Mutagenetix > Incidental Mutation

Incidental Mutation 'R8147:Mad1l1'

632849

Institutional Source

Beutler Lab

Gene Symbol

Mad1l1

Ensembl Gene

ENSMUSG00000029554

Gene Name

MAD1 mitotic arrest deficient 1-like 1

Synonyms

Mad1

MMRRC Submission

067575-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8147 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

139994444-140307307 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 140129734 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 434 (R434C)

Ref Sequence

ENSEMBL: ENSMUSP00000031534 (fasta)

Gene Model

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

AlphaFold

Q9WTX8

Predicted Effect

probably damaging
Transcript: ENSMUST00000031534
AA Change: R434C

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

SMART Domains

Protein: ENSMUSP00000031534
Gene: ENSMUSG00000029554
AA Change: R434C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000110829
AA Change: R434C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106453
Gene: ENSMUSG00000029554
AA Change: R434C

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

Coding Region Coverage

1x: 99.8%
3x: 99.5%
10x: 98.5%
20x: 94.3%

Validation Efficiency

100% (55/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg7	T	C	16: 56,562,876 (GRCm39)	E487G	probably damaging	Het
Aldh9a1	T	A	1: 167,184,949 (GRCm39)	I287N	probably damaging	Het
Aox1	T	A	1: 58,339,821 (GRCm39)	N371K	probably benign	Het
Atr	T	A	9: 95,781,113 (GRCm39)	F1392L	probably damaging	Het
Bicra	G	A	7: 15,722,395 (GRCm39)	P374L	possibly damaging	Het
Cacna1b	C	T	2: 24,569,188 (GRCm39)	R912Q	probably damaging	Het
Cdhr1	T	C	14: 36,801,609 (GRCm39)	N778S	probably benign	Het
Cert1	C	T	13: 96,679,736 (GRCm39)	P22L	probably benign	Het
Dgat2	C	T	7: 98,806,187 (GRCm39)	V337I	possibly damaging	Het
Dlg5	T	C	14: 24,208,395 (GRCm39)	D937G	probably benign	Het
Dqx1	T	C	6: 83,037,222 (GRCm39)	V295A	probably benign	Het
Dsg3	A	G	18: 20,673,130 (GRCm39)	T934A	probably benign	Het
Fam81b	A	C	13: 76,383,140 (GRCm39)	V243G	probably damaging	Het
Gen1	A	T	12: 11,305,051 (GRCm39)		probably null	Het
Glrx3	G	A	7: 137,064,736 (GRCm39)	S275N	probably benign	Het
Igdcc4	A	T	9: 65,031,253 (GRCm39)	Q397L	probably benign	Het
Ints6	C	T	14: 62,951,186 (GRCm39)	G281D	probably damaging	Het
Kalrn	A	T	16: 33,875,414 (GRCm39)	S1722T	probably benign	Het
Lrrc4b	A	G	7: 44,111,829 (GRCm39)	D567G	probably damaging	Het
Macf1	A	G	4: 123,385,491 (GRCm39)	L1200S	probably damaging	Het
Mia3	A	T	1: 183,109,062 (GRCm39)	F358I		Het
Ncapd3	C	T	9: 26,942,014 (GRCm39)		probably benign	Het
Nfkb2	A	G	19: 46,295,873 (GRCm39)	R156G	possibly damaging	Het
Nus1	T	C	10: 52,305,416 (GRCm39)		probably null	Het
Or2y14	C	T	11: 49,405,050 (GRCm39)	T195I	probably benign	Het
Or4a79	T	A	2: 89,552,186 (GRCm39)	I90F	probably damaging	Het
Or4c31	T	C	2: 88,292,427 (GRCm39)	F267L	possibly damaging	Het
Or5aq1b	T	A	2: 86,902,017 (GRCm39)	I154F	probably benign	Het
Pafah1b2	A	G	9: 45,895,147 (GRCm39)		probably null	Het
Pold2	T	C	11: 5,826,842 (GRCm39)	T31A	probably benign	Het
Ppp1r12b	T	C	1: 134,801,680 (GRCm39)	N512S	possibly damaging	Het
Prl8a8	A	T	13: 27,695,564 (GRCm39)	L23Q	probably damaging	Het
Ptprb	T	C	10: 116,153,283 (GRCm39)	V293A	probably damaging	Het
Rpl18a	G	T	8: 71,348,069 (GRCm39)	T174N	probably damaging	Het
Senp5	A	T	16: 31,808,128 (GRCm39)	H375Q	probably benign	Het
Setbp1	A	T	18: 78,900,015 (GRCm39)	F1217L	probably damaging	Het
Skint4	A	G	4: 111,993,218 (GRCm39)	I314V	probably benign	Het
Slc28a2	A	G	2: 122,288,682 (GRCm39)	D596G	probably benign	Het
Stat5b	A	G	11: 100,688,607 (GRCm39)	I285T	probably benign	Het
Sycp3	T	C	10: 88,298,467 (GRCm39)		probably null	Het
Sympk	T	C	7: 18,770,718 (GRCm39)	F270L	probably damaging	Het
Taar5	T	C	10: 23,846,749 (GRCm39)	V49A	probably damaging	Het
Tbx18	C	T	9: 87,606,411 (GRCm39)	V245I	probably damaging	Het
Tet1	A	G	10: 62,714,586 (GRCm39)	M403T	probably benign	Het
Tmprss11f	A	T	5: 86,677,769 (GRCm39)	F333L	probably damaging	Het
Tnpo3	T	C	6: 29,589,213 (GRCm39)	I46V	probably benign	Het
Traf5	G	T	1: 191,746,984 (GRCm39)	N112K	probably damaging	Het
Trim12c	A	T	7: 103,991,165 (GRCm39)	M263K	unknown	Het
Trim55	A	G	3: 19,727,011 (GRCm39)	I359M	probably benign	Het
Utp20	A	T	10: 88,594,306 (GRCm39)	W2140R	probably benign	Het
Vgll3	T	C	16: 65,624,964 (GRCm39)	V104A	probably damaging	Het
Vmn2r74	C	A	7: 85,605,227 (GRCm39)	G474*	probably null	Het
Vps18	G	A	2: 119,123,237 (GRCm39)	A98T	probably benign	Het
Zfand4	T	A	6: 116,291,169 (GRCm39)	S387T	probably damaging	Het
Zfp808	A	G	13: 62,320,934 (GRCm39)	Y721C	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
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
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'- ACTGTCTTCAAGGCACCTG -3'
(R):5'- TGTGCAGGGACTCTAAAGCTC -3'

Sequencing Primer
(F):5'- GAAGCCTTGCCTTGCCTTGAAG -3'
(R):5'- GGACTCTAAAGCTCACATCTCTGATG -3'

Posted On

2020-06-30