Mutagenetix > Incidental Mutation

Incidental Mutation 'R1964:Ephb1'

217117

Institutional Source

Beutler Lab

Gene Symbol

Ephb1

Ensembl Gene

ENSMUSG00000032537

Gene Name

Eph receptor B1

Synonyms

Net, C130099E04Rik, Cek6, Hek6, Elkh, Elk

MMRRC Submission

039977-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1964 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101799327-102231892 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 101848322 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 659 (M659L)

Ref Sequence

ENSEMBL: ENSMUSP00000082261 (fasta)

Gene Model

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

AlphaFold

Q8CBF3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035129
AA Change: M700L

PolyPhen 2 Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000035129
Gene: ENSMUSG00000032537
AA Change: M700L

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

possibly damaging
Transcript: ENSMUST00000085169
AA Change: M659L

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000082261
Gene: ENSMUSG00000032537
AA Change: M659L

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: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

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
1700010I14Rik	C	T	17: 9,211,324 (GRCm39)	H158Y	probably damaging	Het
1810009J06Rik	T	A	6: 40,945,141 (GRCm39)	C207S	probably damaging	Het
Aadac	T	A	3: 59,944,759 (GRCm39)		probably null	Het
Abca6	T	A	11: 110,075,502 (GRCm39)	I1330F	probably damaging	Het
Adar	A	T	3: 89,653,202 (GRCm39)	S263C	probably benign	Het
Adra2b	T	C	2: 127,205,734 (GRCm39)	Y84H	probably damaging	Het
Arnt2	A	T	7: 83,992,997 (GRCm39)	V181E	possibly damaging	Het
Atg7	T	C	6: 114,683,191 (GRCm39)	L418P	probably damaging	Het
Atp2c1	A	G	9: 105,323,322 (GRCm39)	L181P	probably damaging	Het
Awat2	G	A	X: 99,448,165 (GRCm39)	P148S	probably damaging	Het
Birc6	A	G	17: 74,941,880 (GRCm39)	M2737V	possibly damaging	Het
Ccdc81	A	G	7: 89,535,361 (GRCm39)	C292R	probably benign	Het
Cd14	T	A	18: 36,859,392 (GRCm39)	E21V	probably damaging	Het
Cdc14b	A	C	13: 64,363,351 (GRCm39)	C303W	probably damaging	Het
Cdh23	T	C	10: 60,221,001 (GRCm39)	I1248V	probably benign	Het
Ceacam1	T	C	7: 25,174,133 (GRCm39)	D174G	probably benign	Het
Cgas	T	G	9: 78,344,737 (GRCm39)	Y228S	probably damaging	Het
Chd7	A	G	4: 8,865,978 (GRCm39)	M717V	probably damaging	Het
Cib1	T	C	7: 79,882,120 (GRCm39)	T20A	possibly damaging	Het
Clec4d	A	G	6: 123,239,319 (GRCm39)	K9R	probably benign	Het
Cntnap1	C	A	11: 101,068,850 (GRCm39)	S131*	probably null	Het
Crybg1	T	C	10: 43,834,326 (GRCm39)	K1581R	probably damaging	Het
Csf2	T	G	11: 54,139,284 (GRCm39)	T100P	probably benign	Het
Csrp2	T	A	10: 110,767,894 (GRCm39)	D26E	probably benign	Het
Cul1	T	C	6: 47,479,505 (GRCm39)	V257A	probably damaging	Het
Cul4a	G	A	8: 13,186,406 (GRCm39)	M505I	possibly damaging	Het
Cul4a	T	C	8: 13,186,854 (GRCm39)	M530T	probably benign	Het
Dcp2	T	C	18: 44,529,038 (GRCm39)	M51T	possibly damaging	Het
Ddx60	T	A	8: 62,401,903 (GRCm39)	C260S	probably benign	Het
Dennd2c	G	A	3: 103,073,807 (GRCm39)	R851H	probably damaging	Het
Dnah11	T	C	12: 118,106,027 (GRCm39)	E625G	possibly damaging	Het
Edem1	T	C	6: 108,821,908 (GRCm39)	W322R	probably benign	Het
Egflam	T	C	15: 7,276,586 (GRCm39)	T527A	probably damaging	Het
Fbxl2	A	G	9: 113,818,237 (GRCm39)	I203T	probably benign	Het
Gabbr1	G	A	17: 37,359,351 (GRCm39)	G109R	probably damaging	Het
Gabra2	T	C	5: 71,171,793 (GRCm39)	I148V	possibly damaging	Het
Golga1	A	G	2: 38,937,099 (GRCm39)	V161A	probably benign	Het
Gps2	T	G	11: 69,807,246 (GRCm39)	S301A	probably benign	Het
H2-D1	T	C	17: 35,482,595 (GRCm39)	L105P	probably benign	Het
Igdcc4	T	C	9: 65,030,051 (GRCm39)	V367A	probably benign	Het
Igkv4-69	T	G	6: 69,260,782 (GRCm39)	Y115S	probably benign	Het
Itga5	A	G	15: 103,262,741 (GRCm39)	L309P	probably damaging	Het
Itih1	A	G	14: 30,651,580 (GRCm39)	Y871H	probably damaging	Het
Itpr2	T	A	6: 146,013,191 (GRCm39)	N2662I	probably damaging	Het
Kctd19	T	A	8: 106,115,102 (GRCm39)	E486D	probably damaging	Het
Kif5b	C	T	18: 6,209,059 (GRCm39)	R901Q	possibly damaging	Het
Kmt2a	G	A	9: 44,731,941 (GRCm39)	S2792F	probably benign	Het
Magi3	A	G	3: 103,927,718 (GRCm39)	V1023A	probably damaging	Het
Mapk9	C	A	11: 49,745,160 (GRCm39)	R25S	probably null	Het
Memo1	T	C	17: 74,552,003 (GRCm39)	T98A	possibly damaging	Het
Mill2	A	G	7: 18,590,529 (GRCm39)	K203R	probably damaging	Het
Mios	T	A	6: 8,215,798 (GRCm39)	H331Q	probably damaging	Het
Muc6	G	T	7: 141,226,329 (GRCm39)	S1566*	probably null	Het
Muc6	A	G	7: 141,226,330 (GRCm39)		probably benign	Het
Napsa	T	C	7: 44,231,109 (GRCm39)	F113L	probably benign	Het
Or5ac16	T	A	16: 59,022,271 (GRCm39)	I173F	possibly damaging	Het
Or9m1	A	G	2: 87,734,011 (GRCm39)	V3A	probably benign	Het
Oscp1	T	G	4: 125,977,415 (GRCm39)	V226G	possibly damaging	Het
Osgin2	G	T	4: 15,998,358 (GRCm39)	S421R	probably damaging	Het
Pclaf	A	G	9: 65,800,677 (GRCm39)	N50D	probably damaging	Het
Pdgfc	A	T	3: 81,082,292 (GRCm39)	I162F	probably benign	Het
Plag1	T	C	4: 3,903,956 (GRCm39)	T412A	probably benign	Het
Pogz	A	T	3: 94,785,504 (GRCm39)	T820S	probably benign	Het
Ptpn9	T	A	9: 56,967,196 (GRCm39)	V473D	probably damaging	Het
Qdpr	A	T	5: 45,596,660 (GRCm39)	M66K	possibly damaging	Het
Qrich1	A	G	9: 108,411,621 (GRCm39)	N382S	possibly damaging	Het
Rbbp8	T	C	18: 11,875,736 (GRCm39)	V883A	possibly damaging	Het
Rgl1	T	A	1: 152,424,855 (GRCm39)	I375F	probably damaging	Het
Rif1	C	T	2: 51,988,421 (GRCm39)	T720I	probably benign	Het
Rilp	A	T	11: 75,401,328 (GRCm39)	Q95L	probably benign	Het
Rnf169	T	A	7: 99,574,732 (GRCm39)	N621I	probably damaging	Het
Rps27a	T	C	11: 29,497,229 (GRCm39)	K27R	probably null	Het
Sar1a	T	C	10: 61,520,947 (GRCm39)	V54A	probably benign	Het
Sash1	T	A	10: 8,605,477 (GRCm39)	H971L	probably benign	Het
Sdk2	G	A	11: 113,671,843 (GRCm39)	Q2102*	probably null	Het
Serpina1e	T	A	12: 103,917,466 (GRCm39)	I68F	probably damaging	Het
Serpinb9e	A	C	13: 33,437,474 (GRCm39)	Q119P	probably benign	Het
Sh3tc2	A	T	18: 62,124,226 (GRCm39)	K965*	probably null	Het
Slc16a1	A	T	3: 104,556,782 (GRCm39)	S56C	probably damaging	Het
Slc26a11	T	A	11: 119,271,020 (GRCm39)	L563Q	possibly damaging	Het
Smarca2	G	T	19: 26,650,124 (GRCm39)	E24*	probably null	Het
Smgc	G	A	15: 91,744,468 (GRCm39)	G239D	probably damaging	Het
Sos2	A	T	12: 69,663,636 (GRCm39)	M616K	possibly damaging	Het
Tet1	T	A	10: 62,648,726 (GRCm39)	D1902V	possibly damaging	Het
Thap2	C	T	10: 115,220,152 (GRCm39)	C10Y	probably damaging	Het
Tln2	T	C	9: 67,249,417 (GRCm39)	D890G	probably benign	Het
Tor2a	G	A	2: 32,648,716 (GRCm39)	G62D	probably damaging	Het
Ubqln5	A	T	7: 103,778,095 (GRCm39)	V243E	possibly damaging	Het
Utrn	A	T	10: 12,560,181 (GRCm39)	D1369E	probably damaging	Het
Vcan	A	G	13: 89,840,861 (GRCm39)	V1561A	probably benign	Het
Vmn1r70	T	C	7: 10,367,737 (GRCm39)	F56S	possibly damaging	Het
Vmn2r25	A	G	6: 123,800,254 (GRCm39)	L696S	possibly damaging	Het
Washc2	A	G	6: 116,185,948 (GRCm39)	T53A	probably damaging	Het
Wnk1	T	A	6: 119,911,343 (GRCm39)	T2417S	possibly damaging	Het
Zbtb49	A	T	5: 38,361,105 (GRCm39)	C12*	probably null	Het
Zfp472	C	A	17: 33,196,848 (GRCm39)	P308T	possibly damaging	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
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
R7144:Ephb1	UTSW	9	101,841,276 (GRCm39)	missense	probably damaging	1.00
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'- CCTCTGCTAACCTTGCCAAG -3'
(R):5'- CTTGCCATTTCAGGGGAGTTC -3'

Sequencing Primer
(F):5'- TTGCCAAGGTTAAAGCCTGC -3'
(R):5'- TACAAGGGCCGTTTGAAGCTG -3'

Posted On

2014-08-01