Incidental Mutation 'IGL02365:Zwilch'
ID 290704
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zwilch
Ensembl Gene ENSMUSG00000032400
Gene Name zwilch kinetochore protein
Synonyms 2310031L18Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02365
Quality Score
Status
Chromosome 9
Chromosomal Location 64044426-64080210 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 64068206 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 203 (D203V)
Ref Sequence ENSEMBL: ENSMUSP00000135328 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000122091] [ENSMUST00000130127] [ENSMUST00000176299] [ENSMUST00000176378] [ENSMUST00000176794] [ENSMUST00000177045]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000122091
AA Change: D222V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112790
Gene: ENSMUSG00000032400
AA Change: D222V

DomainStartEndE-ValueType
Pfam:DUF2352 38 589 6e-206 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124301
SMART Domains Protein: ENSMUSP00000134966
Gene: ENSMUSG00000032400

DomainStartEndE-ValueType
PDB:3IF8|A 3 74 3e-31 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000130127
SMART Domains Protein: ENSMUSP00000116187
Gene: ENSMUSG00000032400

DomainStartEndE-ValueType
Pfam:DUF2352 72 154 8e-30 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000176299
AA Change: D101V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135585
Gene: ENSMUSG00000032400
AA Change: D101V

DomainStartEndE-ValueType
Pfam:DUF2352 1 471 2.9e-192 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176378
SMART Domains Protein: ENSMUSP00000134782
Gene: ENSMUSG00000032400

DomainStartEndE-ValueType
PDB:3IF8|A 3 74 1e-31 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000176794
AA Change: D222V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134850
Gene: ENSMUSG00000032400
AA Change: D222V

DomainStartEndE-ValueType
Pfam:DUF2352 38 257 8e-67 PFAM
Pfam:DUF2352 254 568 4.4e-131 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000177045
AA Change: D203V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135328
Gene: ENSMUSG00000032400
AA Change: D203V

DomainStartEndE-ValueType
Pfam:DUF2352 19 303 2.2e-93 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acyp2 A T 11: 30,599,318 (GRCm39) V21E probably damaging Het
Adgrl3 A G 5: 81,660,428 (GRCm39) D331G probably damaging Het
Arfgef1 A T 1: 10,270,108 (GRCm39) I347N probably benign Het
Bfsp1 T G 2: 143,668,656 (GRCm39) E647A probably damaging Het
Bhmt A T 13: 93,754,146 (GRCm39) N354K probably benign Het
Brinp3 A T 1: 146,776,860 (GRCm39) T436S probably benign Het
Capza1b T C X: 168,559,526 (GRCm39) N272D probably benign Het
Cog7 C A 7: 121,576,959 (GRCm39) M66I possibly damaging Het
Csf2rb2 A T 15: 78,171,260 (GRCm39) M333K possibly damaging Het
Cyp2u1 A G 3: 131,091,878 (GRCm39) V214A probably damaging Het
Dcaf5 A T 12: 80,445,547 (GRCm39) H177Q probably benign Het
Dchs1 T C 7: 105,404,395 (GRCm39) T2716A probably benign Het
Dsc1 T C 18: 20,241,873 (GRCm39) Q156R probably damaging Het
Dspp G T 5: 104,323,927 (GRCm39) G357W probably damaging Het
Efr3b C T 12: 4,033,391 (GRCm39) V139I probably benign Het
Fto T G 8: 92,195,003 (GRCm39) S265R probably damaging Het
Gphb5 A G 12: 75,462,591 (GRCm39) probably benign Het
Iars1 T C 13: 49,844,975 (GRCm39) V162A probably benign Het
Klk13 A C 7: 43,373,290 (GRCm39) K107T possibly damaging Het
Kpna7 T A 5: 144,922,543 (GRCm39) D507V possibly damaging Het
Lamb1 A T 12: 31,368,344 (GRCm39) E1158V probably damaging Het
Lonp2 A T 8: 87,442,993 (GRCm39) D818V possibly damaging Het
Med15 A G 16: 17,489,470 (GRCm39) probably benign Het
Or5p51 T A 7: 107,444,119 (GRCm39) N274Y probably damaging Het
Or6c69b T C 10: 129,627,404 (GRCm39) D18G possibly damaging Het
Or8g52 A T 9: 39,630,970 (GRCm39) Y149F possibly damaging Het
Or8g52 G A 9: 39,631,396 (GRCm39) S291N probably damaging Het
Plpbp A G 8: 27,535,952 (GRCm39) I82V probably benign Het
Ptprcap A G 19: 4,206,267 (GRCm39) I117V probably benign Het
Rhox12 T A X: 37,196,758 (GRCm39) D88V possibly damaging Het
Rnpc3 A G 3: 113,402,048 (GRCm39) S500P probably damaging Het
Sdhd A T 9: 50,510,125 (GRCm39) Y84N possibly damaging Het
Sema6d G A 2: 124,498,788 (GRCm39) V233I probably benign Het
Vegfb A T 19: 6,962,855 (GRCm39) I140N probably benign Het
Vldlr A G 19: 27,223,025 (GRCm39) Y732C probably damaging Het
Vmn2r17 T A 5: 109,601,175 (GRCm39) F824L probably damaging Het
Xdh A T 17: 74,250,885 (GRCm39) N22K probably benign Het
Zc3h11a A C 1: 133,565,151 (GRCm39) N249K probably benign Het
Other mutations in Zwilch
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02315:Zwilch APN 9 64,057,549 (GRCm39) missense probably damaging 1.00
IGL02733:Zwilch APN 9 64,054,118 (GRCm39) missense probably benign 0.12
IGL02818:Zwilch APN 9 64,057,509 (GRCm39) missense probably damaging 0.99
R1171:Zwilch UTSW 9 64,065,999 (GRCm39) missense possibly damaging 0.56
R1913:Zwilch UTSW 9 64,068,234 (GRCm39) missense probably damaging 1.00
R2079:Zwilch UTSW 9 64,060,857 (GRCm39) missense probably damaging 1.00
R2079:Zwilch UTSW 9 64,060,856 (GRCm39) missense probably damaging 1.00
R3772:Zwilch UTSW 9 64,063,316 (GRCm39) missense probably benign 0.03
R4171:Zwilch UTSW 9 64,065,997 (GRCm39) nonsense probably null
R4298:Zwilch UTSW 9 64,062,444 (GRCm39) critical splice donor site probably null
R4299:Zwilch UTSW 9 64,062,444 (GRCm39) critical splice donor site probably null
R4901:Zwilch UTSW 9 64,070,028 (GRCm39) missense probably damaging 1.00
R5106:Zwilch UTSW 9 64,060,866 (GRCm39) missense probably damaging 1.00
R5208:Zwilch UTSW 9 64,060,205 (GRCm39) missense probably benign 0.00
R5215:Zwilch UTSW 9 64,054,156 (GRCm39) missense probably benign
R5413:Zwilch UTSW 9 64,075,892 (GRCm39) splice site probably null
R5865:Zwilch UTSW 9 64,080,190 (GRCm39) start gained probably null
R6221:Zwilch UTSW 9 64,068,665 (GRCm39) missense probably damaging 1.00
R6858:Zwilch UTSW 9 64,060,869 (GRCm39) missense probably damaging 1.00
R6957:Zwilch UTSW 9 64,069,844 (GRCm39) critical splice donor site probably null
R6995:Zwilch UTSW 9 64,072,731 (GRCm39) nonsense probably null
R7104:Zwilch UTSW 9 64,068,658 (GRCm39) missense probably damaging 1.00
R7595:Zwilch UTSW 9 64,056,546 (GRCm39) intron probably benign
R7691:Zwilch UTSW 9 64,063,373 (GRCm39) missense probably benign 0.18
R7743:Zwilch UTSW 9 64,060,217 (GRCm39) missense probably damaging 1.00
R8378:Zwilch UTSW 9 64,060,240 (GRCm39) missense possibly damaging 0.94
R9068:Zwilch UTSW 9 64,075,942 (GRCm39) missense probably benign 0.01
R9545:Zwilch UTSW 9 64,051,415 (GRCm39) missense probably damaging 1.00
R9619:Zwilch UTSW 9 64,057,440 (GRCm39) missense probably benign 0.05
R9711:Zwilch UTSW 9 64,063,303 (GRCm39) missense probably damaging 0.99
R9777:Zwilch UTSW 9 64,054,170 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16