Mutagenetix > Incidental Mutation

Incidental Mutation 'R6088:Mad1l1'

486091

Institutional Source

Beutler Lab

Gene Symbol

Mad1l1

Ensembl Gene

ENSMUSG00000029554

Gene Name

MAD1 mitotic arrest deficient 1-like 1

Synonyms

Mad1

MMRRC Submission

044245-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6088 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

139994444-140307307 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 140179718 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 390 (H390L)

Ref Sequence

ENSEMBL: ENSMUSP00000106453 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031534] [ENSMUST00000110829]

AlphaFold

Q9WTX8

Predicted Effect

probably benign
Transcript: ENSMUST00000031534
AA Change: H390L

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000031534
Gene: ENSMUSG00000029554
AA Change: H390L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000110829
AA Change: H390L

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000106453
Gene: ENSMUSG00000029554
AA Change: H390L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132832

Meta Mutation Damage Score

0.1036

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.7%
20x: 92.9%

Validation Efficiency

98% (59/60)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	G	T	18: 59,035,174 (GRCm39)	V360F	probably damaging	Het
Ankrd17	C	T	5: 90,401,547 (GRCm39)	E1605K	possibly damaging	Het
Arid4a	A	G	12: 71,069,010 (GRCm39)	D54G	probably damaging	Het
Baz2a	TCTCCTC	TCTC	10: 127,950,511 (GRCm39)		probably benign	Het
Bltp3a	G	A	17: 28,103,579 (GRCm39)		probably null	Het
Card6	A	T	15: 5,134,501 (GRCm39)	V234E	possibly damaging	Het
Cd1d1	G	T	3: 86,906,009 (GRCm39)	Q89K	probably benign	Het
Ciita	G	A	16: 10,329,795 (GRCm39)	R693K	probably damaging	Het
Cox7a2l	G	T	17: 83,811,401 (GRCm39)	L77I	probably benign	Het
Crybg2	A	T	4: 133,803,101 (GRCm39)		probably null	Het
Cts8	T	C	13: 61,401,780 (GRCm39)	N39S	probably benign	Het
Def8	G	T	8: 124,186,787 (GRCm39)	E456*	probably null	Het
Dld	A	G	12: 31,390,988 (GRCm39)	F153L	probably benign	Het
Elf1	C	T	14: 79,804,701 (GRCm39)	T122I	probably benign	Het
Emilin2	T	C	17: 71,562,119 (GRCm39)	N961S	probably benign	Het
Esp24	A	G	17: 39,350,901 (GRCm39)	I34V	probably benign	Het
Fam184b	C	A	5: 45,741,354 (GRCm39)	K292N	probably damaging	Het
Gabrg3	T	A	7: 56,634,826 (GRCm39)	N119I	probably damaging	Het
Gucy1b1	T	C	3: 81,942,187 (GRCm39)	H524R	probably damaging	Het
Kcp	A	T	6: 29,502,631 (GRCm39)	S205T	probably benign	Het
Klb	C	T	5: 65,506,356 (GRCm39)	T201M	probably benign	Het
Lamp3	A	T	16: 19,492,148 (GRCm39)	F365L	probably damaging	Het
Mlxipl	T	C	5: 135,162,884 (GRCm39)	Y711H	possibly damaging	Het
Myo5b	T	A	18: 74,853,969 (GRCm39)	L1196Q	possibly damaging	Het
Ndufb8	A	G	19: 44,543,464 (GRCm39)	S70P	probably benign	Het
Neb	T	C	2: 52,099,354 (GRCm39)	D4832G	probably damaging	Het
Niban2	T	C	2: 32,813,135 (GRCm39)	V540A	probably damaging	Het
Nr5a1	T	C	2: 38,592,007 (GRCm39)	D322G	probably benign	Het
Or1e1d-ps1	A	T	11: 73,819,649 (GRCm39)	T273S	probably benign	Het
Or5ak20	T	A	2: 85,183,698 (GRCm39)	S191C	probably damaging	Het
Oscar	G	A	7: 3,614,311 (GRCm39)	P143S	probably benign	Het
Oxa1l	T	A	14: 54,605,151 (GRCm39)		probably null	Het
Pafah2	A	G	4: 134,140,692 (GRCm39)	I221V	probably benign	Het
Pibf1	T	A	14: 99,416,794 (GRCm39)	F456I	probably benign	Het
Pla2g4d	C	T	2: 120,100,487 (GRCm39)	G615D	probably damaging	Het
Plekhg2	C	T	7: 28,060,438 (GRCm39)	V964I	probably benign	Het
Ppip5k1	C	A	2: 121,167,944 (GRCm39)	V770L	probably benign	Het
Ppl	A	T	16: 4,922,852 (GRCm39)	L213Q	possibly damaging	Het
Ptprf	G	A	4: 118,067,952 (GRCm39)	T1785I	possibly damaging	Het
Pycr2	G	A	1: 180,733,801 (GRCm39)	G131E	probably damaging	Het
Rbpj	C	T	5: 53,808,710 (GRCm39)		probably null	Het
Rcc1	G	T	4: 132,060,153 (GRCm39)	D430E	probably benign	Het
Rhbdf1	A	G	11: 32,162,007 (GRCm39)	V525A	possibly damaging	Het
Samd7	G	A	3: 30,810,632 (GRCm39)	M216I	probably benign	Het
Ska3	A	T	14: 58,054,151 (GRCm39)	D266E	probably benign	Het
Slc1a7	G	A	4: 107,869,641 (GRCm39)	V569M	probably damaging	Het
Slc26a1	C	T	5: 108,821,872 (GRCm39)	E6K	possibly damaging	Het
Slc4a4	T	A	5: 89,345,563 (GRCm39)	V741E	probably benign	Het
St6galnac3	C	T	3: 152,912,352 (GRCm39)	G164S	probably damaging	Het
Tgs1	T	A	4: 3,595,383 (GRCm39)	N517K	probably benign	Het
Tns4	A	G	11: 98,964,546 (GRCm39)	S522P	probably damaging	Het
Trpm1	A	T	7: 63,917,724 (GRCm39)	M355L	probably damaging	Het
Trpm8	G	A	1: 88,234,400 (GRCm39)		probably benign	Het
V1ra8	T	C	6: 90,180,082 (GRCm39)	F95S	probably damaging	Het
Zfp521	A	C	18: 13,979,166 (GRCm39)	S416A	possibly damaging	Het
Zfp574	T	A	7: 24,779,764 (GRCm39)	V262E	probably benign	Het
Zfp740	T	A	15: 102,117,243 (GRCm39)	I77N	probably damaging	Het
Zscan18	A	T	7: 12,509,125 (GRCm39)		probably benign	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
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
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'- CGTAAAGCTATGGACCACAGG -3'
(R):5'- GCACGTGCAGCTCTATTTTAG -3'

Sequencing Primer
(F):5'- GCTATGGACCACAGGCAAGC -3'
(R):5'- CACGTGCAGCTCTATTTTAGGATGC -3'

Posted On

2017-08-16