Incidental Mutation 'R6181:Zwint'
ID 488095
Institutional Source Beutler Lab
Gene Symbol Zwint
Ensembl Gene ENSMUSG00000019923
Gene Name ZW10 interactor
Synonyms 2600001N01Rik, 2010007E07Rik, D10Ertd749e
MMRRC Submission 044323-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6181 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 72490678-72510796 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 72492431 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 115 (V115A)
Ref Sequence ENSEMBL: ENSMUSP00000124429 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020081] [ENSMUST00000105431] [ENSMUST00000160337] [ENSMUST00000219352]
AlphaFold Q9CQU5
Predicted Effect probably benign
Transcript: ENSMUST00000020081
AA Change: V115A

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000020081
Gene: ENSMUSG00000019923
AA Change: V115A

DomainStartEndE-ValueType
low complexity region 4 17 N/A INTRINSIC
Pfam:Zwint 35 250 8.1e-85 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105431
AA Change: V115A

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000101071
Gene: ENSMUSG00000019923
AA Change: V115A

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
AA Change: V115A

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000124429
Gene: ENSMUSG00000019923
AA Change: V115A

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
AA Change: V63A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1b7 A G 6: 34,392,313 (GRCm39) H42R possibly damaging Het
Ankrd26 T A 6: 118,525,838 (GRCm39) H369L probably benign Het
Ano7 T C 1: 93,323,081 (GRCm39) S474P probably damaging Het
Aox3 T C 1: 58,198,105 (GRCm39) V639A probably benign Het
Arhgef2 T A 3: 88,542,927 (GRCm39) V358E probably damaging Het
Brpf3 A G 17: 29,029,555 (GRCm39) Y505C probably damaging Het
Casd1 A G 6: 4,619,331 (GRCm39) T120A probably damaging Het
Ccdc121 A G 5: 31,645,399 (GRCm39) E384G probably damaging Het
Cd200l1 A G 16: 45,238,260 (GRCm39) S185P probably benign Het
Clasp1 T G 1: 118,347,547 (GRCm39) S32A probably benign Het
Clca3a2 A T 3: 144,796,469 (GRCm39) L246* probably null Het
Clcn7 A G 17: 25,370,702 (GRCm39) I353V possibly damaging Het
Cluap1 T A 16: 3,751,608 (GRCm39) D322E probably benign Het
Cmtm4 A C 8: 105,082,997 (GRCm39) probably null Het
Cntnap2 C T 6: 46,736,742 (GRCm39) P723S probably damaging Het
Col6a3 T A 1: 90,744,096 (GRCm39) T84S possibly damaging Het
Corin A G 5: 72,529,439 (GRCm39) probably null Het
Cubn G A 2: 13,354,687 (GRCm39) T1903I probably benign Het
Cyp27b1 A C 10: 126,886,279 (GRCm39) D320A probably damaging Het
Cyp2j6 G C 4: 96,424,323 (GRCm39) L145V probably damaging Het
Dennd2a T C 6: 39,462,554 (GRCm39) K652R probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Dock1 T A 7: 134,760,251 (GRCm39) M1638K probably damaging Het
Efcab3 T C 11: 104,722,159 (GRCm39) S1924P probably benign Het
Eya1 T C 1: 14,373,096 (GRCm39) S8G probably damaging Het
Fam193a T A 5: 34,600,884 (GRCm39) probably null Het
Fbxw11 T A 11: 32,692,575 (GRCm39) N515K probably benign Het
Gm6408 T C 5: 146,420,582 (GRCm39) V154A possibly damaging Het
Guf1 A G 5: 69,719,059 (GRCm39) Y235C probably damaging Het
Hnrnpul2 C T 19: 8,800,596 (GRCm39) S224L possibly damaging Het
Igkv8-19 T A 6: 70,317,968 (GRCm39) D86V probably damaging Het
Iqcf1 A T 9: 106,379,174 (GRCm39) D61V probably damaging Het
Lrp5 T C 19: 3,678,427 (GRCm39) D476G probably damaging Het
Luzp1 A G 4: 136,270,578 (GRCm39) T934A probably benign Het
Mboat7 A T 7: 3,686,884 (GRCm39) Y319N probably benign Het
Mdn1 A G 4: 32,715,953 (GRCm39) E2045G probably damaging Het
Mfsd14b T C 13: 65,260,398 (GRCm39) R12G probably benign Het
Micall2 T A 5: 139,702,506 (GRCm39) T246S probably benign Het
Npepps A G 11: 97,132,830 (GRCm39) V299A probably damaging Het
Or2y11 T A 11: 49,443,120 (GRCm39) V182D probably damaging Het
P2ry13 A G 3: 59,117,328 (GRCm39) V150A probably benign Het
Pdc T C 1: 150,209,021 (GRCm39) I168T probably damaging Het
Pde8b C T 13: 95,223,316 (GRCm39) E313K probably benign Het
Pgap1 C T 1: 54,551,936 (GRCm39) G499R probably benign Het
Ppp1r15b T A 1: 133,060,261 (GRCm39) C259* probably null Het
Pramel21 T A 4: 143,342,828 (GRCm39) probably null Het
Ptgs1 A G 2: 36,141,131 (GRCm39) E526G probably damaging Het
Ptpn21 A G 12: 98,666,258 (GRCm39) L271P probably damaging Het
Rbm47 T C 5: 66,183,833 (GRCm39) T257A possibly damaging Het
Rfc3 C T 5: 151,570,985 (GRCm39) D104N probably damaging Het
Rhobtb3 A G 13: 76,058,808 (GRCm39) I330T probably benign Het
Rnf207 T C 4: 152,393,305 (GRCm39) T570A probably benign Het
Rusf1 A G 7: 127,896,632 (GRCm39) probably null Het
Sbpl T C 17: 24,172,466 (GRCm39) H151R probably damaging Het
Sstr3 T C 15: 78,423,661 (GRCm39) D362G probably benign Het
St7 T C 6: 17,694,363 (GRCm39) probably null Het
Tasor T A 14: 27,194,235 (GRCm39) M1145K probably benign Het
Tdrd6 A G 17: 43,939,788 (GRCm39) V420A probably damaging Het
Tet2 C A 3: 133,193,520 (GRCm39) E305* probably null Het
Tmem209 A T 6: 30,505,970 (GRCm39) V68E probably damaging Het
Tmod4 A T 3: 95,035,118 (GRCm39) I208F probably damaging Het
Tpo G A 12: 30,181,884 (GRCm39) L4F probably benign Het
Urb1 T C 16: 90,575,982 (GRCm39) H858R probably benign Het
Utrn A G 10: 12,615,200 (GRCm39) W324R probably damaging Het
V1rd19 T A 7: 23,702,640 (GRCm39) F35L possibly damaging Het
Vmn1r170 C A 7: 23,305,692 (GRCm39) N31K probably damaging Het
Vmn1r192 T A 13: 22,371,452 (GRCm39) Y256F probably damaging Het
Vmn2r124 T C 17: 18,294,019 (GRCm39) I702T possibly damaging Het
Vmn2r96 G A 17: 18,804,126 (GRCm39) A459T probably benign Het
Vwf G T 6: 125,543,109 (GRCm39) A132S probably damaging Het
Zfp202 G A 9: 40,118,638 (GRCm39) G17E probably damaging Het
Zfp608 A G 18: 55,028,700 (GRCm39) S1238P possibly damaging Het
Zfp804a G T 2: 82,087,486 (GRCm39) M438I probably damaging Het
Zgrf1 G A 3: 127,381,590 (GRCm39) G246S probably damaging 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
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
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'- ATGCCTGTGTCTGCCTCATG -3'
(R):5'- GTTTCTCCTCAAGGACTCGC -3'

Sequencing Primer
(F):5'- TGTCTGCCTCATGGGAAGGAAG -3'
(R):5'- TCAAGGACTCGCTTCTGCAG -3'
Posted On 2017-10-10