Mutagenetix > Incidental Mutation

Incidental Mutation 'R4405:Zwint'

327630

Institutional Source

Beutler Lab

Gene Symbol

Zwint

Ensembl Gene

ENSMUSG00000019923

Gene Name

ZW10 interactor

Synonyms

2600001N01Rik, 2010007E07Rik, D10Ertd749e

MMRRC Submission

041134-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4405 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72490678-72510796 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72492095 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 59 (L59P)

Ref Sequence

ENSEMBL: ENSMUSP00000124429 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020081] [ENSMUST00000105431] [ENSMUST00000160337] [ENSMUST00000219352]

AlphaFold

Q9CQU5

Predicted Effect

probably damaging
Transcript: ENSMUST00000020081
AA Change: L59P

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

SMART Domains

Protein: ENSMUSP00000020081
Gene: ENSMUSG00000019923
AA Change: L59P

Domain	Start	End	E-Value	Type
low complexity region	4	17	N/A	INTRINSIC
Pfam:Zwint	35	250	8.1e-85	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000105431
AA Change: L59P

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

SMART Domains

Protein: ENSMUSP00000101071
Gene: ENSMUSG00000019923
AA Change: L59P

Domain	Start	End	E-Value	Type
low complexity region	4	17	N/A	INTRINSIC
Pfam:Zwint	35	250	8.1e-85	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159549

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160128

Predicted Effect

probably damaging
Transcript: ENSMUST00000160337
AA Change: L59P

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

SMART Domains

Protein: ENSMUSP00000124429
Gene: ENSMUSG00000019923
AA Change: L59P

Domain	Start	End	E-Value	Type
low complexity region	4	17	N/A	INTRINSIC
Pfam:Zwint	35	250	4.4e-85	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163046

Predicted Effect

probably damaging
Transcript: ENSMUST00000219352
AA Change: L7P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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 clearly involved in kinetochore function although an exact role is not known. It interacts with ZW10, another kinetochore protein, possibly regulating the association between ZW10 and kinetochores. The encoded protein localizes to prophase kinetochores before ZW10 does and it remains detectable on the kinetochore until late anaphase. It has a uniform distribution in the cytoplasm of interphase cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg3	C	T	8: 95,763,536 (GRCm39)	A279V	probably benign	Het
Aggf1	G	A	13: 95,508,102 (GRCm39)	P88L	probably benign	Het
Asb18	T	C	1: 89,896,411 (GRCm39)	T210A	probably benign	Het
Cd8b1	C	T	6: 71,303,006 (GRCm39)	S27L	possibly damaging	Het
Cfap43	C	T	19: 47,728,236 (GRCm39)	S1507N	possibly damaging	Het
Col12a1	A	T	9: 79,547,247 (GRCm39)		probably null	Het
Col19a1	G	A	1: 24,573,190 (GRCm39)	T194M	unknown	Het
Cpb1	T	A	3: 20,317,733 (GRCm39)	T237S	probably benign	Het
Cubn	G	A	2: 13,470,841 (GRCm39)	T517M	probably damaging	Het
Dnah6	T	C	6: 73,106,274 (GRCm39)	N1769S	probably benign	Het
Dnm1	A	G	2: 32,225,984 (GRCm39)	I365T	probably damaging	Het
E2f5	T	A	3: 14,668,823 (GRCm39)	D238E	probably benign	Het
Etv6	A	G	6: 134,210,497 (GRCm39)	E115G	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Gapvd1	C	T	2: 34,618,747 (GRCm39)	V209I	probably damaging	Het
Gbp8	G	A	5: 105,198,928 (GRCm39)		probably benign	Het
Gprc6a	T	C	10: 51,504,639 (GRCm39)	I68M	probably benign	Het
Grb14	T	C	2: 64,783,966 (GRCm39)	N54D	probably damaging	Het
Gucy2g	A	T	19: 55,226,269 (GRCm39)	F216I	probably benign	Het
Herc2	T	A	7: 55,820,225 (GRCm39)	L2849Q	probably damaging	Het
Hsd17b4	G	T	18: 50,261,381 (GRCm39)		probably benign	Het
Igkv9-129	T	A	6: 67,816,784 (GRCm39)	M3K	probably damaging	Het
Iqcd	A	T	5: 120,740,485 (GRCm39)	E272V	probably damaging	Het
Itih2	A	T	2: 10,111,548 (GRCm39)	Y463*	probably null	Het
Kcna10	G	A	3: 107,102,781 (GRCm39)	E471K	possibly damaging	Het
Klf3	A	T	5: 64,986,347 (GRCm39)	E294V	possibly damaging	Het
Lancl1	A	T	1: 67,060,015 (GRCm39)		probably null	Het
Ldaf1	T	G	7: 119,714,714 (GRCm39)	F68V	probably damaging	Het
Lrig3	T	C	10: 125,846,877 (GRCm39)	F882L	probably benign	Het
Man2c1	A	G	9: 57,046,367 (GRCm39)	N474S	probably damaging	Het
Map4k3	A	G	17: 80,922,444 (GRCm39)		probably null	Het
Mast1	C	A	8: 85,647,520 (GRCm39)	W572C	probably damaging	Het
Mbd4	T	A	6: 115,826,076 (GRCm39)	Q305L	possibly damaging	Het
Mbl2	T	A	19: 30,216,916 (GRCm39)	S243T	probably benign	Het
Mcph1	C	T	8: 18,682,557 (GRCm39)	P565S	probably benign	Het
Mfsd1	G	C	3: 67,507,943 (GRCm39)	V435L	probably benign	Het
Mycbp2	C	T	14: 103,360,881 (GRCm39)	G1183D	probably damaging	Het
Myof	A	G	19: 37,911,426 (GRCm39)	S1502P	probably damaging	Het
Noa1	A	T	5: 77,454,219 (GRCm39)	S474T	probably benign	Het
Nrde2	A	G	12: 100,096,843 (GRCm39)	Y986H	probably benign	Het
Oca2	G	T	7: 56,064,182 (GRCm39)	V726F	possibly damaging	Het
Or2ag13	T	A	7: 106,472,580 (GRCm39)	S291C	probably damaging	Het
Or7a41	A	T	10: 78,871,244 (GRCm39)	M205L	probably benign	Het
Pip5k1a	A	G	3: 94,975,370 (GRCm39)		probably null	Het
Plekhn1	A	T	4: 156,309,730 (GRCm39)		probably null	Het
Sec61a2	T	C	2: 5,887,670 (GRCm39)	D104G	probably benign	Het
Skic3	A	T	13: 76,303,784 (GRCm39)	Y1234F	probably damaging	Het
Slc25a36	T	C	9: 96,967,171 (GRCm39)	T131A	probably benign	Het
Slc5a11	A	T	7: 122,857,700 (GRCm39)	D263V	probably damaging	Het
Sorbs1	T	C	19: 40,384,189 (GRCm39)	I35V	probably benign	Het
Speer3	C	G	5: 13,846,394 (GRCm39)	A238G	possibly damaging	Het
Tbc1d1	T	C	5: 64,331,013 (GRCm39)	V64A	possibly damaging	Het
Ubqlnl	C	T	7: 103,798,925 (GRCm39)	V191M	probably benign	Het
Vmn1r20	A	G	6: 57,409,042 (GRCm39)	M123V	probably benign	Het

Other mutations in Zwint

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01726:Zwint	APN	10	72,493,019 (GRCm39)	critical splice donor site	probably null
IGL02334:Zwint	APN	10	72,490,815 (GRCm39)	splice site	probably null
IGL02936:Zwint	APN	10	72,492,956 (GRCm39)	missense	probably damaging	0.98
R0016:Zwint	UTSW	10	72,493,030 (GRCm39)	unclassified	probably benign
R0016:Zwint	UTSW	10	72,493,030 (GRCm39)	unclassified	probably benign
R0365:Zwint	UTSW	10	72,493,127 (GRCm39)	nonsense	probably null
R1628:Zwint	UTSW	10	72,492,127 (GRCm39)	nonsense	probably null
R4850:Zwint	UTSW	10	72,491,788 (GRCm39)	unclassified	probably benign
R5874:Zwint	UTSW	10	72,492,294 (GRCm39)	intron	probably benign
R6019:Zwint	UTSW	10	72,492,685 (GRCm39)	missense	possibly damaging	0.66
R6181:Zwint	UTSW	10	72,492,431 (GRCm39)	missense	probably benign	0.03
R6333:Zwint	UTSW	10	72,490,784 (GRCm39)	unclassified	probably benign
R7880:Zwint	UTSW	10	72,492,924 (GRCm39)	missense	probably benign	0.06
R9681:Zwint	UTSW	10	72,493,112 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGCGTTTCAGAAGACAGGG -3'
(R):5'- AGAACACGAGTGAGTCATGC -3'

Sequencing Primer
(F):5'- TTTCAGAAGACAGGGGGCGG -3'
(R):5'- TTCCCATGAGGCAGACACAGG -3'

Posted On

2015-07-07