Mutagenetix > Incidental Mutation

Incidental Mutation 'R6813:Epha10'

533932

Institutional Source

Beutler Lab

Gene Symbol

Epha10

Ensembl Gene

ENSMUSG00000028876

Gene Name

Eph receptor A10

Synonyms

MMRRC Submission

044925-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6813 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124775408-124811594 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 124796486 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 398 (S398R)

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

SMART Domains

Protein: ENSMUSP00000118801
Gene: ENSMUSG00000028876
AA Change: S398R

Domain	Start	End	E-Value	Type
Pfam:Ephrin_lbd	1	66	2.2e-25	PFAM
low complexity region	74	87	N/A	INTRINSIC
FN3	193	290	6.54e-6	SMART
FN3	306	392	1.66e-7	SMART
Pfam:EphA2_TM	421	496	2.4e-15	PFAM
TyrKc	499	754	5.17e-90	SMART
SAM	784	851	1.2e-15	SMART
low complexity region	852	862	N/A	INTRINSIC

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 98.9%
20x: 96.9%

Validation Efficiency

100% (61/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ephrin receptors, the largest subfamily of receptor tyrosine kinases (RTKs), and their ephrin ligands are important mediators of cell-cell communication regulating cell attachment, shape, and mobility in neuronal and epithelial cells (Aasheim et al., 2005 [PubMed 15777695]). See MIM 179610 for additional background on Eph receptors and ephrins.[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	C	A	4: 129,903,284 (GRCm39)	Q603K	probably damaging	Het
Adgrf3	A	G	5: 30,402,519 (GRCm39)	F503S	probably damaging	Het
Arfgap3	A	T	15: 83,214,794 (GRCm39)	M164K	probably benign	Het
Asb13	G	T	13: 3,695,029 (GRCm39)	V166F	probably damaging	Het
Atm	T	G	9: 53,408,535 (GRCm39)	R1103S	probably benign	Het
Atxn7l1	T	C	12: 33,417,123 (GRCm39)	I626T	probably damaging	Het
Brsk2	A	G	7: 141,556,214 (GRCm39)	I649V	probably benign	Het
Ccdc25	T	A	14: 66,093,882 (GRCm39)	M85K	probably benign	Het
Cdc42bpb	A	G	12: 111,294,049 (GRCm39)	V231A	probably damaging	Het
Clstn3	T	A	6: 124,413,894 (GRCm39)	M767L	probably benign	Het
Col6a6	C	T	9: 105,661,140 (GRCm39)	R323K	probably benign	Het
Cplane1	T	A	15: 8,258,766 (GRCm39)	N2337K	probably benign	Het
Creld1	A	G	6: 113,466,530 (GRCm39)	Y199C	probably damaging	Het
Csf1r	T	A	18: 61,245,806 (GRCm39)	D254E	probably benign	Het
Dab2ip	C	T	2: 35,620,485 (GRCm39)	Q1118*	probably null	Het
Dcun1d4	C	A	5: 73,678,300 (GRCm39)	S98R	possibly damaging	Het
Disp3	G	A	4: 148,344,387 (GRCm39)	P505L	probably benign	Het
Dlec1	A	T	9: 118,941,170 (GRCm39)	Q240L	probably benign	Het
Dnai4	T	C	4: 102,905,523 (GRCm39)	K753E	probably benign	Het
Edil3	T	A	13: 89,437,575 (GRCm39)	I392N	probably damaging	Het
Ephb1	A	G	9: 101,887,247 (GRCm39)	I464T	possibly damaging	Het
Eps15	T	A	4: 109,137,599 (GRCm39)		probably null	Het
Fam111a	T	A	19: 12,564,706 (GRCm39)	C152S	probably damaging	Het
Flt3	T	C	5: 147,291,653 (GRCm39)	E599G	probably damaging	Het
Frmd3	T	C	4: 74,077,482 (GRCm39)	S259P	probably benign	Het
Hsfy2	A	G	1: 56,675,461 (GRCm39)	Y359H	possibly damaging	Het
Ifih1	C	T	2: 62,476,037 (GRCm39)	V80M	possibly damaging	Het
Il12rb2	A	C	6: 67,269,358 (GRCm39)	D818E	probably damaging	Het
Il4i1	A	G	7: 44,489,236 (GRCm39)	T334A	probably benign	Het
Irs2	G	A	8: 11,054,659 (GRCm39)	Q1258*	probably null	Het
Lsm1	T	G	8: 26,283,721 (GRCm39)	H44Q	probably benign	Het
Mgam	A	T	6: 40,727,099 (GRCm39)	M1257L	probably damaging	Het
Myc	T	C	15: 61,860,001 (GRCm39)	S225P	probably damaging	Het
Myh1	T	C	11: 67,111,286 (GRCm39)	V1575A	probably benign	Het
Myo9b	A	G	8: 71,775,949 (GRCm39)	D380G	probably damaging	Het
Ncoa7	T	A	10: 30,572,188 (GRCm39)	D157V	probably damaging	Het
Or10g9b	T	A	9: 39,917,753 (GRCm39)	H164L	probably benign	Het
Or2t44	G	T	11: 58,677,472 (GRCm39)	Q137H	probably benign	Het
Or7g16	G	A	9: 18,727,188 (GRCm39)	T134M	probably benign	Het
Or8b36	T	C	9: 37,937,129 (GRCm39)	V9A	probably damaging	Het
Or8b9	A	C	9: 37,766,810 (GRCm39)	E232A	possibly damaging	Het
Pccb	A	G	9: 100,905,268 (GRCm39)	V117A	probably damaging	Het
Pdp2	C	T	8: 105,321,131 (GRCm39)	H327Y	probably damaging	Het
Pdzph1	G	T	17: 59,281,431 (GRCm39)	Q284K	probably benign	Het
Phka2	G	A	X: 159,316,044 (GRCm39)	V230I	probably damaging	Het
Phldb1	A	T	9: 44,610,865 (GRCm39)	S751R	probably damaging	Het
Pira1	T	C	7: 3,739,002 (GRCm39)	H535R	probably benign	Het
Ppp1r1b	T	A	11: 98,240,002 (GRCm39)		probably null	Het
Ppp1r3a	A	G	6: 14,719,570 (GRCm39)	V448A	probably benign	Het
Pvrig-ps	A	T	5: 138,340,312 (GRCm39)	T28S	probably benign	Het
Rasgrf1	G	A	9: 89,892,537 (GRCm39)		probably null	Het
Scnn1g	T	C	7: 121,339,576 (GRCm39)	L125S	probably damaging	Het
Slc30a7	A	T	3: 115,775,460 (GRCm39)	D221E	probably benign	Het
Spata31e1	T	A	13: 49,940,872 (GRCm39)	R279S	probably benign	Het
Tmem30c	A	G	16: 57,101,622 (GRCm39)		probably null	Het
Tmem33	T	C	5: 67,421,802 (GRCm39)		probably null	Het
Ttc29	A	T	8: 79,060,249 (GRCm39)	T390S	probably benign	Het
Vamp5	G	A	6: 72,357,424 (GRCm39)		probably benign	Het
Vmn2r81	T	A	10: 79,104,439 (GRCm39)	F354Y	probably benign	Het
Vmn2r96	A	G	17: 18,802,116 (GRCm39)	H119R	probably benign	Het
Wdr3	G	A	3: 100,046,041 (GRCm39)	R931*	probably null	Het
Wtap	A	T	17: 13,186,397 (GRCm39)	N383K	probably damaging	Het
Zfp808	T	C	13: 62,320,849 (GRCm39)	Y693H	probably damaging	Het

Other mutations in Epha10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01969:Epha10	APN	4	124,779,670 (GRCm39)	missense	probably damaging	1.00
R1319:Epha10	UTSW	4	124,775,707 (GRCm39)	missense	probably benign
R1544:Epha10	UTSW	4	124,779,389 (GRCm39)	missense	probably damaging	1.00
R4504:Epha10	UTSW	4	124,809,480 (GRCm39)	unclassified	probably benign
R4505:Epha10	UTSW	4	124,809,480 (GRCm39)	unclassified	probably benign
R4507:Epha10	UTSW	4	124,809,480 (GRCm39)	unclassified	probably benign
R4572:Epha10	UTSW	4	124,796,361 (GRCm39)	missense	unknown
R4605:Epha10	UTSW	4	124,779,550 (GRCm39)	missense	probably damaging	1.00
R4818:Epha10	UTSW	4	124,780,007 (GRCm39)	critical splice donor site	probably null
R5037:Epha10	UTSW	4	124,809,178 (GRCm39)	unclassified	probably benign
R5281:Epha10	UTSW	4	124,807,781 (GRCm39)	unclassified	probably benign
R5319:Epha10	UTSW	4	124,807,793 (GRCm39)	unclassified	probably benign
R5322:Epha10	UTSW	4	124,779,541 (GRCm39)	missense	probably damaging	1.00
R5400:Epha10	UTSW	4	124,807,914 (GRCm39)	unclassified	probably benign
R5681:Epha10	UTSW	4	124,796,359 (GRCm39)	missense	unknown
R5694:Epha10	UTSW	4	124,796,446 (GRCm39)	missense	unknown
R7471:Epha10	UTSW	4	124,796,365 (GRCm39)	missense
R7699:Epha10	UTSW	4	124,796,440 (GRCm39)	missense
R7732:Epha10	UTSW	4	124,809,092 (GRCm39)	missense
R7735:Epha10	UTSW	4	124,807,472 (GRCm39)	missense
R7793:Epha10	UTSW	4	124,808,246 (GRCm39)	missense	probably benign	0.00
R7899:Epha10	UTSW	4	124,808,628 (GRCm39)	missense
R8057:Epha10	UTSW	4	124,796,476 (GRCm39)	missense
R8142:Epha10	UTSW	4	124,779,639 (GRCm39)	missense	probably damaging	0.99
R8558:Epha10	UTSW	4	124,788,777 (GRCm39)	missense
R9136:Epha10	UTSW	4	124,796,427 (GRCm39)	missense
R9494:Epha10	UTSW	4	124,808,649 (GRCm39)	missense
R9515:Epha10	UTSW	4	124,775,704 (GRCm39)	missense	probably benign
R9540:Epha10	UTSW	4	124,779,751 (GRCm39)	missense	probably damaging	0.98
X0026:Epha10	UTSW	4	124,779,340 (GRCm39)	missense	probably damaging	1.00
Z1176:Epha10	UTSW	4	124,779,568 (GRCm39)	missense	probably damaging	1.00
Z1176:Epha10	UTSW	4	124,777,735 (GRCm39)	missense	probably damaging	1.00
Z1177:Epha10	UTSW	4	124,775,753 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CCCCAATTTCAGGGTAGTCC -3'
(R):5'- TGACTAAGATGTGAAGTGCTTCCC -3'

Sequencing Primer
(F):5'- TCTCAGCCTCTTGGGTCGG -3'
(R):5'- CGGAACTCACTCTGGAGATCAG -3'

Posted On

2018-09-12