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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R8480 (G1)

Quality Score

223.009

Status

Validated

Chromosome

Chromosomal Location

49055613-49078775 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 49074999 bp (GRCm38)

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
2410089E03Rik	C	A	15: 8,187,458	P720Q	possibly damaging	Het
Acvr1b	G	A	15: 101,210,839	V499M	possibly damaging	Het
Adam5	G	A	8: 24,804,459	Q375*	probably null	Het
Adgrf1	G	A	17: 43,295,164	E60K	probably benign	Het
Alb	T	C	5: 90,462,771	V70A	probably damaging	Het
Aph1b	T	A	9: 66,788,427		probably benign	Het
Aste1	G	A	9: 105,396,990	R143Q	possibly damaging	Het
Aste1	A	T	9: 105,397,796	T351S	probably damaging	Het
Bace2	T	A	16: 97,413,470	L286Q	probably damaging	Het
Bach1	G	A	16: 87,719,275	G235R	probably damaging	Het
Brwd1	A	T	16: 96,047,430	H516Q	probably damaging	Het
Cc2d2a	C	A	5: 43,685,144		probably null	Het
Cdh22	T	A	2: 165,146,726	E236D	probably benign	Het
Celsr1	G	T	15: 86,033,085	S229*	probably null	Het
Celsr2	T	A	3: 108,398,902	T2029S	probably benign	Het
Col11a1	A	G	3: 114,181,394	D1234G	probably benign	Het
Cpt2	A	G	4: 107,907,760	I269T	probably damaging	Het
Dcaf7	T	A	11: 106,054,793	S323T	probably benign	Het
Ddias	G	T	7: 92,859,400	Q436K	probably benign	Het
Dlec1	G	A	9: 119,143,267		probably null	Het
Dock5	T	A	14: 67,836,410	I294F	probably benign	Het
Fat2	A	T	11: 55,282,968	D2306E	possibly damaging	Het
Gm4787	T	A	12: 81,377,506	D626V	probably damaging	Het
Gm6563	A	G	19: 23,675,926	T27A	probably benign	Het
Hadhb	T	C	5: 30,168,570		probably null	Het
Hsph1	A	T	5: 149,627,564	W406R	probably null	Het
Ighv1-66	C	T	12: 115,593,382	G27R	possibly damaging	Het
Impad1	C	T	4: 4,769,376	M246I	probably benign	Het
Krt26	T	C	11: 99,337,600	E102G	probably damaging	Het
Krt34	T	A	11: 100,040,145		probably null	Het
Krt36	T	C	11: 100,102,809	D401G	possibly damaging	Het
Loxhd1	G	A	18: 77,431,131	G326S	probably damaging	Het
Lrrc8b	A	G	5: 105,485,936	N758S	probably damaging	Het
Mkl2	A	T	16: 13,384,192		probably null	Het
Muc4	C	T	16: 32,752,993	T957I	probably benign	Het
Naip5	T	C	13: 100,222,235	Y831C	probably damaging	Het
Nfatc1	A	T	18: 80,635,644	V829E	probably benign	Het
Nmnat1	G	A	4: 149,473,370	L72F	possibly damaging	Het
Olfr1316	A	T	2: 112,129,985	D275E	possibly damaging	Het
Pcdh7	T	A	5: 58,129,065	V1161E	probably damaging	Het
Raver1	A	G	9: 21,090,280	Y86H	probably benign	Het
Recql4	G	T	15: 76,704,505	H1035Q	probably benign	Het
Sgsm1	A	T	5: 113,263,418	M814K	probably benign	Het
Sh3d19	T	G	3: 86,084,877	W71G	probably benign	Het
Sidt1	T	C	16: 44,245,166	Y759C	probably damaging	Het
Spg11	G	T	2: 122,113,079	D197E	probably damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,866,069		probably null	Het
Ssc5d	A	T	7: 4,936,329	D588V	probably damaging	Het
Supt20	C	A	3: 54,707,116	T181K	probably damaging	Het
Szt2	A	T	4: 118,386,818	S1363R	probably benign	Het
Tbcel	G	A	9: 42,463,873		probably null	Het
Ube2e3	T	C	2: 78,918,814	L169P	probably damaging	Het
Wrn	A	G	8: 33,288,768	F595S	probably benign	Het
Zfp473	G	T	7: 44,732,899	P670Q	probably damaging	Het

Other mutations in Zw10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01778:Zw10	APN	9	49069615	missense	probably benign
IGL02111:Zw10	APN	9	49068754	missense	probably damaging	0.98
IGL02673:Zw10	APN	9	49077593	splice site	probably null
PIT4382001:Zw10	UTSW	9	49071644	missense	probably benign	0.15
R0402:Zw10	UTSW	9	49068723	missense	probably benign	0.00
R0736:Zw10	UTSW	9	49064132	missense	probably benign	0.00
R1830:Zw10	UTSW	9	49069741	missense	probably damaging	1.00
R1966:Zw10	UTSW	9	49068833	missense	probably damaging	1.00
R2231:Zw10	UTSW	9	49064121	missense	possibly damaging	0.79
R2474:Zw10	UTSW	9	49066805	missense	probably damaging	1.00
R2849:Zw10	UTSW	9	49057641	critical splice acceptor site	probably null
R3162:Zw10	UTSW	9	49077560	missense	probably damaging	0.98
R3162:Zw10	UTSW	9	49077560	missense	probably damaging	0.98
R4893:Zw10	UTSW	9	49074025	missense	possibly damaging	0.58
R4927:Zw10	UTSW	9	49068683	missense	probably damaging	1.00
R5070:Zw10	UTSW	9	49077459	nonsense	probably null
R5214:Zw10	UTSW	9	49064163	missense	possibly damaging	0.91
R5637:Zw10	UTSW	9	49057650	missense	probably damaging	1.00
R5983:Zw10	UTSW	9	49077445	splice site	probably null
R6368:Zw10	UTSW	9	49073235	missense	probably damaging	1.00
R6605:Zw10	UTSW	9	49069626	missense	probably benign	0.00
R7221:Zw10	UTSW	9	49069712	missense	probably benign	0.00
R7292:Zw10	UTSW	9	49061191	missense	probably benign	0.00
R7938:Zw10	UTSW	9	49071633	missense	probably benign	0.04
R8120:Zw10	UTSW	9	49074113	missense	probably benign	0.26
R8376:Zw10	UTSW	9	49077483	missense	possibly damaging	0.85
R8471:Zw10	UTSW	9	49071614	missense	probably damaging	0.99
R8735:Zw10	UTSW	9	49077561	missense	probably damaging	0.99
R9699:Zw10	UTSW	9	49055642	start gained	probably benign
RF007:Zw10	UTSW	9	49060920	missense	possibly damaging	0.81
Z1177:Zw10	UTSW	9	49074096	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