Incidental Mutation 'R7327:Mad2l1'
ID 568983
Institutional Source Beutler Lab
Gene Symbol Mad2l1
Ensembl Gene ENSMUSG00000029910
Gene Name MAD2 mitotic arrest deficient-like 1
Synonyms MAD2
MMRRC Submission 045420-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7327 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 66512205-66518091 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 66516794 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 162 (V162E)
Ref Sequence ENSEMBL: ENSMUSP00000098897 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101343] [ENSMUST00000116605]
AlphaFold Q9Z1B5
Predicted Effect probably benign
Transcript: ENSMUST00000101343
AA Change: V162E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000098897
Gene: ENSMUSG00000029910
AA Change: V162E

DomainStartEndE-ValueType
Pfam:HORMA 13 203 1.5e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000116605
AA Change: V162E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112304
Gene: ENSMUSG00000029910
AA Change: V162E

DomainStartEndE-ValueType
Pfam:HORMA 12 191 7.2e-48 PFAM
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (63/63)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 C T 16: 20,367,430 (GRCm39) T3I probably benign Het
Ahi1 T A 10: 20,862,976 (GRCm39) V717E probably damaging Het
Anapc4 A G 5: 53,002,672 (GRCm39) T238A probably damaging Het
Arhgap27 A T 11: 103,251,367 (GRCm39) C120* probably null Het
Bdp1 A T 13: 100,178,040 (GRCm39) V1943D probably damaging Het
Cdc14b A G 13: 64,373,461 (GRCm39) V141A probably damaging Het
Cfap46 G T 7: 139,215,062 (GRCm39) probably null Het
Cgnl1 C A 9: 71,633,165 (GRCm39) R62L possibly damaging Het
Chaf1a A G 17: 56,369,573 (GRCm39) S522G probably benign Het
Cox19 A G 5: 139,328,402 (GRCm39) F37S probably damaging Het
Csmd1 G A 8: 16,108,721 (GRCm39) S1894L probably damaging Het
Cyp4a12a A T 4: 115,184,756 (GRCm39) R346W probably damaging Het
Dip2a A C 10: 76,108,396 (GRCm39) C1315G probably benign Het
Dmxl2 A C 9: 54,308,869 (GRCm39) W1961G probably damaging Het
Dst T C 1: 34,240,486 (GRCm39) L1945P probably damaging Het
Efr3a A G 15: 65,691,627 (GRCm39) S92G probably damaging Het
Ep300 C T 15: 81,511,515 (GRCm39) T865I unknown Het
Ercc6 A G 14: 32,248,361 (GRCm39) E304G probably benign Het
Filip1l A C 16: 57,391,300 (GRCm39) E629D probably damaging Het
Frem1 G A 4: 82,938,992 (GRCm39) T30I possibly damaging Het
Glb1 T C 9: 114,246,126 (GRCm39) F59S probably benign Het
Gli3 T C 13: 15,900,144 (GRCm39) L1177P probably benign Het
Gpatch2l A G 12: 86,303,646 (GRCm39) T223A probably damaging Het
Gpt2 G A 8: 86,244,681 (GRCm39) E325K probably benign Het
Hmcn1 A T 1: 150,479,565 (GRCm39) M4633K probably benign Het
Hoxc8 T A 15: 102,899,542 (GRCm39) Y111N probably damaging Het
Ifi207 A G 1: 173,556,581 (GRCm39) L726P probably benign Het
Iqcn T A 8: 71,169,453 (GRCm39) M1181K possibly damaging Het
Iqgap2 T A 13: 95,772,163 (GRCm39) M1339L probably benign Het
Kif21b A G 1: 136,087,387 (GRCm39) Q901R possibly damaging Het
Krtap4-8 C A 11: 99,671,234 (GRCm39) C79F unknown Het
Ldb3 T C 14: 34,293,759 (GRCm39) N155S probably damaging Het
Map7 T A 10: 20,109,208 (GRCm39) V87E unknown Het
Mndal A T 1: 173,703,185 (GRCm39) D73E unknown Het
Msantd1 T C 5: 35,075,039 (GRCm39) S34P probably damaging Het
Myh14 T C 7: 44,260,977 (GRCm39) Q1838R possibly damaging Het
Myh15 G T 16: 48,993,369 (GRCm39) R1668L possibly damaging Het
Ncoa7 A G 10: 30,565,796 (GRCm39) M666T probably damaging Het
Nol6 A T 4: 41,116,686 (GRCm39) L944Q probably benign Het
Or5h27 A T 16: 59,006,376 (GRCm39) F157I unknown Het
Orc1 A G 4: 108,445,911 (GRCm39) T10A probably benign Het
Pcp4l1 G A 1: 171,002,034 (GRCm39) A42V possibly damaging Het
Pglyrp2 C T 17: 32,634,893 (GRCm39) A490T probably benign Het
Pirb A T 7: 3,720,187 (GRCm39) C395* probably null Het
Ppp1r11 T C 17: 37,261,900 (GRCm39) R12G possibly damaging Het
Prlr A G 15: 10,346,524 (GRCm39) D290G probably benign Het
Ptpn21 G T 12: 98,646,360 (GRCm39) R1033S probably damaging Het
Rad54l2 A G 9: 106,570,660 (GRCm39) L1220P possibly damaging Het
Rufy3 G A 5: 88,790,811 (GRCm39) R504H probably damaging Het
Scgb2b21 C T 7: 33,219,330 (GRCm39) V25I probably benign Het
Sh3bgrl2 T C 9: 83,430,542 (GRCm39) S11P possibly damaging Het
Slain2 A T 5: 73,132,002 (GRCm39) T498S probably benign Het
Slc12a4 C T 8: 106,682,347 (GRCm39) G121S probably damaging Het
Slc30a9 A T 5: 67,499,462 (GRCm39) I307F probably damaging Het
Snap91 C T 9: 86,655,598 (GRCm39) G800R unknown Het
Tnc G T 4: 63,882,999 (GRCm39) probably null Het
Trav21-dv12 T C 14: 54,113,514 (GRCm39) probably benign Het
Txk A T 5: 72,873,226 (GRCm39) I228N probably damaging Het
Vac14 T C 8: 111,438,252 (GRCm39) Y622H probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Wdr35 T G 12: 9,037,312 (GRCm39) M306R probably benign Het
Zan A T 5: 137,463,494 (GRCm39) S562T 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
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
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'- GAAGTATAATGCTCCGTTCTACACC -3'
(R):5'- AATTTCTGGAAAAGCACACTTGGG -3'

Sequencing Primer
(F):5'- GTTCTACACCCAGTTTCTATCAAG -3'
(R):5'- GCACACTTGGGAATGACAATTC -3'
Posted On 2019-09-13