Incidental Mutation 'IGL02546:Mad2l1'
ID297821
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mad2l1
Ensembl Gene ENSMUSG00000029910
Gene NameMAD2 mitotic arrest deficient-like 1
SynonymsMAD2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02546
Quality Score
Status
Chromosome6
Chromosomal Location66535390-66547220 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 66535967 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 28 (I28T)
Ref Sequence ENSEMBL: ENSMUSP00000112304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101343] [ENSMUST00000116605]
Predicted Effect probably damaging
Transcript: ENSMUST00000101343
AA Change: I28T

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000098897
Gene: ENSMUSG00000029910
AA Change: I28T

DomainStartEndE-ValueType
Pfam:HORMA 13 203 1.5e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000116605
AA Change: I28T

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000112304
Gene: ENSMUSG00000029910
AA Change: I28T

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930444G20Rik A T 10: 22,066,927 W385R probably damaging Het
A730017C20Rik T A 18: 59,072,275 M45K probably damaging Het
Akap6 G T 12: 52,880,738 V144L probably damaging Het
Carmil1 A T 13: 24,115,499 N347K probably damaging Het
Cyp4a32 A G 4: 115,611,323 Y334C probably damaging Het
Dmxl2 C A 9: 54,366,414 probably benign Het
Eps8 C T 6: 137,479,066 A806T probably benign Het
Evl A G 12: 108,648,419 N24S possibly damaging Het
Fbxo15 T C 18: 84,962,722 probably null Het
Gm14179 A T 11: 99,743,193 Het
Hepacam2 A G 6: 3,483,568 V147A possibly damaging Het
Jmjd1c C A 10: 67,225,336 P1156Q possibly damaging Het
Mab21l3 A T 3: 101,823,308 V205E probably damaging Het
Mroh9 T A 1: 163,080,576 I2F probably benign Het
Msr1 A T 8: 39,615,747 I302K probably benign Het
Msrb3 C T 10: 120,850,001 V80I possibly damaging Het
Ncf4 A G 15: 78,261,019 D269G probably damaging Het
Nsl1 T A 1: 191,071,201 H156Q probably benign Het
Nutm1 T C 2: 112,248,324 D1082G probably benign Het
Olfr812 T A 10: 129,842,547 D165V probably damaging Het
Olfr835 T A 9: 19,035,354 V77D possibly damaging Het
Orc4 T C 2: 48,917,284 I212V probably null Het
Pde6c A G 19: 38,140,040 I184V probably benign Het
Pfkfb3 A T 2: 11,488,778 F129Y probably damaging Het
Ppp3cb T C 14: 20,501,554 D493G probably benign Het
Psg29 A G 7: 17,208,782 Y236C probably damaging Het
Pzp C T 6: 128,494,699 probably benign Het
Sgf29 T A 7: 126,671,853 V180E probably damaging Het
Sh3bp4 A G 1: 89,143,544 probably benign Het
Slc39a2 A T 14: 51,895,163 T188S probably benign Het
Slc6a13 G T 6: 121,333,364 M327I probably benign Het
Slitrk6 T A 14: 110,749,794 H827L probably benign Het
Thumpd2 T G 17: 81,054,455 K114T probably benign Het
Tnfrsf19 A T 14: 60,973,538 C234S possibly damaging Het
Tns2 A G 15: 102,110,940 D446G probably damaging Het
Tpm4 A G 8: 72,144,703 E137G probably damaging Het
Ttn G A 2: 76,795,557 R13307C probably damaging Het
Ubqln3 A G 7: 104,142,518 S122P probably benign Het
Ubr5 T C 15: 38,008,747 D1080G probably benign Het
Ulk4 A T 9: 121,152,307 L886* probably null Het
Unc80 T C 1: 66,554,953 S1164P possibly damaging Het
Uspl1 T C 5: 149,204,304 V371A possibly damaging Het
Virma T C 4: 11,494,804 V35A probably damaging Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Zfp787 A T 7: 6,132,298 I318N probably damaging Het
Other mutations in Mad2l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01658:Mad2l1 APN 6 66537602 missense possibly damaging 0.93
R0190:Mad2l1 UTSW 6 66539878 missense possibly damaging 0.92
R1436:Mad2l1 UTSW 6 66539813 missense possibly damaging 0.57
R1498:Mad2l1 UTSW 6 66539842 nonsense probably null
R1753:Mad2l1 UTSW 6 66539813 missense possibly damaging 0.57
R5308:Mad2l1 UTSW 6 66537691 critical splice donor site probably null
R6195:Mad2l1 UTSW 6 66537628 missense possibly damaging 0.95
R7327:Mad2l1 UTSW 6 66539810 missense probably benign
R7784:Mad2l1 UTSW 6 66535413 utr 5 prime probably null
Posted On2015-04-16