Mutagenetix > Incidental Mutation

Incidental Mutation 'R2090:Mad1l1'

231704

Institutional Source

Beutler Lab

Gene Symbol

Mad1l1

Ensembl Gene

ENSMUSG00000029554

Gene Name

MAD1 mitotic arrest deficient 1-like 1

Synonyms

Mad1

MMRRC Submission

040095-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2090 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

139994444-140307307 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 139995011 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 672 (S672P)

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: S672P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000031534
Gene: ENSMUSG00000029554
AA Change: S672P

Domain	Start	End	E-Value	Type
Pfam:MAD	54	715	1.6e-272	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110829

SMART Domains

Protein: ENSMUSP00000106453
Gene: ENSMUSG00000029554

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199237

Meta Mutation Damage Score

0.1380

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (67/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	A	G	8: 25,391,456 (GRCm39)		probably null	Het
Adcy7	A	T	8: 89,042,485 (GRCm39)	T451S	probably damaging	Het
Adgrg3	A	T	8: 95,766,558 (GRCm39)	T410S	possibly damaging	Het
Alg11	G	T	8: 22,555,646 (GRCm39)	L302F	possibly damaging	Het
Ankrd17	A	G	5: 90,445,905 (GRCm39)	V310A	possibly damaging	Het
Atg16l2	C	T	7: 100,942,575 (GRCm39)		probably null	Het
B3gnt2	A	G	11: 22,786,291 (GRCm39)	V299A	probably benign	Het
Birc6	A	G	17: 74,969,791 (GRCm39)	N4258S	probably benign	Het
C2cd4d	A	G	3: 94,271,321 (GRCm39)	K196E	probably benign	Het
Calhm6	A	G	10: 34,002,358 (GRCm39)	S242P	probably damaging	Het
Cdr2l	A	G	11: 115,281,827 (GRCm39)	K111E	probably damaging	Het
Crtam	T	C	9: 40,895,612 (GRCm39)	Q41R	possibly damaging	Het
Cspp1	A	G	1: 10,160,493 (GRCm39)	K560R	possibly damaging	Het
Dcaf15	A	T	8: 84,824,400 (GRCm39)	Y571*	probably null	Het
Defa39	A	T	8: 22,192,805 (GRCm39)	W64R	possibly damaging	Het
Dpy19l4	T	C	4: 11,304,344 (GRCm39)	Y99C	probably benign	Het
Edem3	C	T	1: 151,680,577 (GRCm39)		probably benign	Het
Enpp6	A	T	8: 47,518,405 (GRCm39)		probably null	Het
Foxf2	T	A	13: 31,810,824 (GRCm39)	D254E	probably benign	Het
Gjb5	T	C	4: 127,249,794 (GRCm39)	N117D	probably benign	Het
Glmn	G	A	5: 107,709,794 (GRCm39)	L337F	probably damaging	Het
Gsdmc2	T	A	15: 63,698,675 (GRCm39)	Y307F	probably benign	Het
Gsdmc3	T	A	15: 63,738,631 (GRCm39)	M144L	probably benign	Het
Ibtk	A	G	9: 85,603,046 (GRCm39)	I653T	probably benign	Het
Il24	T	G	1: 130,812,574 (GRCm39)	D99A	possibly damaging	Het
Intu	A	G	3: 40,637,966 (GRCm39)	Q484R	probably benign	Het
Iqca1l	A	G	5: 24,755,674 (GRCm39)	S283P	probably benign	Het
Lsp1	T	C	7: 142,045,544 (GRCm39)		probably benign	Het
Man2a2	A	T	7: 80,013,858 (GRCm39)		probably benign	Het
Morc3	C	A	16: 93,663,341 (GRCm39)	H515N	probably benign	Het
Nav1	T	C	1: 135,534,903 (GRCm39)		probably benign	Het
Ndor1	A	G	2: 25,139,230 (GRCm39)	L247P	probably damaging	Het
Nfkbiz	A	T	16: 55,636,818 (GRCm39)	F494L	probably benign	Het
Nr1d1	G	A	11: 98,661,436 (GRCm39)	P277S	probably damaging	Het
Nrg2	T	C	18: 36,151,496 (GRCm39)	D682G	probably benign	Het
Nrros	C	T	16: 31,962,975 (GRCm39)	W311*	probably null	Het
Oasl1	G	A	5: 115,073,993 (GRCm39)	D301N	probably damaging	Het
Or10ag56	A	T	2: 87,139,762 (GRCm39)	I230F	probably benign	Het
Or14a258	A	T	7: 86,035,289 (GRCm39)	I193N	probably benign	Het
Or5h26	A	G	16: 58,988,503 (GRCm39)	M1T	probably null	Het
Palmd	A	G	3: 116,721,083 (GRCm39)	S123P	probably damaging	Het
Patj	A	G	4: 98,325,560 (GRCm39)		probably benign	Het
Pcsk4	T	C	10: 80,161,655 (GRCm39)	D162G	probably benign	Het
Plppr5	A	G	3: 117,369,520 (GRCm39)	D59G	possibly damaging	Het
Pmvk	A	C	3: 89,369,189 (GRCm39)	R11S	possibly damaging	Het
Pnliprp1	A	G	19: 58,728,901 (GRCm39)	T363A	probably benign	Het
Poll	A	T	19: 45,547,277 (GRCm39)	I65N	probably benign	Het
Prox1	T	A	1: 189,893,009 (GRCm39)	S479C	probably damaging	Het
Prss50	A	T	9: 110,691,361 (GRCm39)	S222C	probably damaging	Het
Rasa3	A	C	8: 13,632,381 (GRCm39)		probably benign	Het
Sec14l3	T	C	11: 4,025,481 (GRCm39)	V335A	probably benign	Het
Setbp1	C	T	18: 78,899,935 (GRCm39)	S1244N	probably benign	Het
Sgcg	A	T	14: 61,483,213 (GRCm39)	F63I	probably damaging	Het
Skp2	C	A	15: 9,113,786 (GRCm39)	G376C	probably damaging	Het
Slc2a13	T	A	15: 91,400,695 (GRCm39)	I176F	probably benign	Het
Smc6	A	G	12: 11,339,987 (GRCm39)	T432A	probably benign	Het
Snx25	G	A	8: 46,509,150 (GRCm39)	P478L	probably damaging	Het
Taf2	A	T	15: 54,879,882 (GRCm39)	H1151Q	probably damaging	Het
Thsd1	A	G	8: 22,749,673 (GRCm39)	K795R	possibly damaging	Het
Tmem108	G	A	9: 103,361,976 (GRCm39)	L537F	possibly damaging	Het
Ubr3	T	C	2: 69,766,361 (GRCm39)	Y410H	probably damaging	Het
Vav3	T	C	3: 109,555,055 (GRCm39)		probably null	Het
Vmn1r224	T	C	17: 20,639,524 (GRCm39)	Y34H	probably benign	Het
Zeb1	T	C	18: 5,766,458 (GRCm39)	V323A	possibly damaging	Het
Zfp652	A	G	11: 95,644,834 (GRCm39)	D240G	probably benign	Het
Zfp963	A	T	8: 70,195,996 (GRCm39)	C152*	probably null	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
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'- AAGCTGCAGGTACAGGCTAG -3'
(R):5'- GCCTTGAACTTTGCCTCAGTG -3'

Sequencing Primer
(F):5'- CGAGGTCCAGCGGCTGTAG -3'
(R):5'- TCAGTGGGCAGCTCAAGC -3'

Posted On

2014-09-18