Mutagenetix > Incidental Mutation

Incidental Mutation 'R5946:Mad1l1'

472164

Institutional Source

Beutler Lab

Gene Symbol

Mad1l1

Ensembl Gene

ENSMUSG00000029554

Gene Name

MAD1 mitotic arrest deficient 1-like 1

Synonyms

Mad1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5946 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

139994444-140307307 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 140247334 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 331 (P331Q)

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: P331Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031534
Gene: ENSMUSG00000029554
AA Change: P331Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000110829
AA Change: P331Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106453
Gene: ENSMUSG00000029554
AA Change: P331Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132832

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.4%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	G	6: 142,571,678 (GRCm39)	F1137S	probably damaging	Het
Actr6	G	T	10: 89,564,054 (GRCm39)	Q73K	probably benign	Het
Adamtsl3	G	A	7: 82,225,265 (GRCm39)	G358D	probably damaging	Het
Aggf1	A	G	13: 95,508,084 (GRCm39)	V94A	probably damaging	Het
Arpc3	A	G	5: 122,541,459 (GRCm39)	Y57C	probably damaging	Het
Asb2	A	G	12: 103,287,814 (GRCm39)	Y630H	probably benign	Het
Atp1a1	A	T	3: 101,497,090 (GRCm39)	N405K	probably benign	Het
C6	G	T	15: 4,837,996 (GRCm39)	D869Y	possibly damaging	Het
Cds2	A	G	2: 132,139,168 (GRCm39)	Y137C	probably damaging	Het
Ceacam12	A	T	7: 17,803,131 (GRCm39)	E179V	probably damaging	Het
Chgb	T	A	2: 132,634,516 (GRCm39)	Y153N	probably benign	Het
Cit	T	A	5: 116,135,593 (GRCm39)	L1831Q	probably damaging	Het
Cpne8	C	A	15: 90,373,191 (GRCm39)	*578L	probably null	Het
Cspg5	A	G	9: 110,080,151 (GRCm39)	T440A	probably damaging	Het
Dnah7a	A	C	1: 53,598,467 (GRCm39)	V1393G	probably damaging	Het
Dnajb8	A	G	6: 88,199,575 (GRCm39)	D37G	probably benign	Het
Dst	A	G	1: 34,213,273 (GRCm39)	I1063M	probably benign	Het
Efs	T	G	14: 55,156,951 (GRCm39)		probably null	Het
Gpatch1	A	G	7: 34,991,257 (GRCm39)	S596P	probably damaging	Het
Hbs1l	C	A	10: 21,217,655 (GRCm39)	H190Q	probably benign	Het
Ighm	A	G	12: 113,386,329 (GRCm39)	V7A	unknown	Het
Ivd	A	T	2: 118,707,370 (GRCm39)	I295F	possibly damaging	Het
Kcnq5	A	C	1: 21,575,931 (GRCm39)	S258A	probably damaging	Het
Mcf2l	G	T	8: 13,063,922 (GRCm39)	G1045C	probably damaging	Het
Mcoln1	T	A	8: 3,558,701 (GRCm39)	I233N	probably damaging	Het
Mmp13	T	C	9: 7,276,580 (GRCm39)	L225P	probably damaging	Het
Muc5ac	G	A	7: 141,371,644 (GRCm39)	C2615Y	possibly damaging	Het
Myh7b	T	C	2: 155,463,315 (GRCm39)	F516L	probably damaging	Het
Obsl1	A	T	1: 75,467,851 (GRCm39)	S1347R	probably damaging	Het
Ogn	A	G	13: 49,771,761 (GRCm39)	N207S	probably benign	Het
Or2h15	C	A	17: 38,441,598 (GRCm39)	A162S	probably benign	Het
Or8b12	T	A	9: 37,658,330 (GRCm39)	L300Q	probably damaging	Het
Pcdha2	G	T	18: 37,074,159 (GRCm39)	V597L	probably damaging	Het
Pcnt	T	A	10: 76,217,897 (GRCm39)	Y2126F	possibly damaging	Het
Pgbd5	A	T	8: 125,101,056 (GRCm39)	M400K	possibly damaging	Het
Pklr	A	T	3: 89,043,503 (GRCm39)	E5V	probably benign	Het
Pkp4	T	A	2: 59,135,411 (GRCm39)	D94E	probably benign	Het
Ppan	C	T	9: 20,800,969 (GRCm39)	Q111*	probably null	Het
Prkcb	A	G	7: 122,143,926 (GRCm39)	N330S	probably benign	Het
Prl4a1	T	A	13: 28,202,499 (GRCm39)	W25R	probably damaging	Het
Rars2	T	A	4: 34,656,855 (GRCm39)	H501Q	possibly damaging	Het
Ryr2	T	C	13: 11,741,839 (GRCm39)	D2114G	probably damaging	Het
Serinc2	G	T	4: 130,149,314 (GRCm39)	T351K	possibly damaging	Het
Slc22a12	A	G	19: 6,587,881 (GRCm39)	F358L	probably damaging	Het
Sorcs2	A	C	5: 36,186,427 (GRCm39)	V905G	probably damaging	Het
Tekt3	G	C	11: 62,985,573 (GRCm39)	A460P	probably damaging	Het
Tm4sf1	T	G	3: 57,200,289 (GRCm39)	I109L	possibly damaging	Het
Tmc5	A	T	7: 118,269,948 (GRCm39)	E899D	probably damaging	Het
Tmem268	C	T	4: 63,486,746 (GRCm39)	P90S	probably damaging	Het
Trim38	A	G	13: 23,966,717 (GRCm39)	M55V	probably benign	Het
Trip10	T	G	17: 57,557,963 (GRCm39)	V50G	probably damaging	Het
Usp25	T	A	16: 76,911,942 (GRCm39)	C990*	probably null	Het
Uts2	A	G	4: 151,083,506 (GRCm39)	D39G	probably benign	Het
Vezf1	T	A	11: 87,964,560 (GRCm39)	C49*	probably null	Het
Wee2	T	A	6: 40,440,146 (GRCm39)	N431K	probably null	Het
Yeats2	C	A	16: 20,026,513 (GRCm39)	Y796*	probably null	Het
Zfp592	G	A	7: 80,687,645 (GRCm39)	G890D	possibly damaging	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	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
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
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'- AGCCCCAGGTACTATGAAACAG -3'
(R):5'- AAGTAGTCTATCCACCCTCCACTG -3'

Sequencing Primer
(F):5'- CCCCAGGTACTATGAAACAGTAATGG -3'
(R):5'- TCCACTGAGGTGCTTGGAC -3'

Posted On

2017-03-31