Mutagenetix > Incidental Mutation

Incidental Mutation 'R5637:Zw10'

440450

Institutional Source

Beutler Lab

Gene Symbol

Zw10

Ensembl Gene

ENSMUSG00000032264

Gene Name

zw10 kinetochore protein

Synonyms

MmZw10, 6330566F14Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R5637 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

48966913-48990075 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48968950 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 38 (V38A)

Ref Sequence

ENSEMBL: ENSMUSP00000034803 (fasta)

Gene Model

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

AlphaFold

O54692

Predicted Effect

probably damaging
Transcript: ENSMUST00000034803
AA Change: V38A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000034803
Gene: ENSMUSG00000032264
AA Change: V38A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198232

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215706

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acmsd	T	C	1: 127,694,050 (GRCm39)	F327L	probably damaging	Het
Adgrl3	C	A	5: 81,841,391 (GRCm39)	S824Y	probably damaging	Het
Arfip2	A	G	7: 105,286,370 (GRCm39)	M144T	probably damaging	Het
Arhgap32	A	G	9: 32,158,502 (GRCm39)	N179S	probably damaging	Het
Ash2l	T	C	8: 26,317,339 (GRCm39)	Y249C	probably damaging	Het
Ccndbp1	A	G	2: 120,842,165 (GRCm39)	T141A	probably benign	Het
Cd177	T	A	7: 24,455,748 (GRCm39)	H258L	probably benign	Het
Celsr3	T	C	9: 108,714,332 (GRCm39)	W1956R	probably damaging	Het
Cep295	T	C	9: 15,245,108 (GRCm39)		probably null	Het
Cngb1	T	C	8: 95,984,549 (GRCm39)	H420R	probably damaging	Het
Cobl	C	T	11: 12,246,531 (GRCm39)		probably benign	Het
Cobll1	T	C	2: 64,956,247 (GRCm39)	D337G	possibly damaging	Het
Dmrta1	A	G	4: 89,577,068 (GRCm39)	N175D	probably benign	Het
Dnah7b	G	T	1: 46,395,674 (GRCm39)	V3859L	possibly damaging	Het
Dnah7c	A	G	1: 46,799,521 (GRCm39)		probably null	Het
Dusp4	C	A	8: 35,284,451 (GRCm39)	H255Q	probably damaging	Het
Evx1	T	C	6: 52,292,751 (GRCm39)	V134A	possibly damaging	Het
F12	T	C	13: 55,570,228 (GRCm39)	K93E	possibly damaging	Het
Fam186a	A	C	15: 99,839,628 (GRCm39)	H2205Q	possibly damaging	Het
Fcgbpl1	A	G	7: 27,852,277 (GRCm39)	N1267D	probably benign	Het
Frem2	A	G	3: 53,560,358 (GRCm39)	I1383T	probably damaging	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gpr158	A	G	2: 21,788,083 (GRCm39)	I575V	probably benign	Het
Hdc	A	G	2: 126,458,109 (GRCm39)	V71A	probably benign	Het
Helb	G	A	10: 119,941,353 (GRCm39)	T445M	probably benign	Het
Inppl1	A	T	7: 101,478,055 (GRCm39)	S652R	probably benign	Het
Itpripl1	T	C	2: 126,984,044 (GRCm39)	D26G	probably damaging	Het
Klc1	T	A	12: 111,740,842 (GRCm39)	L106H	probably damaging	Het
Klhl25	T	A	7: 75,515,540 (GRCm39)		probably null	Het
Krt6a	T	C	15: 101,600,714 (GRCm39)	D318G	probably benign	Het
Lrp2	T	C	2: 69,302,762 (GRCm39)	N2989S	probably damaging	Het
Lta4h	A	G	10: 93,304,731 (GRCm39)		probably null	Het
Man1c1	A	G	4: 134,318,735 (GRCm39)	S251P	probably damaging	Het
Mapre2	T	C	18: 23,886,919 (GRCm39)		probably benign	Het
Mfap3l	A	T	8: 61,109,821 (GRCm39)	I66F	probably damaging	Het
Mvk	A	G	5: 114,594,003 (GRCm39)	E286G	possibly damaging	Het
Nos1ap	T	A	1: 170,176,968 (GRCm39)	K145M	probably damaging	Het
Or14a260	G	A	7: 85,984,812 (GRCm39)	T264I	probably benign	Het
Or4f52	T	A	2: 111,061,456 (GRCm39)	K227N	probably benign	Het
Or7d11	A	T	9: 19,966,279 (GRCm39)	V160D	possibly damaging	Het
Pcdh9	A	G	14: 94,123,198 (GRCm39)	F991L	possibly damaging	Het
Pcdha9	T	C	18: 37,131,426 (GRCm39)	V165A	probably benign	Het
Pcsk6	A	G	7: 65,618,745 (GRCm39)	H437R	probably damaging	Het
Pfas	C	T	11: 68,884,149 (GRCm39)	V589M	probably damaging	Het
Prpf40a	A	G	2: 53,046,746 (GRCm39)	V288A	possibly damaging	Het
Rnf183	T	C	4: 62,346,387 (GRCm39)	D137G	probably benign	Het
Rsph6a	A	G	7: 18,788,820 (GRCm39)	S51G	probably benign	Het
Scap	G	A	9: 110,210,640 (GRCm39)	A991T	possibly damaging	Het
Sdk2	C	A	11: 113,724,005 (GRCm39)	V1222F	probably damaging	Het
Sdr16c6	T	A	4: 4,063,232 (GRCm39)	N181I	possibly damaging	Het
Semp2l2a	A	T	8: 13,887,713 (GRCm39)	M126K	possibly damaging	Het
Serpinb7	A	T	1: 107,356,037 (GRCm39)	D20V	probably damaging	Het
Sh3bp2	C	A	5: 34,718,392 (GRCm39)	R531S	possibly damaging	Het
Skint8	C	A	4: 111,807,390 (GRCm39)	L359M	probably damaging	Het
Sox2	A	G	3: 34,704,677 (GRCm39)	N38S	probably benign	Het
Spg7	C	A	8: 123,821,314 (GRCm39)	Q680K	possibly damaging	Het
Styk1	T	C	6: 131,277,381 (GRCm39)	E331G	possibly damaging	Het
Tkfc	G	A	19: 10,571,897 (GRCm39)	R380W	probably benign	Het
Trib3	A	G	2: 152,180,410 (GRCm39)	F261S	probably damaging	Het
Ubr1	T	A	2: 120,793,998 (GRCm39)	Q62L	possibly damaging	Het
Vmn2r54	T	C	7: 12,349,296 (GRCm39)	Y762C	probably benign	Het
Vmn2r97	T	A	17: 19,167,628 (GRCm39)	Y627*	probably null	Het
Zfp12	A	G	5: 143,231,451 (GRCm39)	K625E	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
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'- AAGATCTTGCCCATCCTTGG -3'
(R):5'- GTTTCACAGGATAGCCTTGGAAAAC -3'

Sequencing Primer
(F):5'- CCATCCTTGGGGGTTGGG -3'
(R):5'- GAGGTTATTAATATGATGCCTCCCC -3'

Posted On

2016-11-08