Incidental Mutation 'R7144:Kiz'
ID 574553
Institutional Source Beutler Lab
Gene Symbol Kiz
Ensembl Gene ENSMUSG00000074749
Gene Name kizuna centrosomal protein
Synonyms Plk1s1, Ncrna00153, LOC228730, Gm114
MMRRC Submission 045328-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7144 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 146697784-146812017 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to G at 146792430 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000096884 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099278]
AlphaFold Q3UXL4
Predicted Effect probably null
Transcript: ENSMUST00000099278
SMART Domains Protein: ENSMUSP00000096884
Gene: ENSMUSG00000074749

DomainStartEndE-ValueType
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 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 99% (95/96)
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: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A T 7: 120,032,796 (GRCm39) I272F possibly damaging Het
Adcy10 G T 1: 165,337,939 (GRCm39) M184I probably benign Het
Aldoa G T 7: 126,396,034 (GRCm39) T124N possibly damaging Het
Ap4e1 T A 2: 126,853,727 (GRCm39) I55N probably damaging Het
Arhgap21 T C 2: 20,870,198 (GRCm39) T913A probably benign Het
Atrnl1 G A 19: 58,030,784 (GRCm39) E1309K probably damaging Het
BC034090 A T 1: 155,117,777 (GRCm39) C114S probably damaging Het
Brinp2 A G 1: 158,122,994 (GRCm39) probably null Het
Ccn4 T A 15: 66,784,879 (GRCm39) V184E probably damaging Het
Ccna1 G T 3: 54,953,120 (GRCm39) H408Q probably benign Het
Cd209g T G 8: 4,185,189 (GRCm39) probably benign Het
Cdc20b A G 13: 113,219,905 (GRCm39) I433V probably benign Het
Cdk2ap1 G A 5: 124,492,421 (GRCm39) P5L probably damaging Het
Cep128 T C 12: 91,260,933 (GRCm39) E310G probably damaging Het
Cflar G T 1: 58,793,007 (GRCm39) V458F Het
Clec4b2 A G 6: 123,158,343 (GRCm39) T70A probably benign Het
Cntnap5c A G 17: 58,593,883 (GRCm39) T741A probably benign Het
Csf3r A T 4: 125,937,515 (GRCm39) T800S probably benign Het
Csnk1g2 T C 10: 80,473,733 (GRCm39) Y67H probably damaging Het
Cyp2c67 A T 19: 39,604,138 (GRCm39) V406E probably benign Het
Dnah10 A G 5: 124,900,006 (GRCm39) D3868G probably damaging Het
Dnah7a A T 1: 53,737,867 (GRCm39) probably null Het
Dst A G 1: 34,191,324 (GRCm39) N208S probably damaging Het
Echdc3 A G 2: 6,211,224 (GRCm39) probably null Het
Edrf1 T C 7: 133,239,578 (GRCm39) S13P probably benign Het
Ephb1 T C 9: 101,841,276 (GRCm39) Y734C probably damaging Het
Eps8l1 A G 7: 4,475,184 (GRCm39) Y325C probably damaging Het
Evc2 A G 5: 37,544,183 (GRCm39) D644G probably damaging Het
Eya4 A C 10: 23,048,943 (GRCm39) D54E probably benign Het
Filip1 T C 9: 79,727,495 (GRCm39) S375G possibly damaging Het
Fmo9 A G 1: 166,505,189 (GRCm39) M68T probably benign Het
Gemin5 G C 11: 58,032,489 (GRCm39) P772A probably benign Het
Gle1 T G 2: 29,833,805 (GRCm39) C401G probably damaging Het
Gm7298 A T 6: 121,738,546 (GRCm39) I376F probably damaging Het
Gpr35 A C 1: 92,910,353 (GRCm39) I22L probably benign Het
Grin2b T G 6: 135,710,474 (GRCm39) D1024A possibly damaging Het
Hmcn1 T C 1: 150,539,624 (GRCm39) N2956D probably damaging Het
Htt T C 5: 35,003,350 (GRCm39) L1275P probably damaging Het
Ibtk T C 9: 85,625,744 (GRCm39) D2G probably benign Het
Il16 T A 7: 83,295,659 (GRCm39) D1170V probably damaging Het
Iqgap3 T A 3: 88,024,217 (GRCm39) I1513N probably damaging Het
Krt12 A T 11: 99,306,839 (GRCm39) *488K probably null Het
Lap3 A T 5: 45,654,290 (GRCm39) T83S probably benign Het
Lars2 T A 9: 123,261,058 (GRCm39) S410T probably damaging Het
Limch1 A G 5: 67,175,001 (GRCm39) T518A probably benign Het
Lrrc49 A T 9: 60,522,439 (GRCm39) S381T probably damaging Het
Lrrk2 A G 15: 91,618,258 (GRCm39) D919G possibly damaging Het
Mmp1a A T 9: 7,475,319 (GRCm39) S363C probably damaging Het
Mrps22 A C 9: 98,483,524 (GRCm39) probably null Het
Mybpc3 T C 2: 90,964,949 (GRCm39) I1066T probably benign Het
Myo10 A T 15: 25,724,011 (GRCm39) N215I probably damaging Het
Myocd A C 11: 65,109,474 (GRCm39) L99R probably damaging Het
Nadk T G 4: 155,673,793 (GRCm39) I394S probably damaging Het
Nadsyn1 T C 7: 143,364,952 (GRCm39) N251S probably damaging Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Ncapd2 G A 6: 125,153,633 (GRCm39) P694L probably benign Het
Or2ag1 T A 7: 106,473,075 (GRCm39) I126F probably damaging Het
Or2w3b A C 11: 58,623,571 (GRCm39) L140R probably damaging Het
Or4a71 T C 2: 89,357,901 (GRCm39) I284M probably damaging Het
Or5t16 G T 2: 86,819,164 (GRCm39) R119S probably damaging Het
Pcdhb13 T A 18: 37,576,309 (GRCm39) I229K probably damaging Het
Pgbd5 A T 8: 125,101,056 (GRCm39) M400K possibly damaging Het
Phactr3 A G 2: 177,944,529 (GRCm39) N409S probably damaging Het
Pik3c2g C A 6: 139,606,868 (GRCm39) P305Q probably damaging Het
Pik3r4 G A 9: 105,527,783 (GRCm39) V379M probably damaging Het
Pira12 A G 7: 3,900,615 (GRCm39) V45A probably damaging Het
Pkd1l2 A T 8: 117,802,870 (GRCm39) C250* probably null Het
Pramel14 A C 4: 143,718,103 (GRCm39) S447A probably benign Het
Rapgef6 A C 11: 54,548,191 (GRCm39) T792P possibly damaging Het
Rexo5 A G 7: 119,404,414 (GRCm39) D170G probably damaging Het
Rnf17 G A 14: 56,749,789 (GRCm39) probably null Het
Septin11 A G 5: 93,304,725 (GRCm39) I181V probably benign Het
Serpina1e T G 12: 103,913,277 (GRCm39) *414C probably null Het
Serpine1 C A 5: 137,099,918 (GRCm39) Q80H probably damaging Het
Sh3bp2 A G 5: 34,718,975 (GRCm39) N560S probably benign Het
Slc25a25 A G 2: 32,309,178 (GRCm39) F221S probably damaging Het
Spag17 G T 3: 99,934,717 (GRCm39) probably null Het
Sspn T C 6: 145,906,881 (GRCm39) L104P probably damaging Het
St18 A C 1: 6,903,818 (GRCm39) E693A probably damaging Het
St6galnac3 T C 3: 153,117,169 (GRCm39) I185V possibly damaging Het
St8sia1 T C 6: 142,822,395 (GRCm39) D156G probably damaging Het
Syne2 C A 12: 76,052,152 (GRCm39) S4092R probably benign Het
Tll1 T A 8: 64,577,979 (GRCm39) D76V possibly damaging Het
Tmco1 C T 1: 167,136,022 (GRCm39) probably benign Het
Tnfaip3 T A 10: 18,883,029 (GRCm39) T179S probably benign Het
Trav16 T C 14: 53,981,096 (GRCm39) I95T possibly damaging Het
Trip12 A T 1: 84,771,435 (GRCm39) S280T probably damaging Het
Unc79 A G 12: 103,108,885 (GRCm39) M2166V probably benign Het
Vmn2r1 A G 3: 63,997,362 (GRCm39) I339M probably damaging Het
Vwa5b1 A G 4: 138,332,742 (GRCm39) probably null Het
Washc4 A T 10: 83,409,638 (GRCm39) probably null Het
Wiz A G 17: 32,576,602 (GRCm39) S642P possibly damaging Het
Zeb2 T A 2: 45,000,053 (GRCm39) K60N possibly damaging Het
Zfat T A 15: 68,050,631 (GRCm39) T797S probably benign Het
Zfp74 T C 7: 29,634,590 (GRCm39) K373E probably damaging Het
Zswim5 T C 4: 116,833,173 (GRCm39) probably null Het
Other mutations in Kiz
AlleleSourceChrCoordTypePredicted EffectPPH 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
R6222:Kiz UTSW 2 146,732,981 (GRCm39) missense probably damaging 1.00
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'- GCAGCAAGCAGTTGTGAGATC -3'
(R):5'- TCCTAATTCACAGGGGCTGC -3'

Sequencing Primer
(F):5'- GCAGTTGTGAGATCTAACGGC -3'
(R):5'- CCGGGGCAGTGTCAGAAAAG -3'
Posted On 2019-09-18