Incidental Mutation 'R1902:Mad1l1'
ID 212319
Institutional Source Beutler Lab
Gene Symbol Mad1l1
Ensembl Gene ENSMUSG00000029554
Gene Name MAD1 mitotic arrest deficient 1-like 1
Synonyms Mad1
MMRRC Submission 039922-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1902 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 139994444-140307307 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 140289443 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 161 (S161P)
Ref Sequence ENSEMBL: ENSMUSP00000106453 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031534] [ENSMUST00000110829]
AlphaFold Q9WTX8
Predicted Effect possibly damaging
Transcript: ENSMUST00000031534
AA Change: S161P

PolyPhen 2 Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000031534
Gene: ENSMUSG00000029554
AA Change: S161P

DomainStartEndE-ValueType
Pfam:MAD 54 715 1.6e-272 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000110829
AA Change: S161P

PolyPhen 2 Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000106453
Gene: ENSMUSG00000029554
AA Change: S161P

DomainStartEndE-ValueType
Pfam:MAD 2 511 2.5e-198 PFAM
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.7%
  • 10x: 94.9%
  • 20x: 91.7%
Validation Efficiency
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: 128 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730507C01Rik C T 12: 18,584,004 (GRCm39) Q355* probably null Het
Acacb A T 5: 114,303,795 (GRCm39) R73* probably null Het
Adra1a T C 14: 66,875,684 (GRCm39) S220P probably benign Het
Ano2 A T 6: 125,849,647 (GRCm39) E126D probably damaging Het
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Arhgap45 C A 10: 79,861,300 (GRCm39) Q488K probably damaging Het
Arhgef7 C A 8: 11,858,713 (GRCm39) probably null Het
Atxn7l3b A G 10: 112,764,578 (GRCm39) I17T probably benign Het
Bpifb9a A T 2: 154,103,911 (GRCm39) N118I probably benign Het
Btbd9 A T 17: 30,749,202 (GRCm39) D37E probably damaging Het
C8a T C 4: 104,713,798 (GRCm39) probably null Het
Capn13 G A 17: 73,633,356 (GRCm39) S535F probably damaging Het
Carns1 G T 19: 4,216,337 (GRCm39) P615Q probably damaging Het
Casz1 T C 4: 149,020,652 (GRCm39) I479T possibly damaging Het
Ccdc88a G T 11: 29,411,788 (GRCm39) M532I probably benign Het
Cdc42bpb T G 12: 111,292,450 (GRCm39) S362R probably damaging Het
Ceacam11 A T 7: 17,709,252 (GRCm39) H150L probably benign Het
Cfap44 A C 16: 44,242,737 (GRCm39) T714P probably benign Het
Cnot1 T C 8: 96,469,749 (GRCm39) I1369V possibly damaging Het
Cpeb1 T C 7: 81,021,867 (GRCm39) D92G probably benign Het
Cped1 T A 6: 22,120,980 (GRCm39) probably null Het
Csf1r A G 18: 61,263,213 (GRCm39) T896A probably damaging Het
Csf3r T C 4: 125,936,711 (GRCm39) F658S probably damaging Het
Cts6 A T 13: 61,349,329 (GRCm39) Y126* probably null Het
Cul7 T C 17: 46,966,666 (GRCm39) L365P probably damaging Het
Cxcl5 T C 5: 90,907,644 (GRCm39) V72A probably damaging Het
Cyp4v3 T A 8: 45,759,989 (GRCm39) H521L probably benign Het
Dct T C 14: 118,271,690 (GRCm39) N380S probably benign Het
Dnah1 T C 14: 31,041,716 (GRCm39) D85G probably damaging Het
Dnah7a T C 1: 53,574,637 (GRCm39) D1709G probably damaging Het
Dnai1 A T 4: 41,625,319 (GRCm39) K428* probably null Het
Dsc1 A T 18: 20,229,045 (GRCm39) V415D probably damaging Het
E2f8 T C 7: 48,520,920 (GRCm39) H467R probably benign Het
Eddm3b T A 14: 51,354,321 (GRCm39) I103N probably damaging Het
Gal3st2c T G 1: 93,936,611 (GRCm39) N185K probably damaging Het
Ganc T C 2: 120,276,963 (GRCm39) L675P probably damaging Het
Garin3 A T 11: 46,297,838 (GRCm39) T381S probably benign Het
Gdf9 G A 11: 53,327,780 (GRCm39) M245I probably benign Het
Gm21886 G A 18: 80,132,633 (GRCm39) T175I probably damaging Het
Gria2 A G 3: 80,629,415 (GRCm39) L269P probably damaging Het
Grm8 T C 6: 27,429,481 (GRCm39) Y471C probably damaging Het
Gucy2g T A 19: 55,198,669 (GRCm39) T825S probably benign Het
H2-T13 A T 17: 36,394,845 (GRCm39) M16K probably damaging Het
Iffo2 T C 4: 139,335,012 (GRCm39) S124P probably damaging Het
Igf1r T C 7: 67,850,997 (GRCm39) Y931H possibly damaging Het
Il22ra1 A T 4: 135,478,219 (GRCm39) Q430L probably damaging Het
Il23r A C 6: 67,400,718 (GRCm39) D537E probably benign Het
Ip6k1 G A 9: 107,918,195 (GRCm39) E77K possibly damaging Het
Itgb4 T C 11: 115,871,564 (GRCm39) V179A probably damaging Het
Itpr2 T A 6: 146,131,201 (GRCm39) H1968L probably damaging Het
Kdm4a A G 4: 118,017,596 (GRCm39) V490A probably benign Het
Kif13a A T 13: 46,941,638 (GRCm39) D946E probably benign Het
Klhl22 T A 16: 17,589,651 (GRCm39) I104N probably damaging Het
Klk6 A C 7: 43,475,481 (GRCm39) M1L probably benign Het
Krt78 A T 15: 101,855,398 (GRCm39) C804* probably null Het
Larp7 A T 3: 127,334,227 (GRCm39) N533K probably damaging Het
Lrit3 T C 3: 129,584,895 (GRCm39) T288A probably benign Het
Lrp11 T A 10: 7,499,544 (GRCm39) L245Q probably damaging Het
Lrp1b T C 2: 40,750,673 (GRCm39) S2964G probably damaging Het
Lrrc66 C T 5: 73,764,965 (GRCm39) V693M probably damaging Het
Macf1 T A 4: 123,364,958 (GRCm39) M3268L probably benign Het
Mettl25 A G 10: 105,661,948 (GRCm39) S341P probably damaging Het
Morc3 A G 16: 93,667,385 (GRCm39) T588A probably damaging Het
Mospd3 A G 5: 137,598,677 (GRCm39) S21P probably damaging Het
Mrpl57 T A 14: 58,064,186 (GRCm39) F71L probably damaging Het
Mtbp T C 15: 55,470,111 (GRCm39) L594S probably damaging Het
Mthfd2 T C 6: 83,283,713 (GRCm39) N323S probably damaging Het
Muc5b G T 7: 141,417,842 (GRCm39) S3596I possibly damaging Het
Mug1 A G 6: 121,858,780 (GRCm39) D1166G probably benign Het
Nav1 T G 1: 135,400,148 (GRCm39) N474T probably benign Het
Ncoa1 A T 12: 4,389,049 (GRCm39) D75E possibly damaging Het
Ncor1 A C 11: 62,228,984 (GRCm39) I958S probably damaging Het
Nefm T C 14: 68,361,563 (GRCm39) S234G probably benign Het
Nlrp4c T C 7: 6,068,818 (GRCm39) S240P probably damaging Het
Nox3 C T 17: 3,720,292 (GRCm39) V298M probably damaging Het
Ntn4 A G 10: 93,543,234 (GRCm39) D320G possibly damaging Het
Nudt13 C G 14: 20,360,709 (GRCm39) T174R probably damaging Het
Odr4 T A 1: 150,264,360 (GRCm39) probably null Het
Opn1sw T A 6: 29,379,803 (GRCm39) N144Y possibly damaging Het
Or10al3 T A 17: 38,012,312 (GRCm39) H250Q probably damaging Het
Or10g3 T G 14: 52,610,174 (GRCm39) Q112P possibly damaging Het
Or1l8 T C 2: 36,817,197 (GRCm39) I310V probably benign Het
Or2a52 T A 6: 43,144,657 (GRCm39) probably null Het
Or4a72 A T 2: 89,405,947 (GRCm39) L41Q possibly damaging Het
Or5ac25 A T 16: 59,182,526 (GRCm39) D18E probably benign Het
Or5g25 T C 2: 85,478,201 (GRCm39) S155G possibly damaging Het
Or6c216 G T 10: 129,678,375 (GRCm39) P179T probably benign Het
Or6n2 T C 1: 173,897,692 (GRCm39) V276A probably damaging Het
Or8g4 T C 9: 39,662,102 (GRCm39) V140A probably benign Het
Osbpl5 T C 7: 143,256,918 (GRCm39) D404G possibly damaging Het
Parp14 C T 16: 35,673,888 (GRCm39) probably null Het
Pde3a C A 6: 141,444,496 (GRCm39) N1101K probably benign Het
Plcb1 G A 2: 134,655,533 (GRCm39) V38I possibly damaging Het
Plec T A 15: 76,059,751 (GRCm39) E3417D probably damaging Het
Ppfibp2 C T 7: 107,345,585 (GRCm39) P869L probably damaging Het
Ppp1r12a T A 10: 108,034,752 (GRCm39) I99N probably damaging Het
Pramel5 G A 4: 144,000,433 (GRCm39) Q48* probably null Het
Prr13 C A 15: 102,369,133 (GRCm39) probably benign Het
Psg22 T A 7: 18,458,363 (GRCm39) Y312* probably null Het
Ptchd4 A T 17: 42,814,507 (GRCm39) I803L probably benign Het
Rasa4 A G 5: 136,120,092 (GRCm39) D56G probably benign Het
Rif1 T A 2: 52,006,685 (GRCm39) N2206K possibly damaging Het
Robo1 A G 16: 72,757,092 (GRCm39) Q351R probably null Het
Samd4 T C 14: 47,311,585 (GRCm39) F81S probably damaging Het
Sh3pxd2b T C 11: 32,373,559 (GRCm39) *909Q probably null Het
Slc25a45 A G 19: 5,934,550 (GRCm39) R173G probably damaging Het
Smarca1 G A X: 46,938,840 (GRCm39) Q723* probably null Het
Smoc1 T C 12: 81,151,445 (GRCm39) I54T probably benign Het
Spef2 G T 15: 9,607,463 (GRCm39) R1319S probably damaging Het
Steap3 T G 1: 120,169,464 (GRCm39) I240L probably benign Het
Stmn4 C T 14: 66,593,058 (GRCm39) L13F probably damaging Het
Stxbp5 C A 10: 9,688,042 (GRCm39) V420F possibly damaging Het
Syt3 T C 7: 44,039,940 (GRCm39) S58P possibly damaging Het
Tas2r125 T C 6: 132,887,139 (GRCm39) F176L probably benign Het
Tbc1d19 T A 5: 53,986,695 (GRCm39) C35S probably benign Het
Tcaf3 T C 6: 42,570,486 (GRCm39) E422G possibly damaging Het
Tekt4 T A 17: 25,690,832 (GRCm39) F46Y possibly damaging Het
Tnfaip3 T C 10: 18,883,937 (GRCm39) K148E probably benign Het
Trrap T G 5: 144,752,863 (GRCm39) I1813R probably damaging Het
Ttc29 A G 8: 78,978,361 (GRCm39) E137G probably benign Het
Tubgcp6 C A 15: 89,000,444 (GRCm39) R307L possibly damaging Het
Tyro3 T C 2: 119,632,176 (GRCm39) I81T possibly damaging Het
Upp2 T G 2: 58,661,464 (GRCm39) M71R probably damaging Het
Utp20 G T 10: 88,588,888 (GRCm39) T2427K probably benign Het
Vcl T A 14: 21,032,767 (GRCm39) L122Q probably damaging Het
Vmn1r213 A C 13: 23,196,476 (GRCm39) N353T possibly damaging Het
Vwa5b2 G T 16: 20,423,582 (GRCm39) S1165I possibly damaging Het
Zfp869 T C 8: 70,160,088 (GRCm39) K162E probably benign 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
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
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'- GAGGCTGTCACCGTCTTATTCTG -3'
(R):5'- TACTCGCCACATGCTTCGAG -3'

Sequencing Primer
(F):5'- TTCCCAAGTCCAGAGGCCTC -3'
(R):5'- CCACATGCTTCGAGGACAG -3'
Posted On 2014-06-30