Mutagenetix > Incidental Mutations

Incidental Mutation 'R4572:Epha10'

342183

Institutional Source

Beutler Lab

Gene Symbol

Epha10

Ensembl Gene

ENSMUSG00000028876

Gene Name

Eph receptor A10

Synonyms

MMRRC Submission

041796-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4572 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124880899-124917800 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 124902568 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 357 (T357A)

Gene Model

predicted gene model for transcript(s):

Predicted Effect

unknown
Transcript: ENSMUST00000149146
AA Change: T357A

SMART Domains

Protein: ENSMUSP00000118801
Gene: ENSMUSG00000028876
AA Change: T357A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151791

Meta Mutation Damage Score

0.0818

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

100% (71/71)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,216,548	I747N	probably benign	Het
Adamtsl2	A	G	2: 27,083,256	Y97C	probably damaging	Het
Alox12e	A	G	11: 70,321,181		probably benign	Het
Alpk2	A	T	18: 65,281,004	S2014T	probably damaging	Het
Ankrd36	A	T	11: 5,689,340		probably null	Het
Apobec1	T	C	6: 122,581,397	D133G	probably damaging	Het
Arfgef1	A	T	1: 10,213,141	I181N	probably damaging	Het
C130060K24Rik	A	T	6: 65,454,991	M293L	probably benign	Het
Cilp2	A	G	8: 69,882,410	V646A	probably damaging	Het
Clasrp	A	G	7: 19,584,464		probably null	Het
Cnot2	T	C	10: 116,494,846	T423A	probably benign	Het
Crtap	T	C	9: 114,384,806	D227G	probably benign	Het
Cyp17a1	A	G	19: 46,670,551	F217S	probably damaging	Het
Ddx60	A	G	8: 61,987,421	M1036V	probably damaging	Het
Dnah11	A	T	12: 118,010,125	I2818N	probably benign	Het
Dok6	T	A	18: 89,473,947	I169F	possibly damaging	Het
Duox2	T	A	2: 122,281,726	R1326S	probably benign	Het
Ephb2	A	C	4: 136,655,940	F942C	probably damaging	Het
Fscn3	T	A	6: 28,430,635		probably null	Het
Gabrb2	A	G	11: 42,593,917	N267S	possibly damaging	Het
Gabrr3	A	T	16: 59,461,638	Y452F	probably benign	Het
Gen1	A	G	12: 11,242,418	S457P	probably damaging	Het
Gm1993	C	T	X: 25,560,356	R77H	probably damaging	Het
Gm5592	G	A	7: 41,216,159		probably benign	Het
Hmbox1	A	G	14: 64,903,233		probably null	Het
Hus1	A	T	11: 9,007,617		probably null	Het
Ino80	G	A	2: 119,402,358	R1160W	probably damaging	Het
Kalrn	A	T	16: 34,392,042	F27L	probably damaging	Het
Kri1	A	T	9: 21,280,384	F187L	probably damaging	Het
Lekr1	A	T	3: 65,783,915		noncoding transcript	Het
Mapk15	T	C	15: 75,998,750		probably benign	Het
Mrgpre	G	A	7: 143,781,104	L221F	probably damaging	Het
Mrpl50	A	T	4: 49,514,399	S91T	possibly damaging	Het
Muc4	T	C	16: 32,753,802	I1226T	probably benign	Het
Mup15	A	G	4: 61,438,217		probably null	Het
Ncapd3	A	G	9: 27,094,615	D1469G	probably damaging	Het
Nlrp9b	G	A	7: 20,026,681		probably null	Het
Npy6r	A	T	18: 44,275,917	Y135F	probably benign	Het
Olfr862	A	C	9: 19,883,979	C109G	probably benign	Het
Phf14	G	A	6: 12,006,824	R825Q	probably damaging	Het
Pigg	A	G	5: 108,332,885	M379V	probably benign	Het
Plppr3	T	A	10: 79,866,063	Q315L	probably benign	Het
Plxnd1	C	A	6: 115,955,756	C1921F	probably damaging	Het
Ptger4	A	C	15: 5,243,133	S2A	probably benign	Het
Rab4a	A	T	8: 123,834,060	D196V	probably benign	Het
Rbck1	G	A	2: 152,318,733	Q428*	probably null	Het
Rgs14	A	T	13: 55,380,062	N266I	probably damaging	Het
Serpina1c	A	T	12: 103,898,708		probably benign	Het
Sesn3	G	A	9: 14,321,220	R263H	probably benign	Het
Slfn1	A	T	11: 83,121,463	D135V	probably benign	Het
Spata17	T	C	1: 187,193,996	K46E	possibly damaging	Het
Srcin1	A	C	11: 97,534,934	D432E	probably damaging	Het
Stxbp5	T	C	10: 9,838,144	E217G	probably damaging	Het
Terf2ip	A	G	8: 112,012,017	D179G	probably damaging	Het
Tll1	A	G	8: 64,056,309	F556L	possibly damaging	Het
Tmed4	CTCTTTCT	CTCT	11: 6,274,461		probably null	Het
Trappc9	G	T	15: 72,937,067	Q537K	possibly damaging	Het
Trim30a	G	T	7: 104,411,188	C460*	probably null	Het
Trim35	T	C	14: 66,307,873	Y298H	probably damaging	Het
Ugt3a1	T	A	15: 9,306,393	H209Q	probably benign	Het
Ulk4	T	C	9: 121,192,764	K627R	probably damaging	Het
Wnk1	T	C	6: 119,951,911	T1319A	possibly damaging	Het
Wnt9b	G	A	11: 103,732,155	R141C	probably damaging	Het
Zfp735	A	G	11: 73,689,785	M37V	probably benign	Het
Zmym1	A	T	4: 127,050,835	N186K	probably benign	Het

Other mutations in Epha10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01969:Epha10	APN	4	124885877	missense	probably damaging	1.00
R1319:Epha10	UTSW	4	124881914	missense	probably benign
R1544:Epha10	UTSW	4	124885596	missense	probably damaging	1.00
R4504:Epha10	UTSW	4	124915687	unclassified	probably benign
R4505:Epha10	UTSW	4	124915687	unclassified	probably benign
R4507:Epha10	UTSW	4	124915687	unclassified	probably benign
R4605:Epha10	UTSW	4	124885757	missense	probably damaging	1.00
R4818:Epha10	UTSW	4	124886214	critical splice donor site	probably null
R5037:Epha10	UTSW	4	124915385	unclassified	probably benign
R5281:Epha10	UTSW	4	124913988	unclassified	probably benign
R5319:Epha10	UTSW	4	124914000	unclassified	probably benign
R5322:Epha10	UTSW	4	124885748	missense	probably damaging	1.00
R5400:Epha10	UTSW	4	124914121	unclassified	probably benign
R5681:Epha10	UTSW	4	124902566	missense	unknown
R5694:Epha10	UTSW	4	124902653	missense	unknown
R6813:Epha10	UTSW	4	124902693	missense
R7471:Epha10	UTSW	4	124902572	missense
R7732:Epha10	UTSW	4	124915299	missense
R7735:Epha10	UTSW	4	124913679	missense
R7793:Epha10	UTSW	4	124914453	missense	probably benign	0.00
X0026:Epha10	UTSW	4	124885547	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGAAGCTCTGGCCTATTATGGG -3'
(R):5'- TGCATCCAGAATCTTCCAAGC -3'

Sequencing Primer
(F):5'- AAGCTCTGGCCTATTATGGGATTGAG -3'
(R):5'- TCCAGAATCTTCCAAGCACTCAC -3'

Posted On

2015-09-24