Mutagenetix > Incidental Mutation

Incidental Mutation 'R7144:Ephb1'

553653

Institutional Source

Beutler Lab

Gene Symbol

Ephb1

Ensembl Gene

ENSMUSG00000032537

Gene Name

Eph receptor B1

Synonyms

Net, C130099E04Rik, Cek6, Hek6, Elkh, Elk

MMRRC Submission

045328-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7144 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101799327-102231892 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101841276 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 734 (Y734C)

Ref Sequence

ENSEMBL: ENSMUSP00000035129 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035129] [ENSMUST00000085169]

AlphaFold

Q8CBF3

Predicted Effect

probably damaging
Transcript: ENSMUST00000035129
AA Change: Y734C

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

SMART Domains

Protein: ENSMUSP00000035129
Gene: ENSMUSG00000032537
AA Change: Y734C

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
EPH_lbd	19	196	1.69e-129	SMART
FN3	323	416	2.44e-5	SMART
FN3	434	515	2.26e-9	SMART
Pfam:EphA2_TM	542	616	3e-24	PFAM
TyrKc	619	878	6.45e-141	SMART
SAM	908	975	1.22e-21	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000085169
AA Change: Y693C

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

SMART Domains

Protein: ENSMUSP00000082261
Gene: ENSMUSG00000032537
AA Change: Y693C

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
EPH_lbd	19	196	1.69e-129	SMART
FN3	323	416	2.44e-5	SMART
FN3	434	515	2.26e-9	SMART
transmembrane domain	541	563	N/A	INTRINSIC
TyrKc	585	837	2.35e-134	SMART
SAM	867	934	1.22e-21	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

99% (95/96)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. The protein encoded by this gene is a receptor for ephrin-B family members. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions of this gene display marked reductions of the ipsilateral optic tract. Homozygotes for one null allele show reduced corticospinal tract and abnormal anterior commissure axon crossing. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	T	7: 120,032,796 (GRCm39)	I272F	possibly damaging	Het
Adcy10	G	T	1: 165,337,939 (GRCm39)	M184I	probably benign	Het
Aldoa	G	T	7: 126,396,034 (GRCm39)	T124N	possibly damaging	Het
Ap4e1	T	A	2: 126,853,727 (GRCm39)	I55N	probably damaging	Het
Arhgap21	T	C	2: 20,870,198 (GRCm39)	T913A	probably benign	Het
Atrnl1	G	A	19: 58,030,784 (GRCm39)	E1309K	probably damaging	Het
BC034090	A	T	1: 155,117,777 (GRCm39)	C114S	probably damaging	Het
Brinp2	A	G	1: 158,122,994 (GRCm39)		probably null	Het
Ccn4	T	A	15: 66,784,879 (GRCm39)	V184E	probably damaging	Het
Ccna1	G	T	3: 54,953,120 (GRCm39)	H408Q	probably benign	Het
Cd209g	T	G	8: 4,185,189 (GRCm39)		probably benign	Het
Cdc20b	A	G	13: 113,219,905 (GRCm39)	I433V	probably benign	Het
Cdk2ap1	G	A	5: 124,492,421 (GRCm39)	P5L	probably damaging	Het
Cep128	T	C	12: 91,260,933 (GRCm39)	E310G	probably damaging	Het
Cflar	G	T	1: 58,793,007 (GRCm39)	V458F		Het
Clec4b2	A	G	6: 123,158,343 (GRCm39)	T70A	probably benign	Het
Cntnap5c	A	G	17: 58,593,883 (GRCm39)	T741A	probably benign	Het
Csf3r	A	T	4: 125,937,515 (GRCm39)	T800S	probably benign	Het
Csnk1g2	T	C	10: 80,473,733 (GRCm39)	Y67H	probably damaging	Het
Cyp2c67	A	T	19: 39,604,138 (GRCm39)	V406E	probably benign	Het
Dnah10	A	G	5: 124,900,006 (GRCm39)	D3868G	probably damaging	Het
Dnah7a	A	T	1: 53,737,867 (GRCm39)		probably null	Het
Dst	A	G	1: 34,191,324 (GRCm39)	N208S	probably damaging	Het
Echdc3	A	G	2: 6,211,224 (GRCm39)		probably null	Het
Edrf1	T	C	7: 133,239,578 (GRCm39)	S13P	probably benign	Het
Eps8l1	A	G	7: 4,475,184 (GRCm39)	Y325C	probably damaging	Het
Evc2	A	G	5: 37,544,183 (GRCm39)	D644G	probably damaging	Het
Eya4	A	C	10: 23,048,943 (GRCm39)	D54E	probably benign	Het
Filip1	T	C	9: 79,727,495 (GRCm39)	S375G	possibly damaging	Het
Fmo9	A	G	1: 166,505,189 (GRCm39)	M68T	probably benign	Het
Gemin5	G	C	11: 58,032,489 (GRCm39)	P772A	probably benign	Het
Gle1	T	G	2: 29,833,805 (GRCm39)	C401G	probably damaging	Het
Gm7298	A	T	6: 121,738,546 (GRCm39)	I376F	probably damaging	Het
Gpr35	A	C	1: 92,910,353 (GRCm39)	I22L	probably benign	Het
Grin2b	T	G	6: 135,710,474 (GRCm39)	D1024A	possibly damaging	Het
Hmcn1	T	C	1: 150,539,624 (GRCm39)	N2956D	probably damaging	Het
Htt	T	C	5: 35,003,350 (GRCm39)	L1275P	probably damaging	Het
Ibtk	T	C	9: 85,625,744 (GRCm39)	D2G	probably benign	Het
Il16	T	A	7: 83,295,659 (GRCm39)	D1170V	probably damaging	Het
Iqgap3	T	A	3: 88,024,217 (GRCm39)	I1513N	probably damaging	Het
Kiz	T	G	2: 146,792,430 (GRCm39)		probably null	Het
Krt12	A	T	11: 99,306,839 (GRCm39)	*488K	probably null	Het
Lap3	A	T	5: 45,654,290 (GRCm39)	T83S	probably benign	Het
Lars2	T	A	9: 123,261,058 (GRCm39)	S410T	probably damaging	Het
Limch1	A	G	5: 67,175,001 (GRCm39)	T518A	probably benign	Het
Lrrc49	A	T	9: 60,522,439 (GRCm39)	S381T	probably damaging	Het
Lrrk2	A	G	15: 91,618,258 (GRCm39)	D919G	possibly damaging	Het
Mmp1a	A	T	9: 7,475,319 (GRCm39)	S363C	probably damaging	Het
Mrps22	A	C	9: 98,483,524 (GRCm39)		probably null	Het
Mybpc3	T	C	2: 90,964,949 (GRCm39)	I1066T	probably benign	Het
Myo10	A	T	15: 25,724,011 (GRCm39)	N215I	probably damaging	Het
Myocd	A	C	11: 65,109,474 (GRCm39)	L99R	probably damaging	Het
Nadk	T	G	4: 155,673,793 (GRCm39)	I394S	probably damaging	Het
Nadsyn1	T	C	7: 143,364,952 (GRCm39)	N251S	probably damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Ncapd2	G	A	6: 125,153,633 (GRCm39)	P694L	probably benign	Het
Or2ag1	T	A	7: 106,473,075 (GRCm39)	I126F	probably damaging	Het
Or2w3b	A	C	11: 58,623,571 (GRCm39)	L140R	probably damaging	Het
Or4a71	T	C	2: 89,357,901 (GRCm39)	I284M	probably damaging	Het
Or5t16	G	T	2: 86,819,164 (GRCm39)	R119S	probably damaging	Het
Pcdhb13	T	A	18: 37,576,309 (GRCm39)	I229K	probably damaging	Het
Pgbd5	A	T	8: 125,101,056 (GRCm39)	M400K	possibly damaging	Het
Phactr3	A	G	2: 177,944,529 (GRCm39)	N409S	probably damaging	Het
Pik3c2g	C	A	6: 139,606,868 (GRCm39)	P305Q	probably damaging	Het
Pik3r4	G	A	9: 105,527,783 (GRCm39)	V379M	probably damaging	Het
Pira12	A	G	7: 3,900,615 (GRCm39)	V45A	probably damaging	Het
Pkd1l2	A	T	8: 117,802,870 (GRCm39)	C250*	probably null	Het
Pramel14	A	C	4: 143,718,103 (GRCm39)	S447A	probably benign	Het
Rapgef6	A	C	11: 54,548,191 (GRCm39)	T792P	possibly damaging	Het
Rexo5	A	G	7: 119,404,414 (GRCm39)	D170G	probably damaging	Het
Rnf17	G	A	14: 56,749,789 (GRCm39)		probably null	Het
Septin11	A	G	5: 93,304,725 (GRCm39)	I181V	probably benign	Het
Serpina1e	T	G	12: 103,913,277 (GRCm39)	*414C	probably null	Het
Serpine1	C	A	5: 137,099,918 (GRCm39)	Q80H	probably damaging	Het
Sh3bp2	A	G	5: 34,718,975 (GRCm39)	N560S	probably benign	Het
Slc25a25	A	G	2: 32,309,178 (GRCm39)	F221S	probably damaging	Het
Spag17	G	T	3: 99,934,717 (GRCm39)		probably null	Het
Sspn	T	C	6: 145,906,881 (GRCm39)	L104P	probably damaging	Het
St18	A	C	1: 6,903,818 (GRCm39)	E693A	probably damaging	Het
St6galnac3	T	C	3: 153,117,169 (GRCm39)	I185V	possibly damaging	Het
St8sia1	T	C	6: 142,822,395 (GRCm39)	D156G	probably damaging	Het
Syne2	C	A	12: 76,052,152 (GRCm39)	S4092R	probably benign	Het
Tll1	T	A	8: 64,577,979 (GRCm39)	D76V	possibly damaging	Het
Tmco1	C	T	1: 167,136,022 (GRCm39)		probably benign	Het
Tnfaip3	T	A	10: 18,883,029 (GRCm39)	T179S	probably benign	Het
Trav16	T	C	14: 53,981,096 (GRCm39)	I95T	possibly damaging	Het
Trip12	A	T	1: 84,771,435 (GRCm39)	S280T	probably damaging	Het
Unc79	A	G	12: 103,108,885 (GRCm39)	M2166V	probably benign	Het
Vmn2r1	A	G	3: 63,997,362 (GRCm39)	I339M	probably damaging	Het
Vwa5b1	A	G	4: 138,332,742 (GRCm39)		probably null	Het
Washc4	A	T	10: 83,409,638 (GRCm39)		probably null	Het
Wiz	A	G	17: 32,576,602 (GRCm39)	S642P	possibly damaging	Het
Zeb2	T	A	2: 45,000,053 (GRCm39)	K60N	possibly damaging	Het
Zfat	T	A	15: 68,050,631 (GRCm39)	T797S	probably benign	Het
Zfp74	T	C	7: 29,634,590 (GRCm39)	K373E	probably damaging	Het
Zswim5	T	C	4: 116,833,173 (GRCm39)		probably null	Het

Other mutations in Ephb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01671:Ephb1	APN	9	101,873,986 (GRCm39)	missense	probably damaging	1.00
IGL01910:Ephb1	APN	9	101,879,056 (GRCm39)	missense	probably benign	0.00
IGL02006:Ephb1	APN	9	102,071,971 (GRCm39)	critical splice donor site	probably null
IGL02660:Ephb1	APN	9	101,918,291 (GRCm39)	missense	possibly damaging	0.94
IGL02685:Ephb1	APN	9	101,918,302 (GRCm39)	nonsense	probably null
IGL02802:Ephb1	UTSW	9	101,887,218 (GRCm39)	missense	possibly damaging	0.87
R0098:Ephb1	UTSW	9	101,918,339 (GRCm39)	missense	probably damaging	0.98
R0098:Ephb1	UTSW	9	101,918,339 (GRCm39)	missense	probably damaging	0.98
R0180:Ephb1	UTSW	9	101,804,703 (GRCm39)	missense	probably damaging	0.99
R0488:Ephb1	UTSW	9	101,841,207 (GRCm39)	missense	probably damaging	1.00
R0511:Ephb1	UTSW	9	101,873,179 (GRCm39)	splice site	probably benign
R0601:Ephb1	UTSW	9	102,072,329 (GRCm39)	missense	probably damaging	1.00
R1622:Ephb1	UTSW	9	101,878,910 (GRCm39)	missense	probably benign	0.00
R1643:Ephb1	UTSW	9	101,874,024 (GRCm39)	missense	probably damaging	0.99
R1645:Ephb1	UTSW	9	101,804,758 (GRCm39)	missense	probably damaging	1.00
R1914:Ephb1	UTSW	9	101,806,577 (GRCm39)	missense	probably damaging	1.00
R1964:Ephb1	UTSW	9	101,848,322 (GRCm39)	missense	possibly damaging	0.93
R2245:Ephb1	UTSW	9	101,873,973 (GRCm39)	splice site	probably benign
R2247:Ephb1	UTSW	9	101,874,010 (GRCm39)	missense	probably damaging	0.98
R2412:Ephb1	UTSW	9	101,879,015 (GRCm39)	missense	possibly damaging	0.85
R3716:Ephb1	UTSW	9	102,071,999 (GRCm39)	missense	probably damaging	1.00
R3756:Ephb1	UTSW	9	101,918,238 (GRCm39)	missense	probably benign	0.01
R3797:Ephb1	UTSW	9	101,848,466 (GRCm39)	missense	probably damaging	1.00
R3907:Ephb1	UTSW	9	101,878,925 (GRCm39)	missense	probably benign	0.00
R4981:Ephb1	UTSW	9	101,918,159 (GRCm39)	missense	probably benign
R5112:Ephb1	UTSW	9	101,848,378 (GRCm39)	missense	probably damaging	1.00
R5507:Ephb1	UTSW	9	101,813,315 (GRCm39)	missense	probably damaging	1.00
R5745:Ephb1	UTSW	9	102,072,633 (GRCm39)	missense	probably benign	0.25
R6082:Ephb1	UTSW	9	101,848,303 (GRCm39)	missense	probably damaging	1.00
R6183:Ephb1	UTSW	9	102,072,524 (GRCm39)	missense	probably damaging	1.00
R6228:Ephb1	UTSW	9	101,800,783 (GRCm39)	missense	probably damaging	1.00
R6572:Ephb1	UTSW	9	101,944,097 (GRCm39)	missense	probably benign
R6596:Ephb1	UTSW	9	102,072,001 (GRCm39)	nonsense	probably null
R6813:Ephb1	UTSW	9	101,887,247 (GRCm39)	missense	possibly damaging	0.87
R6876:Ephb1	UTSW	9	101,861,319 (GRCm39)	missense	probably damaging	1.00
R6922:Ephb1	UTSW	9	101,806,463 (GRCm39)	splice site	probably null
R6950:Ephb1	UTSW	9	102,072,108 (GRCm39)	missense	probably benign	0.03
R7146:Ephb1	UTSW	9	101,841,157 (GRCm39)	missense	probably damaging	1.00
R7328:Ephb1	UTSW	9	102,072,438 (GRCm39)	missense	probably damaging	1.00
R7644:Ephb1	UTSW	9	101,813,393 (GRCm39)	missense	probably damaging	1.00
R7737:Ephb1	UTSW	9	101,861,302 (GRCm39)	missense	probably damaging	1.00
R8109:Ephb1	UTSW	9	101,918,222 (GRCm39)	missense	probably damaging	1.00
R8161:Ephb1	UTSW	9	102,072,012 (GRCm39)	missense	probably damaging	1.00
R8486:Ephb1	UTSW	9	101,841,164 (GRCm39)	missense	probably benign	0.00
R8958:Ephb1	UTSW	9	102,072,614 (GRCm39)	missense	probably damaging	1.00
R9502:Ephb1	UTSW	9	101,918,486 (GRCm39)	missense	probably damaging	1.00
R9627:Ephb1	UTSW	9	101,918,468 (GRCm39)	missense	possibly damaging	0.94
R9715:Ephb1	UTSW	9	101,848,384 (GRCm39)	missense	probably damaging	1.00
X0064:Ephb1	UTSW	9	101,848,471 (GRCm39)	missense	probably damaging	1.00
Z1088:Ephb1	UTSW	9	101,861,344 (GRCm39)	missense	probably damaging	0.99
Z1176:Ephb1	UTSW	9	102,100,597 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAAGCTCAGCTACAGGTCCC -3'
(R):5'- ATGCTGGGTGCTGACAGAG -3'

Sequencing Primer
(F):5'- CATGCCATGATTTCCCTGAGTAGAC -3'
(R):5'- TGCTGACAGAGGGCTGAC -3'

Posted On

2019-05-15