Incidental Mutation 'R8165:Mad1l1'
ID 633714
Institutional Source Beutler Lab
Gene Symbol Mad1l1
Ensembl Gene ENSMUSG00000029554
Gene Name MAD1 mitotic arrest deficient 1-like 1
Synonyms Mad1
MMRRC Submission 067591-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8165 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 139994444-140307307 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 140300813 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 28 (T28A)
Ref Sequence ENSEMBL: ENSMUSP00000031534 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031534] [ENSMUST00000110829]
AlphaFold Q9WTX8
Predicted Effect probably benign
Transcript: ENSMUST00000031534
AA Change: T28A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000031534
Gene: ENSMUSG00000029554
AA Change: T28A

DomainStartEndE-ValueType
Pfam:MAD 54 715 1.6e-272 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110829
AA Change: T28A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106453
Gene: ENSMUSG00000029554
AA Change: T28A

DomainStartEndE-ValueType
Pfam:MAD 2 511 2.5e-198 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (65/65)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik C A 5: 64,055,289 (GRCm39) probably null Het
Amph A G 13: 19,279,007 (GRCm39) K161E probably benign Het
Aox1 A T 1: 58,348,088 (GRCm39) H602L probably benign Het
Areg A G 5: 91,291,492 (GRCm39) N145S probably damaging Het
Arhgap29 C T 3: 121,782,222 (GRCm39) T142I probably damaging Het
Bcar3 C T 3: 122,304,805 (GRCm39) probably benign Het
Brpf3 C T 17: 29,025,248 (GRCm39) A107V probably benign Het
Btnl2 T A 17: 34,587,682 (GRCm39) S509T possibly damaging Het
Cacna2d2 A G 9: 107,402,653 (GRCm39) probably null Het
Casz1 C T 4: 149,028,888 (GRCm39) P1111L probably damaging Het
Ccdc91 C T 6: 147,533,086 (GRCm39) T411I unknown Het
Chd9 A C 8: 91,767,769 (GRCm39) E2422A probably damaging Het
Clrn3 T C 7: 135,130,133 (GRCm39) I34V probably benign Het
Cnksr3 C T 10: 7,104,467 (GRCm39) D79N probably damaging Het
Cops8 A G 1: 90,539,729 (GRCm39) probably null Het
Cpa2 A G 6: 30,564,345 (GRCm39) K392R probably benign Het
Dnajc28 G A 16: 91,413,795 (GRCm39) R150* probably null Het
Dnase1l3 T C 14: 7,994,299 (GRCm38) probably benign Het
Gdpd5 A T 7: 99,105,689 (GRCm39) T502S probably benign Het
Gp2 A T 7: 119,049,375 (GRCm39) D387E probably damaging Het
Gpr179 A G 11: 97,242,364 (GRCm39) L160P probably benign Het
Hmcn1 G A 1: 150,522,409 (GRCm39) T3497M probably benign Het
Idh3b T A 2: 130,122,420 (GRCm39) T322S possibly damaging Het
Kit A T 5: 75,781,540 (GRCm39) N323I possibly damaging Het
Kng2 T C 16: 22,806,246 (GRCm39) S445G unknown Het
Lin54 A G 5: 100,602,358 (GRCm39) V393A probably benign Het
Lyst T A 13: 13,872,945 (GRCm39) W2715R probably damaging Het
Med7 T A 11: 46,332,073 (GRCm39) C223S probably benign Het
Megf8 T A 7: 25,053,298 (GRCm39) L1823Q probably damaging Het
Mga C A 2: 119,777,719 (GRCm39) Q1755K probably benign Het
Mgat4b A T 11: 50,101,801 (GRCm39) N22I probably benign Het
Ndufb6 C T 4: 40,270,665 (GRCm39) probably null Het
Neil3 A G 8: 54,042,129 (GRCm39) L490P probably benign Het
Nek9 C T 12: 85,350,417 (GRCm39) V886I probably benign Het
Nol4l A T 2: 153,262,473 (GRCm39) Y366* probably null Het
Nt5dc2 A G 14: 30,860,886 (GRCm39) T354A probably damaging Het
Or1j11 T A 2: 36,311,715 (GRCm39) Y102N probably damaging Het
Pde2a G A 7: 101,149,655 (GRCm39) probably null Het
Phf1 T C 17: 27,156,044 (GRCm39) F444L possibly damaging Het
Plin4 G A 17: 56,414,019 (GRCm39) T202I possibly damaging Het
Plk4 G C 3: 40,768,009 (GRCm39) V851L probably damaging Het
Pp2d1 A G 17: 53,822,257 (GRCm39) S270P probably damaging Het
Ripor1 C A 8: 106,347,520 (GRCm39) L1028M unknown Het
Scn9a A G 2: 66,370,874 (GRCm39) F569L probably damaging Het
Sel1l2 T A 2: 140,104,626 (GRCm39) L306F probably damaging Het
Spic A T 10: 88,513,428 (GRCm39) S86T probably damaging Het
Spmip10 T A 18: 56,722,547 (GRCm39) probably benign Het
Stkld1 A G 2: 26,836,668 (GRCm39) N278S probably benign Het
Taar7d T A 10: 23,903,495 (GRCm39) F126I probably benign Het
Tbc1d31 A G 15: 57,824,345 (GRCm39) E869G possibly damaging Het
Tbcd C T 11: 121,384,711 (GRCm39) T315M probably benign Het
Terf2 T C 8: 107,809,656 (GRCm39) K221E possibly damaging Het
Thsd7a T A 6: 12,468,962 (GRCm39) T539S Het
Tll2 A G 19: 41,077,313 (GRCm39) F818L possibly damaging Het
Tmem87a T C 2: 120,200,959 (GRCm39) T427A possibly damaging Het
Ush2a C A 1: 188,183,952 (GRCm39) Q1419K possibly damaging Het
Vill T A 9: 118,895,821 (GRCm39) F511Y probably damaging Het
Virma T A 4: 11,542,128 (GRCm39) D1521E probably benign Het
Vps13c A G 9: 67,766,072 (GRCm39) D63G probably benign Het
Vrk2 A G 11: 26,485,575 (GRCm39) F138L probably benign Het
Zfp710 T C 7: 79,735,775 (GRCm39) I514T probably damaging Het
Zgrf1 T A 3: 127,357,032 (GRCm39) F753I possibly 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
R4050: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
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'- TATCCCTAGGAACACTACCAGG -3'
(R):5'- ACTCCATAAGGGTGTTAGTGGG -3'

Sequencing Primer
(F):5'- TCACAGTAACCGTCTGCCCG -3'
(R):5'- ATAAGGGTGTTAGTGGGTGGGC -3'
Posted On 2020-07-13