Mutagenetix > Incidental Mutation

Incidental Mutation 'R8950:Mad2l1bp'

681602

Institutional Source

Beutler Lab

Gene Symbol

Mad2l1bp

Ensembl Gene

ENSMUSG00000034509

Gene Name

MAD2L1 binding protein

Synonyms

0610009D16Rik, CMT2A, 2510031P20Rik, CMT2B

Accession Numbers

Essential gene?

Probably essential (E-score: 0.910) question?

Stock #

R8950 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46458311-46464477 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 46458891 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 213 (T213I)

Ref Sequence

ENSEMBL: ENSMUSP00000125915 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024762] [ENSMUST00000171172]

AlphaFold

Q9DCX1

Predicted Effect

probably benign
Transcript: ENSMUST00000024762

SMART Domains

Protein: ENSMUSP00000024762
Gene: ENSMUSG00000023966

Domain	Start	End	E-Value	Type
low complexity region	5	21	N/A	INTRINSIC
Pfam:Radial_spoke	203	276	1.7e-9	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171172
AA Change: T213I

PolyPhen 2 Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000125915
Gene: ENSMUSG00000034509
AA Change: T213I

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	C	7: 119,823,595 (GRCm39)	F374S	possibly damaging	Het
Abca14	T	A	7: 119,823,644 (GRCm39)	Y390*	probably null	Het
Abca9	T	C	11: 110,054,206 (GRCm39)		probably null	Het
Anxa1	G	T	19: 20,352,662 (GRCm39)	S304*	probably null	Het
Aspm	G	A	1: 139,406,690 (GRCm39)	R1859Q	probably damaging	Het
Atp13a5	A	T	16: 29,197,314 (GRCm39)	N14K	probably damaging	Het
Bmpr1a	G	T	14: 34,163,148 (GRCm39)	H81N	possibly damaging	Het
Camkv	C	T	9: 107,824,296 (GRCm39)	T236I	probably damaging	Het
Carm1	T	A	9: 21,490,789 (GRCm39)	M219K	probably damaging	Het
Ccdc162	T	C	10: 41,474,507 (GRCm39)	R1352G	probably benign	Het
Cd200l1	A	T	16: 45,263,007 (GRCm39)	V44D	possibly damaging	Het
Cib1	A	G	7: 79,878,211 (GRCm39)	L89P	probably damaging	Het
Col6a5	C	T	9: 105,822,833 (GRCm39)	E175K	unknown	Het
Crebbp	A	G	16: 4,031,023 (GRCm39)	F22S	probably damaging	Het
Csf2rb	A	T	15: 78,232,520 (GRCm39)	D609V	probably benign	Het
Csn1s1	T	C	5: 87,824,482 (GRCm39)		probably null	Het
Dchs1	A	T	7: 105,408,212 (GRCm39)	H1873Q	probably benign	Het
Dnah1	T	C	14: 31,012,396 (GRCm39)	D1901G	probably damaging	Het
Dock10	G	T	1: 80,519,016 (GRCm39)	T1235N	probably benign	Het
Eddm3b	T	A	14: 51,354,110 (GRCm39)	S33T	probably damaging	Het
Fam151b	A	T	13: 92,610,567 (GRCm39)	M74K	probably damaging	Het
Fat1	T	A	8: 45,476,158 (GRCm39)	F1735I	probably damaging	Het
Fcgbpl1	A	G	7: 27,863,751 (GRCm39)	R2508G	probably benign	Het
Fip1l1	T	G	5: 74,756,524 (GRCm39)	S505R	probably damaging	Het
Gm21886	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	18: 80,133,040 (GRCm39)		probably benign	Het
Gpr180	A	G	14: 118,395,452 (GRCm39)	I295V	probably benign	Het
Gtf3c2	G	A	5: 31,331,151 (GRCm39)	T175I	probably damaging	Het
Hmcn2	T	C	2: 31,244,741 (GRCm39)	Y733H	probably damaging	Het
Irs1	T	A	1: 82,264,652 (GRCm39)	Q1188L	probably benign	Het
Kcnk5	T	C	14: 20,192,046 (GRCm39)	R372G	probably benign	Het
Kdm5b	T	A	1: 134,541,664 (GRCm39)	N746K	possibly damaging	Het
Kdm7a	T	C	6: 39,123,903 (GRCm39)	I754V	probably benign	Het
Map2	G	T	1: 66,419,684 (GRCm39)	R5L	probably damaging	Het
Map4	G	A	9: 109,901,702 (GRCm39)	V781M	possibly damaging	Het
Mbd2	A	G	18: 70,713,864 (GRCm39)	D231G	probably damaging	Het
Negr1	C	A	3: 156,721,906 (GRCm39)	P160Q	probably damaging	Het
Nfya	A	T	17: 48,700,489 (GRCm39)		probably benign	Het
Nlk	T	C	11: 78,586,758 (GRCm39)	Q112R	probably benign	Het
Obscn	C	A	11: 58,947,009 (GRCm39)	A4339S	probably damaging	Het
Or3a10	A	G	11: 73,935,782 (GRCm39)	F106S	possibly damaging	Het
Or5b99	A	T	19: 12,976,445 (GRCm39)	I32F	probably damaging	Het
Pcdhb12	A	G	18: 37,570,590 (GRCm39)	T579A	probably benign	Het
Pcdhb2	G	A	18: 37,429,715 (GRCm39)	V563M	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Piezo1	T	C	8: 123,208,729 (GRCm39)	R2545G	probably benign	Het
Plcb1	A	G	2: 135,179,439 (GRCm39)	N616D	probably damaging	Het
Pogk	A	T	1: 166,226,394 (GRCm39)	F586I	probably damaging	Het
Polr1f	T	A	12: 33,483,526 (GRCm39)	Y93N	probably damaging	Het
Prkg2	T	A	5: 99,119,815 (GRCm39)	I435F	possibly damaging	Het
Prrt4	T	C	6: 29,177,665 (GRCm39)	T35A	probably damaging	Het
Rad17	A	G	13: 100,767,576 (GRCm39)	S342P	probably damaging	Het
Rpl36-ps4	A	G	17: 88,228,574 (GRCm39)	T40A	probably damaging	Het
Skint5	T	C	4: 113,374,349 (GRCm39)	T1247A	unknown	Het
Slc22a14	A	G	9: 118,998,778 (GRCm39)	L182P	possibly damaging	Het
Slc35b3	T	C	13: 39,138,097 (GRCm39)	D104G	probably damaging	Het
Sult2a1	A	G	7: 13,530,342 (GRCm39)	F266L	probably damaging	Het
Sult2a2	A	T	7: 13,467,484 (GRCm39)	M1L	probably damaging	Het
Tat	T	A	8: 110,718,337 (GRCm39)	I74N	probably damaging	Het
Trappc6a	G	T	7: 19,249,923 (GRCm39)		probably benign	Het
Usp44	A	G	10: 93,682,129 (GRCm39)	E193G	possibly damaging	Het
Virma	C	T	4: 11,519,047 (GRCm39)	Q765*	probably null	Het
Vmn1r46	T	C	6: 89,954,053 (GRCm39)	S301P	probably damaging	Het
Vmn2r116	A	T	17: 23,620,467 (GRCm39)	I734F	probably damaging	Het
Vmn2r5	A	T	3: 64,398,522 (GRCm39)	V819D	probably damaging	Het
Vmn2r74	A	G	7: 85,606,569 (GRCm39)	I259T	probably damaging	Het
Vps13a	A	G	19: 16,723,340 (GRCm39)	I286T	probably damaging	Het
Wdr73	T	C	7: 80,550,131 (GRCm39)	I55V	probably benign	Het
Znhit2	A	T	19: 6,111,803 (GRCm39)	R183*	probably null	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
R4997:Mad2l1bp	UTSW	17	46,463,804 (GRCm39)	nonsense	probably null
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
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'- GGAGAGAATTCAGCCATTGTCC -3'
(R):5'- TCCTTCTTGGAGGCAATGCC -3'

Sequencing Primer
(F):5'- GAAACCTTTAAGTGTCACTGGTGCC -3'
(R):5'- TGCCCTCAGCCCTAAAGAATTCTATG -3'

Posted On

2021-08-31