|Institutional Source||Beutler Lab|
|Gene Name||Eph receptor B1|
|Synonyms||Cek6, Net, C130099E04Rik, Hek6, Elk, Elkh|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7737 (G1)|
|Chromosomal Location||101922128-102354693 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 101984103 bp|
|Amino Acid Change||Isoleucine to Phenylalanine at position 621 (I621F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000035129 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000035129] [ENSMUST00000085169]|
|Predicted Effect||probably damaging
AA Change: I621F
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: I621F
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||98% (63/64)|
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||
|Other mutations in Ephb1||
(F):5'- GTAAGCGTATCCACTGTGACC -3'
(R):5'- GTCCCTCCCAGAAATATCCTTGG -3'
(F):5'- GTATCCACTGTGACCAAGGTC -3'
(R):5'- CCCAGAAATATCCTTGGTGCTGG -3'