Incidental Mutation 'R0190:Mad2l1'
ID 23164
Institutional Source Beutler Lab
Gene Symbol Mad2l1
Ensembl Gene ENSMUSG00000029910
Gene Name MAD2 mitotic arrest deficient-like 1
Synonyms MAD2
MMRRC Submission 038451-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0190 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 6
Chromosomal Location 66512205-66518091 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 66516862 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 185 (S185P)
Ref Sequence ENSEMBL: ENSMUSP00000112304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101343] [ENSMUST00000116605]
AlphaFold Q9Z1B5
Predicted Effect possibly damaging
Transcript: ENSMUST00000101343
AA Change: S185P

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000098897
Gene: ENSMUSG00000029910
AA Change: S185P

DomainStartEndE-ValueType
Pfam:HORMA 13 203 1.5e-26 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000116605
AA Change: S185P

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000112304
Gene: ENSMUSG00000029910
AA Change: S185P

DomainStartEndE-ValueType
Pfam:HORMA 12 191 7.2e-48 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125430
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135411
Meta Mutation Damage Score 0.9018 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.6%
  • 10x: 91.6%
  • 20x: 72.5%
Validation Efficiency 75% (45/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MAD2L1 is a component of the mitotic spindle assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. MAD2L1 is related to the MAD2L2 gene located on chromosome 1. A MAD2 pseudogene has been mapped to chromosome 14. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null embryos die at E6.5-7.5. At E5.5, embryonic cells assemble spindles and undergo mitosis but do not arrest in response to microtubule depolymerization. At E6.5, loss of a functional spindle assembly ckeckpoint results in widespread chromosome missegregation and apoptosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl1 T C 8: 46,966,429 (GRCm39) probably null Het
Aff2 CA CAAA X: 68,892,711 (GRCm39) probably null Het
Ankrd34a A G 3: 96,505,105 (GRCm39) D103G probably damaging Het
Atp1b2 T C 11: 69,492,388 (GRCm39) D224G probably damaging Het
Atxn10 A G 15: 85,220,730 (GRCm39) D22G possibly damaging Het
Btbd9 C T 17: 30,493,916 (GRCm39) D492N possibly damaging Het
Caskin1 C T 17: 24,723,596 (GRCm39) L795F possibly damaging Het
Cdk12 T C 11: 98,132,657 (GRCm39) probably null Het
Crtc2 A G 3: 90,166,716 (GRCm39) H91R probably damaging Het
Dbt A G 3: 116,332,736 (GRCm39) probably null Het
Dda1 C A 8: 71,924,877 (GRCm39) Y41* probably null Het
Dnah2 T A 11: 69,326,075 (GRCm39) D3692V probably damaging Het
Dpep1 A G 8: 123,927,447 (GRCm39) T334A probably benign Het
Enthd1 C T 15: 80,418,695 (GRCm39) probably null Het
Fpr-rs6 T A 17: 20,402,741 (GRCm39) I207F probably benign Het
Fsip2 T A 2: 82,815,521 (GRCm39) S3751R possibly damaging Het
Gigyf2 A T 1: 87,356,410 (GRCm39) probably benign Het
Gtf3c4 C A 2: 28,730,140 (GRCm39) D34Y probably benign Het
Iftap G A 2: 101,416,775 (GRCm39) S58L probably benign Het
Igfn1 A T 1: 135,889,790 (GRCm39) V2419E probably damaging Het
Kank1 A T 19: 25,386,647 (GRCm39) I79L probably benign Het
Kif21b A G 1: 136,098,957 (GRCm39) H1415R probably benign Het
Mettl18 A G 1: 163,823,991 (GRCm39) E104G probably damaging Het
Mrgprb2 G A 7: 48,202,525 (GRCm39) H67Y possibly damaging Het
Mrgprd G A 7: 144,875,439 (GRCm39) M103I probably benign Het
Nanos3 C T 8: 84,902,763 (GRCm39) R133Q probably damaging Het
Npc1 G A 18: 12,324,887 (GRCm39) T1202I probably damaging Het
Nucks1 A G 1: 131,852,329 (GRCm39) D60G probably damaging Het
Or10g7 A G 9: 39,905,840 (GRCm39) I245V probably benign Het
Or13f5 G C 4: 52,825,613 (GRCm39) W72S probably damaging Het
Or4a72 T A 2: 89,405,302 (GRCm39) Y256F probably damaging Het
Paqr8 A G 1: 21,005,271 (GRCm39) T142A probably benign Het
Pdss1 T C 2: 22,796,843 (GRCm39) S119P probably damaging Het
Plcl2 A G 17: 50,914,671 (GRCm39) D560G probably benign Het
Ppm1b T A 17: 85,301,531 (GRCm39) V137E probably damaging Het
Ppp1r16b A C 2: 158,537,983 (GRCm39) K35Q probably damaging Het
Prkd2 A T 7: 16,603,815 (GRCm39) E832V probably damaging Het
Rab34 G T 11: 78,082,232 (GRCm39) K191N possibly damaging Het
Rad51ap2 A C 12: 11,508,540 (GRCm39) T821P probably benign Het
Rbm19 A G 5: 120,282,111 (GRCm39) T823A probably benign Het
Rpf2 T G 10: 40,103,597 (GRCm39) H106P probably damaging Het
Schip1 A G 3: 68,533,177 (GRCm39) M453V probably benign Het
Sema5a T A 15: 32,562,920 (GRCm39) N310K possibly damaging Het
Sf3b1 T C 1: 55,029,465 (GRCm39) D1179G probably damaging Het
Skint2 A T 4: 112,473,729 (GRCm39) T4S possibly damaging Het
Slc22a5 A T 11: 53,760,241 (GRCm39) Y358* probably null Het
Slc34a1 T C 13: 55,556,914 (GRCm39) M251T probably benign Het
Slc44a5 A G 3: 153,944,755 (GRCm39) D124G probably null Het
Slc9b1 G A 3: 135,063,434 (GRCm39) E73K unknown Het
Ssbp2 T C 13: 91,817,829 (GRCm39) L156P probably damaging Het
Taar2 G A 10: 23,817,393 (GRCm39) R311H probably benign Het
Trim47 A G 11: 115,997,053 (GRCm39) V568A probably damaging Het
Ttn A T 2: 76,718,324 (GRCm39) probably benign Het
Ttpa A T 4: 20,021,260 (GRCm39) I74F probably damaging Het
Vmn2r52 T C 7: 9,905,315 (GRCm39) I175V probably benign Het
Wrn C T 8: 33,731,011 (GRCm39) C1350Y probably benign Het
Zfp11 C T 5: 129,735,302 (GRCm39) G53E possibly damaging Het
Zfp422 A T 6: 116,603,572 (GRCm39) D142E probably damaging Het
Zfp473 A T 7: 44,382,612 (GRCm39) C574S probably damaging Het
Zfp638 T A 6: 83,905,946 (GRCm39) M37K probably damaging Het
Zfp976 C A 7: 42,291,948 (GRCm39) probably benign Het
Other mutations in Mad2l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01658:Mad2l1 APN 6 66,514,586 (GRCm39) missense possibly damaging 0.93
IGL02546:Mad2l1 APN 6 66,512,951 (GRCm39) missense probably damaging 0.96
R1436:Mad2l1 UTSW 6 66,516,797 (GRCm39) missense possibly damaging 0.57
R1498:Mad2l1 UTSW 6 66,516,826 (GRCm39) nonsense probably null
R1753:Mad2l1 UTSW 6 66,516,797 (GRCm39) missense possibly damaging 0.57
R5308:Mad2l1 UTSW 6 66,514,675 (GRCm39) critical splice donor site probably null
R6195:Mad2l1 UTSW 6 66,514,612 (GRCm39) missense possibly damaging 0.95
R7327:Mad2l1 UTSW 6 66,516,794 (GRCm39) missense probably benign
R7784:Mad2l1 UTSW 6 66,512,397 (GRCm39) splice site probably null
R8756:Mad2l1 UTSW 6 66,512,569 (GRCm39) missense probably damaging 0.99
R9700:Mad2l1 UTSW 6 66,512,955 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGCAGGGAGGAGACTTCACTATTG -3'
(R):5'- CGGATTGGCAACATTCCTGACTGAC -3'

Sequencing Primer
(F):5'- GGAGACTTCACTATTGAACAGC -3'
(R):5'- CCTGGTCCAGTTACAATGTTAAGG -3'
Posted On 2013-04-16