Mutagenetix > Incidental Mutation

Incidental Mutation 'R4927:Zw10'

380912

Institutional Source

Beutler Lab

Gene Symbol

Zw10

Ensembl Gene

ENSMUSG00000032264

Gene Name

zw10 kinetochore protein

Synonyms

MmZw10, 6330566F14Rik

MMRRC Submission

042528-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R4927 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48966913-48990075 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 48979983 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 371 (F371L)

Ref Sequence

ENSEMBL: ENSMUSP00000034803 (fasta)

Gene Model

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

AlphaFold

O54692

Predicted Effect

probably damaging
Transcript: ENSMUST00000034803
AA Change: F371L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034803
Gene: ENSMUSG00000032264
AA Change: F371L

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

Predicted Effect

unknown
Transcript: ENSMUST00000213787
AA Change: F53L

Meta Mutation Damage Score

0.7795

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

97% (76/78)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	C	T	5: 35,959,766 (GRCm39)	R73C	possibly damaging	Het
Adamts2	T	A	11: 50,694,639 (GRCm39)	L1142*	probably null	Het
Arl13b	C	A	16: 62,622,150 (GRCm39)	G381V	probably damaging	Het
Ash1l	G	T	3: 88,892,641 (GRCm39)	V1507F	probably damaging	Het
Babam2	T	A	5: 31,859,408 (GRCm39)	F38I	probably benign	Het
Bend4	T	C	5: 67,557,619 (GRCm39)	Y399C	probably damaging	Het
Btn1a1	A	T	13: 23,644,794 (GRCm39)		probably null	Het
Cacna1g	A	T	11: 94,319,973 (GRCm39)	L1401Q	probably damaging	Het
Ccdc192	C	T	18: 57,863,888 (GRCm39)	Q213*	probably null	Het
Cep192	T	C	18: 67,968,195 (GRCm39)	V893A	probably benign	Het
Cnot10	A	T	9: 114,447,012 (GRCm39)	Y355N	probably damaging	Het
Col6a5	G	C	9: 105,811,163 (GRCm39)	S785R	unknown	Het
Cpa3	A	G	3: 20,276,303 (GRCm39)	L310P	probably damaging	Het
Cux2	A	G	5: 122,015,152 (GRCm39)	I247T	probably benign	Het
Dab1	A	G	4: 104,561,449 (GRCm39)	T245A	probably benign	Het
Dmrta1	A	T	4: 89,579,985 (GRCm39)	D315V	probably damaging	Het
Dnah12	T	A	14: 26,583,762 (GRCm39)	L599*	probably null	Het
Dync1h1	T	C	12: 110,629,289 (GRCm39)	I4231T	possibly damaging	Het
Fat1	T	C	8: 45,476,000 (GRCm39)	V1659A	probably damaging	Het
Flot2	G	A	11: 77,949,888 (GRCm39)	V406M	probably damaging	Het
Galnt2	A	G	8: 125,032,362 (GRCm39)	D75G	probably damaging	Het
Gcnt3	A	T	9: 69,942,464 (GRCm39)	C35S	probably damaging	Het
Gp2	A	G	7: 119,052,118 (GRCm39)	F199L	probably benign	Het
Gramd2b	C	T	18: 56,618,523 (GRCm39)	P244S	probably damaging	Het
Hhipl1	T	C	12: 108,278,203 (GRCm39)	L177P	probably damaging	Het
Homez	T	C	14: 55,095,264 (GRCm39)	E148G	possibly damaging	Het
Kcnab3	G	A	11: 69,217,572 (GRCm39)	C22Y	possibly damaging	Het
Kcnh8	C	A	17: 53,185,009 (GRCm39)	S430R	probably damaging	Het
Kcnn2	T	C	18: 45,692,798 (GRCm39)	C125R	probably benign	Het
Klhl7	G	A	5: 24,346,185 (GRCm39)	R277Q	possibly damaging	Het
Krt78	A	G	15: 101,855,334 (GRCm39)	S826P	probably benign	Het
Krtap14	T	C	16: 88,622,919 (GRCm39)	Y20C	possibly damaging	Het
Lrcol1	A	G	5: 110,502,163 (GRCm39)		probably null	Het
Lrrc10b	G	A	19: 10,434,226 (GRCm39)	P152S	probably damaging	Het
Lrrn3	C	G	12: 41,503,124 (GRCm39)	D398H	probably damaging	Het
Map3k19	T	C	1: 127,749,932 (GRCm39)	I1140V	probably benign	Het
Mos	G	A	4: 3,871,093 (GRCm39)	T241M	probably damaging	Het
Nol8	A	G	13: 49,807,901 (GRCm39)	E39G	possibly damaging	Het
Olfm1	T	G	2: 28,104,798 (GRCm39)	S212A	probably benign	Het
Or2ak6	T	A	11: 58,592,633 (GRCm39)	F35L	probably damaging	Het
Pip4p2	G	T	4: 14,912,458 (GRCm39)	R189L	probably damaging	Het
Plec	G	T	15: 76,061,162 (GRCm39)	T2947K	probably damaging	Het
Pramel27	A	T	4: 143,578,187 (GRCm39)	Q149L	probably damaging	Het
Rasgrp3	A	G	17: 75,823,350 (GRCm39)	M474V	probably benign	Het
Ryr1	T	C	7: 28,719,408 (GRCm39)	Y4333C	unknown	Het
Scrn2	G	C	11: 96,924,326 (GRCm39)		probably null	Het
Slc22a12	C	A	19: 6,587,791 (GRCm39)	V388L	probably benign	Het
Slc4a11	A	G	2: 130,526,866 (GRCm39)	V754A	probably damaging	Het
Slco2b1	A	G	7: 99,335,195 (GRCm39)	F195S	probably damaging	Het
Slfn9	A	C	11: 82,872,216 (GRCm39)	M840R	possibly damaging	Het
Speer4b	T	C	5: 27,706,263 (GRCm39)	N35D	probably damaging	Het
Taf1d	T	A	9: 15,221,250 (GRCm39)	D185E	probably damaging	Het
Taok2	A	G	7: 126,475,213 (GRCm39)	L245P	probably damaging	Het
Tent4a	A	T	13: 69,651,019 (GRCm39)		probably null	Het
Ticam2	T	C	18: 46,693,846 (GRCm39)	I80M	probably damaging	Het
Tmem268	G	A	4: 63,502,164 (GRCm39)	V331I	probably benign	Het
Tsga10	T	C	1: 37,840,931 (GRCm39)	E425G	probably damaging	Het
Ttc7	A	G	17: 87,654,133 (GRCm39)		probably null	Het
Ttf1	C	T	2: 28,954,668 (GRCm39)	H11Y	possibly damaging	Het
Unc13a	T	C	8: 72,107,489 (GRCm39)	H601R	probably damaging	Het
Vmn2r102	A	T	17: 19,880,661 (GRCm39)	M1L	probably benign	Het
Vmn2r120	G	T	17: 57,816,125 (GRCm39)	N743K	probably damaging	Het
Wnt6	C	A	1: 74,823,295 (GRCm39)		probably null	Het
Wnt6	A	C	1: 74,823,296 (GRCm39)		probably null	Het
Wnt8a	T	A	18: 34,680,525 (GRCm39)	C297S	probably damaging	Het
Zfp786	T	C	6: 47,797,087 (GRCm39)	Q617R	probably benign	Het
Zfp91	A	G	19: 12,753,774 (GRCm39)		probably null	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
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
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'- TTTGATAATGTATGCACAGTTGATCT -3'
(R):5'- GATGCGGTCAACCCCAAGTAC -3'

Sequencing Primer
(F):5'- CCTGACTGTTGACGGACAATACTTG -3'
(R):5'- CCCAAGTACCTTGACAGTGTTGTG -3'

Posted On

2016-04-15