Incidental Mutation 'R6570:Mad2l1bp'
ID 526220
Institutional Source Beutler Lab
Gene Symbol Mad2l1bp
Ensembl Gene ENSMUSG00000034509
Gene Name MAD2L1 binding protein
Synonyms 0610009D16Rik, CMT2A, 2510031P20Rik, CMT2B
MMRRC Submission 044694-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.910) question?
Stock # R6570 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 46458311-46464477 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 46463933 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 30 (H30Q)
Ref Sequence ENSEMBL: ENSMUSP00000125915 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000171172]
AlphaFold Q9DCX1
Predicted Effect probably benign
Transcript: ENSMUST00000171172
AA Change: H30Q

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000125915
Gene: ENSMUSG00000034509
AA Change: H30Q

DomainStartEndE-ValueType
Pfam:p31comet 13 276 6.4e-166 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency
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
Total: 14 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cdh15 T C 8: 123,584,130 (GRCm39) V77A probably damaging Het
Cfap54 C T 10: 92,651,820 (GRCm39) V3077I unknown Het
Erbb2 T C 11: 98,313,873 (GRCm39) L272P possibly damaging Het
Exd1 T C 2: 119,350,654 (GRCm39) T536A probably benign Het
Hoxc9 A T 15: 102,890,185 (GRCm39) H34L probably benign Het
Kif19a G T 11: 114,675,731 (GRCm39) R401L possibly damaging Het
Mettl13 A G 1: 162,371,855 (GRCm39) L26P probably damaging Het
Mmp16 G A 4: 18,011,501 (GRCm39) V110I possibly damaging Het
Or2m13 T C 16: 19,226,068 (GRCm39) S233G probably benign Het
Plcb4 C T 2: 135,824,906 (GRCm39) A863V probably benign Het
Rnf168 G A 16: 32,108,028 (GRCm39) S219N probably benign Het
Serpine3 T A 14: 62,911,770 (GRCm39) L244Q probably damaging Het
Vmn1r75 T C 7: 11,614,883 (GRCm39) V205A probably damaging Het
Zscan4d A G 7: 10,895,927 (GRCm39) V481A possibly damaging Het
Other mutations in Mad2l1bp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02016:Mad2l1bp APN 17 46,464,428 (GRCm39) utr 5 prime probably benign
R1694:Mad2l1bp UTSW 17 46,463,770 (GRCm39) missense possibly damaging 0.50
R1770:Mad2l1bp UTSW 17 46,463,838 (GRCm39) missense probably benign 0.19
R4242:Mad2l1bp UTSW 17 46,463,913 (GRCm39) missense possibly damaging 0.87
R4801:Mad2l1bp UTSW 17 46,459,189 (GRCm39) missense possibly damaging 0.89
R4802:Mad2l1bp UTSW 17 46,459,189 (GRCm39) missense possibly damaging 0.89
R4997:Mad2l1bp UTSW 17 46,463,804 (GRCm39) nonsense probably null
R5176:Mad2l1bp UTSW 17 46,463,738 (GRCm39) missense probably benign 0.39
R7544:Mad2l1bp UTSW 17 46,463,770 (GRCm39) missense possibly damaging 0.50
R7827:Mad2l1bp UTSW 17 46,458,993 (GRCm39) missense possibly damaging 0.79
R8950:Mad2l1bp UTSW 17 46,458,891 (GRCm39) missense possibly damaging 0.59
R9114:Mad2l1bp UTSW 17 46,458,958 (GRCm39) missense probably damaging 0.97
R9116:Mad2l1bp UTSW 17 46,458,958 (GRCm39) missense probably damaging 0.97
Z1177:Mad2l1bp UTSW 17 46,458,867 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- GAACTTTCCGGTAGAAGTGCTTC -3'
(R):5'- ATGTCACTTAAATCGTCCCCGG -3'

Sequencing Primer
(F):5'- CTTCAGCTGTTCATAGGGCAGAG -3'
(R):5'- CCGGCCAGTATCAGGTTTC -3'
Posted On 2018-06-22