Incidental Mutation 'R0016:Zwint'
ID 32707
Institutional Source Beutler Lab
Gene Symbol Zwint
Ensembl Gene ENSMUSG00000019923
Gene Name ZW10 interactor
Synonyms 2600001N01Rik, 2010007E07Rik, D10Ertd749e
MMRRC Submission 038311-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0016 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 10
Chromosomal Location 72490678-72510796 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 72493030 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020081] [ENSMUST00000105431] [ENSMUST00000160337] [ENSMUST00000219352]
AlphaFold Q9CQU5
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
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.2%
Validation Efficiency 100% (58/58)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A C 1: 71,333,959 (GRCm39) V1181G probably benign Het
Adamts12 A T 15: 11,217,915 (GRCm39) I291F probably damaging Het
Aspm G C 1: 139,407,282 (GRCm39) Q2056H probably benign Het
C7 A T 15: 5,076,406 (GRCm39) V122E probably benign Het
Casp12 A T 9: 5,352,844 (GRCm39) Q152L probably null Het
Cdh16 T A 8: 105,344,264 (GRCm39) T92S probably benign Het
Chrd G C 16: 20,553,058 (GRCm39) V162L possibly damaging Het
Cpne8 A G 15: 90,385,608 (GRCm39) probably benign Het
Cspg4b T C 13: 113,502,639 (GRCm39) Y115H probably damaging Het
Cyp2j7 T A 4: 96,090,384 (GRCm39) I347F probably damaging Het
Cyp4a10 A T 4: 115,378,304 (GRCm39) Q130L probably damaging Het
Dach1 C T 14: 98,406,184 (GRCm39) G188R probably damaging Het
Dgkd T C 1: 87,845,674 (GRCm39) S294P probably benign Het
Dnah8 A G 17: 30,882,290 (GRCm39) I621V probably benign Het
Dync2h1 A G 9: 7,144,346 (GRCm39) probably benign Het
Echdc1 A T 10: 29,198,417 (GRCm39) probably benign Het
Elovl3 T A 19: 46,120,597 (GRCm39) F30Y probably damaging Het
Fa2h T C 8: 112,120,146 (GRCm39) Y80C probably damaging Het
Fgd3 C T 13: 49,450,085 (GRCm39) D55N probably benign Het
Fhod1 T C 8: 106,058,287 (GRCm39) E823G possibly damaging Het
Gapvd1 A G 2: 34,589,925 (GRCm39) probably benign Het
Gm17067 A T 7: 42,358,046 (GRCm39) I152K probably benign Het
Gvin3 G A 7: 106,202,453 (GRCm39) L264F probably benign Het
Kif27 A G 13: 58,502,528 (GRCm39) V50A probably damaging Het
Kpna2 T C 11: 106,881,912 (GRCm39) T305A probably benign Het
Krtap22-2 A G 16: 88,807,407 (GRCm39) probably benign Het
Lrp2bp T A 8: 46,465,068 (GRCm39) F62L probably damaging Het
Marf1 G A 16: 13,970,129 (GRCm39) H197Y probably damaging Het
Mob3b A G 4: 35,083,947 (GRCm39) F81L probably benign Het
Mon2 C T 10: 122,871,451 (GRCm39) V389M probably damaging Het
Myef2l A T 3: 10,154,379 (GRCm39) M383L possibly damaging Het
Myh8 A G 11: 67,189,351 (GRCm39) K1176E probably damaging Het
Naf1 T C 8: 67,341,707 (GRCm39) probably benign Het
Nckap1l A G 15: 103,384,063 (GRCm39) T554A probably benign Het
Oog3 A G 4: 143,884,641 (GRCm39) Y432H probably damaging Het
Paxbp1 A T 16: 90,832,924 (GRCm39) probably benign Het
Phf20 A T 2: 156,109,114 (GRCm39) K154* probably null Het
Pip4p1 C T 14: 51,166,351 (GRCm39) R213Q probably damaging Het
Plekhj1 T C 10: 80,632,250 (GRCm39) D74G possibly damaging Het
Plpp4 T C 7: 128,925,148 (GRCm39) C128R probably damaging Het
Rcan3 A T 4: 135,145,689 (GRCm39) probably null Het
Sh3rf1 T A 8: 61,827,172 (GRCm39) M642K probably benign Het
Slc7a1 A G 5: 148,271,393 (GRCm39) V522A probably benign Het
Sorbs1 A G 19: 40,303,182 (GRCm39) probably benign Het
Spry2 C T 14: 106,130,731 (GRCm39) V152M probably benign Het
Srgap2 A G 1: 131,277,200 (GRCm39) M349T possibly damaging Het
Stag3 A G 5: 138,289,643 (GRCm39) H271R possibly damaging Het
Stat4 T C 1: 52,107,939 (GRCm39) V136A probably benign Het
Stc2 A T 11: 31,310,177 (GRCm39) D286E probably benign Het
Stk31 T C 6: 49,414,311 (GRCm39) Y482H probably damaging Het
Tasor2 A C 13: 3,635,170 (GRCm39) probably null Het
Ticrr C T 7: 79,343,540 (GRCm39) P1135L probably benign Het
Trim27 A T 13: 21,375,399 (GRCm39) E310V probably benign Het
Uvrag T C 7: 98,641,188 (GRCm39) K284R probably benign Het
Vmn1r78 A C 7: 11,887,279 (GRCm39) S297R probably benign Het
Xylt2 A G 11: 94,560,466 (GRCm39) S270P probably damaging Het
Zfhx3 T C 8: 109,676,810 (GRCm39) M2620T probably benign Het
Zkscan2 C A 7: 123,099,219 (GRCm39) probably benign Het
Other mutations in Zwint
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01726:Zwint APN 10 72,493,019 (GRCm39) critical splice donor site probably null
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
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
Predicted Primers PCR Primer
(F):5'- TGCATTCTCACCCCTTCAGAAGCG -3'
(R):5'- TCAAGTGGACACTGATCTCTCCCC -3'

Sequencing Primer
(F):5'- AGCGTTTGCAGAACCTGA -3'
(R):5'- GTTACTCAACTGACAGGGCTTAC -3'
Posted On 2013-05-09