Mutagenetix > Incidental Mutation

Incidental Mutation 'R7347:Mad1l1'

570271

Institutional Source

Beutler Lab

Gene Symbol

Mad1l1

Ensembl Gene

ENSMUSG00000029554

Gene Name

MAD1 mitotic arrest deficient 1-like 1

Synonyms

Mad1

MMRRC Submission

045374-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7347 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140008689-140321552 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 140144044 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 412 (R412H)

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: R412H

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

SMART Domains

Protein: ENSMUSP00000031534
Gene: ENSMUSG00000029554
AA Change: R412H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000110829
AA Change: R412H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000106453
Gene: ENSMUSG00000029554
AA Change: R412H

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (80/80)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	T	A	9: 103,282,646 (GRCm38)	E22V	possibly damaging	Het
4930564D02Rik	G	T	3: 105,078,412 (GRCm38)	R47S	unknown	Het
4931408C20Rik	A	T	1: 26,684,467 (GRCm38)	L544Q	probably benign	Het
Abtb2	T	G	2: 103,567,412 (GRCm38)	I229S	probably damaging	Het
Adgre1	T	C	17: 57,420,441 (GRCm38)	L457P	probably damaging	Het
Amer3	C	A	1: 34,587,902 (GRCm38)	D407E	probably damaging	Het
Arhgap20	T	C	9: 51,849,035 (GRCm38)	S729P	probably benign	Het
Asap2	T	G	12: 21,229,457 (GRCm38)	I418S	probably benign	Het
Atp5j2	T	C	5: 145,188,485 (GRCm38)		probably null	Het
Brinp3	T	A	1: 146,902,086 (GRCm38)	V757E	probably benign	Het
Brip1	C	T	11: 86,139,103 (GRCm38)	G572R	probably benign	Het
C3	C	A	17: 57,223,215 (GRCm38)	R462L	probably benign	Het
Cat	T	A	2: 103,463,298 (GRCm38)	H395L	probably benign	Het
Cela3a	T	C	4: 137,402,606 (GRCm38)	N235D	possibly damaging	Het
Cep89	G	A	7: 35,429,928 (GRCm38)	R630H	probably damaging	Het
Cntnap1	G	T	11: 101,185,268 (GRCm38)	G993W	probably damaging	Het
Col9a1	A	G	1: 24,179,403 (GRCm38)		probably null	Het
Coro2b	G	T	9: 62,489,372 (GRCm38)	H29N	probably benign	Het
Dll3	C	T	7: 28,299,111 (GRCm38)	R143H	probably damaging	Het
Dsel	C	T	1: 111,861,573 (GRCm38)	G411S	probably damaging	Het
Dync1i1	T	A	6: 5,784,530 (GRCm38)	*114R	probably null	Het
Ecm2	T	C	13: 49,515,078 (GRCm38)	S86P	probably damaging	Het
Eif5	T	C	12: 111,540,290 (GRCm38)		probably benign	Het
Ets1	T	A	9: 32,733,032 (GRCm38)		probably null	Het
Exph5	A	G	9: 53,375,896 (GRCm38)	N1426D	possibly damaging	Het
Eya2	T	C	2: 165,687,666 (GRCm38)	F110L	probably benign	Het
Flt1	T	A	5: 147,580,381 (GRCm38)	E1032V	probably damaging	Het
Galnt5	A	T	2: 58,017,193 (GRCm38)	H556L	probably benign	Het
Glb1l3	A	T	9: 26,829,003 (GRCm38)	Y344N	probably benign	Het
Glrx3	C	A	7: 137,459,286 (GRCm38)	D216E	possibly damaging	Het
Gm45871	T	A	18: 90,591,375 (GRCm38)	C246S	probably damaging	Het
Gm8251	G	T	1: 44,059,496 (GRCm38)	P814Q	probably damaging	Het
Gm906	T	C	13: 50,245,744 (GRCm38)	I849V	probably benign	Het
Gstm4	A	G	3: 108,042,373 (GRCm38)	L137P	probably benign	Het
Hsd17b13	T	C	5: 103,968,750 (GRCm38)	T169A	probably damaging	Het
Hydin	A	C	8: 110,600,362 (GRCm38)	T4778P	probably benign	Het
Ifna15	A	G	4: 88,557,983 (GRCm38)	L88P	probably damaging	Het
Kcnab1	G	A	3: 65,376,531 (GRCm38)	R390H	probably benign	Het
Kng1	C	A	16: 23,067,787 (GRCm38)	H161N	possibly damaging	Het
Lamp5	T	C	2: 136,060,958 (GRCm38)	V199A	probably benign	Het
Lrig3	G	A	10: 126,009,966 (GRCm38)	V755M	probably damaging	Het
March6	C	A	15: 31,486,359 (GRCm38)	C350F	probably benign	Het
Mastl	A	G	2: 23,133,389 (GRCm38)	S441P	probably damaging	Het
Mfsd13b	A	T	7: 120,991,728 (GRCm38)	M231L	probably benign	Het
Micalcl	T	C	7: 112,382,151 (GRCm38)	V444A	probably benign	Het
Ms4a6d	G	A	19: 11,590,073 (GRCm38)	Q155*	probably null	Het
Myo15	A	G	11: 60,477,961 (GRCm38)	M516V	probably benign	Het
Myo1b	A	T	1: 51,751,254 (GRCm38)	F1110L	probably damaging	Het
Nbr1	T	A	11: 101,569,321 (GRCm38)	L381*	probably null	Het
Nln	T	C	13: 104,050,847 (GRCm38)	K325E	probably damaging	Het
Nr4a3	T	G	4: 48,051,290 (GRCm38)	S15A	possibly damaging	Het
Nrp2	C	T	1: 62,745,504 (GRCm38)	P271S	probably benign	Het
Obox6	A	C	7: 15,834,646 (GRCm38)	L102V	possibly damaging	Het
Olfr1008	T	C	2: 85,689,837 (GRCm38)	M136T	probably damaging	Het
Olfr1208	T	C	2: 88,897,271 (GRCm38)	I109V	possibly damaging	Het
Olfr1241	T	C	2: 89,482,455 (GRCm38)	S227G	probably benign	Het
Olfr853	A	G	9: 19,537,099 (GRCm38)	M277T	probably damaging	Het
Pde10a	A	G	17: 8,967,462 (GRCm38)	H567R	probably damaging	Het
Pdgfra	C	T	5: 75,183,098 (GRCm38)	S760L	possibly damaging	Het
Pid1	T	A	1: 84,159,129 (GRCm38)	I94L	unknown	Het
Plekhn1	T	C	4: 156,222,671 (GRCm38)	H474R	probably benign	Het
Prcc	A	T	3: 87,869,681 (GRCm38)	S329T	possibly damaging	Het
Pros1	G	T	16: 62,919,523 (GRCm38)	R445L	probably damaging	Het
Pxdn	C	A	12: 30,012,261 (GRCm38)	H1370Q	probably benign	Het
Sgce	T	A	6: 4,694,106 (GRCm38)	R283S	probably damaging	Het
Slc25a20	T	G	9: 108,682,458 (GRCm38)		probably null	Het
Slc6a1	T	C	6: 114,311,818 (GRCm38)	V446A	probably damaging	Het
Slc6a4	C	G	11: 77,017,085 (GRCm38)	Y358*	probably null	Het
Sned1	A	C	1: 93,281,736 (GRCm38)	E857A	probably damaging	Het
Spdye4b	C	T	5: 143,202,390 (GRCm38)	R213C	possibly damaging	Het
Spry2	T	G	14: 105,893,512 (GRCm38)	E80A	probably damaging	Het
Stard9	G	A	2: 120,666,534 (GRCm38)	C142Y	probably benign	Het
Sync	A	T	4: 129,294,306 (GRCm38)	Q377L	probably benign	Het
Tdrd12	A	G	7: 35,485,692 (GRCm38)	C718R		Het
Tgoln1	G	C	6: 72,616,278 (GRCm38)	T73R	probably benign	Het
Tmbim1	T	C	1: 74,291,279 (GRCm38)	E185G	probably benign	Het
Tyk2	T	C	9: 21,108,034 (GRCm38)	M1031V	probably damaging	Het
Vmn1r71	C	T	7: 10,748,501 (GRCm38)	V87I	not run	Het
Vmn2r49	A	G	7: 9,986,814 (GRCm38)	V250A	probably benign	Het
Yipf3	A	C	17: 46,250,827 (GRCm38)	T187P	probably damaging	Het
Zfp148	G	T	16: 33,434,790 (GRCm38)	R50L	possibly damaging	Het
Zfp628	G	A	7: 4,921,818 (GRCm38)	G1013E	probably damaging	Het

Other mutations in Mad1l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01570:Mad1l1	APN	5	140,117,277 (GRCm38)	missense	probably benign	0.00
IGL02098:Mad1l1	APN	5	140,310,589 (GRCm38)	splice site	probably benign
IGL02100:Mad1l1	APN	5	140,143,934 (GRCm38)	missense	probably damaging	1.00
IGL03131:Mad1l1	APN	5	140,307,703 (GRCm38)	missense	probably benign	0.18
R0738:Mad1l1	UTSW	5	140,300,560 (GRCm38)	missense	probably damaging	1.00
R1902:Mad1l1	UTSW	5	140,303,688 (GRCm38)	missense	possibly damaging	0.57
R1989:Mad1l1	UTSW	5	140,303,670 (GRCm38)	missense	probably benign	0.27
R2090:Mad1l1	UTSW	5	140,009,256 (GRCm38)	missense	probably benign	0.01
R2471:Mad1l1	UTSW	5	140,261,552 (GRCm38)	missense	probably benign	0.43
R4049:Mad1l1	UTSW	5	140,132,816 (GRCm38)	missense	probably damaging	1.00
R4050:Mad1l1	UTSW	5	140,132,816 (GRCm38)	missense	probably damaging	1.00
R4096:Mad1l1	UTSW	5	140,307,673 (GRCm38)	missense	probably benign	0.01
R4682:Mad1l1	UTSW	5	140,300,252 (GRCm38)	missense	possibly damaging	0.47
R4729:Mad1l1	UTSW	5	140,261,511 (GRCm38)	missense	possibly damaging	0.76
R4838:Mad1l1	UTSW	5	140,300,262 (GRCm38)	nonsense	probably null
R5946:Mad1l1	UTSW	5	140,261,579 (GRCm38)	missense	probably damaging	1.00
R6088:Mad1l1	UTSW	5	140,193,963 (GRCm38)	missense	probably benign	0.13
R6362:Mad1l1	UTSW	5	140,315,055 (GRCm38)	missense	possibly damaging	0.71
R6845:Mad1l1	UTSW	5	140,009,169 (GRCm38)	missense	probably damaging	1.00
R6957:Mad1l1	UTSW	5	140,065,817 (GRCm38)	missense	probably damaging	0.99
R6983:Mad1l1	UTSW	5	140,193,984 (GRCm38)	missense	probably damaging	0.99
R7807:Mad1l1	UTSW	5	140,088,786 (GRCm38)	missense	probably benign	0.01
R8147:Mad1l1	UTSW	5	140,143,979 (GRCm38)	missense	probably damaging	1.00
R8165:Mad1l1	UTSW	5	140,315,058 (GRCm38)	missense	probably benign
R8545:Mad1l1	UTSW	5	140,300,494 (GRCm38)	missense	probably benign	0.04
R8694:Mad1l1	UTSW	5	140,088,683 (GRCm38)	missense	probably benign	0.32
R8750:Mad1l1	UTSW	5	140,315,067 (GRCm38)	missense	probably benign
R8981:Mad1l1	UTSW	5	140,315,058 (GRCm38)	missense	probably benign
R9095:Mad1l1	UTSW	5	140,302,986 (GRCm38)	missense	probably damaging	1.00
R9232:Mad1l1	UTSW	5	140,105,541 (GRCm38)	missense	probably benign	0.02
R9338:Mad1l1	UTSW	5	140,088,806 (GRCm38)	missense	probably damaging	1.00
U24488:Mad1l1	UTSW	5	140,315,085 (GRCm38)	missense	probably damaging	1.00
X0026:Mad1l1	UTSW	5	140,009,205 (GRCm38)	missense	probably damaging	1.00
Z1177:Mad1l1	UTSW	5	140,105,582 (GRCm38)	missense	probably benign	0.23

Predicted Primers

PCR Primer
(F):5'- GTTGCCTGGAACCCTCTAAC -3'
(R):5'- AACTGAGTCTGGAGCTCTGC -3'

Sequencing Primer
(F):5'- AATAACCCCCTTGGCTGC -3'
(R):5'- TCTGCAGGCCTAGACCTCTG -3'

Posted On

2019-09-13