Incidental Mutation 'R4050:Mad1l1'
ID 314103
Institutional Source Beutler Lab
Gene Symbol Mad1l1
Ensembl Gene ENSMUSG00000029554
Gene Name MAD1 mitotic arrest deficient 1-like 1
Synonyms Mad1
MMRRC Submission 040968-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4050 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 139994444-140307307 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 140118571 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 457 (S457P)
Ref Sequence ENSEMBL: ENSMUSP00000106453 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031534] [ENSMUST00000110829]
AlphaFold Q9WTX8
Predicted Effect probably damaging
Transcript: ENSMUST00000031534
AA Change: S457P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000031534
Gene: ENSMUSG00000029554
AA Change: S457P

DomainStartEndE-ValueType
Pfam:MAD 54 715 1.6e-272 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110829
AA Change: S457P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106453
Gene: ENSMUSG00000029554
AA Change: S457P

DomainStartEndE-ValueType
Pfam:MAD 2 511 2.5e-198 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199237
Meta Mutation Damage Score 0.3433 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 97% (58/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MAD1L1 is a component of the mitotic spindle-assembly checkpoint that prevents the onset of anaphase until all chromosome are properly aligned at the metaphase plate. MAD1L1 functions as a homodimer and interacts with MAD2L1. MAD1L1 may play a role in cell cycle control and tumor suppression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
PHENOTYPE: Mice homozygous for a null allele die in utero. Aging heterozygous null mice show increased tumor incidence while heterozygous MEFs are more prone to aneuploidy, induce fibrosarcomas in athymic nude mice, and show a weaker spindle assembly checkpoint-mediated arrest n response to nocodazole. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik A G 4: 148,029,449 (GRCm39) D473G probably damaging Het
Abca1 T A 4: 53,044,144 (GRCm39) Q1826L probably damaging Het
Apob G A 12: 8,065,390 (GRCm39) V4087I probably benign Het
Atp10b G A 11: 43,150,363 (GRCm39) A1354T probably benign Het
Baz1a A G 12: 54,976,404 (GRCm39) V424A probably benign Het
Cdc20b G A 13: 113,200,819 (GRCm39) D180N probably benign Het
Cep57l1 G T 10: 41,605,356 (GRCm39) R130S probably damaging Het
Ddb1 A G 19: 10,605,171 (GRCm39) D1053G probably benign Het
Ddx39a T A 8: 84,448,863 (GRCm39) M246K probably benign Het
Dip2a G A 10: 76,114,441 (GRCm39) T1013M probably damaging Het
Edar G T 10: 58,445,769 (GRCm39) T265N possibly damaging Het
Fcgbpl1 T C 7: 27,852,410 (GRCm39) V1311A possibly damaging Het
Gbp8 T A 5: 105,179,104 (GRCm39) I132F probably damaging Het
Gga1 A G 15: 78,775,691 (GRCm39) D382G probably benign Het
Ggps1 T C 13: 14,228,284 (GRCm39) K300E probably benign Het
Gm10518 C A 1: 179,631,378 (GRCm39) probably benign Het
Gm8074 G A 9: 78,229,618 (GRCm39) noncoding transcript Het
H2-Eb1 T A 17: 34,533,342 (GRCm39) L188Q probably damaging Het
Heatr6 A G 11: 83,646,599 (GRCm39) S95G probably damaging Het
Hnf1a T A 5: 115,108,633 (GRCm39) N91Y probably damaging Het
Ints10 C T 8: 69,280,003 (GRCm39) S710F probably damaging Het
Kazn C T 4: 141,834,215 (GRCm39) E614K unknown Het
Kif26a T A 12: 112,146,350 (GRCm39) M1812K probably benign Het
Lmo7 A T 14: 102,139,713 (GRCm39) K488* probably null Het
Met A G 6: 17,533,983 (GRCm39) T645A probably benign Het
Mpp4 T C 1: 59,185,903 (GRCm39) probably null Het
Mycl A T 4: 122,890,632 (GRCm39) probably null Het
Ncbp1 G A 4: 46,147,483 (GRCm39) R110H probably damaging Het
Nfasc G T 1: 132,538,043 (GRCm39) probably benign Het
Nup35 A G 2: 80,486,320 (GRCm39) I212V probably benign Het
Or2y8 T G 11: 52,035,961 (GRCm39) Y132S probably damaging Het
Or4p20 A G 2: 88,253,967 (GRCm39) M134T probably damaging Het
Ovgp1 T C 3: 105,893,883 (GRCm39) probably benign Het
Ovgp1 A G 3: 105,893,912 (GRCm39) probably benign Het
Pcgf5 G A 19: 36,420,311 (GRCm39) S181N probably damaging Het
Plk2 C T 13: 110,536,400 (GRCm39) T617I probably damaging Het
Polq A T 16: 36,913,182 (GRCm39) probably null Het
Ppp1r1a A G 15: 103,440,881 (GRCm39) L92P probably damaging Het
Pramel24 T C 4: 143,453,692 (GRCm39) S267P probably benign Het
Prg4 G C 1: 150,330,510 (GRCm39) probably benign Het
Prune1 T C 3: 95,169,542 (GRCm39) K220R possibly damaging Het
Rab3gap2 G A 1: 185,004,840 (GRCm39) probably null Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sall3 G A 18: 81,014,697 (GRCm39) A1005V probably benign Het
Samd15 T G 12: 87,247,406 (GRCm39) N30K probably benign Het
Scn8a A T 15: 100,911,294 (GRCm39) K905* probably null Het
Scrib G A 15: 75,923,322 (GRCm39) R1245W possibly damaging Het
Skint4 C T 4: 111,981,811 (GRCm39) S260L probably benign Het
Slc29a2 A T 19: 5,079,481 (GRCm39) M339L possibly damaging Het
Slx9 T C 10: 77,350,164 (GRCm39) R75G possibly damaging Het
Spire1 G T 18: 67,662,101 (GRCm39) probably null Het
Synpo2 T C 3: 122,907,927 (GRCm39) D463G possibly damaging Het
Taf4 C A 2: 179,573,805 (GRCm39) G688C probably damaging Het
Tasor2 A G 13: 3,623,507 (GRCm39) S2148P probably benign Het
Tpte T A 8: 22,856,000 (GRCm39) V600E probably damaging Het
Ttn A G 2: 76,651,510 (GRCm39) V10953A probably benign Het
Vav2 T C 2: 27,178,691 (GRCm39) Y333C probably benign Het
Vav2 A G 2: 27,181,415 (GRCm39) S311P probably damaging Het
Zbtb26 A C 2: 37,327,000 (GRCm39) M1R probably null Het
Zfp26 G A 9: 20,353,525 (GRCm39) P88L probably benign Het
Zfp324 T C 7: 12,704,794 (GRCm39) F328L probably damaging Het
Other mutations in Mad1l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01570:Mad1l1 APN 5 140,103,032 (GRCm39) missense probably benign 0.00
IGL02098:Mad1l1 APN 5 140,296,344 (GRCm39) splice site probably benign
IGL02100:Mad1l1 APN 5 140,129,689 (GRCm39) missense probably damaging 1.00
IGL03131:Mad1l1 APN 5 140,293,458 (GRCm39) missense probably benign 0.18
R0738:Mad1l1 UTSW 5 140,286,315 (GRCm39) missense probably damaging 1.00
R1902:Mad1l1 UTSW 5 140,289,443 (GRCm39) missense possibly damaging 0.57
R1989:Mad1l1 UTSW 5 140,289,425 (GRCm39) missense probably benign 0.27
R2090:Mad1l1 UTSW 5 139,995,011 (GRCm39) missense probably benign 0.01
R2471:Mad1l1 UTSW 5 140,247,307 (GRCm39) missense probably benign 0.43
R4049:Mad1l1 UTSW 5 140,118,571 (GRCm39) missense probably damaging 1.00
R4096:Mad1l1 UTSW 5 140,293,428 (GRCm39) missense probably benign 0.01
R4682:Mad1l1 UTSW 5 140,286,007 (GRCm39) missense possibly damaging 0.47
R4729:Mad1l1 UTSW 5 140,247,266 (GRCm39) missense possibly damaging 0.76
R4838:Mad1l1 UTSW 5 140,286,017 (GRCm39) nonsense probably null
R5946:Mad1l1 UTSW 5 140,247,334 (GRCm39) missense probably damaging 1.00
R6088:Mad1l1 UTSW 5 140,179,718 (GRCm39) missense probably benign 0.13
R6362:Mad1l1 UTSW 5 140,300,810 (GRCm39) missense possibly damaging 0.71
R6845:Mad1l1 UTSW 5 139,994,924 (GRCm39) missense probably damaging 1.00
R6957:Mad1l1 UTSW 5 140,051,572 (GRCm39) missense probably damaging 0.99
R6983:Mad1l1 UTSW 5 140,179,739 (GRCm39) missense probably damaging 0.99
R7347:Mad1l1 UTSW 5 140,129,799 (GRCm39) missense probably damaging 1.00
R7807:Mad1l1 UTSW 5 140,074,541 (GRCm39) missense probably benign 0.01
R8147:Mad1l1 UTSW 5 140,129,734 (GRCm39) missense probably damaging 1.00
R8165:Mad1l1 UTSW 5 140,300,813 (GRCm39) missense probably benign
R8545:Mad1l1 UTSW 5 140,286,249 (GRCm39) missense probably benign 0.04
R8694:Mad1l1 UTSW 5 140,074,438 (GRCm39) missense probably benign 0.32
R8750:Mad1l1 UTSW 5 140,300,822 (GRCm39) missense probably benign
R8981:Mad1l1 UTSW 5 140,300,813 (GRCm39) missense probably benign
R9095:Mad1l1 UTSW 5 140,288,741 (GRCm39) missense probably damaging 1.00
R9232:Mad1l1 UTSW 5 140,091,296 (GRCm39) missense probably benign 0.02
R9338:Mad1l1 UTSW 5 140,074,561 (GRCm39) missense probably damaging 1.00
U24488:Mad1l1 UTSW 5 140,300,840 (GRCm39) missense probably damaging 1.00
X0026:Mad1l1 UTSW 5 139,994,960 (GRCm39) missense probably damaging 1.00
Z1177:Mad1l1 UTSW 5 140,091,337 (GRCm39) missense probably benign 0.23
Predicted Primers PCR Primer
(F):5'- ACAGGAGCGTATGCCTGAAG -3'
(R):5'- ACTAGGATGCAAGATTCAGCTGG -3'

Sequencing Primer
(F):5'- TGAAGGCCAAGTCCTACTGG -3'
(R):5'- GCCCTAACTTGCCCCAGTG -3'
Posted On 2015-04-30