Mutagenetix > Incidental Mutation

Incidental Mutation 'R8480:Zw10'

657481

Institutional Source

Beutler Lab

Gene Symbol

Zw10

Ensembl Gene

ENSMUSG00000032264

Gene Name

zw10 kinetochore protein

Synonyms

MmZw10, 6330566F14Rik

MMRRC Submission

067924-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R8480 (G1)

Quality Score

223.009

Status

Validated

Chromosome

Chromosomal Location

48966913-48990075 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 48986299 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 660 (A660V)

Ref Sequence

ENSEMBL: ENSMUSP00000034803 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034803]

AlphaFold

O54692

Predicted Effect

probably benign
Transcript: ENSMUST00000034803
AA Change: A660V

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000034803
Gene: ENSMUSG00000032264
AA Change: A660V

Domain	Start	End	E-Value	Type
Pfam:Zw10	9	621	2.1e-249	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213787

Coding Region Coverage

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

Validation Efficiency

98% (53/54)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is one of many involved in mechanisms to ensure proper chromosome segregation during cell division. This protein is an essential component of the mitotic checkpoint, which prevents cells from prematurely exiting mitosis. [provided by RefSeq, Aug 2011]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1b	G	A	15: 101,108,720 (GRCm39)	V499M	possibly damaging	Het
Adam5	G	A	8: 25,294,475 (GRCm39)	Q375*	probably null	Het
Adgrf1	G	A	17: 43,606,055 (GRCm39)	E60K	probably benign	Het
Alb	T	C	5: 90,610,630 (GRCm39)	V70A	probably damaging	Het
Aph1b	T	A	9: 66,695,709 (GRCm39)		probably benign	Het
Aste1	G	A	9: 105,274,189 (GRCm39)	R143Q	possibly damaging	Het
Aste1	A	T	9: 105,274,995 (GRCm39)	T351S	probably damaging	Het
Bace2	T	A	16: 97,214,670 (GRCm39)	L286Q	probably damaging	Het
Bach1	G	A	16: 87,516,163 (GRCm39)	G235R	probably damaging	Het
Bpnt2	C	T	4: 4,769,376 (GRCm39)	M246I	probably benign	Het
Brwd1	A	T	16: 95,848,630 (GRCm39)	H516Q	probably damaging	Het
Cc2d2a	C	A	5: 43,842,486 (GRCm39)		probably null	Het
Cdh22	T	A	2: 164,988,646 (GRCm39)	E236D	probably benign	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Celsr2	T	A	3: 108,306,218 (GRCm39)	T2029S	probably benign	Het
Col11a1	A	G	3: 113,975,043 (GRCm39)	D1234G	probably benign	Het
Cplane1	C	A	15: 8,216,942 (GRCm39)	P720Q	possibly damaging	Het
Cpt2	A	G	4: 107,764,957 (GRCm39)	I269T	probably damaging	Het
Dcaf7	T	A	11: 105,945,619 (GRCm39)	S323T	probably benign	Het
Ddias	G	T	7: 92,508,608 (GRCm39)	Q436K	probably benign	Het
Dlec1	G	A	9: 118,972,335 (GRCm39)		probably null	Het
Dock5	T	A	14: 68,073,859 (GRCm39)	I294F	probably benign	Het
Fat2	A	T	11: 55,173,794 (GRCm39)	D2306E	possibly damaging	Het
Gm4787	T	A	12: 81,424,280 (GRCm39)	D626V	probably damaging	Het
Gm6563	A	G	19: 23,653,290 (GRCm39)	T27A	probably benign	Het
Hadhb	T	C	5: 30,373,568 (GRCm39)		probably null	Het
Hsph1	A	T	5: 149,551,029 (GRCm39)	W406R	probably null	Het
Ighv1-66	C	T	12: 115,557,002 (GRCm39)	G27R	possibly damaging	Het
Krt26	T	C	11: 99,228,426 (GRCm39)	E102G	probably damaging	Het
Krt34	T	A	11: 99,930,971 (GRCm39)		probably null	Het
Krt36	T	C	11: 99,993,635 (GRCm39)	D401G	possibly damaging	Het
Loxhd1	G	A	18: 77,518,827 (GRCm39)	G326S	probably damaging	Het
Lrrc8b	A	G	5: 105,633,802 (GRCm39)	N758S	probably damaging	Het
Mrtfb	A	T	16: 13,202,056 (GRCm39)		probably null	Het
Muc4	C	T	16: 32,574,421 (GRCm39)	T957I	probably benign	Het
Naip5	T	C	13: 100,358,743 (GRCm39)	Y831C	probably damaging	Het
Nfatc1	A	T	18: 80,678,859 (GRCm39)	V829E	probably benign	Het
Nmnat1	G	A	4: 149,557,827 (GRCm39)	L72F	possibly damaging	Het
Or4f14d	A	T	2: 111,960,330 (GRCm39)	D275E	possibly damaging	Het
Pcdh7	T	A	5: 58,286,407 (GRCm39)	V1161E	probably damaging	Het
Raver1	A	G	9: 21,001,576 (GRCm39)	Y86H	probably benign	Het
Recql4	G	T	15: 76,588,705 (GRCm39)	H1035Q	probably benign	Het
Sgsm1	A	T	5: 113,411,284 (GRCm39)	M814K	probably benign	Het
Sh3d19	T	G	3: 85,992,184 (GRCm39)	W71G	probably benign	Het
Sidt1	T	C	16: 44,065,529 (GRCm39)	Y759C	probably damaging	Het
Spg11	G	T	2: 121,943,560 (GRCm39)	D197E	probably damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,701,903 (GRCm39)		probably null	Het
Ssc5d	A	T	7: 4,939,328 (GRCm39)	D588V	probably damaging	Het
Supt20	C	A	3: 54,614,537 (GRCm39)	T181K	probably damaging	Het
Szt2	A	T	4: 118,244,015 (GRCm39)	S1363R	probably benign	Het
Tbcel	G	A	9: 42,375,169 (GRCm39)		probably null	Het
Ube2e3	T	C	2: 78,749,158 (GRCm39)	L169P	probably damaging	Het
Wrn	A	G	8: 33,778,796 (GRCm39)	F595S	probably benign	Het
Zfp473	G	T	7: 44,382,323 (GRCm39)	P670Q	probably damaging	Het

Other mutations in Zw10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01778:Zw10	APN	9	48,980,915 (GRCm39)	missense	probably benign
IGL02111:Zw10	APN	9	48,980,054 (GRCm39)	missense	probably damaging	0.98
IGL02673:Zw10	APN	9	48,988,893 (GRCm39)	splice site	probably null
PIT4382001:Zw10	UTSW	9	48,982,944 (GRCm39)	missense	probably benign	0.15
R0402:Zw10	UTSW	9	48,980,023 (GRCm39)	missense	probably benign	0.00
R0736:Zw10	UTSW	9	48,975,432 (GRCm39)	missense	probably benign	0.00
R1830:Zw10	UTSW	9	48,981,041 (GRCm39)	missense	probably damaging	1.00
R1966:Zw10	UTSW	9	48,980,133 (GRCm39)	missense	probably damaging	1.00
R2231:Zw10	UTSW	9	48,975,421 (GRCm39)	missense	possibly damaging	0.79
R2474:Zw10	UTSW	9	48,978,105 (GRCm39)	missense	probably damaging	1.00
R2849:Zw10	UTSW	9	48,968,941 (GRCm39)	critical splice acceptor site	probably null
R3162:Zw10	UTSW	9	48,988,860 (GRCm39)	missense	probably damaging	0.98
R3162:Zw10	UTSW	9	48,988,860 (GRCm39)	missense	probably damaging	0.98
R4893:Zw10	UTSW	9	48,985,325 (GRCm39)	missense	possibly damaging	0.58
R4927:Zw10	UTSW	9	48,979,983 (GRCm39)	missense	probably damaging	1.00
R5070:Zw10	UTSW	9	48,988,759 (GRCm39)	nonsense	probably null
R5214:Zw10	UTSW	9	48,975,463 (GRCm39)	missense	possibly damaging	0.91
R5637:Zw10	UTSW	9	48,968,950 (GRCm39)	missense	probably damaging	1.00
R5983:Zw10	UTSW	9	48,988,745 (GRCm39)	splice site	probably null
R6368:Zw10	UTSW	9	48,984,535 (GRCm39)	missense	probably damaging	1.00
R6605:Zw10	UTSW	9	48,980,926 (GRCm39)	missense	probably benign	0.00
R7221:Zw10	UTSW	9	48,981,012 (GRCm39)	missense	probably benign	0.00
R7292:Zw10	UTSW	9	48,972,491 (GRCm39)	missense	probably benign	0.00
R7938:Zw10	UTSW	9	48,982,933 (GRCm39)	missense	probably benign	0.04
R8120:Zw10	UTSW	9	48,985,413 (GRCm39)	missense	probably benign	0.26
R8376:Zw10	UTSW	9	48,988,783 (GRCm39)	missense	possibly damaging	0.85
R8471:Zw10	UTSW	9	48,982,914 (GRCm39)	missense	probably damaging	0.99
R8735:Zw10	UTSW	9	48,988,861 (GRCm39)	missense	probably damaging	0.99
R9699:Zw10	UTSW	9	48,966,942 (GRCm39)	start gained	probably benign
RF007:Zw10	UTSW	9	48,972,220 (GRCm39)	missense	possibly damaging	0.81
Z1177:Zw10	UTSW	9	48,985,396 (GRCm39)	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- ATGTTGAAGAGCCACAGCGTC -3'
(R):5'- TAACCCTCAAGAGACGGAGG -3'

Sequencing Primer
(F):5'- AGCCACAGCGTCCTCGTTAC -3'
(R):5'- CCCCAGGGAGTTTAGAGGTCAG -3'

Posted On

2021-01-18