Incidental Mutation 'IGL01649:Kiz'
ID102768
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kiz
Ensembl Gene ENSMUSG00000074749
Gene Namekizuna centrosomal protein
SynonymsPlk1s1, LOC228730, Ncrna00153, Gm114
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01649
Quality Score
Status
Chromosome2
Chromosomal Location146855864-146970097 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 146889309 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 240 (T240A)
Ref Sequence ENSEMBL: ENSMUSP00000096884 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099278] [ENSMUST00000156232]
Predicted Effect probably benign
Transcript: ENSMUST00000099278
AA Change: T240A

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000096884
Gene: ENSMUSG00000074749
AA Change: T240A

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
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430A15Rik A T 2: 111,214,576 probably benign Het
4931429L15Rik A G 9: 46,305,818 S220P probably benign Het
Adam18 T C 8: 24,614,896 N634S possibly damaging Het
Arhgef18 T A 8: 3,441,211 probably benign Het
Birc6 A G 17: 74,604,546 S1518G probably benign Het
Cltc A G 11: 86,726,400 V341A probably benign Het
Dlg5 A G 14: 24,138,691 V1721A probably damaging Het
Dnah10 A T 5: 124,732,489 I274F probably damaging Het
Dock1 T A 7: 134,777,410 L622Q probably damaging Het
Dysf A G 6: 84,199,839 D1960G probably damaging Het
Fat3 T C 9: 16,376,719 T503A possibly damaging Het
Glb1 A G 9: 114,423,948 Y73C probably damaging Het
Gm9396 G T 3: 130,068,619 noncoding transcript Het
Gml2 G T 15: 74,824,221 E155* probably null Het
Ikzf4 G A 10: 128,635,820 R323C probably damaging Het
Lzts3 T C 2: 130,635,431 K480E probably damaging Het
Mcm7 T C 5: 138,169,436 H105R probably damaging Het
Mpdz A G 4: 81,303,633 L1464P probably damaging Het
Mrgpra9 A C 7: 47,235,152 L256V probably benign Het
Mrpl40 T C 16: 18,872,579 Q127R probably benign Het
Myom2 G T 8: 15,113,755 R1003L probably benign Het
Nav2 A G 7: 49,575,729 T1806A probably damaging Het
Olfr248 T C 1: 174,391,408 L113P probably damaging Het
Pibf1 A T 14: 99,187,763 Y562F possibly damaging Het
Ppm1n A T 7: 19,278,197 probably benign Het
Psg17 A G 7: 18,816,802 V376A possibly damaging Het
Sept8 T A 11: 53,535,028 F143I possibly damaging Het
Sestd1 A G 2: 77,199,045 Y330H probably damaging Het
Sntg1 C T 1: 8,681,969 probably benign Het
Stpg2 C A 3: 139,419,862 P472Q probably damaging Het
Thbs1 A G 2: 118,114,982 K314R probably benign Het
Vav3 T C 3: 109,562,762 Y508H probably benign Het
Other mutations in Kiz
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01448:Kiz APN 2 146863801 missense probably benign 0.22
IGL02184:Kiz APN 2 146889600 missense probably benign 0.20
IGL02500:Kiz APN 2 146863813 missense probably benign 0.06
IGL02548:Kiz APN 2 146870770 missense probably damaging 0.99
R0284:Kiz UTSW 2 146863810 missense probably benign 0.22
R0364:Kiz UTSW 2 146942156 missense probably benign 0.20
R0478:Kiz UTSW 2 146942158 missense possibly damaging 0.93
R0685:Kiz UTSW 2 146856058 splice site probably benign
R0767:Kiz UTSW 2 146889051 missense probably damaging 1.00
R0866:Kiz UTSW 2 146856053 splice site probably benign
R1180:Kiz UTSW 2 146970007 missense unknown
R2037:Kiz UTSW 2 146969960 missense probably damaging 1.00
R2055:Kiz UTSW 2 146891283 missense probably benign 0.10
R2877:Kiz UTSW 2 146889556 missense possibly damaging 0.75
R4780:Kiz UTSW 2 146889246 missense possibly damaging 0.90
R4822:Kiz UTSW 2 146891069 missense probably damaging 1.00
R4835:Kiz UTSW 2 146942088 missense probably damaging 1.00
R5004:Kiz UTSW 2 146969979 missense possibly damaging 0.83
R5473:Kiz UTSW 2 146969995 nonsense probably null
R5878:Kiz UTSW 2 146889601 missense probably damaging 0.99
R6216:Kiz UTSW 2 146889497 missense probably damaging 1.00
R6222:Kiz UTSW 2 146891061 missense probably damaging 1.00
R7144:Kiz UTSW 2 146950510 splice site probably null
R7475:Kiz UTSW 2 146891086 missense possibly damaging 0.90
R7580:Kiz UTSW 2 146956249 missense probably damaging 0.99
R7848:Kiz UTSW 2 146889180 missense probably benign 0.19
R8395:Kiz UTSW 2 146953029 missense possibly damaging 0.79
R8513:Kiz UTSW 2 146870764 critical splice acceptor site probably null
RF021:Kiz UTSW 2 146870830 missense possibly damaging 0.74
Z1177:Kiz UTSW 2 146935827 missense possibly damaging 0.59
Posted On2014-01-21