Mutagenetix > Incidental Mutation

Incidental Mutation 'R6216:Kiz'

503695

Institutional Source

Beutler Lab

Gene Symbol

Kiz

Ensembl Gene

ENSMUSG00000074749

Gene Name

kizuna centrosomal protein

Synonyms

Plk1s1, LOC228730, Ncrna00153, Gm114

MMRRC Submission

044349-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6216 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

146855864-146970097 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 146889497 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 302 (D302E)

Ref Sequence

ENSEMBL: ENSMUSP00000096884 (fasta)

Gene Model

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

AlphaFold

Q3UXL4

Predicted Effect

probably damaging
Transcript: ENSMUST00000099278
AA Change: D302E

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

SMART Domains

Protein: ENSMUSP00000096884
Gene: ENSMUSG00000074749
AA Change: D302E

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: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

97% (67/69)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	T	C	9: 57,257,627	D488G	probably benign	Het
Adgrv1	C	A	13: 81,524,471		probably null	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Alkbh3	G	A	2: 94,008,536		probably benign	Het
Ankrd22	A	T	19: 34,124,169		probably null	Het
Anks1b	A	G	10: 90,260,756	D425G	probably damaging	Het
Arid2	A	G	15: 96,356,909	D212G	probably benign	Het
Bbx	A	T	16: 50,251,388	S225T	probably benign	Het
Bivm	T	A	1: 44,126,868		probably null	Het
Bpifb3	A	G	2: 153,925,853	Y282C	probably benign	Het
Cacna1h	A	T	17: 25,378,819	I1767N	probably damaging	Het
Ccdc28a	G	T	10: 18,224,971	S36*	probably null	Het
Ccser2	A	G	14: 36,940,508	S240P	probably damaging	Het
Ceacam1	A	T	7: 25,471,996	S348T	probably benign	Het
Ddx49	C	T	8: 70,297,284	G161D	probably damaging	Het
Dhx16	A	G	17: 35,882,972	E353G	possibly damaging	Het
Etv2	A	G	7: 30,634,611		probably null	Het
Extl1	T	C	4: 134,363,130	T345A	probably benign	Het
Fam163a	A	T	1: 156,078,995	S137T	probably benign	Het
Fermt2	A	T	14: 45,459,881	M671K	possibly damaging	Het
Fsd1l	T	C	4: 53,694,742	C388R	probably damaging	Het
Galnt18	A	C	7: 111,513,550	V470G	probably benign	Het
Grin2b	T	A	6: 135,772,399	I602F	probably damaging	Het
Gucy1b1	G	T	3: 82,046,713		probably null	Het
Hace1	T	C	10: 45,618,547	V151A	probably benign	Het
Hadhb	T	A	5: 30,174,931	D258E	probably benign	Het
Heatr1	C	T	13: 12,432,664	T1746I	probably benign	Het
Hrnr	T	C	3: 93,332,162	S3236P	unknown	Het
Kcnd1	G	C	X: 7,823,909	A23P	probably damaging	Homo
Kng2	A	T	16: 22,987,593	W619R	probably damaging	Het
Mfap3l	C	A	8: 60,671,807	T361K	probably damaging	Het
Mlec	T	C	5: 115,150,317	H160R	probably benign	Het
Myo16	T	C	8: 10,315,494	L89P	probably benign	Het
Neb	T	C	2: 52,224,552	I4232V	probably benign	Het
Nf1	A	G	11: 79,411,607	I334V	possibly damaging	Het
Nipbl	A	C	15: 8,318,383	F1942V	probably damaging	Het
Olfr1205	T	C	2: 88,831,311	S65P	probably damaging	Het
Olfr1242	C	A	2: 89,493,722	V197F	probably damaging	Het
Olfr642	A	G	7: 104,049,695	Y220H	probably damaging	Het
Olfr699	A	T	7: 106,790,458	I181N	probably benign	Het
Pabpc2	G	T	18: 39,774,719	A346S	probably damaging	Het
Paxip1	T	C	5: 27,766,173	T393A	unknown	Het
Pcdhgb5	A	T	18: 37,731,928	T259S	probably benign	Het
Pfkp	A	T	13: 6,619,188	L253H	probably benign	Het
Piezo1	T	C	8: 122,489,130	D1428G	probably benign	Het
Pih1d3	A	T	1: 31,223,351	D138V	probably damaging	Het
Pkd1l2	T	G	8: 117,081,470	D105A	probably damaging	Het
Pou2f1	G	T	1: 165,880,320		probably benign	Het
Ppfia4	T	C	1: 134,329,183	E100G	probably damaging	Het
Ppp1r15a	G	T	7: 45,524,022	T454K	probably damaging	Het
Prpsap1	A	T	11: 116,471,413	I381N	probably damaging	Het
Ptx3	T	A	3: 66,224,844	V262E	probably damaging	Het
Rab21	A	T	10: 115,294,926	H158Q	probably benign	Het
Rasa2	A	G	9: 96,544,304	S830P	probably damaging	Het
Rdh1	G	A	10: 127,764,753	S215N	probably benign	Het
Rhot1	G	A	11: 80,251,059	R463H	probably benign	Het
Rsf1	CG	CGACGGCGGGG	7: 97,579,908		probably benign	Het
Sart3	C	T	5: 113,743,206	A938T	probably benign	Het
Selenom	A	T	11: 3,514,915		probably benign	Het
Selenop	T	C	15: 3,279,465	C300R	probably damaging	Het
Skint1	T	A	4: 112,021,482	S204T	probably benign	Het
Ss18l1	A	G	2: 180,061,913	N313S	unknown	Het
Sycp2l	A	G	13: 41,141,724	D289G	probably damaging	Het
Terf1	C	T	1: 15,818,997	H188Y	probably benign	Het
Tmem116	C	T	5: 121,491,108	T188M	probably benign	Het
Trdn	A	G	10: 33,305,069	T357A	probably damaging	Het
Trip11	A	C	12: 101,890,600	M401R	probably benign	Het
Ubald2	A	C	11: 116,434,385	D26A	probably benign	Het
Ube2w	C	G	1: 16,619,284		probably benign	Het
Vmn2r101	T	A	17: 19,591,005	S450R	probably benign	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
R6222:Kiz	UTSW	2	146891061	missense	probably damaging	1.00
R7144:Kiz	UTSW	2	146950510	splice site	probably null
R7475:Kiz	UTSW	2	146891086	missense	possibly damaging	0.90
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'- CATGGAAAGACATCTCTTCAGACTG -3'
(R):5'- AAACTCGGTCTGTCATCTCACC -3'

Sequencing Primer
(F):5'- CATCTCTTCAGACTGGTGAGAAGGC -3'
(R):5'- GTCTGTCATCTCACCTGAGGAAG -3'

Posted On

2018-02-27