Incidental Mutation 'IGL01658:Mad2l1'
ID 103092
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mad2l1
Ensembl Gene ENSMUSG00000029910
Gene Name MAD2 mitotic arrest deficient-like 1
Synonyms MAD2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01658
Quality Score
Status
Chromosome 6
Chromosomal Location 66512205-66518091 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 66514586 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 85 (V85E)
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: V85E

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000098897
Gene: ENSMUSG00000029910
AA Change: V85E

DomainStartEndE-ValueType
Pfam:HORMA 13 203 1.5e-26 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000116605
AA Change: V85E

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000112304
Gene: ENSMUSG00000029910
AA Change: V85E

DomainStartEndE-ValueType
Pfam:HORMA 12 191 7.2e-48 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125430
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135411
Coding Region Coverage
Validation Efficiency
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Blm A G 7: 80,113,689 (GRCm39) S1203P probably damaging Het
Cdc25a C A 9: 109,705,194 (GRCm39) probably null Het
Cstf1 T A 2: 172,214,993 (GRCm39) I38N probably benign Het
Fam168a C A 7: 100,462,180 (GRCm39) P42T possibly damaging Het
Fstl5 A G 3: 76,389,562 (GRCm39) Q253R possibly damaging Het
Gpr26 C T 7: 131,585,834 (GRCm39) T268I probably benign Het
Herc2 T A 7: 55,809,200 (GRCm39) Y2567N probably damaging Het
Hspg2 C T 4: 137,292,237 (GRCm39) T4035I probably damaging Het
Iqgap3 G A 3: 88,023,278 (GRCm39) R523Q possibly damaging Het
Mical2 T C 7: 111,914,205 (GRCm39) Y292H probably damaging Het
Myom2 T C 8: 15,127,880 (GRCm39) S239P probably damaging Het
Ncoa3 T C 2: 165,893,222 (GRCm39) probably benign Het
Nthl1 A G 17: 24,853,819 (GRCm39) T155A probably benign Het
Or2a14 T A 6: 43,130,784 (GRCm39) S182T probably damaging Het
Plcxd2 T G 16: 45,785,424 (GRCm39) E327A probably benign Het
Prr36 G A 8: 4,265,243 (GRCm39) P169L probably damaging Het
Satb1 C A 17: 52,082,279 (GRCm39) M458I probably benign Het
Smarcal1 T C 1: 72,625,290 (GRCm39) S146P probably benign Het
Taf4b T C 18: 14,977,477 (GRCm39) S750P probably damaging Het
Tha1 A G 11: 117,762,438 (GRCm39) L102P probably damaging Het
Trf A G 9: 103,104,055 (GRCm39) F103L probably benign Het
Trim2 T C 3: 84,117,592 (GRCm39) I8V probably benign Het
Usf1 C T 1: 171,244,867 (GRCm39) S177L possibly damaging Het
Usp12 T C 5: 146,688,739 (GRCm39) D205G probably damaging Het
Vps13b A G 15: 35,671,479 (GRCm39) T1661A probably damaging Het
Other mutations in Mad2l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02546:Mad2l1 APN 6 66,512,951 (GRCm39) missense probably damaging 0.96
R0190:Mad2l1 UTSW 6 66,516,862 (GRCm39) missense possibly damaging 0.92
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
Posted On 2014-01-21