Mutagenetix > Incidental Mutation

Incidental Mutation 'R4997:Mad2l1bp'

385392

Institutional Source

Beutler Lab

Gene Symbol

Mad2l1bp

Ensembl Gene

ENSMUSG00000034509

Gene Name

MAD2L1 binding protein

Synonyms

0610009D16Rik, CMT2A, 2510031P20Rik, CMT2B

MMRRC Submission

042591-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.910) question?

Stock #

R4997 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46458311-46464477 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 46463804 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 73 (C73*)

Ref Sequence

ENSEMBL: ENSMUSP00000125915 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000171172]

AlphaFold

Q9DCX1

Predicted Effect

probably null
Transcript: ENSMUST00000171172
AA Change: C73*

SMART Domains

Protein: ENSMUSP00000125915
Gene: ENSMUSG00000034509
AA Change: C73*

Domain	Start	End	E-Value	Type
Pfam:p31comet	13	276	6.4e-166	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene was identified as a binding protein of the MAD2 mitotic arrest deficient-like 1 (MAD2/MAD2L1). MAD2 is a key component of the spindle checkpoint that delays the onset of anaphase until all the kinetochores are attached to the spindle. This protein may interact with the spindle checkpoint and coordinate cell cycle events in late mitosis. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630023A22Rik	A	T	14: 33,775,623 (GRCm39)	M1L	probably benign	Het
Abca7	C	A	10: 79,843,154 (GRCm39)	Q1210K	possibly damaging	Het
Abcc4	C	T	14: 118,753,915 (GRCm39)	W1024*	probably null	Het
Accs	A	T	2: 93,672,228 (GRCm39)	Y213*	probably null	Het
Adam6a	G	T	12: 113,508,991 (GRCm39)	G455C	probably damaging	Het
Adcy1	A	C	11: 7,111,298 (GRCm39)	Y863S	probably benign	Het
Adgrg1	A	G	8: 95,736,148 (GRCm39)	D434G	probably damaging	Het
Afap1l1	C	T	18: 61,884,879 (GRCm39)	R202Q	probably benign	Het
Aldh3a1	T	C	11: 61,103,137 (GRCm39)	V27A	probably benign	Het
Antxr2	A	G	5: 98,125,553 (GRCm39)	F235L	probably benign	Het
Arhgap23	T	A	11: 97,342,846 (GRCm39)	V376E	probably damaging	Het
Brca1	A	C	11: 101,415,159 (GRCm39)	S992A	probably damaging	Het
Brcc3dc	A	G	10: 108,535,649 (GRCm39)	I102T	probably benign	Het
Calcrl	A	T	2: 84,181,592 (GRCm39)	C185*	probably null	Het
Cep152	T	C	2: 125,428,271 (GRCm39)	T787A	probably benign	Het
Coch	T	A	12: 51,649,964 (GRCm39)		probably null	Het
Col5a1	T	A	2: 27,922,794 (GRCm39)	Y287*	probably null	Het
Dis3l	A	G	9: 64,219,224 (GRCm39)	S569P	possibly damaging	Het
Dnai1	A	G	4: 41,597,919 (GRCm39)	I74V	possibly damaging	Het
Dpy19l4	A	G	4: 11,287,493 (GRCm39)	V394A	probably benign	Het
Egfem1	A	G	3: 29,207,739 (GRCm39)	H122R	probably benign	Het
Endou	A	G	15: 97,617,458 (GRCm39)	L164P	probably damaging	Het
Epgn	A	G	5: 91,180,098 (GRCm39)	E80G	possibly damaging	Het
Fcgbpl1	T	G	7: 27,843,349 (GRCm39)	S746A	possibly damaging	Het
Fitm1	T	C	14: 55,814,364 (GRCm39)	S287P	probably benign	Het
Foxm1	A	G	6: 128,342,731 (GRCm39)	N22D	probably benign	Het
Gsdmc	A	T	15: 63,648,629 (GRCm39)	M426K	probably damaging	Het
Hmcn2	T	A	2: 31,291,720 (GRCm39)	V2418D	probably damaging	Het
Hs3st2	T	A	7: 121,099,679 (GRCm39)	L175Q	possibly damaging	Het
Il1r2	T	C	1: 40,160,206 (GRCm39)		probably null	Het
Il27ra	A	T	8: 84,766,156 (GRCm39)	Y209*	probably null	Het
Inpp5a	A	T	7: 138,980,654 (GRCm39)	S31C	probably benign	Het
Invs	A	G	4: 48,396,332 (GRCm39)	D335G	probably damaging	Het
Isg15	C	T	4: 156,284,154 (GRCm39)	E125K	possibly damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lama4	C	A	10: 38,968,262 (GRCm39)	T1468K	probably damaging	Het
Lce1a2	A	G	3: 92,576,395 (GRCm39)	S56P	unknown	Het
Llgl1	C	T	11: 60,600,394 (GRCm39)	P581L	probably benign	Het
Lmf1	G	A	17: 25,807,650 (GRCm39)	W164*	probably null	Het
Mpzl1	A	C	1: 165,429,350 (GRCm39)	V230G	probably damaging	Het
Myo3b	A	G	2: 70,088,427 (GRCm39)	T869A	possibly damaging	Het
Ncor2	T	C	5: 125,111,074 (GRCm39)	H1316R	probably damaging	Het
Nlrp1b	T	A	11: 71,109,160 (GRCm39)	I114F	probably damaging	Het
Nsun7	A	G	5: 66,453,182 (GRCm39)	I632M	probably benign	Het
Nubp1	T	C	16: 10,239,185 (GRCm39)	I234T	probably benign	Het
Olfml1	A	G	7: 107,170,413 (GRCm39)	D100G	probably damaging	Het
Or1e1b-ps1	T	A	11: 73,845,612 (GRCm39)	L32Q	probably damaging	Het
Or5p73	C	A	7: 108,064,701 (GRCm39)	Q57K	probably benign	Het
Or7g23	A	T	9: 19,086,627 (GRCm39)	L115Q	probably damaging	Het
Osmr	G	T	15: 6,845,120 (GRCm39)	P882Q	probably benign	Het
Peg10	TCAGGATCC	TCAGGATCCCCAGCAGGATCC	6: 4,756,457 (GRCm39)		probably benign	Het
Per2	T	A	1: 91,378,505 (GRCm39)	T15S	probably benign	Het
Piezo2	A	G	18: 63,216,184 (GRCm39)	Y1184H	probably damaging	Het
Pik3c2b	C	T	1: 133,032,819 (GRCm39)	A1560V	probably damaging	Het
Pik3cd	A	C	4: 149,743,441 (GRCm39)	L256R	probably damaging	Het
Ppl	C	A	16: 4,907,235 (GRCm39)	R1020L	probably damaging	Het
Ppp1r10	A	G	17: 36,234,976 (GRCm39)	N60S	probably damaging	Het
Prkcg	T	C	7: 3,371,097 (GRCm39)		probably null	Het
Prkci	T	C	3: 31,085,375 (GRCm39)		probably null	Het
Prrc2b	A	G	2: 32,112,323 (GRCm39)	Y1929C	probably damaging	Het
Prss12	T	C	3: 123,240,857 (GRCm39)	V17A	probably benign	Het
Qtrt1	A	G	9: 21,328,654 (GRCm39)	N206S	probably benign	Het
Rad54l2	A	C	9: 106,600,108 (GRCm39)	S50A	possibly damaging	Het
Rhov	C	T	2: 119,100,949 (GRCm39)	R96H	probably damaging	Het
Rph3a	A	T	5: 121,101,906 (GRCm39)	V110E	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Ryr2	A	T	13: 11,610,192 (GRCm39)	N646K	probably benign	Het
Scn8a	A	G	15: 100,854,935 (GRCm39)	T141A	probably damaging	Het
Serping1	T	C	2: 84,600,629 (GRCm39)	R238G	possibly damaging	Het
Shank3	T	A	15: 89,433,901 (GRCm39)	W1474R	probably damaging	Het
Slc16a12	T	A	19: 34,652,358 (GRCm39)	M263L	probably benign	Het
Spata13	T	C	14: 60,946,908 (GRCm39)	V652A	probably damaging	Het
Spata31	G	A	13: 65,067,537 (GRCm39)	M66I	probably benign	Het
Spem2	T	C	11: 69,708,558 (GRCm39)	I136V	probably benign	Het
Supt5	T	C	7: 28,015,462 (GRCm39)	H925R	probably benign	Het
Syk	A	T	13: 52,766,484 (GRCm39)	K190*	probably null	Het
Thsd1	T	A	8: 22,733,340 (GRCm39)	V129D	probably damaging	Het
Tiprl	A	G	1: 165,047,759 (GRCm39)	V174A	possibly damaging	Het
Tmed4	T	A	11: 6,224,500 (GRCm39)		probably null	Het
Tnfrsf19	T	C	14: 61,208,658 (GRCm39)	T288A	probably benign	Het
Tnfrsf25	T	C	4: 152,202,153 (GRCm39)		probably null	Het
Tpd52	A	G	3: 9,000,056 (GRCm39)	L121S	probably damaging	Het
Trim30a	T	A	7: 104,060,827 (GRCm39)	K316N	probably benign	Het
Ttc3	T	G	16: 94,253,841 (GRCm39)	D1221E	probably damaging	Het
Ttn	C	T	2: 76,714,403 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,776,615 (GRCm39)	I1514V	probably benign	Het
Ulk2	T	C	11: 61,689,982 (GRCm39)	T671A	probably benign	Het
Wasf1	C	T	10: 40,810,600 (GRCm39)	P281S	probably damaging	Het
Wnt10b	C	A	15: 98,672,084 (GRCm39)	R211L	probably damaging	Het
Xpnpep3	T	A	15: 81,332,577 (GRCm39)	C371*	probably null	Het
Zfp41	C	T	15: 75,490,617 (GRCm39)		probably benign	Het
Zfp553	T	A	7: 126,834,683 (GRCm39)	N79K	probably benign	Het
Zmynd8	G	T	2: 165,634,736 (GRCm39)	D1096E	probably benign	Het

Other mutations in Mad2l1bp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02016:Mad2l1bp	APN	17	46,464,428 (GRCm39)	utr 5 prime	probably benign
R1694:Mad2l1bp	UTSW	17	46,463,770 (GRCm39)	missense	possibly damaging	0.50
R1770:Mad2l1bp	UTSW	17	46,463,838 (GRCm39)	missense	probably benign	0.19
R4242:Mad2l1bp	UTSW	17	46,463,913 (GRCm39)	missense	possibly damaging	0.87
R4801:Mad2l1bp	UTSW	17	46,459,189 (GRCm39)	missense	possibly damaging	0.89
R4802:Mad2l1bp	UTSW	17	46,459,189 (GRCm39)	missense	possibly damaging	0.89
R5176:Mad2l1bp	UTSW	17	46,463,738 (GRCm39)	missense	probably benign	0.39
R6570:Mad2l1bp	UTSW	17	46,463,933 (GRCm39)	missense	probably benign	0.01
R7544:Mad2l1bp	UTSW	17	46,463,770 (GRCm39)	missense	possibly damaging	0.50
R7827:Mad2l1bp	UTSW	17	46,458,993 (GRCm39)	missense	possibly damaging	0.79
R8950:Mad2l1bp	UTSW	17	46,458,891 (GRCm39)	missense	possibly damaging	0.59
R9114:Mad2l1bp	UTSW	17	46,458,958 (GRCm39)	missense	probably damaging	0.97
R9116:Mad2l1bp	UTSW	17	46,458,958 (GRCm39)	missense	probably damaging	0.97
Z1177:Mad2l1bp	UTSW	17	46,458,867 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AGGCTGAAGACATCTTAGGTCAC -3'
(R):5'- TAACGCTGACTTTGACAACCC -3'

Sequencing Primer
(F):5'- GCTGAAGACATCTTAGGTCACTTTTC -3'
(R):5'- CCTTTTCACTTATGGACTAGATTTGG -3'

Posted On

2016-05-10