Incidental Mutation 'R5176:Mad2l1bp'
ID 399342
Institutional Source Beutler Lab
Gene Symbol Mad2l1bp
Ensembl Gene ENSMUSG00000034509
Gene Name MAD2L1 binding protein
Synonyms 2510031P20Rik, 0610009D16Rik, CMT2A, CMT2B
MMRRC Submission 042756-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.907) question?
Stock # R5176 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 46147390-46153553 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 46152812 bp (GRCm38)
Zygosity Heterozygous
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]
AlphaFold Q9DCX1
Predicted Effect probably benign
Transcript: ENSMUST00000171172
AA Change: E95D

PolyPhen 2 Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000125915
Gene: ENSMUSG00000034509
AA Change: E95D

DomainStartEndE-ValueType
Pfam:p31comet 13 276 6.4e-166 PFAM
Meta Mutation Damage Score 0.0770 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
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
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530032D15Rik C T 1: 85,088,800 probably benign Het
Abca7 C A 10: 79,998,289 H116Q probably benign Het
Akap12 G T 10: 4,353,947 E252D probably benign Het
Apobr A G 7: 126,585,016 D2G probably damaging Het
Arhgef12 A T 9: 43,020,686 H168Q probably damaging Het
Asb3 T A 11: 31,081,357 probably null Het
Brip1 T C 11: 86,077,884 Y825C probably damaging Het
Cacna1b A T 2: 24,635,131 Y1679N probably damaging Het
Ccdc69 C T 11: 55,060,470 A42T probably benign Het
Cds1 G T 5: 101,781,420 D55Y possibly damaging Het
Cep135 C A 5: 76,637,026 D989E probably benign Het
Cpsf6 C A 10: 117,361,284 probably benign Het
Ctif C T 18: 75,637,219 V32M probably damaging Het
Cylc2 T C 4: 51,228,587 probably benign Het
Dao T C 5: 114,020,009 probably null Het
Dopey1 T A 9: 86,521,815 N1689K probably damaging Het
Dopey2 A G 16: 93,740,043 Y14C probably damaging Het
E130309D02Rik G T 5: 143,315,075 S7* probably null Het
Fam160b1 A G 19: 57,371,181 N51S probably damaging Het
Fam187a C T 11: 102,886,464 R365C probably damaging Het
Fastkd2 A G 1: 63,731,439 probably benign Het
Fkbp15 G T 4: 62,312,323 L718I possibly damaging Het
Gabbr2 C A 4: 46,681,208 V118F probably damaging Het
Gm11492 T A 11: 87,567,532 M244K probably benign Het
Gm13991 T A 2: 116,528,027 noncoding transcript Het
H2-M9 T C 17: 36,641,631 I174M probably damaging Het
Insr T A 8: 3,158,742 M1240L probably benign Het
Itgb4 C T 11: 115,984,157 R447W probably benign Het
March9 T C 10: 127,059,450 D102G probably benign Het
Muc19 A G 15: 91,892,180 noncoding transcript Het
Nr1h4 T A 10: 89,498,255 Y91F probably benign Het
Nr5a2 A T 1: 136,948,802 M1K probably null Het
Olfr561 T A 7: 102,775,306 S261T probably damaging Het
Olfr836 A T 9: 19,121,360 Y132F probably damaging Het
Olfr998 A C 2: 85,591,435 K298N possibly damaging Het
Oprd1 T C 4: 132,113,793 T285A probably benign Het
Optc T C 1: 133,902,084 N196S probably benign Het
Panx2 G T 15: 89,060,228 R52L probably damaging Het
Pdzd8 A G 19: 59,344,957 F211L probably damaging Het
Pot1b T A 17: 55,699,995 T41S probably benign Het
Prss56 T C 1: 87,184,158 L37S probably damaging Het
Ptk2b T C 14: 66,156,415 T870A probably damaging Het
Rabep2 C A 7: 126,434,293 probably benign Het
Rbm48 A C 5: 3,595,444 V80G probably damaging Het
Rhou G T 8: 123,654,109 C55F possibly damaging Het
Rnaseh2c A G 19: 5,602,042 D45G probably benign Het
Rusc1 A G 3: 89,089,082 S109P probably damaging Het
Ryr3 T C 2: 112,757,667 D2643G possibly damaging Het
Sik2 T C 9: 50,899,403 E471G probably benign Het
Sipa1 A G 19: 5,659,378 S310P probably damaging Het
Spen T C 4: 141,476,276 E1680G unknown Het
Steap3 C T 1: 120,243,767 probably null Het
Tmeff2 T A 1: 51,071,541 C171* probably null Het
Tmem138 A T 19: 10,575,270 M33K probably benign Het
Trappc11 C A 8: 47,510,963 V601L possibly damaging Het
Ttc30a2 T C 2: 75,977,077 M364V probably benign Het
Ttll4 C A 1: 74,679,286 H99N probably damaging Het
Uchl4 A T 9: 64,235,740 K168* probably null Het
Wdr17 C T 8: 54,653,878 probably null Het
Xpo1 A G 11: 23,295,977 D1029G probably damaging Het
Zfp719 G T 7: 43,591,125 K712N probably damaging Het
Other mutations in Mad2l1bp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02016:Mad2l1bp APN 17 46153502 utr 5 prime probably benign
R1694:Mad2l1bp UTSW 17 46152844 missense possibly damaging 0.50
R1770:Mad2l1bp UTSW 17 46152912 missense probably benign 0.19
R4242:Mad2l1bp UTSW 17 46152987 missense possibly damaging 0.87
R4801:Mad2l1bp UTSW 17 46148263 missense possibly damaging 0.89
R4802:Mad2l1bp UTSW 17 46148263 missense possibly damaging 0.89
R4997:Mad2l1bp UTSW 17 46152878 nonsense probably null
R6570:Mad2l1bp UTSW 17 46153007 missense probably benign 0.01
R7544:Mad2l1bp UTSW 17 46152844 missense possibly damaging 0.50
R7827:Mad2l1bp UTSW 17 46148067 missense possibly damaging 0.79
R8950:Mad2l1bp UTSW 17 46147965 missense possibly damaging 0.59
R9114:Mad2l1bp UTSW 17 46148032 missense probably damaging 0.97
R9116:Mad2l1bp UTSW 17 46148032 missense probably damaging 0.97
Z1177:Mad2l1bp UTSW 17 46147941 missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- CAACCGGTAATAGGAAGAGTCTC -3'
(R):5'- TCTTGAGACTGTCATCCCGC -3'

Sequencing Primer
(F):5'- CCCAAGTGCAGAGAAAATGAGGC -3'
(R):5'- GCCAGCCCAGGAACCTTC -3'
Posted On 2016-07-06