Mutagenetix > Incidental Mutations

Incidental Mutation 'R8165:Mad1l1'

633714

Institutional Source

Beutler Lab

Gene Symbol

Mad1l1

Ensembl Gene

ENSMUSG00000029554

Gene Name

MAD1 mitotic arrest deficient 1-like 1

Synonyms

Mad1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8165 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140008689-140321552 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 140315058 bp

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]

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	C	A	5: 63,897,946		probably null	Het
1110037F02Rik	T	A	4: 11,542,128	D1521E	probably benign	Het
Amph	A	G	13: 19,094,837	K161E	probably benign	Het
Aox2	A	T	1: 58,308,929	H602L	probably benign	Het
Areg	A	G	5: 91,143,633	N145S	probably damaging	Het
Arhgap29	C	T	3: 121,988,573	T142I	probably damaging	Het
Bcar3	C	T	3: 122,511,156		probably benign	Het
Brpf3	C	T	17: 28,806,274	A107V	probably benign	Het
Btnl2	T	A	17: 34,368,708	S509T	possibly damaging	Het
Cacna2d2	A	G	9: 107,525,454		probably null	Het
Casz1	C	T	4: 148,944,431	P1111L	probably damaging	Het
Ccdc91	C	T	6: 147,631,588	T411I	unknown	Het
Chd9	A	C	8: 91,041,141	E2422A	probably damaging	Het
Clrn3	T	C	7: 135,528,404	I34V	probably benign	Het
Cnksr3	C	T	10: 7,154,467	D79N	probably damaging	Het
Cops8	A	G	1: 90,612,007		probably null	Het
Cpa2	A	G	6: 30,564,346	K392R	probably benign	Het
Dnajc28	G	A	16: 91,616,907	R150*	probably null	Het
Dnase1l3	T	C	14: 7,994,299		probably benign	Het
Fam65a	C	A	8: 105,620,888	L1028M	unknown	Het
Gdpd5	A	T	7: 99,456,482	T502S	probably benign	Het
Gp2	A	T	7: 119,450,152	D387E	probably damaging	Het
Gpr179	A	G	11: 97,351,538	L160P	probably benign	Het
Hmcn1	G	A	1: 150,646,658	T3497M	probably benign	Het
Idh3b	T	A	2: 130,280,500	T322S	possibly damaging	Het
Kit	A	T	5: 75,620,880	N323I	possibly damaging	Het
Kng2	T	C	16: 22,987,496	S445G	unknown	Het
Lin54	A	G	5: 100,454,499	V393A	probably benign	Het
Lyst	T	A	13: 13,698,360	W2715R	probably damaging	Het
Med7	T	A	11: 46,441,246	C223S	probably benign	Het
Megf8	T	A	7: 25,353,873	L1823Q	probably damaging	Het
Mga	C	A	2: 119,947,238	Q1755K	probably benign	Het
Mgat4b	A	T	11: 50,210,974	N22I	probably benign	Het
Ndufb6	C	T	4: 40,270,665		probably null	Het
Neil3	A	G	8: 53,589,094	L490P	probably benign	Het
Nek9	C	T	12: 85,303,643	V886I	probably benign	Het
Nol4l	A	T	2: 153,420,553	Y366*	probably null	Het
Nt5dc2	A	G	14: 31,138,929	T354A	probably damaging	Het
Olfr339	T	A	2: 36,421,703	Y102N	probably damaging	Het
Pde2a	G	A	7: 101,500,448		probably null	Het
Phf1	T	C	17: 26,937,070	F444L	possibly damaging	Het
Plin4	G	A	17: 56,107,019	T202I	possibly damaging	Het
Plk4	G	C	3: 40,813,574	V851L	probably damaging	Het
Pp2d1	A	G	17: 53,515,229	S270P	probably damaging	Het
Scn9a	A	G	2: 66,540,530	F569L	probably damaging	Het
Sel1l2	T	A	2: 140,262,706	L306F	probably damaging	Het
Spic	A	T	10: 88,677,566	S86T	probably damaging	Het
Stkld1	A	G	2: 26,946,656	N278S	probably benign	Het
Taar7d	T	A	10: 24,027,597	F126I	probably benign	Het
Tbc1d31	A	G	15: 57,960,949	E869G	possibly damaging	Het
Tbcd	C	T	11: 121,493,885	T315M	probably benign	Het
Terf2	T	C	8: 107,083,024	K221E	possibly damaging	Het
Tex43	T	A	18: 56,589,475		probably benign	Het
Thsd7a	T	A	6: 12,468,963	T539S		Het
Tll2	A	G	19: 41,088,874	F818L	possibly damaging	Het
Tmem87a	T	C	2: 120,370,478	T427A	possibly damaging	Het
Ush2a	C	A	1: 188,451,755	Q1419K	possibly damaging	Het
Vill	T	A	9: 119,066,753	F511Y	probably damaging	Het
Vps13c	A	G	9: 67,858,790	D63G	probably benign	Het
Vrk2	A	G	11: 26,535,575	F138L	probably benign	Het
Zfp710	T	C	7: 80,086,027	I514T	probably damaging	Het
Zgrf1	T	A	3: 127,563,383	F753I	possibly damaging	Het

Other mutations in Mad1l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01570:Mad1l1	APN	5	140117277	missense	probably benign	0.00
IGL02098:Mad1l1	APN	5	140310589	splice site	probably benign
IGL02100:Mad1l1	APN	5	140143934	missense	probably damaging	1.00
IGL03131:Mad1l1	APN	5	140307703	missense	probably benign	0.18
R0738:Mad1l1	UTSW	5	140300560	missense	probably damaging	1.00
R1902:Mad1l1	UTSW	5	140303688	missense	possibly damaging	0.57
R1989:Mad1l1	UTSW	5	140303670	missense	probably benign	0.27
R2090:Mad1l1	UTSW	5	140009256	missense	probably benign	0.01
R2471:Mad1l1	UTSW	5	140261552	missense	probably benign	0.43
R4049:Mad1l1	UTSW	5	140132816	missense	probably damaging	1.00
R4050:Mad1l1	UTSW	5	140132816	missense	probably damaging	1.00
R4096:Mad1l1	UTSW	5	140307673	missense	probably benign	0.01
R4682:Mad1l1	UTSW	5	140300252	missense	possibly damaging	0.47
R4729:Mad1l1	UTSW	5	140261511	missense	possibly damaging	0.76
R4838:Mad1l1	UTSW	5	140300262	nonsense	probably null
R5946:Mad1l1	UTSW	5	140261579	missense	probably damaging	1.00
R6088:Mad1l1	UTSW	5	140193963	missense	probably benign	0.13
R6362:Mad1l1	UTSW	5	140315055	missense	possibly damaging	0.71
R6845:Mad1l1	UTSW	5	140009169	missense	probably damaging	1.00
R6957:Mad1l1	UTSW	5	140065817	missense	probably damaging	0.99
R6983:Mad1l1	UTSW	5	140193984	missense	probably damaging	0.99
R7347:Mad1l1	UTSW	5	140144044	missense	probably damaging	1.00
R7807:Mad1l1	UTSW	5	140088786	missense	probably benign	0.01
R8147:Mad1l1	UTSW	5	140143979	missense	probably damaging	1.00
R8545:Mad1l1	UTSW	5	140300494	missense	probably benign	0.04
U24488:Mad1l1	UTSW	5	140315085	missense	probably damaging	1.00
X0026:Mad1l1	UTSW	5	140009205	missense	probably damaging	1.00
Z1177:Mad1l1	UTSW	5	140105582	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