Incidental Mutation 'IGL01726:Zwint'
ID 105299
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zwint
Ensembl Gene ENSMUSG00000019923
Gene Name ZW10 interactor
Synonyms 2600001N01Rik, 2010007E07Rik, D10Ertd749e
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01726
Quality Score
Status
Chromosome 10
Chromosomal Location 72490678-72510796 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to G at 72493019 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124429 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020081] [ENSMUST00000105431] [ENSMUST00000160337] [ENSMUST00000219352]
AlphaFold Q9CQU5
Predicted Effect probably null
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 null
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 null
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
Validation Efficiency
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adar T C 3: 89,638,147 (GRCm39) probably null Het
Arpc2 A G 1: 74,287,338 (GRCm39) T53A probably benign Het
Ccdc170 C A 10: 4,499,713 (GRCm39) L545M probably benign Het
Ccm2l T C 2: 152,922,821 (GRCm39) probably benign Het
Celsr1 T C 15: 85,810,391 (GRCm39) N2166D probably benign Het
Clca4b T G 3: 144,634,103 (GRCm39) D104A probably damaging Het
Clcnka C T 4: 141,120,051 (GRCm39) probably null Het
Clip2 A T 5: 134,551,518 (GRCm39) N201K probably damaging Het
Cyp1a2 G A 9: 57,589,485 (GRCm39) L110F possibly damaging Het
Dhtkd1 T C 2: 5,947,467 (GRCm39) T6A unknown Het
Enthd1 A C 15: 80,336,652 (GRCm39) L594R probably damaging Het
Espnl A G 1: 91,272,626 (GRCm39) D618G probably benign Het
Gm6096 A T 7: 33,950,904 (GRCm39) I148F probably damaging Het
Hsf5 C T 11: 87,526,951 (GRCm39) T541I probably benign Het
Il18r1 A G 1: 40,537,563 (GRCm39) S443G possibly damaging Het
Il1a T C 2: 129,146,640 (GRCm39) D151G possibly damaging Het
Ints1 A G 5: 139,754,166 (GRCm39) probably benign Het
Kcnh1 A C 1: 192,188,164 (GRCm39) D875A possibly damaging Het
Naip6 T A 13: 100,439,760 (GRCm39) I336F probably benign Het
Napepld A G 5: 21,880,657 (GRCm39) F246S possibly damaging Het
Nova1 C T 12: 46,760,280 (GRCm39) probably null Het
Nsa2 C A 13: 97,268,525 (GRCm39) A181S probably damaging Het
Ntn5 C A 7: 45,343,671 (GRCm39) R337S probably damaging Het
Nynrin T C 14: 56,101,611 (GRCm39) S427P probably benign Het
Or52e5 A G 7: 104,718,836 (GRCm39) E54G probably damaging Het
Pcgf1 T A 6: 83,055,867 (GRCm39) probably null Het
Pfn4 T A 12: 4,824,446 (GRCm39) L58I probably benign Het
Plekha1 C A 7: 130,499,059 (GRCm39) P116Q probably damaging Het
Pou5f2 T C 13: 78,173,300 (GRCm39) S81P possibly damaging Het
Prag1 A G 8: 36,570,146 (GRCm39) D243G probably damaging Het
Rbm26 G A 14: 105,389,943 (GRCm39) P227L probably damaging Het
Rgl1 A T 1: 152,394,904 (GRCm39) N756K probably damaging Het
Rhou A T 8: 124,380,880 (GRCm39) T66S possibly damaging Het
Rspo3 A T 10: 29,380,704 (GRCm39) D103E probably benign Het
Rundc3b T C 5: 8,570,902 (GRCm39) K306E probably benign Het
Slc25a32 A G 15: 38,965,466 (GRCm39) probably benign Het
St6galnac2 C T 11: 116,575,945 (GRCm39) D169N probably damaging Het
Tars3 A G 7: 65,332,566 (GRCm39) T556A possibly damaging Het
Tmem266 A G 9: 55,342,486 (GRCm39) K324E probably benign Het
Tnrc6c T C 11: 117,640,161 (GRCm39) probably benign Het
Trappc9 A T 15: 72,817,971 (GRCm39) S452T probably damaging Het
Tspear T A 10: 77,717,121 (GRCm39) probably benign Het
Ttll5 T G 12: 85,965,708 (GRCm39) I571S probably benign Het
Ttn T C 2: 76,797,433 (GRCm39) T544A probably benign Het
Ubn1 T C 16: 4,891,334 (GRCm39) probably null Het
Ubr2 C A 17: 47,303,907 (GRCm39) probably benign Het
Usp21 A T 1: 171,111,574 (GRCm39) W360R probably damaging Het
Vmn2r62 A T 7: 42,414,526 (GRCm39) L639H probably damaging Het
Zc3h7b T A 15: 81,656,000 (GRCm39) I116N possibly damaging Het
Zfp618 C T 4: 63,050,872 (GRCm39) T551I probably damaging Het
Zfp804b T C 5: 7,230,707 (GRCm39) probably benign Het
Zkscan8 T C 13: 21,704,973 (GRCm39) H322R probably benign Het
Other mutations in Zwint
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02334:Zwint APN 10 72,490,815 (GRCm39) splice site probably null
IGL02936:Zwint APN 10 72,492,956 (GRCm39) missense probably damaging 0.98
R0016:Zwint UTSW 10 72,493,030 (GRCm39) unclassified probably benign
R0016:Zwint UTSW 10 72,493,030 (GRCm39) unclassified probably benign
R0365:Zwint UTSW 10 72,493,127 (GRCm39) nonsense probably null
R1628:Zwint UTSW 10 72,492,127 (GRCm39) nonsense probably null
R4405:Zwint UTSW 10 72,492,095 (GRCm39) missense probably damaging 1.00
R4850:Zwint UTSW 10 72,491,788 (GRCm39) unclassified probably benign
R5874:Zwint UTSW 10 72,492,294 (GRCm39) intron probably benign
R6019:Zwint UTSW 10 72,492,685 (GRCm39) missense possibly damaging 0.66
R6181:Zwint UTSW 10 72,492,431 (GRCm39) missense probably benign 0.03
R6333:Zwint UTSW 10 72,490,784 (GRCm39) unclassified probably benign
R7880:Zwint UTSW 10 72,492,924 (GRCm39) missense probably benign 0.06
R9681:Zwint UTSW 10 72,493,112 (GRCm39) missense probably damaging 1.00
Posted On 2014-01-21