Mutagenetix > Incidental Mutation

Incidental Mutation 'R6076:Epha6'

482762

Institutional Source

Beutler Lab

Gene Symbol

Epha6

Ensembl Gene

ENSMUSG00000055540

Gene Name

Eph receptor A6

Synonyms

Ehk2, m-ehk2, Hek12

MMRRC Submission

044237-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6076 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59473846-60425894 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 60026073 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 456 (D456E)

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: D456E

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

SMART Domains

Protein: ENSMUSP00000066734
Gene: ENSMUSG00000055540
AA Change: D456E

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: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Atp6v0a1	T	A	11: 100,945,886 (GRCm39)	I723N	probably damaging	Het
C530025M09Rik	T	C	2: 149,672,670 (GRCm39)		probably benign	Het
Cdkn1a	A	G	17: 29,318,332 (GRCm39)	K149E	probably damaging	Het
Cep70	T	A	9: 99,180,558 (GRCm39)	I571N	probably damaging	Het
Cimip4	T	C	15: 78,270,427 (GRCm39)	R114G	possibly damaging	Het
Col9a1	A	T	1: 24,234,457 (GRCm39)		probably benign	Het
Csde1	G	A	3: 102,948,545 (GRCm39)	D132N	possibly damaging	Het
Dlk1	A	G	12: 109,425,895 (GRCm39)	Q256R	probably damaging	Het
Ephx2	A	G	14: 66,330,297 (GRCm39)	V354A	probably damaging	Het
Fpr-rs4	A	G	17: 18,242,317 (GRCm39)	N108S	probably damaging	Het
Gimap1	C	T	6: 48,719,521 (GRCm39)	Q116*	probably null	Het
Gm10784	T	C	13: 50,099,310 (GRCm39)		noncoding transcript	Het
Grid2ip	G	C	5: 143,373,130 (GRCm39)	S736T	probably benign	Het
Hic1	T	C	11: 75,058,154 (GRCm39)	D245G	probably damaging	Het
Hpcal4	C	A	4: 123,084,514 (GRCm39)	Q148K	probably benign	Het
Hspa14	C	T	2: 3,512,109 (GRCm39)	S55N	probably benign	Het
Hspa1b	G	A	17: 35,176,473 (GRCm39)	T504I	probably damaging	Het
Jchain	G	T	5: 88,675,631 (GRCm39)	T3N	probably benign	Het
Kl	C	G	5: 150,876,466 (GRCm39)	F95L	probably damaging	Het
Kndc1	A	G	7: 139,481,954 (GRCm39)	T115A	probably damaging	Het
Lrp8	G	T	4: 107,704,656 (GRCm39)	R292L	possibly damaging	Het
Lrrc15	T	A	16: 30,091,806 (GRCm39)	D511V	probably benign	Het
Mapk8	A	G	14: 33,112,250 (GRCm39)	C213R	probably damaging	Het
Mcph1	C	T	8: 18,682,015 (GRCm39)	P384L	probably benign	Het
Mrps7	T	C	11: 115,495,713 (GRCm39)	S84P	probably damaging	Het
Nceh1	A	C	3: 27,333,344 (GRCm39)	I147L	probably benign	Het
Noxa1	A	T	2: 24,975,821 (GRCm39)	I409N	probably damaging	Het
Or1p1c	T	C	11: 74,161,088 (GRCm39)	I291T	probably damaging	Het
Pkd1	G	A	17: 24,800,004 (GRCm39)	G2975R	probably benign	Het
Ppip5k1	T	C	2: 121,167,591 (GRCm39)	D17G	probably null	Het
Prex2	T	A	1: 11,256,174 (GRCm39)	Y1182N	probably benign	Het
Rasa2	T	C	9: 96,427,699 (GRCm39)	N722S	probably benign	Het
Rcc1l	A	G	5: 134,198,167 (GRCm39)	V155A	possibly damaging	Het
Rest	A	G	5: 77,430,821 (GRCm39)	E1080G	unknown	Het
Sacs	A	T	14: 61,441,985 (GRCm39)	K1344*	probably null	Het
Sec16a	C	T	2: 26,313,954 (GRCm39)	E1884K	probably damaging	Het
Secisbp2	C	A	13: 51,833,813 (GRCm39)	T651K	probably damaging	Het
Sema3e	A	G	5: 14,291,100 (GRCm39)	D620G	probably benign	Het
Slc6a17	A	G	3: 107,379,387 (GRCm39)	S553P	possibly damaging	Het
Smpd5	C	A	15: 76,179,092 (GRCm39)	N153K	probably damaging	Het
Ube2d4	T	A	15: 58,718,992 (GRCm39)		noncoding transcript	Het
Vps13c	A	G	9: 67,818,884 (GRCm39)	I1102V	probably damaging	Het
Wdr36	C	A	18: 32,979,998 (GRCm39)	S241Y	probably damaging	Het
Wdr7	T	A	18: 63,872,348 (GRCm39)	D427E	probably damaging	Het
Zfp945	G	A	17: 23,070,432 (GRCm39)	P489L	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- TGGGAGAGATGCTCAACTCAG -3'
(R):5'- CACCATTAAAGTTTCCTCCTTAAGC -3'

Sequencing Primer
(F):5'- GGAGAGATGCTCAACTCAGAAACTC -3'
(R):5'- AAGTTTCCTCCTTAAGCTTCATTAG -3'

Posted On

2017-07-14