Incidental Mutation 'R2055:Kiz'
ID 226568
Institutional Source Beutler Lab
Gene Symbol Kiz
Ensembl Gene ENSMUSG00000074749
Gene Name kizuna centrosomal protein
Synonyms Plk1s1, Ncrna00153, LOC228730, Gm114
MMRRC Submission 040060-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2055 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 146697784-146812017 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 146733203 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 460 (Q460K)
Ref Sequence ENSEMBL: ENSMUSP00000096884 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099278] [ENSMUST00000156232]
AlphaFold Q3UXL4
Predicted Effect probably benign
Transcript: ENSMUST00000099278
AA Change: Q460K

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000096884
Gene: ENSMUSG00000074749
AA Change: Q460K

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
Predicted Effect probably benign
Transcript: ENSMUST00000156232
SMART Domains Protein: ENSMUSP00000121952
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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (74/74)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik T C 5: 138,561,107 (GRCm39) E185G probably damaging Het
3425401B19Rik A G 14: 32,384,508 (GRCm39) S486P probably benign Het
A630023A22Rik T C 14: 33,774,707 (GRCm39) probably benign Het
Abca1 T C 4: 53,069,881 (GRCm39) N1271S probably benign Het
AI597479 C T 1: 43,150,280 (GRCm39) A130V probably benign Het
Angptl4 A G 17: 33,999,498 (GRCm39) probably null Het
Arhgef25 T A 10: 127,021,004 (GRCm39) N294I probably damaging Het
Atp2b1 T C 10: 98,850,421 (GRCm39) V848A probably damaging Het
Bard1 T C 1: 71,114,031 (GRCm39) T317A probably benign Het
C1rl T C 6: 124,470,781 (GRCm39) W30R probably benign Het
Cchcr1 A G 17: 35,837,317 (GRCm39) E379G probably damaging Het
Cfap36 G T 11: 29,197,122 (GRCm39) A3E probably damaging Het
Cilp G A 9: 65,186,997 (GRCm39) G1031S probably damaging Het
Clca4a A G 3: 144,676,489 (GRCm39) Y64H probably damaging Het
Cops5 A G 1: 10,102,562 (GRCm39) probably null Het
Cracr2a G T 6: 127,585,564 (GRCm39) E121* probably null Het
Cstf1 A G 2: 172,222,403 (GRCm39) E387G probably benign Het
D630044L22Rik A C 17: 26,180,951 (GRCm39) D733E probably damaging Het
Dlc1 A T 8: 37,060,535 (GRCm39) C514S probably damaging Het
Dmwd G T 7: 18,810,610 (GRCm39) R139L probably benign Het
Dnah17 A T 11: 117,958,357 (GRCm39) S2709T probably benign Het
Dnmt3a T C 12: 3,922,859 (GRCm39) I154T probably benign Het
Dpp7 T C 2: 25,244,490 (GRCm39) N297S possibly damaging Het
Ern2 A T 7: 121,783,168 (GRCm39) V34D possibly damaging Het
Erp27 A G 6: 136,885,227 (GRCm39) probably benign Het
F2 T C 2: 91,458,787 (GRCm39) T508A probably benign Het
Fam181b A G 7: 92,729,634 (GRCm39) T136A probably benign Het
Fam227b C A 2: 125,942,874 (GRCm39) V308L probably benign Het
Fbxw20 A T 9: 109,050,442 (GRCm39) H394Q probably damaging Het
G530012D18Rik CAGAGAGA CAGAGAGAGA 1: 85,504,945 (GRCm39) probably null Het
Glt8d1 T G 14: 30,731,693 (GRCm39) S111A probably benign Het
Gm11146 A T 16: 77,391,969 (GRCm39) probably benign Het
Grip1 C T 10: 119,885,416 (GRCm39) probably benign Het
H2-Q2 A T 17: 35,564,247 (GRCm39) T334S probably benign Het
Hcrtr1 A G 4: 130,024,680 (GRCm39) V402A probably benign Het
Hmcn2 C A 2: 31,268,294 (GRCm39) A1130D probably benign Het
Hsd17b2 T C 8: 118,428,913 (GRCm39) L60P possibly damaging Het
Htr1f A T 16: 64,746,398 (GRCm39) I298N probably damaging Het
Ighmbp2 G T 19: 3,315,095 (GRCm39) A775D probably benign Het
Kcnn3 A G 3: 89,428,682 (GRCm39) T303A probably damaging Het
Krt75 C T 15: 101,481,196 (GRCm39) V193I probably benign Het
Lsp1 G A 7: 142,043,144 (GRCm39) probably null Het
Mfsd12 A G 10: 81,196,063 (GRCm39) H146R probably damaging Het
Mmp23 T C 4: 155,736,444 (GRCm39) K199R possibly damaging Het
Naip2 A G 13: 100,315,880 (GRCm39) V300A probably benign Het
Nbeal1 C T 1: 60,350,216 (GRCm39) L2422F probably damaging Het
Nbeal2 G T 9: 110,464,375 (GRCm39) D1094E possibly damaging Het
Nckap5 T C 1: 125,954,635 (GRCm39) E639G probably damaging Het
Nr4a3 A G 4: 48,067,771 (GRCm39) I456V possibly damaging Het
Or2t43 A G 11: 58,457,673 (GRCm39) F166S probably damaging Het
Parp9 G T 16: 35,773,984 (GRCm39) V86L probably damaging Het
Phactr1 A G 13: 43,231,416 (GRCm39) N386S probably damaging Het
Pold2 A T 11: 5,823,516 (GRCm39) Y304* probably null Het
Pou5f2 A G 13: 78,173,940 (GRCm39) Y294C probably benign Het
Rars1 A G 11: 35,717,410 (GRCm39) probably benign Het
Rbm12b1 A G 4: 12,145,606 (GRCm39) E526G probably benign Het
Sacs T C 14: 61,451,498 (GRCm39) Y4515H probably damaging Het
Sdk2 C A 11: 113,741,780 (GRCm39) R813L probably damaging Het
Six5 T C 7: 18,829,154 (GRCm39) V198A possibly damaging Het
Slco1a7 A T 6: 141,671,181 (GRCm39) H430Q probably benign Het
Spata31e2 A T 1: 26,724,813 (GRCm39) N122K possibly damaging Het
Spn A G 7: 126,736,388 (GRCm39) S40P probably damaging Het
Ssr1 A G 13: 38,171,761 (GRCm39) probably benign Het
Tlr6 C A 5: 65,111,269 (GRCm39) C546F probably damaging Het
Top1 T A 2: 160,544,748 (GRCm39) probably benign Het
Trhr2 A G 8: 123,085,532 (GRCm39) S151P probably damaging Het
Tubb2b T G 13: 34,311,708 (GRCm39) K362Q probably benign Het
Unc13c T C 9: 73,643,832 (GRCm39) T1211A probably damaging Het
Vmn1r15 T C 6: 57,235,729 (GRCm39) V199A possibly damaging Het
Vnn1 A G 10: 23,776,475 (GRCm39) probably benign Het
Vps41 T A 13: 19,038,786 (GRCm39) N737K possibly damaging Het
Vps50 T A 6: 3,522,265 (GRCm39) N144K probably benign Het
Zc3h7a A T 16: 10,955,340 (GRCm39) N911K probably benign Het
Zkscan7 T A 9: 122,718,002 (GRCm39) S132R probably damaging 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
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'- ATCTGATTCTAGAGAGTCTGGCC -3'
(R):5'- CCACTGTTCAGTGACACTTAAAC -3'

Sequencing Primer
(F):5'- CGCACTGTCGAATCCAGGAG -3'
(R):5'- AGCTACCTTAAAATTTGCAAAAAGG -3'
Posted On 2014-09-17