Incidental Mutation 'R8513:Kiz'
ID 655968
Institutional Source Beutler Lab
Gene Symbol Kiz
Ensembl Gene ENSMUSG00000074749
Gene Name kizuna centrosomal protein
Synonyms Plk1s1, Ncrna00153, LOC228730, Gm114
MMRRC Submission 067889-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8513 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 146697784-146812017 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to G at 146712684 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000096884 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099278] [ENSMUST00000156232]
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
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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apoe C A 7: 19,430,565 (GRCm39) G226W probably damaging Het
Armc9 T C 1: 86,090,405 (GRCm39) F67L probably damaging Het
Bsn T C 9: 107,991,709 (GRCm39) I1348V possibly damaging Het
Cdc73 C A 1: 143,493,129 (GRCm39) E402* probably null Het
Coro2a ACCAGAAGAGCCATCCAG ACCAG 4: 46,544,117 (GRCm39) probably null Het
Cpt2 G A 4: 107,764,123 (GRCm39) A547V probably damaging Het
Cpxm2 A T 7: 131,745,431 (GRCm39) H131Q probably benign Het
Ctdp1 G A 18: 80,492,678 (GRCm39) L606F possibly damaging Het
Dot1l T C 10: 80,627,260 (GRCm39) S1494P possibly damaging Het
Evpl C T 11: 116,120,570 (GRCm39) probably null Het
Fgd3 T C 13: 49,417,400 (GRCm39) T688A probably benign Het
Galnt3 A T 2: 65,924,064 (GRCm39) C401* probably null Het
Gml2 C G 15: 74,696,004 (GRCm39) P133A probably damaging Het
Hepacam A G 9: 37,291,930 (GRCm39) E86G probably benign Het
Ilf3 A G 9: 21,299,932 (GRCm39) E39G possibly damaging Het
Kdm3b G T 18: 34,926,129 (GRCm39) A90S probably benign Het
Myo1e T A 9: 70,227,370 (GRCm39) L147H probably damaging Het
Naa15 T A 3: 51,367,444 (GRCm39) V539E probably damaging Het
Nlrp6 A C 7: 140,502,743 (GRCm39) D283A possibly damaging Het
Ntf5 A G 7: 45,065,179 (GRCm39) T104A probably damaging Het
Or1e28-ps1 A G 11: 73,615,148 (GRCm39) V234A unknown Het
Pacsin3 A C 2: 91,093,150 (GRCm39) N214T probably benign Het
Pcdha6 T C 18: 37,102,229 (GRCm39) I474T probably damaging Het
Pcdhgb1 A G 18: 37,813,581 (GRCm39) Y24C probably damaging Het
Pde2a A T 7: 101,158,972 (GRCm39) N749Y probably damaging Het
Ptpn3 G A 4: 57,270,085 (GRCm39) R26* probably null Het
Rab7 T C 6: 87,981,250 (GRCm39) Y144C probably benign Het
Ralgps1 T C 2: 33,226,626 (GRCm39) S22G probably damaging Het
Setdb2 G A 14: 59,639,839 (GRCm39) T668M probably damaging Het
Slit2 T A 5: 48,382,050 (GRCm39) C510* probably null Het
Snrpa1 G A 7: 65,720,381 (GRCm39) G195R probably benign Het
Spata2l T C 8: 123,960,438 (GRCm39) M284V probably benign Het
Spata31d1c G T 13: 65,180,991 (GRCm39) S30I probably damaging Het
Stab1 C A 14: 30,871,747 (GRCm39) probably null Het
Tmem184b A T 15: 79,254,123 (GRCm39) S142T probably benign Het
Tmem201 A T 4: 149,812,380 (GRCm39) M312K probably damaging Het
Tpp1 A T 7: 105,398,786 (GRCm39) D214E possibly damaging Het
Trav7-2 C T 14: 53,628,478 (GRCm39) S72F probably damaging Het
Vmn1r37 A G 6: 66,708,820 (GRCm39) T149A probably benign Het
Zfp512 T C 5: 31,637,425 (GRCm39) S505P probably damaging Het
Zfp942 T C 17: 22,147,282 (GRCm39) D449G probably benign 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
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
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'- ATGCTTGTGAAATTGCCTGATTGC -3'
(R):5'- AGTCCAAGTAACTGTCTTTTGGC -3'

Sequencing Primer
(F):5'- CCTGATTGCCTGTTTTCCAAGGTAAG -3'
(R):5'- TGGAAACATAAAATCCCCCG -3'
Posted On 2020-10-20