
Pcnx2	A	T	8: 125,752,188	M2107K	probably damaging	Het
Pgd	A	T	4: 149,156,591		probably benign	Het
Prim2	T	C	1: 33,464,064	M430V	probably benign	Het
Prkaa1	A	G	15: 5,160,620	T40A	probably damaging	Het
Ptges	T	C	2: 30,903,220		probably benign	Het
Ptprn	T	C	1: 75,258,265	E226G	probably benign	Het
Rab14	A	G	2: 35,189,966	F55S	probably damaging	Het
Ralgps2	A	T	1: 156,857,067		probably benign	Het
Rgs11	C	T	17: 26,207,568	H258Y	probably benign	Het
Rhpn2	T	C	7: 35,376,349		probably null	Het
Rprd2	A	T	3: 95,774,171	V452E	probably damaging	Het
Scube3	C	A	17: 28,166,015	H646Q	probably damaging	Het
Selp	A	T	1: 164,126,340	I70F	probably damaging	Het
Sept2	A	G	1: 93,499,127	I153V	probably damaging	Het
Sh3rf3	G	A	10: 58,814,083	S170N	probably benign	Het
Skint4	A	T	4: 112,143,766	I353F	possibly damaging	Het
Slc16a12	A	G	19: 34,680,380	I41T	possibly damaging	Het
Snai2	T	C	16: 14,707,017	F129S	probably damaging	Het
Top3b	C	T	16: 16,890,662	R629*	probably null	Het
Trim17	T	A	11: 58,971,444	V434E	probably damaging	Het
Ttn	G	A	2: 76,784,983	P15051L	probably damaging	Het
Uggt2	A	T	14: 119,001,847	I1391N	probably damaging	Het
Usp8	A	T	2: 126,755,038	M923L	probably damaging	Het
Vmn1r176	T	C	7: 23,835,038	H230R	possibly damaging	Het
Vmn1r217	C	A	13: 23,113,989	D248Y	probably damaging	Het
Vmn2r14	A	T	5: 109,216,110	C647S	probably damaging	Het
Vwa5b1	A	G	4: 138,605,540	I237T	probably damaging	Het
Zan	T	A	5: 137,393,161	D4687V	unknown	Het
Zfp273	T	C	13: 67,825,365	V204A	probably benign	Het
Zfp956	T	G	6: 47,952,053		probably benign	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
R4895:Epha6	UTSW	16	59666555	missense	probably benign	0.08
R5014:Epha6	UTSW	16	59666579	missense	probably benign	0.00
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'- ATGCTGGTAGCTGCTACTCC -3'
(R):5'- TGGTGACCTTAGTTCTGCAAAC -3'

Sequencing Primer
(F):5'- AGCCCAGTGGAGTTCCCTTG -3'
(R):5'- GGTGACCTTAGTTCTGCAAACATTAC -3'

Posted On

2016-03-01