Mutagenetix > Incidental Mutation

Incidental Mutation 'R0284:Kiz'

24585

Institutional Source

Beutler Lab

Gene Symbol

Kiz

Ensembl Gene

ENSMUSG00000074749

Gene Name

kizuna centrosomal protein

Synonyms

Plk1s1, Ncrna00153, LOC228730, Gm114

MMRRC Submission

038505-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0284 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

146697784-146812017 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 146705730 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 97 (C97S)

Ref Sequence

ENSEMBL: ENSMUSP00000121952 (fasta)

Gene Model

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

AlphaFold

Q3UXL4

Predicted Effect

probably benign
Transcript: ENSMUST00000099278
AA Change: C97S

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000096884
Gene: ENSMUSG00000074749
AA Change: C97S

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
AA Change: C97S

PolyPhen 2 Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000121952
Gene: ENSMUSG00000074749
AA Change: C97S

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

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.9%
20x: 92.4%

Validation Efficiency

100% (61/61)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkbh6	A	G	7: 30,013,413 (GRCm39)	T161A	probably benign	Het
Alox12e	A	G	11: 70,211,725 (GRCm39)		probably benign	Het
Ap1g2	A	G	14: 55,339,149 (GRCm39)		probably benign	Het
Arid2	A	T	15: 96,276,848 (GRCm39)		probably benign	Het
Bmp2k	A	T	5: 97,216,314 (GRCm39)	H604L	unknown	Het
Cacna1a	A	T	8: 85,338,914 (GRCm39)	M1705L	probably damaging	Het
Cacna1d	A	T	14: 29,794,062 (GRCm39)	D1526E	probably damaging	Het
Ccdc171	A	G	4: 83,467,975 (GRCm39)	R107G	possibly damaging	Het
Cklf	T	C	8: 104,988,207 (GRCm39)		probably benign	Het
Crabp1	A	G	9: 54,672,210 (GRCm39)	K9E	probably benign	Het
Cspg4	A	G	9: 56,793,423 (GRCm39)	D386G	probably damaging	Het
Cyp3a41b	G	A	5: 145,515,014 (GRCm39)		probably benign	Het
Dsg1a	T	A	18: 20,464,684 (GRCm39)	V393E	probably damaging	Het
Ednrb	C	T	14: 104,057,449 (GRCm39)	G371D	probably damaging	Het
Efcab5	T	C	11: 76,994,353 (GRCm39)		probably benign	Het
Exoc2	A	T	13: 31,061,608 (GRCm39)		probably benign	Het
Fbn2	G	A	18: 58,183,362 (GRCm39)		probably benign	Het
Foxo6	T	C	4: 120,126,199 (GRCm39)	S199G	probably benign	Het
Fpr1	T	A	17: 18,097,618 (GRCm39)	I124F	probably damaging	Het
Gk5	A	T	9: 96,063,823 (GRCm39)		probably null	Het
Gys1	A	T	7: 45,086,143 (GRCm39)		probably benign	Het
Igfbp1	T	C	11: 7,148,103 (GRCm39)	S49P	probably damaging	Het
Incenp	A	T	19: 9,871,357 (GRCm39)	S91T	unknown	Het
Itpkc	G	A	7: 26,913,968 (GRCm39)	R498*	probably null	Het
Kat6a	A	G	8: 23,429,819 (GRCm39)	T1725A	unknown	Het
Kri1	A	G	9: 21,187,848 (GRCm39)		probably benign	Het
Lipn	A	G	19: 34,058,106 (GRCm39)	S276G	possibly damaging	Het
Llgl1	A	G	11: 60,602,967 (GRCm39)	T881A	probably damaging	Het
Man1a2	T	C	3: 100,592,102 (GRCm39)	H26R	probably damaging	Het
Map3k5	T	A	10: 19,876,359 (GRCm39)	F173I	probably damaging	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Mipol1	A	G	12: 57,503,855 (GRCm39)	Q341R	probably damaging	Het
Mllt6	G	T	11: 97,569,431 (GRCm39)	A928S	probably benign	Het
Ncoa6	TGC	TGCGC	2: 155,250,211 (GRCm39)		probably null	Het
Nipsnap3a	C	T	4: 52,997,178 (GRCm39)	T150I	probably benign	Het
Nsl1	A	G	1: 190,797,427 (GRCm39)	E97G	probably damaging	Het
Or11j4	G	A	14: 50,630,452 (GRCm39)	V80M	probably damaging	Het
Or4f54	T	C	2: 111,122,931 (GRCm39)	V106A	probably benign	Het
Or7g18	A	T	9: 18,786,848 (GRCm39)	Y72F	probably benign	Het
Or8c11	G	A	9: 38,289,880 (GRCm39)	M234I	probably benign	Het
Pakap	T	C	4: 57,855,207 (GRCm39)	F220L	probably damaging	Het
Pdcd6ip	A	G	9: 113,491,572 (GRCm39)	L552S	probably damaging	Het
Plekhf2	T	C	4: 10,990,595 (GRCm39)		probably benign	Het
Prdm1	T	C	10: 44,332,622 (GRCm39)	E96G	probably damaging	Het
Prpf40a	T	A	2: 53,040,659 (GRCm39)	E608D	probably damaging	Het
Prpf40b	A	T	15: 99,214,274 (GRCm39)		probably benign	Het
Rag2	T	C	2: 101,460,464 (GRCm39)	V258A	probably damaging	Het
S100a5	A	G	3: 90,518,881 (GRCm39)	I68V	probably benign	Het
Serpinb8	G	A	1: 107,530,648 (GRCm39)		probably null	Het
Slc24a4	T	C	12: 102,226,740 (GRCm39)	V492A	probably damaging	Het
Spag6l	T	A	16: 16,598,630 (GRCm39)	Q287L	probably damaging	Het
Spmip6	T	G	4: 41,507,538 (GRCm39)	E150A	probably damaging	Het
Synpo2	C	T	3: 122,873,383 (GRCm39)	W211*	probably null	Het
Tgtp1	A	G	11: 48,877,970 (GRCm39)	V245A	probably benign	Het
Tmem144	G	A	3: 79,746,580 (GRCm39)		probably benign	Het
Trerf1	A	G	17: 47,630,471 (GRCm39)		noncoding transcript	Het
Ttn	G	C	2: 76,677,048 (GRCm39)		probably benign	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Vps13d	A	T	4: 144,871,372 (GRCm39)	M1900K	probably benign	Het
Vps41	A	T	13: 19,037,610 (GRCm39)	D691V	probably damaging	Het
Zfp518b	T	C	5: 38,829,083 (GRCm39)	Y974C	probably damaging	Het
Zscan29	A	T	2: 120,997,214 (GRCm39)		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
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
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'- AACCCATGTGTCTGGGAATGCTG -3'
(R):5'- AATGGACTCCTGCCCTGAAGAGAG -3'

Sequencing Primer
(F):5'- CCTGAAGGAAGTATGTGAGTCTGA -3'
(R):5'- CCTGAAGAGAGCAGCCCAG -3'

Posted On

2013-04-16