Incidental Mutation 'R9681:Zwint'
ID 728571
Institutional Source Beutler Lab
Gene Symbol Zwint
Ensembl Gene ENSMUSG00000019923
Gene Name ZW10 interactor
Synonyms 2600001N01Rik, 2010007E07Rik, D10Ertd749e
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9681 (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 72493112 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 218 (L218P)
Ref Sequence ENSEMBL: ENSMUSP00000020081 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020081] [ENSMUST00000105431] [ENSMUST00000160337] [ENSMUST00000219352]
AlphaFold Q9CQU5
Predicted Effect probably damaging
Transcript: ENSMUST00000020081
AA Change: L218P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020081
Gene: ENSMUSG00000019923
AA Change: L218P

DomainStartEndE-ValueType
low complexity region 4 17 N/A INTRINSIC
Pfam:Zwint 35 250 8.1e-85 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000105431
AA Change: L218P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101071
Gene: ENSMUSG00000019923
AA Change: L218P

DomainStartEndE-ValueType
low complexity region 4 17 N/A INTRINSIC
Pfam:Zwint 35 250 8.1e-85 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000160337
AA Change: L218P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124429
Gene: ENSMUSG00000019923
AA Change: L218P

DomainStartEndE-ValueType
low complexity region 4 17 N/A INTRINSIC
Pfam:Zwint 35 250 4.4e-85 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000219352
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610030E20Rik A G 6: 72,324,450 (GRCm39) D20G probably damaging Het
Acbd3 T A 1: 180,566,082 (GRCm39) Y258* probably null Het
Adamts1 T A 16: 85,599,498 (GRCm39) H34L Het
Ankmy1 G T 1: 92,813,882 (GRCm39) N432K possibly damaging Het
Ano1 A G 7: 144,143,893 (GRCm39) M966T possibly damaging Het
Ark2n A T 18: 77,722,989 (GRCm39) V349D possibly damaging Het
C2cd3 A G 7: 100,023,662 (GRCm39) T83A probably benign Het
Cdk1 T A 10: 69,178,449 (GRCm39) D137V possibly damaging Het
Cfap299 T A 5: 98,477,214 (GRCm39) M1K probably null Het
Chia1 A G 3: 106,037,996 (GRCm39) Y326C probably damaging Het
Ciz1 A G 2: 32,260,974 (GRCm39) D295G possibly damaging Het
Clrn1 C T 3: 58,792,251 (GRCm39) V71I probably benign Het
Cr1l T C 1: 194,800,149 (GRCm39) D175G probably damaging Het
Crem A T 18: 3,268,067 (GRCm39) V87E probably damaging Het
Cyp2b19 T A 7: 26,466,328 (GRCm39) L377Q probably benign Het
Ddx42 T A 11: 106,125,679 (GRCm39) V243D probably damaging Het
Dnah14 T C 1: 181,562,414 (GRCm39) V2658A possibly damaging Het
Dnah3 T G 7: 119,677,611 (GRCm39) M437L probably benign Het
Flrt2 T A 12: 95,745,425 (GRCm39) probably benign Het
Gm10142 T A 10: 77,551,880 (GRCm39) C80* probably null Het
Gpr158 A G 2: 21,831,315 (GRCm39) E805G probably damaging Het
Grwd1 T C 7: 45,479,473 (GRCm39) E134G probably benign Het
Hdac11 T A 6: 91,150,068 (GRCm39) V289D probably benign Het
Hsdl1 T C 8: 120,293,081 (GRCm39) E118G possibly damaging Het
Igdcc4 T A 9: 65,041,858 (GRCm39) L1095Q possibly damaging Het
Ildr1 T A 16: 36,528,749 (GRCm39) C65S probably damaging Het
Itgal T C 7: 126,929,422 (GRCm39) F1113S probably damaging Het
Itsn2 G T 12: 4,683,499 (GRCm39) V341F unknown Het
Jak1 G A 4: 101,019,085 (GRCm39) R723C probably damaging Het
Limch1 A G 5: 67,126,422 (GRCm39) T8A probably damaging Het
Limd1 T A 9: 123,345,903 (GRCm39) C561S possibly damaging Het
Map3k19 A G 1: 127,750,097 (GRCm39) F1085L possibly damaging Het
Mcm7 A T 5: 138,164,220 (GRCm39) Y600* probably null Het
Mecom A T 3: 30,033,803 (GRCm39) D300E probably benign Het
Mfap4 T A 11: 61,376,925 (GRCm39) Y51* probably null Het
Mug1 T A 6: 121,833,254 (GRCm39) N286K probably benign Het
Myl2 A T 5: 122,240,783 (GRCm39) R40* probably null Het
Nom1 A G 5: 29,642,623 (GRCm39) S375G probably damaging Het
Nrcam C A 12: 44,598,133 (GRCm39) P368Q probably null Het
Oca2 G C 7: 55,943,623 (GRCm39) Q265H probably null Het
Or52a20 T A 7: 103,366,475 (GRCm39) F225I probably damaging Het
Or52n2c T C 7: 104,574,075 (GRCm39) T299A probably damaging Het
Or5k8 T A 16: 58,644,176 (GRCm39) N299Y possibly damaging Het
Or6c88 A T 10: 129,406,664 (GRCm39) T47S probably damaging Het
Or7a41 G A 10: 78,871,577 (GRCm39) D316N probably benign Het
Palmd T C 3: 116,717,120 (GRCm39) E459G probably benign Het
Pde1a G T 2: 79,695,465 (GRCm39) A494D probably benign Het
Pds5a T C 5: 65,808,587 (GRCm39) Y428C probably damaging Het
Pgm2 T C 5: 64,254,391 (GRCm39) F59L probably benign Het
Plekhm1 A G 11: 103,258,950 (GRCm39) V980A possibly damaging Het
Polb T C 8: 23,118,346 (GRCm39) D318G possibly damaging Het
Rasgef1c T A 11: 49,861,040 (GRCm39) M335K probably damaging Het
Rasgrp4 T C 7: 28,849,687 (GRCm39) S651P probably benign Het
Robo3 A C 9: 37,334,558 (GRCm39) I624S possibly damaging Het
Robo3 T A 9: 37,339,087 (GRCm39) H290L probably benign Het
Rps6kl1 T C 12: 85,183,599 (GRCm39) H482R probably damaging Het
Slc26a9 A T 1: 131,681,691 (GRCm39) E168V probably benign Het
Slc3a2 T C 19: 8,691,226 (GRCm39) probably benign Het
Slc4a4 A T 5: 89,102,723 (GRCm39) K54* probably null Het
Slitrk6 A G 14: 110,988,258 (GRCm39) L483P probably damaging Het
Svep1 T A 4: 58,084,959 (GRCm39) N1793I probably damaging Het
Ttn T C 2: 76,612,723 (GRCm39) I17119V possibly damaging Het
Tulp4 T C 17: 6,274,500 (GRCm39) L617P possibly damaging Het
Uhrf1 A G 17: 56,625,083 (GRCm39) N542S possibly damaging Het
Vmn1r151 T A 7: 22,198,368 (GRCm39) T246S probably damaging Het
Vmn1r57 T A 7: 5,224,069 (GRCm39) V198E probably damaging Het
Vmn2r99 A T 17: 19,598,889 (GRCm39) Q191L probably damaging Het
Vrk3 C T 7: 44,403,356 (GRCm39) T39M possibly damaging Het
Zc3h3 C A 15: 75,681,470 (GRCm39) R537L probably damaging Het
Zfp64 A T 2: 168,793,680 (GRCm39) V22E 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
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
Predicted Primers PCR Primer
(F):5'- GAGAAGCTTGACGGATCCCATC -3'
(R):5'- GATCAAGTTCCCAGCTCCTC -3'

Sequencing Primer
(F):5'- TGGAAACCTTGAAGCAGC -3'
(R):5'- GTCAAGTGGACACTGATCTCTC -3'
Posted On 2022-10-06