Mutagenetix > Incidental Mutation

Incidental Mutation 'R6222:Kiz'

504067

Institutional Source

Beutler Lab

Gene Symbol

Kiz

Ensembl Gene

ENSMUSG00000074749

Gene Name

kizuna centrosomal protein

Synonyms

Plk1s1, Ncrna00153, LOC228730, Gm114

MMRRC Submission

044353-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6222 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

146697784-146812017 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 146732981 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 386 (S386C)

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: S386C

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

SMART Domains

Protein: ENSMUSP00000096884
Gene: ENSMUSG00000074749
AA Change: S386C

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: 99.2%
20x: 97.6%

Validation Efficiency

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	T	C	14: 35,531,923 (GRCm39)	*217W	probably null	Het
Abcc3	A	G	11: 94,259,431 (GRCm39)	F337L	probably benign	Het
Abcc4	T	A	14: 118,767,368 (GRCm39)	H903L	probably damaging	Het
Akap7	T	A	10: 25,159,844 (GRCm39)	K119*	probably null	Het
Als2	T	C	1: 59,219,284 (GRCm39)	D1222G	probably benign	Het
Ano4	T	C	10: 88,863,084 (GRCm39)	Y296C	probably damaging	Het
Arid1b	A	G	17: 5,377,922 (GRCm39)		probably null	Het
Arl10	T	C	13: 54,726,644 (GRCm39)	F141L	probably damaging	Het
B130006D01Rik	T	C	11: 95,616,988 (GRCm39)		probably benign	Het
Bbs9	T	A	9: 22,479,147 (GRCm39)	S197T	possibly damaging	Het
Bicd1	A	T	6: 149,414,463 (GRCm39)	D392V	probably damaging	Het
Bmi1	T	A	2: 18,688,513 (GRCm39)	M168K	possibly damaging	Het
C7	A	T	15: 5,041,423 (GRCm39)	D494E	possibly damaging	Het
Cacna1s	A	T	1: 136,032,360 (GRCm39)	N1221I	probably benign	Het
Cacng7	A	G	7: 3,385,128 (GRCm39)	T10A	probably damaging	Het
Ccdc13	A	G	9: 121,627,975 (GRCm39)		probably benign	Het
Cdpf1	T	C	15: 85,691,643 (GRCm39)	R108G	possibly damaging	Het
Ceacam5	A	T	7: 17,479,472 (GRCm39)	K196N	probably benign	Het
Cftr	A	C	6: 18,282,500 (GRCm39)	T1067P	probably benign	Het
Cma2	T	C	14: 56,210,649 (GRCm39)	I112T	possibly damaging	Het
Cntnap4	A	G	8: 113,569,353 (GRCm39)	S916G	probably damaging	Het
Cwf19l2	T	A	9: 3,454,569 (GRCm39)	Y627*	probably null	Het
Fam204a	A	G	19: 60,188,400 (GRCm39)		probably null	Het
Galnt1	T	A	18: 24,397,591 (GRCm39)		probably null	Het
Gbe1	T	C	16: 70,325,900 (GRCm39)		probably null	Het
Gm6871	C	T	7: 41,196,006 (GRCm39)	D244N	probably damaging	Het
Gna15	T	C	10: 81,347,880 (GRCm39)	T189A	probably damaging	Het
Igsf10	C	T	3: 59,226,336 (GRCm39)	D2446N	possibly damaging	Het
Ing2	T	C	8: 48,121,966 (GRCm39)	K194R	possibly damaging	Het
Ino80d	G	A	1: 63,097,684 (GRCm39)	H737Y	probably damaging	Het
Izumo4	C	T	10: 80,538,885 (GRCm39)	R83W	probably damaging	Het
Kcnt1	G	A	2: 25,782,522 (GRCm39)	V219M	probably damaging	Het
Ldlrap1	C	T	4: 134,484,671 (GRCm39)	E108K	probably damaging	Het
Nol11	G	T	11: 107,062,442 (GRCm39)	T598K	possibly damaging	Het
Or2ad1	T	C	13: 21,327,047 (GRCm39)	Y60C	probably damaging	Het
Or4c100	T	C	2: 88,329,614 (GRCm39)	Y62H	probably benign	Het
Pdzd2	T	C	15: 12,374,652 (GRCm39)	K1828E	probably damaging	Het
Prl3a1	T	C	13: 27,460,097 (GRCm39)	F194L	probably benign	Het
Prss1l	A	T	6: 41,374,100 (GRCm39)	Y234F	probably damaging	Het
Reg1	A	T	6: 78,404,357 (GRCm39)	Q77L	probably benign	Het
Ruvbl2	G	T	7: 45,074,149 (GRCm39)	D248E	probably damaging	Het
Sart3	C	T	5: 113,881,267 (GRCm39)	A938T	probably benign	Het
Serpinb5	T	A	1: 106,798,070 (GRCm39)	C20S	probably benign	Het
Sh2d4b	A	C	14: 40,542,694 (GRCm39)	S361A	probably damaging	Het
Snx2	T	A	18: 53,332,896 (GRCm39)	L190*	probably null	Het
Sorcs3	A	T	19: 48,748,296 (GRCm39)	Y755F	possibly damaging	Het
Styxl2	G	T	1: 165,926,214 (GRCm39)	Q1133K	probably benign	Het
Tiam2	A	G	17: 3,503,613 (GRCm39)	Q930R	probably damaging	Het
Tll1	C	A	8: 64,551,568 (GRCm39)	G271V	probably benign	Het
Tmem116	C	T	5: 121,629,171 (GRCm39)	T188M	probably benign	Het
Tmem181a	T	C	17: 6,351,192 (GRCm39)	V367A	probably benign	Het
Umodl1	T	C	17: 31,221,866 (GRCm39)		probably null	Het
Virma	C	T	4: 11,527,820 (GRCm39)	A1187V	probably damaging	Het
Wdr53	T	C	16: 32,075,482 (GRCm39)	V229A	probably benign	Het
Zcchc10	T	C	11: 53,223,289 (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
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
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
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'- CCTCTGCTGAGATCAAAGGTGTG -3'
(R):5'- GGAAAGCTTTGGGTCTGTAAAAC -3'

Sequencing Primer
(F):5'- CTGAGATCAAAGGTGTGCATCAC -3'
(R):5'- CATATTCCGTGAAGAGCGAATC -3'

Posted On

2018-02-28