Mutagenetix > Incidental Mutation

Incidental Mutation 'R4049:Mad1l1'

314031

Institutional Source

Beutler Lab

Gene Symbol

Mad1l1

Ensembl Gene

ENSMUSG00000029554

Gene Name

MAD1 mitotic arrest deficient 1-like 1

Synonyms

Mad1

MMRRC Submission

041616-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4049 (G1)

Quality Score

209

Status

Validated

Chromosome

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:MAD	2	511	2.5e-198	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199237

Meta Mutation Damage Score

0.3433

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.6%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	A	12: 118,832,404 (GRCm39)	E1190V	probably damaging	Het
Arhgef10	A	G	8: 15,029,998 (GRCm39)	T928A	probably benign	Het
Arhgef10l	T	A	4: 140,242,762 (GRCm39)	I836F	probably benign	Het
Blm	T	A	7: 80,152,610 (GRCm39)	T446S	probably benign	Het
Ccdc63	T	A	5: 122,260,813 (GRCm39)	Q237L	probably damaging	Het
Ccn5	A	G	2: 163,670,904 (GRCm39)	D137G	probably damaging	Het
Cep57l1	G	T	10: 41,605,356 (GRCm39)	R130S	probably damaging	Het
Clstn2	T	G	9: 97,339,613 (GRCm39)	E786A	possibly damaging	Het
Col16a1	C	T	4: 129,962,545 (GRCm39)	P540L	probably damaging	Het
Csf2	A	G	11: 54,140,159 (GRCm39)	F61L	probably damaging	Het
Ctr9	C	T	7: 110,654,750 (GRCm39)	R1094C	unknown	Het
Cyp3a41a	A	G	5: 145,650,350 (GRCm39)	C98R	probably damaging	Het
Dthd1	T	A	5: 62,984,508 (GRCm39)	C404*	probably null	Het
Egfem1	A	C	3: 29,740,880 (GRCm39)	H518P	probably benign	Het
Elf3	T	C	1: 135,182,015 (GRCm39)	S369G	probably benign	Het
Eml6	C	T	11: 29,788,577 (GRCm39)	V503M	probably damaging	Het
Enthd1	T	C	15: 80,444,240 (GRCm39)	D105G	probably damaging	Het
Eral1	A	G	11: 77,966,428 (GRCm39)	L250P	probably damaging	Het
Gdf15	A	T	8: 71,082,605 (GRCm39)	M167K	probably benign	Het
Ggps1	T	C	13: 14,228,284 (GRCm39)	K300E	probably benign	Het
Gm8074	G	A	9: 78,229,618 (GRCm39)		noncoding transcript	Het
Herc3	A	G	6: 58,853,822 (GRCm39)	I623V	probably damaging	Het
Map1lc3a	G	T	2: 155,119,462 (GRCm39)	V91F	possibly damaging	Het
Map4k3	A	G	17: 80,913,394 (GRCm39)	V617A	probably benign	Het
Mov10l1	T	A	15: 88,879,235 (GRCm39)		probably benign	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Ncor1	G	T	11: 62,220,494 (GRCm39)		probably null	Het
Nfe2	C	T	15: 103,159,364 (GRCm39)	E36K	possibly damaging	Het
Oprm1	G	A	10: 6,779,087 (GRCm39)	V95I	probably benign	Het
Or4a78	T	C	2: 89,498,006 (GRCm39)	I75V	probably benign	Het
Or4c107	A	G	2: 88,789,617 (GRCm39)	K269R	probably benign	Het
Or52d3	T	C	7: 104,229,575 (GRCm39)	F241L	probably benign	Het
Or5d46	T	C	2: 88,174,144 (GRCm39)		probably null	Het
Pcdha9	T	A	18: 37,130,995 (GRCm39)	H21Q	probably benign	Het
Pcolce2	A	T	9: 95,520,808 (GRCm39)	I62F	probably damaging	Het
Pfpl	T	A	19: 12,407,053 (GRCm39)	C435S	probably damaging	Het
Pkhd1l1	G	A	15: 44,361,953 (GRCm39)	C542Y	probably damaging	Het
Plekha5	T	C	6: 140,529,597 (GRCm39)	S75P	probably damaging	Het
Pphln1	C	A	15: 93,362,987 (GRCm39)	A202E	probably damaging	Het
Ppp1r1a	A	G	15: 103,440,881 (GRCm39)	L92P	probably damaging	Het
Prokr2	T	C	2: 132,223,414 (GRCm39)	T43A	probably benign	Het
Rai14	T	C	15: 10,592,298 (GRCm39)	N199S	probably benign	Het
Rasgrp2	T	C	19: 6,454,757 (GRCm39)	L199P	probably damaging	Het
Rnf213	A	C	11: 119,373,274 (GRCm39)	M4939L	possibly damaging	Het
Slc23a2	C	T	2: 131,902,603 (GRCm39)	R533Q	probably benign	Het
Slc7a7	T	C	14: 54,610,548 (GRCm39)		probably null	Het
Snrpd2	T	A	7: 18,885,232 (GRCm39)	V31E	probably damaging	Het
Spire1	G	T	18: 67,662,101 (GRCm39)		probably null	Het
Srsf4	T	C	4: 131,627,854 (GRCm39)		probably benign	Het
Tcf20	A	G	15: 82,737,630 (GRCm39)	S1274P	probably damaging	Het
Tcof1	C	A	18: 60,965,975 (GRCm39)	A376S	possibly damaging	Het
Thsd1	T	A	8: 22,733,180 (GRCm39)	Y76N	possibly damaging	Het
Timm44	A	G	8: 4,310,561 (GRCm39)	V397A	probably benign	Het
Tmc6	G	A	11: 117,669,087 (GRCm39)	T89I	possibly damaging	Het
Trbv31	C	A	6: 41,534,639 (GRCm39)	C107F	probably damaging	Het
Trim37	T	A	11: 87,031,429 (GRCm39)		probably null	Het
Ttll5	T	C	12: 86,059,573 (GRCm39)	V1226A	probably benign	Het
Ube3b	T	C	5: 114,550,931 (GRCm39)	V865A	probably benign	Het
Vmn2r86	A	T	10: 130,282,966 (GRCm39)	M550K	probably damaging	Het
Vps54	C	A	11: 21,250,183 (GRCm39)	T373N	probably benign	Het
Wdr64	T	G	1: 175,633,422 (GRCm39)	I891S	probably benign	Het
Zfhx4	C	T	3: 5,463,919 (GRCm39)	S1384L	probably damaging	Het
Zfp703	A	G	8: 27,469,113 (GRCm39)	E259G	possibly damaging	Het
Zfp933	T	C	4: 147,910,969 (GRCm39)	H209R	probably damaging	Het
Zfp980	A	G	4: 145,429,170 (GRCm39)	H633R	probably damaging	Het

Other mutations in Mad1l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- ACAGGAGCGTATGCCTGAAG -3'
(R):5'- AGGATGCAAGATTCAGCTGG -3'

Sequencing Primer
(F):5'- TGAAGGCCAAGTCCTACTGG -3'
(R):5'- GCCCTAACTTGCCCCAGTG -3'

Posted On

2015-04-30