Mutagenetix > Incidental Mutation

Incidental Mutation 'R2877:Kiz'

260589

Institutional Source

Beutler Lab

Gene Symbol

Kiz

Ensembl Gene

ENSMUSG00000074749

Gene Name

kizuna centrosomal protein

Synonyms

Plk1s1, Ncrna00153, LOC228730, Gm114

MMRRC Submission

040465-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2877 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

146697784-146812017 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 146731476 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 322 (V322A)

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: V322A

PolyPhen 2 Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000096884
Gene: ENSMUSG00000074749
AA Change: V322A

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

Meta Mutation Damage Score

0.0739

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

96% (66/69)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	C	5: 109,886,811 (GRCm39)		probably benign	Het
Abca13	C	T	11: 9,241,889 (GRCm39)	L1251F	possibly damaging	Het
Accsl	A	T	2: 93,689,755 (GRCm39)	M384K	probably damaging	Het
Adss1	A	C	12: 112,600,623 (GRCm39)	K197N	probably damaging	Het
Alg11	A	G	8: 22,555,374 (GRCm39)	N170D	possibly damaging	Het
Ambn	T	C	5: 88,608,559 (GRCm39)		probably benign	Het
Anapc7	T	C	5: 122,566,219 (GRCm39)	Y43H	probably benign	Het
Anxa10	T	A	8: 62,513,373 (GRCm39)	I255F	probably damaging	Het
Atg2b	A	T	12: 105,630,268 (GRCm39)	Y374*	probably null	Het
Axl	T	A	7: 25,465,949 (GRCm39)	M563L	probably damaging	Het
Carmil2	A	G	8: 106,422,055 (GRCm39)	E1108G	probably damaging	Het
Casp1	T	C	9: 5,303,110 (GRCm39)	M188T	probably damaging	Het
Chd3	A	T	11: 69,251,998 (GRCm39)	C87*	probably null	Het
Col6a3	G	A	1: 90,703,321 (GRCm39)	T2475I	unknown	Het
Creb3l4	A	T	3: 90,149,615 (GRCm39)	S83R	probably damaging	Het
Cyp2a4	G	A	7: 26,011,612 (GRCm39)	E278K	possibly damaging	Het
Dync1li2	A	C	8: 105,156,047 (GRCm39)	Y265D	probably damaging	Het
Eif3f	G	A	7: 108,534,019 (GRCm39)		probably null	Het
Eipr1	C	T	12: 28,810,091 (GRCm39)	T22I	possibly damaging	Het
Fbxo48	A	G	11: 16,903,382 (GRCm39)	K3E	possibly damaging	Het
Fbxw13	A	G	9: 109,010,534 (GRCm39)	F368S	probably damaging	Het
Fbxw19	A	T	9: 109,315,038 (GRCm39)	W175R	probably damaging	Het
Fibcd1	G	A	2: 31,728,678 (GRCm39)	P60S	probably benign	Het
Foxa3	A	T	7: 18,748,805 (GRCm39)	M107K	probably benign	Het
Foxj2	G	A	6: 122,819,791 (GRCm39)	D560N	probably damaging	Het
Gfm2	A	G	13: 97,289,757 (GRCm39)	R181G	possibly damaging	Het
Gpr25	C	T	1: 136,188,553 (GRCm39)	G20D	possibly damaging	Het
Grin1	A	G	2: 25,187,641 (GRCm39)	V594A	probably damaging	Het
Itpripl1	A	G	2: 126,983,534 (GRCm39)	V196A	probably benign	Het
Kcns1	A	G	2: 164,006,682 (GRCm39)	I427T	probably damaging	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Muc19	T	A	15: 91,777,200 (GRCm39)		noncoding transcript	Het
Naa16	A	G	14: 79,580,738 (GRCm39)	M592T	probably benign	Het
Naa80	A	T	9: 107,460,367 (GRCm39)	E87D	possibly damaging	Het
Ncapd3	T	A	9: 26,955,783 (GRCm39)		probably null	Het
Nebl	C	A	2: 17,439,740 (GRCm39)	D178Y	probably damaging	Het
Nedd1	T	A	10: 92,549,988 (GRCm39)	N99I	possibly damaging	Het
Nuak1	T	C	10: 84,211,209 (GRCm39)	D293G	possibly damaging	Het
Or5b123	A	T	19: 13,596,996 (GRCm39)	I157F	probably damaging	Het
Or5m9b	T	C	2: 85,905,675 (GRCm39)	M197T	possibly damaging	Het
Palb2	A	G	7: 121,713,652 (GRCm39)	V877A	probably damaging	Het
Rassf6	C	T	5: 90,754,664 (GRCm39)	V205I	probably damaging	Het
Rbak	A	G	5: 143,159,860 (GRCm39)	Y398H	probably damaging	Het
Rcbtb1	A	G	14: 59,448,041 (GRCm39)		probably benign	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Smpdl3a	C	A	10: 57,685,181 (GRCm39)	T317K	probably damaging	Het
Speer4e1	C	T	5: 14,987,130 (GRCm39)	V92M	probably damaging	Het
Syne2	A	G	12: 76,047,605 (GRCm39)	I4009V	probably benign	Het
Tarbp1	G	A	8: 127,154,571 (GRCm39)	L1474F	probably damaging	Het
Tchh	A	G	3: 93,351,535 (GRCm39)	E325G	unknown	Het
Trpc4	T	C	3: 54,198,761 (GRCm39)	S562P	probably damaging	Het
Ttn	T	C	2: 76,567,409 (GRCm39)	D27828G	probably damaging	Het
Ulk4	T	C	9: 121,089,105 (GRCm39)	D258G	probably benign	Het
Vmn1r215	A	G	13: 23,260,731 (GRCm39)	H257R	probably benign	Het
Vmn2r56	A	C	7: 12,444,954 (GRCm39)	M433R	probably benign	Het
Vmn2r76	C	A	7: 85,875,201 (GRCm39)	C592F	probably benign	Het
Zcchc8	C	T	5: 123,838,766 (GRCm39)	V591I	probably benign	Het
Znhit6	G	C	3: 145,282,409 (GRCm39)	G96A	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
R0364:Kiz	UTSW	2	146,784,076 (GRCm39)	missense	probably benign	0.20
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
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'- TTCAGACTGGTGAGAAGGCG -3'
(R):5'- TTGAGGACTGAACACTATCAACCC -3'

Sequencing Primer
(F):5'- GCGCCAGTCACAAGCTATGTATTG -3'
(R):5'- AGGATGAAACTCATTAAGTCACTTC -3'

Posted On

2015-01-23