Mutagenetix > Incidental Mutation

Incidental Mutation 'R7938:Zw10'

648873

Institutional Source

Beutler Lab

Gene Symbol

Zw10

Ensembl Gene

ENSMUSG00000032264

Gene Name

zw10 kinetochore protein

Synonyms

MmZw10, 6330566F14Rik

MMRRC Submission

045984-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R7938 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

48966913-48990075 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 48982933 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 521 (D521E)

Ref Sequence

ENSEMBL: ENSMUSP00000034803 (fasta)

Gene Model

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

AlphaFold

O54692

Predicted Effect

probably benign
Transcript: ENSMUST00000034803
AA Change: D521E

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000034803
Gene: ENSMUSG00000032264
AA Change: D521E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000213787

Meta Mutation Damage Score

0.1098

Coding Region Coverage

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

Validation Efficiency

98% (63/64)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ampd2	C	A	3: 107,987,432 (GRCm39)	V134L	probably benign	Het
Bcam	T	G	7: 19,490,738 (GRCm39)	E586D	probably benign	Het
Bmp7	A	C	2: 172,721,283 (GRCm39)	I264S	probably benign	Het
Casz1	G	A	4: 149,028,943 (GRCm39)	M1129I	probably benign	Het
Ccdc59	T	A	10: 105,677,455 (GRCm39)	N31K	probably benign	Het
Cfap61	A	G	2: 145,887,376 (GRCm39)	Y607C	probably benign	Het
Cnga1	T	C	5: 72,761,597 (GRCm39)	E639G	probably benign	Het
Coch	T	A	12: 51,643,366 (GRCm39)		probably null	Het
Col6a6	A	C	9: 105,657,883 (GRCm39)	Y776*	probably null	Het
Cyp1a1	T	G	9: 57,609,073 (GRCm39)	L318R	probably damaging	Het
Cyp3a16	T	A	5: 145,389,666 (GRCm39)	Y233F	probably benign	Het
Dgkz	G	T	2: 91,795,817 (GRCm39)	R42S	probably damaging	Het
Dner	A	G	1: 84,673,218 (GRCm39)	Y78H	possibly damaging	Het
Fat2	T	C	11: 55,163,922 (GRCm39)	N3111S	probably damaging	Het
Frmpd2	T	C	14: 33,260,246 (GRCm39)	S768P	probably benign	Het
Gm45861	T	A	8: 28,071,990 (GRCm39)	N1269K	unknown	Het
Gpr12	T	A	5: 146,520,094 (GRCm39)	Y276F	possibly damaging	Het
Hace1	C	T	10: 45,562,792 (GRCm39)	P769L	probably benign	Het
Hapln1	G	A	13: 89,753,347 (GRCm39)	R171H	probably damaging	Het
Hlx	T	G	1: 184,464,125 (GRCm39)	T72P	probably benign	Het
Iqcm	G	T	8: 76,304,596 (GRCm39)	C119F	probably benign	Het
Katna1	G	T	10: 7,637,075 (GRCm39)	A409S	probably benign	Het
Kcnip2	A	T	19: 45,782,729 (GRCm39)	I204N	probably damaging	Het
Kel	G	T	6: 41,675,310 (GRCm39)	Q314K	probably benign	Het
Klf5	T	C	14: 99,536,444 (GRCm39)	V5A	probably damaging	Het
Lax1	A	T	1: 133,607,896 (GRCm39)	C282S	probably benign	Het
Lyar	A	G	5: 38,388,295 (GRCm39)	T274A	probably benign	Het
Mboat1	A	G	13: 30,415,959 (GRCm39)	H306R	possibly damaging	Het
Morn5	A	T	2: 35,947,082 (GRCm39)	Y120F	probably benign	Het
Mrgprx2	T	C	7: 48,132,240 (GRCm39)	T193A	probably benign	Het
Myh10	T	A	11: 68,583,327 (GRCm39)	W8R	unknown	Het
Nfasc	A	G	1: 132,533,269 (GRCm39)	V644A	probably damaging	Het
Nup153	G	T	13: 46,842,855 (GRCm39)		probably null	Het
Nup50l	T	C	6: 96,141,866 (GRCm39)	K393E	possibly damaging	Het
Or1o4	T	A	17: 37,590,991 (GRCm39)	M107L	probably benign	Het
Or4x6	A	T	2: 89,949,173 (GRCm39)	Y256*	probably null	Het
Or5h19	A	T	16: 58,856,325 (GRCm39)	Y258*	probably null	Het
Orc4	A	T	2: 48,800,203 (GRCm39)	V315E	possibly damaging	Het
Pcsk5	T	A	19: 17,443,549 (GRCm39)		probably null	Het
Pif1	A	G	9: 65,502,073 (GRCm39)	D635G	probably benign	Het
Plscr4	C	T	9: 92,372,843 (GRCm39)	R322*	probably null	Het
Ppfia2	A	G	10: 106,310,648 (GRCm39)	T52A	probably damaging	Het
Ppp1r36	A	T	12: 76,485,180 (GRCm39)	D301V	probably damaging	Het
Prss46	A	G	9: 110,680,500 (GRCm39)	N215S	probably benign	Het
Qser1	A	C	2: 104,619,312 (GRCm39)	V410G	probably damaging	Het
Reln	A	C	5: 22,155,870 (GRCm39)	N2207K	probably damaging	Het
Rimkla	A	G	4: 119,327,810 (GRCm39)	V180A	probably benign	Het
Rpa1	CA	C	11: 75,198,050 (GRCm39)		probably null	Het
Rsph3a	G	T	17: 8,165,050 (GRCm39)	E137*	probably null	Het
Spata31f1a	A	G	4: 42,850,765 (GRCm39)	S464P	possibly damaging	Het
Sqle	C	A	15: 59,196,315 (GRCm39)	H369Q	probably damaging	Het
Srebf2	T	A	15: 82,057,016 (GRCm39)	D250E	probably damaging	Het
Svs3b	A	T	2: 164,097,567 (GRCm39)	C251*	probably null	Het
Tdrd9	A	T	12: 111,997,649 (GRCm39)	N713Y	possibly damaging	Het
Terf2ip	T	C	8: 112,738,717 (GRCm39)	S202P	possibly damaging	Het
Trank1	A	G	9: 111,194,096 (GRCm39)	T707A	probably benign	Het
Trav8-1	T	G	14: 53,707,688 (GRCm39)	D109E	possibly damaging	Het
Trem2	T	A	17: 48,658,777 (GRCm39)	S181T	probably benign	Het
Trim37	A	G	11: 87,037,863 (GRCm39)	N199S	probably benign	Het
Tshz3	T	C	7: 36,468,583 (GRCm39)	F191L	probably damaging	Het
Ubxn8	A	G	8: 34,111,712 (GRCm39)	M227T	probably damaging	Het
Uggt2	T	A	14: 119,296,519 (GRCm39)	I448F	possibly damaging	Het
Usp47	T	A	7: 111,687,132 (GRCm39)	L697M	probably damaging	Het
Vmn2r52	T	C	7: 9,893,300 (GRCm39)	D613G	probably benign	Het
Wdr81	T	C	11: 75,338,828 (GRCm39)	T1444A	probably benign	Het
Zfp423	T	C	8: 88,622,304 (GRCm39)	Y11C	unknown	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
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
R8480:Zw10	UTSW	9	48,986,299 (GRCm39)	missense	probably benign	0.01
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'- TTTCCTGCAGTGACCAAGG -3'
(R):5'- CTGGACACAGTTCTTTTGAGCTTC -3'

Sequencing Primer
(F):5'- CAGTGACCAAGGCGTGTG -3'
(R):5'- CACAGTTCTTTTGAGCTTCTAAGTG -3'

Posted On

2020-09-15