|Institutional Source||Beutler Lab|
|Gene Name||MAD2L1 binding protein|
|Synonyms||2510031P20Rik, 0610009D16Rik, CMT2A, CMT2B|
|Is this an essential gene?||Probably essential (E-score: 0.919)|
|Stock #||R5176 (G1)|
|Chromosomal Location||46147390-46153553 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 46152812 bp|
|Amino Acid Change||Glutamic Acid to Aspartic acid at position 95 (E95D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000125915 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000171172]|
|Predicted Effect||probably benign
AA Change: E95D
PolyPhen 2 Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: E95D
|Meta Mutation Damage Score||0.0770|
|Coding Region Coverage||
|Validation Efficiency||99% (69/70)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene was identified as a binding protein of the MAD2 mitotic arrest deficient-like 1 (MAD2/MAD2L1). MAD2 is a key component of the spindle checkpoint that delays the onset of anaphase until all the kinetochores are attached to the spindle. This protein may interact with the spindle checkpoint and coordinate cell cycle events in late mitosis. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mad2l1bp||
(F):5'- CAACCGGTAATAGGAAGAGTCTC -3'
(R):5'- TCTTGAGACTGTCATCCCGC -3'
(F):5'- CCCAAGTGCAGAGAAAATGAGGC -3'
(R):5'- GCCAGCCCAGGAACCTTC -3'