Incidental Mutation 'R0016:Zwint'
ID8281
Institutional Source Beutler Lab
Gene Symbol Zwint
Ensembl Gene ENSMUSG00000019923
Gene NameZW10 interactor
Synonyms2010007E07Rik, D10Ertd749e, 2600001N01Rik
MMRRC Submission 038311-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R0016 (G1)
Quality Score
Status Validated
Chromosome10
Chromosomal Location72654845-72674964 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to C at 72657198 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020081] [ENSMUST00000105431] [ENSMUST00000160337] [ENSMUST00000219352]
Predicted Effect probably benign
Transcript: ENSMUST00000020081
SMART Domains Protein: ENSMUSP00000020081
Gene: ENSMUSG00000019923

DomainStartEndE-ValueType
low complexity region 4 17 N/A INTRINSIC
Pfam:Zwint 35 250 8.1e-85 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105431
SMART Domains Protein: ENSMUSP00000101071
Gene: ENSMUSG00000019923

DomainStartEndE-ValueType
low complexity region 4 17 N/A INTRINSIC
Pfam:Zwint 35 250 8.1e-85 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159549
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160128
Predicted Effect probably benign
Transcript: ENSMUST00000160337
SMART Domains Protein: ENSMUSP00000124429
Gene: ENSMUSG00000019923

DomainStartEndE-ValueType
low complexity region 4 17 N/A INTRINSIC
Pfam:Zwint 35 250 4.4e-85 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163046
Predicted Effect probably benign
Transcript: ENSMUST00000219352
Coding Region Coverage
  • 1x: 81.7%
  • 3x: 74.6%
  • 10x: 53.6%
  • 20x: 32.4%
Validation Efficiency 93% (85/91)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is clearly involved in kinetochore function although an exact role is not known. It interacts with ZW10, another kinetochore protein, possibly regulating the association between ZW10 and kinetochores. The encoded protein localizes to prophase kinetochores before ZW10 does and it remains detectable on the kinetochore until late anaphase. It has a uniform distribution in the cytoplasm of interphase cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A C 1: 71,294,800 V1181G probably benign Het
Adamts12 A T 15: 11,217,829 I291F probably damaging Het
Aspm G C 1: 139,479,544 Q2056H probably benign Het
BC067074 T C 13: 113,366,105 Y115H probably damaging Het
C7 A T 15: 5,046,924 V122E probably benign Het
Casp12 A T 9: 5,352,844 Q152L probably null Het
Cpne8 A G 15: 90,501,405 probably benign Het
Cyp2j7 T A 4: 96,202,147 I347F probably damaging Het
Dync2h1 A G 9: 7,144,346 probably benign Het
Echdc1 A T 10: 29,322,421 probably benign Het
Elovl3 T A 19: 46,132,158 F30Y probably damaging Het
Fam208b A C 13: 3,585,170 probably null Het
Fgd3 C T 13: 49,296,609 D55N probably benign Het
Fhod1 T C 8: 105,331,655 E823G possibly damaging Het
Gapvd1 A G 2: 34,699,913 probably benign Het
Helz2 C A 2: 181,232,759 G1981C probably damaging Het
Kif27 A G 13: 58,354,714 V50A probably damaging Het
Lrp2bp T A 8: 46,012,031 F62L probably damaging Het
Marf1 G A 16: 14,152,265 H197Y probably damaging Het
Mon2 C T 10: 123,035,546 V389M probably damaging Het
Myh8 A G 11: 67,298,525 K1176E probably damaging Het
Nckap1l A G 15: 103,475,636 T554A probably benign Het
Oog3 A G 4: 144,158,071 Y432H probably damaging Het
Sorbs1 A G 19: 40,314,738 probably benign Het
Srgap2 A G 1: 131,349,462 M349T possibly damaging Het
Stc2 A T 11: 31,360,177 D286E probably benign Het
Stk31 T C 6: 49,437,377 Y482H probably damaging Het
Sycp2l A G 13: 41,157,500 probably benign Het
Tcrg-V5 G A 13: 19,192,719 W112* probably null Het
Trim27 A T 13: 21,191,229 E310V probably benign Het
Uvrag T C 7: 98,991,981 K284R probably benign Het
Xylt2 A G 11: 94,669,640 S270P probably damaging Het
Other mutations in Zwint
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01726:Zwint APN 10 72657187 critical splice donor site probably null
IGL02334:Zwint APN 10 72654983 splice site probably null
IGL02936:Zwint APN 10 72657124 missense probably damaging 0.98
R0016:Zwint UTSW 10 72657198 unclassified probably benign
R0365:Zwint UTSW 10 72657295 nonsense probably null
R1628:Zwint UTSW 10 72656295 nonsense probably null
R4405:Zwint UTSW 10 72656263 missense probably damaging 1.00
R4850:Zwint UTSW 10 72655956 unclassified probably benign
R5874:Zwint UTSW 10 72656462 intron probably benign
R6019:Zwint UTSW 10 72656853 missense possibly damaging 0.66
R6181:Zwint UTSW 10 72656599 missense probably benign 0.03
R6333:Zwint UTSW 10 72654952 unclassified probably benign
Posted On2012-11-21