Incidental Mutation 'IGL01448:Kiz'
ID 84521
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kiz
Ensembl Gene ENSMUSG00000074749
Gene Name kizuna centrosomal protein
Synonyms Plk1s1, Ncrna00153, LOC228730, Gm114
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01448
Quality Score
Status
Chromosome 2
Chromosomal Location 146697784-146812017 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 146705721 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 94 (K94E)
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: K94E

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000096884
Gene: ENSMUSG00000074749
AA Change: K94E

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
AA Change: K94E

PolyPhen 2 Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000121952
Gene: ENSMUSG00000074749
AA Change: K94E

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
Coding Region Coverage
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020A23Rik A T 2: 130,247,767 (GRCm39) E75D possibly damaging Het
1700084J12Rik A G 15: 33,405,779 (GRCm39) probably benign Het
2610303G11Rik T A 9: 98,068,762 (GRCm39) noncoding transcript Het
4931414P19Rik T C 14: 54,823,417 (GRCm39) D320G possibly damaging Het
Adamts6 G A 13: 104,433,672 (GRCm39) E34K probably damaging Het
Alms1 T A 6: 85,654,881 (GRCm39) N3142K possibly damaging Het
Anapc7 G A 5: 122,566,276 (GRCm39) A62T probably damaging Het
Atp8b3 G A 10: 80,356,256 (GRCm39) P1152L probably benign Het
Cc2d2a C T 5: 43,841,527 (GRCm39) T181I possibly damaging Het
Celsr2 A G 3: 108,300,555 (GRCm39) L2835P probably damaging Het
Ctns A T 11: 73,079,548 (GRCm39) V99D possibly damaging Het
Dchs1 T C 7: 105,421,134 (GRCm39) R429G probably damaging Het
Ddx11 T C 17: 66,441,132 (GRCm39) V218A probably damaging Het
Eftud2 G A 11: 102,756,389 (GRCm39) probably benign Het
Erich1 G T 8: 14,128,853 (GRCm39) T29N possibly damaging Het
Exosc8 T C 3: 54,636,686 (GRCm39) E215G probably damaging Het
Fam184a G T 10: 53,575,045 (GRCm39) A188E probably benign Het
Fign A G 2: 63,810,032 (GRCm39) S413P probably damaging Het
Fkbp6 A G 5: 135,378,550 (GRCm39) S33P probably damaging Het
Glb1 A G 9: 114,279,745 (GRCm39) probably benign Het
H2-Q1 T C 17: 35,542,437 (GRCm39) probably benign Het
Helz2 T C 2: 180,875,770 (GRCm39) T1575A probably damaging Het
Il18r1 A G 1: 40,513,890 (GRCm39) E32G probably damaging Het
Ints5 C T 19: 8,872,851 (GRCm39) P270L possibly damaging Het
Itga7 G T 10: 128,785,337 (GRCm39) E847* probably null Het
Kcns3 A C 12: 11,141,644 (GRCm39) S352A possibly damaging Het
Lin7b C T 7: 45,018,624 (GRCm39) V12M probably damaging Het
Myo18b A T 5: 112,959,570 (GRCm39) I1409N probably damaging Het
Myo5b A G 18: 74,777,161 (GRCm39) H407R probably damaging Het
Nelfa T C 5: 34,056,146 (GRCm39) T506A probably damaging Het
Or10p21 A G 10: 128,847,729 (GRCm39) T192A probably damaging Het
Or4d5 A T 9: 40,012,378 (GRCm39) M136K probably damaging Het
Or5p72 T A 7: 108,022,235 (GRCm39) Y152* probably null Het
Or6c69 A G 10: 129,748,114 (GRCm39) I11T possibly damaging Het
Pclo A C 5: 14,726,408 (GRCm39) probably benign Het
Pes1 G A 11: 3,927,979 (GRCm39) E544K possibly damaging Het
Rabgap1l A G 1: 160,568,315 (GRCm39) probably benign Het
Rapgef2 T C 3: 78,976,244 (GRCm39) M1521V probably benign Het
Rapgef2 C T 3: 79,011,269 (GRCm39) probably null Het
Reln A G 5: 22,245,403 (GRCm39) V735A probably benign Het
Slc2a4 A G 11: 69,835,902 (GRCm39) S316P possibly damaging Het
Smarce1 C T 11: 99,101,013 (GRCm39) G373E possibly damaging Het
Spata31d1a T A 13: 59,849,373 (GRCm39) R918S probably benign Het
St3gal4 T C 9: 34,963,627 (GRCm39) K227R probably benign Het
Stra6l T A 4: 45,864,864 (GRCm39) probably null Het
Stxbp5l T C 16: 37,036,341 (GRCm39) I425V probably damaging Het
Tcaf2 T C 6: 42,607,262 (GRCm39) T231A probably benign Het
Tiparp G T 3: 65,460,030 (GRCm39) G442* probably null Het
Tnks A G 8: 35,307,136 (GRCm39) Y1138H probably damaging Het
Vezt T A 10: 93,832,719 (GRCm39) I231F probably damaging Het
Vmn2r4 A T 3: 64,313,816 (GRCm39) N388K probably damaging Het
Zbed3 A G 13: 95,473,142 (GRCm39) K189E possibly damaging Het
Zfp512b T C 2: 181,229,578 (GRCm39) T625A possibly damaging Het
Zfp827 A T 8: 79,787,362 (GRCm39) Q176L possibly damaging Het
Other mutations in Kiz
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-11-11