Mutagenetix > Incidental Mutation

Incidental Mutation 'R7475:Kiz'

579395

Institutional Source

Beutler Lab

Gene Symbol

Kiz

Ensembl Gene

ENSMUSG00000074749

Gene Name

kizuna centrosomal protein

Synonyms

Plk1s1, LOC228730, Ncrna00153, Gm114

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7475 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

146855864-146970097 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 146891086 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 394 (V394A)

Ref Sequence

ENSEMBL: ENSMUSP00000096884 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099278] [ENSMUST00000156232]

AlphaFold

Q3UXL4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099278
AA Change: V394A

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000096884
Gene: ENSMUSG00000074749
AA Change: V394A

Domain	Start	End	E-Value	Type
low complexity region	3	11	N/A	INTRINSIC
low complexity region	15	26	N/A	INTRINSIC
low complexity region	60	75	N/A	INTRINSIC
coiled coil region	102	132	N/A	INTRINSIC
low complexity region	302	313	N/A	INTRINSIC
low complexity region	376	399	N/A	INTRINSIC
low complexity region	632	646	N/A	INTRINSIC
low complexity region	679	694	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000156232

SMART Domains

Protein: ENSMUSP00000121952
Gene: ENSMUSG00000074749

Domain	Start	End	E-Value	Type
low complexity region	3	11	N/A	INTRINSIC
low complexity region	15	26	N/A	INTRINSIC
low complexity region	60	75	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (77/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene localizes to centrosomes, strengthening and stabilizing the pericentriolar region prior to spindle formation. The encoded protein usually remains with the mother centrosome after centrosomal duplication. Sevral transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]
PHENOTYPE: Homozygous mutants with truncated C-term transcript were normal size and weight, bred normally with normal litter size, and no obvious defects during fetal or adult development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	G	T	16: 20,399,989	N214K	probably benign	Het
Abcf1	A	G	17: 35,963,567		probably null	Het
Agxt2	A	T	15: 10,409,537	M508L	probably benign	Het
Akr1c21	A	T	13: 4,576,319	Y114F	probably benign	Het
Amz1	T	C	5: 140,744,186		probably null	Het
Ank1	G	T	8: 23,132,630	A1732S	probably benign	Het
Atg16l1	T	C	1: 87,760,083	S50P	possibly damaging	Het
AW551984	A	G	9: 39,597,940	S302P	probably damaging	Het
Ces3a	T	A	8: 105,053,690		probably null	Het
Dedd	C	A	1: 171,340,313	P185Q	probably benign	Het
Fam186a	A	T	15: 99,947,514	V283E	unknown	Het
Fat2	C	A	11: 55,303,653	V1187F	probably benign	Het
Fbxw11	T	C	11: 32,711,999		probably null	Het
Fcgbp	C	T	7: 28,102,976	T1443I	probably damaging	Het
Foxj2	A	G	6: 122,837,842	D279G	probably benign	Het
Gbp5	A	G	3: 142,501,361	D97G	probably damaging	Het
Gm49368	A	T	7: 128,107,982	T661S	possibly damaging	Het
Gria4	T	G	9: 4,513,330	T260P	probably damaging	Het
Gtf2ird2	T	A	5: 134,201,426	D195E	possibly damaging	Het
Hectd4	T	A	5: 121,358,133		probably null	Het
Ifngr2	G	A	16: 91,557,909	C32Y	unknown	Het
Ikzf5	A	T	7: 131,392,059	C280S	probably benign	Het
Ints9	G	T	14: 65,026,465	E395D	probably null	Het
Isoc2b	T	C	7: 4,851,085	D96G	probably benign	Het
Jmjd1c	T	G	10: 67,225,313	S967R	probably benign	Het
Kcnj3	A	T	2: 55,437,326	K42N	probably benign	Het
Knl1	A	T	2: 119,087,546	H1795L	probably damaging	Het
Lmntd2	A	G	7: 141,210,689		probably null	Het
Loxhd1	C	A	18: 77,412,305	D1690E	possibly damaging	Het
Lrp1b	T	C	2: 41,344,576	D1121G		Het
Map3k2	T	C	18: 32,199,962	V63A	possibly damaging	Het
Mcc	G	T	18: 44,476,236	A499D	probably damaging	Het
Mcpt9	T	A	14: 56,026,943	I232F	probably damaging	Het
Meltf	A	G	16: 31,881,938	K92R	probably benign	Het
Mff	T	A	1: 82,745,438		probably null	Het
Mrgpra3	T	A	7: 47,589,947	Y77F	probably damaging	Het
Mylk	G	A	16: 34,914,076		probably null	Het
Ndufv2	A	G	17: 66,087,537	V111A	possibly damaging	Het
Nkd2	T	C	13: 73,825,742	E99G	probably damaging	Het
Nlk	C	A	11: 78,583,399	G358V	probably damaging	Het
Nnmt	A	T	9: 48,592,232	C165S	probably damaging	Het
Nxpe4	T	A	9: 48,393,340	C242*	probably null	Het
Oas1b	A	T	5: 120,817,640	N162I	probably damaging	Het
Olfr1191-ps1	A	G	2: 88,643,210	I148V	probably benign	Het
Otog	A	G	7: 46,267,276	N879S	probably damaging	Het
Park2	A	G	17: 11,434,614	D199G	probably benign	Het
Pcsk7	T	A	9: 45,927,625	Y612N	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Pgbd5	T	C	8: 124,434,011	D39G	probably benign	Het
Pkhd1l1	C	T	15: 44,505,185	Q800*	probably null	Het
Pkn3	T	C	2: 30,087,110	S621P	probably benign	Het
Polr3c	T	C	3: 96,715,185	I385V	probably benign	Het
Ppp1r21	G	T	17: 88,555,603	G257W	probably benign	Het
Pxylp1	C	T	9: 96,856,367		probably null	Het
Rasgrp1	T	C	2: 117,286,108	T613A	probably benign	Het
Robo3	C	T	9: 37,425,378	V387I	probably benign	Het
Rxfp2	T	A	5: 150,049,581	Y174N	possibly damaging	Het
Sec24a	T	C	11: 51,713,552	M746V	probably damaging	Het
Sema4f	T	A	6: 82,914,374	E571D	possibly damaging	Het
Sept3	T	C	15: 82,286,456	V217A	probably benign	Het
Serpinb1b	A	C	13: 33,093,565	K260N	probably benign	Het
Sin3b	A	G	8: 72,749,872	T645A	possibly damaging	Het
Sobp	C	T	10: 43,021,834	R585Q	probably damaging	Het
Specc1l	T	A	10: 75,246,447	L559Q	possibly damaging	Het
Srxn1	C	T	2: 152,105,653		probably benign	Het
Sspo	G	A	6: 48,455,860	R890Q	probably benign	Het
Stard9	A	G	2: 120,688,110	D505G	probably damaging	Het
Tjp1	A	T	7: 65,322,339	I653K	probably damaging	Het
Tnks	C	T	8: 34,831,712	E1296K	probably damaging	Het
Ttbk2	A	T	2: 120,748,640	I667N	probably benign	Het
Usp24	T	C	4: 106,342,353	S165P	possibly damaging	Het
Usp46	T	A	5: 74,028,937	K109*	probably null	Het
Vmn1r191	A	G	13: 22,178,772	C271R	probably benign	Het
Wisp3	T	A	10: 39,158,300	Y102F	probably damaging	Het
Zfp592	T	C	7: 81,023,452	S55P	probably damaging	Het
Zmynd15	T	C	11: 70,461,041	S158P	probably benign	Het
Zscan22	T	G	7: 12,906,737	C303G	probably damaging	Het

Other mutations in Kiz

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01448:Kiz	APN	2	146863801	missense	probably benign	0.22
IGL01649:Kiz	APN	2	146889309	missense	probably benign	0.35
IGL02184:Kiz	APN	2	146889600	missense	probably benign	0.20
IGL02500:Kiz	APN	2	146863813	missense	probably benign	0.06
IGL02548:Kiz	APN	2	146870770	missense	probably damaging	0.99
R0284:Kiz	UTSW	2	146863810	missense	probably benign	0.22
R0364:Kiz	UTSW	2	146942156	missense	probably benign	0.20
R0478:Kiz	UTSW	2	146942158	missense	possibly damaging	0.93
R0685:Kiz	UTSW	2	146856058	splice site	probably benign
R0767:Kiz	UTSW	2	146889051	missense	probably damaging	1.00
R0866:Kiz	UTSW	2	146856053	splice site	probably benign
R1180:Kiz	UTSW	2	146970007	missense	unknown
R2037:Kiz	UTSW	2	146969960	missense	probably damaging	1.00
R2055:Kiz	UTSW	2	146891283	missense	probably benign	0.10
R2877:Kiz	UTSW	2	146889556	missense	possibly damaging	0.75
R4780:Kiz	UTSW	2	146889246	missense	possibly damaging	0.90
R4822:Kiz	UTSW	2	146891069	missense	probably damaging	1.00
R4835:Kiz	UTSW	2	146942088	missense	probably damaging	1.00
R5004:Kiz	UTSW	2	146969979	missense	possibly damaging	0.83
R5473:Kiz	UTSW	2	146969995	nonsense	probably null
R5878:Kiz	UTSW	2	146889601	missense	probably damaging	0.99
R6216:Kiz	UTSW	2	146889497	missense	probably damaging	1.00
R6222:Kiz	UTSW	2	146891061	missense	probably damaging	1.00
R7144:Kiz	UTSW	2	146950510	splice site	probably null
R7580:Kiz	UTSW	2	146956249	missense	probably damaging	0.99
R7848:Kiz	UTSW	2	146889180	missense	probably benign	0.19
R8395:Kiz	UTSW	2	146953029	missense	possibly damaging	0.79
R8513:Kiz	UTSW	2	146870764	critical splice acceptor site	probably null
R8933:Kiz	UTSW	2	146942117	missense
R9146:Kiz	UTSW	2	146863820	missense	probably benign	0.39
R9352:Kiz	UTSW	2	146953007	missense	probably damaging	0.99
RF021:Kiz	UTSW	2	146870830	missense	possibly damaging	0.74
Z1177:Kiz	UTSW	2	146935827	missense	possibly damaging	0.59

Predicted Primers

PCR Primer
(F):5'- AAATTCTGTTCTGTGTTCCTTGGAC -3'
(R):5'- GTGGGATGAACTCTAAAAGACATGTAC -3'

Sequencing Primer
(F):5'- GGACTCTCAGAATTTTGTGACCAGC -3'
(R):5'- AAAAGAATGGCTTACTGTCTTGGTG -3'

Posted On

2019-10-07