Mutagenetix > Incidental Mutation

Incidental Mutation 'R0364:Kiz'

30221

Institutional Source

Beutler Lab

Gene Symbol

Kiz

Ensembl Gene

ENSMUSG00000074749

Gene Name

kizuna centrosomal protein

Synonyms

Plk1s1, Ncrna00153, LOC228730, Gm114

MMRRC Submission

038570-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0364 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

146697784-146812017 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 146784076 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 536 (S536R)

Ref Sequence

ENSEMBL: ENSMUSP00000096884 (fasta)

Gene Model

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

AlphaFold

Q3UXL4

Predicted Effect

probably benign
Transcript: ENSMUST00000099278
AA Change: S536R

PolyPhen 2 Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000096884
Gene: ENSMUSG00000074749
AA Change: S536R

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

Meta Mutation Damage Score

0.0962

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.3%
20x: 89.3%

Validation Efficiency

99% (86/87)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp7	G	A	7: 28,310,553 (GRCm39)		probably benign	Het
Ano7	A	G	1: 93,316,380 (GRCm39)	D221G	probably benign	Het
Arhgef12	A	T	9: 42,929,697 (GRCm39)	N199K	probably damaging	Het
Arpc2	A	G	1: 74,276,046 (GRCm39)	N26S	probably null	Het
Camta2	G	A	11: 70,574,136 (GRCm39)	T127I	probably damaging	Het
Ccdc13	T	A	9: 121,627,282 (GRCm39)	N665I	probably damaging	Het
Ccdc178	C	T	18: 22,048,119 (GRCm39)	R757H	probably damaging	Het
Cfap52	A	C	11: 67,844,436 (GRCm39)	I93S	possibly damaging	Het
Cmklr1	A	T	5: 113,752,578 (GRCm39)	L141H	probably damaging	Het
Crybb3	T	A	5: 113,223,819 (GRCm39)	I197F	probably damaging	Het
Cryzl1	G	A	16: 91,504,155 (GRCm39)	P97S	probably benign	Het
Cubn	T	C	2: 13,315,318 (GRCm39)		probably benign	Het
Cyp2d37-ps	T	C	15: 82,574,253 (GRCm39)		noncoding transcript	Het
Cyp4a12b	C	A	4: 115,290,117 (GRCm39)	N223K	probably benign	Het
Dennd2a	T	C	6: 39,485,233 (GRCm39)	T349A	probably benign	Het
Dnah12	A	G	14: 26,445,628 (GRCm39)	T730A	probably benign	Het
Dock5	G	A	14: 68,060,129 (GRCm39)		probably benign	Het
Dync2i1	A	G	12: 116,221,097 (GRCm39)		probably benign	Het
Elac2	A	G	11: 64,870,136 (GRCm39)	Y67C	probably damaging	Het
Elmo1	A	T	13: 20,748,663 (GRCm39)	K503*	probably null	Het
Endou	A	T	15: 97,616,854 (GRCm39)		probably benign	Het
Eng	T	C	2: 32,569,149 (GRCm39)	S559P	probably benign	Het
Epc2	T	A	2: 49,427,145 (GRCm39)	V563E	possibly damaging	Het
Fbxw17	T	C	13: 50,586,477 (GRCm39)	S40P	possibly damaging	Het
Flt4	A	T	11: 49,527,818 (GRCm39)	M924L	probably benign	Het
Fyb1	A	G	15: 6,610,272 (GRCm39)	K282E	probably damaging	Het
Gabpa	T	A	16: 84,654,275 (GRCm39)	N317K	possibly damaging	Het
Gli3	G	T	13: 15,899,349 (GRCm39)	G912V	probably benign	Het
Gm10295	C	A	7: 71,000,361 (GRCm39)	C73F	unknown	Het
Gm10382	G	T	5: 125,466,728 (GRCm39)		probably benign	Het
Gp1ba	T	C	11: 70,531,284 (GRCm39)		probably benign	Het
Gpr146	G	A	5: 139,364,933 (GRCm39)		probably benign	Het
Grm5	A	G	7: 87,723,594 (GRCm39)	Y628C	probably damaging	Het
Hexa	A	G	9: 59,471,218 (GRCm39)	N491D	probably benign	Het
Hexd	T	A	11: 121,102,969 (GRCm39)	H62Q	probably benign	Het
Hpx	G	T	7: 105,245,471 (GRCm39)	Q101K	probably benign	Het
Ino80	G	A	2: 119,213,441 (GRCm39)	R1249C	probably damaging	Het
Inpp4b	A	T	8: 82,723,943 (GRCm39)	T492S	probably benign	Het
Iqgap2	A	C	13: 95,867,783 (GRCm39)		probably benign	Het
Islr2	T	C	9: 58,107,027 (GRCm39)	T78A	possibly damaging	Het
Itga9	A	G	9: 118,670,210 (GRCm39)	T177A	probably benign	Het
Itpkc	A	C	7: 26,927,174 (GRCm39)	S247A	possibly damaging	Het
Kirrel1	T	C	3: 86,997,106 (GRCm39)	Y287C	probably damaging	Het
Klhl9	T	G	4: 88,638,527 (GRCm39)	K571N	probably benign	Het
Kprp	A	T	3: 92,731,642 (GRCm39)	Y469*	probably null	Het
Ksr1	A	T	11: 78,919,851 (GRCm39)		probably benign	Het
Lrrc37a	C	T	11: 103,391,466 (GRCm39)	V1320I	possibly damaging	Het
Ltf	A	T	9: 110,854,235 (GRCm39)	N350I	probably benign	Het
Msl3l2	G	A	10: 55,991,947 (GRCm39)	R224Q	possibly damaging	Het
Myh6	A	T	14: 55,185,804 (GRCm39)	Y1490*	probably null	Het
Necap1	A	G	6: 122,857,728 (GRCm39)		probably benign	Het
Nf1	A	T	11: 79,332,783 (GRCm39)	K810*	probably null	Het
Nkx6-3	A	G	8: 23,647,722 (GRCm39)	E227G	possibly damaging	Het
Nlrp1a	T	A	11: 71,004,830 (GRCm39)		probably benign	Het
Obscn	G	A	11: 59,019,107 (GRCm39)	A969V	probably benign	Het
Or11a4	T	C	17: 37,536,934 (GRCm39)	L306P	possibly damaging	Het
Or7g32	G	A	9: 19,389,268 (GRCm39)	Q90*	probably null	Het
Or8b40	A	G	9: 38,027,325 (GRCm39)	T78A	probably benign	Het
Or8k33	A	T	2: 86,384,123 (GRCm39)	L115Q	probably damaging	Het
Pcdhb17	C	A	18: 37,618,888 (GRCm39)	A226E	possibly damaging	Het
Phldb1	A	T	9: 44,610,632 (GRCm39)		probably benign	Het
Plekha5	G	A	6: 140,537,473 (GRCm39)	R646K	possibly damaging	Het
Pon2	G	A	6: 5,266,156 (GRCm39)	Q288*	probably null	Het
Prr14	G	A	7: 127,073,751 (GRCm39)	R205H	probably benign	Het
Ptpn13	C	A	5: 103,681,214 (GRCm39)	R805S	probably damaging	Het
Pyroxd2	A	T	19: 42,735,992 (GRCm39)	V62D	probably damaging	Het
Rab37	G	T	11: 115,047,790 (GRCm39)	C44F	probably damaging	Het
Rbm44	T	C	1: 91,080,069 (GRCm39)	S52P	probably benign	Het
Rusf1	C	T	7: 127,889,786 (GRCm39)	R1H	probably damaging	Het
Scn5a	T	C	9: 119,351,665 (GRCm39)	D772G	probably damaging	Het
Slc7a5	A	G	8: 122,611,754 (GRCm39)	F425L	probably benign	Het
Slk	T	A	19: 47,608,628 (GRCm39)	L527*	probably null	Het
Stpg4	T	A	17: 87,697,142 (GRCm39)		probably null	Het
Taar6	C	A	10: 23,861,046 (GRCm39)	V167L	probably benign	Het
Tas2r123	T	A	6: 132,824,644 (GRCm39)	S180R	probably benign	Het
Tmc2	C	T	2: 130,044,023 (GRCm39)	R86W	probably benign	Het
Tmem200c	T	A	17: 69,147,543 (GRCm39)	V42E	probably damaging	Het
Trhde	T	C	10: 114,338,887 (GRCm39)		probably benign	Het
Tshz1	A	T	18: 84,034,249 (GRCm39)	I53N	probably benign	Het
Tshz3	A	G	7: 36,469,958 (GRCm39)	E649G	probably benign	Het
Ttll7	C	A	3: 146,650,936 (GRCm39)	R719S	possibly damaging	Het
Utp4	T	C	8: 107,625,169 (GRCm39)		probably benign	Het
Vmn1r35	A	G	6: 66,655,827 (GRCm39)	I281T	probably damaging	Het
Vps39	T	G	2: 120,176,119 (GRCm39)	K76T	probably damaging	Het
Whamm	A	G	7: 81,243,799 (GRCm39)	T674A	probably benign	Het
Zbtb16	A	G	9: 48,654,876 (GRCm39)		probably benign	Het
Zfp623	T	C	15: 75,820,510 (GRCm39)	S489P	probably benign	Het

Other mutations in Kiz

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01448:Kiz	APN	2	146,705,721 (GRCm39)	missense	probably benign	0.22
IGL01649:Kiz	APN	2	146,731,229 (GRCm39)	missense	probably benign	0.35
IGL02184:Kiz	APN	2	146,731,520 (GRCm39)	missense	probably benign	0.20
IGL02500:Kiz	APN	2	146,705,733 (GRCm39)	missense	probably benign	0.06
IGL02548:Kiz	APN	2	146,712,690 (GRCm39)	missense	probably damaging	0.99
R0284:Kiz	UTSW	2	146,705,730 (GRCm39)	missense	probably benign	0.22
R0478:Kiz	UTSW	2	146,784,078 (GRCm39)	missense	possibly damaging	0.93
R0685:Kiz	UTSW	2	146,697,978 (GRCm39)	splice site	probably benign
R0767:Kiz	UTSW	2	146,730,971 (GRCm39)	missense	probably damaging	1.00
R0866:Kiz	UTSW	2	146,697,973 (GRCm39)	splice site	probably benign
R1180:Kiz	UTSW	2	146,811,927 (GRCm39)	missense	unknown
R2037:Kiz	UTSW	2	146,811,880 (GRCm39)	missense	probably damaging	1.00
R2055:Kiz	UTSW	2	146,733,203 (GRCm39)	missense	probably benign	0.10
R2877:Kiz	UTSW	2	146,731,476 (GRCm39)	missense	possibly damaging	0.75
R4780:Kiz	UTSW	2	146,731,166 (GRCm39)	missense	possibly damaging	0.90
R4822:Kiz	UTSW	2	146,732,989 (GRCm39)	missense	probably damaging	1.00
R4835:Kiz	UTSW	2	146,784,008 (GRCm39)	missense	probably damaging	1.00
R5004:Kiz	UTSW	2	146,811,899 (GRCm39)	missense	possibly damaging	0.83
R5473:Kiz	UTSW	2	146,811,915 (GRCm39)	nonsense	probably null
R5878:Kiz	UTSW	2	146,731,521 (GRCm39)	missense	probably damaging	0.99
R6216:Kiz	UTSW	2	146,731,417 (GRCm39)	missense	probably damaging	1.00
R6222:Kiz	UTSW	2	146,732,981 (GRCm39)	missense	probably damaging	1.00
R7144:Kiz	UTSW	2	146,792,430 (GRCm39)	splice site	probably null
R7475:Kiz	UTSW	2	146,733,006 (GRCm39)	missense	possibly damaging	0.90
R7580:Kiz	UTSW	2	146,798,169 (GRCm39)	missense	probably damaging	0.99
R7848:Kiz	UTSW	2	146,731,100 (GRCm39)	missense	probably benign	0.19
R8395:Kiz	UTSW	2	146,794,949 (GRCm39)	missense	possibly damaging	0.79
R8513:Kiz	UTSW	2	146,712,684 (GRCm39)	critical splice acceptor site	probably null
R8933:Kiz	UTSW	2	146,784,037 (GRCm39)	missense
R9146:Kiz	UTSW	2	146,705,740 (GRCm39)	missense	probably benign	0.39
R9352:Kiz	UTSW	2	146,794,927 (GRCm39)	missense	probably damaging	0.99
RF021:Kiz	UTSW	2	146,712,750 (GRCm39)	missense	possibly damaging	0.74
Z1177:Kiz	UTSW	2	146,777,747 (GRCm39)	missense	possibly damaging	0.59

Predicted Primers

PCR Primer
(F):5'- GTGCTTTCTTTGAAACACTGTAGGCAAC -3'
(R):5'- CATCTCCACAGCCACTTGAAACTTCTAA -3'

Sequencing Primer
(F):5'- ACACTGTAGGCAACAACATTATTG -3'
(R):5'- gccatactaagccatctctcc -3'

Posted On

2013-04-24