Incidental Mutation 'IGL02365:Zwilch'
ID290704
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zwilch
Ensembl Gene ENSMUSG00000032400
Gene Namezwilch kinetochore protein
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02365
Quality Score
Status
Chromosome9
Chromosomal Location64137144-64173104 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 64160924 bp
ZygosityHeterozygous
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]
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
4933400A11Rik T C X: 169,776,530 N272D probably benign Het
Acyp2 A T 11: 30,649,318 V21E probably damaging Het
Adgrl3 A G 5: 81,512,581 D331G probably damaging Het
Arfgef1 A T 1: 10,199,883 I347N probably benign Het
Bfsp1 T G 2: 143,826,736 E647A probably damaging Het
Bhmt A T 13: 93,617,638 N354K probably benign Het
Brinp3 A T 1: 146,901,122 T436S probably benign Het
Cog7 C A 7: 121,977,736 M66I possibly damaging Het
Csf2rb2 A T 15: 78,287,060 M333K possibly damaging Het
Cyp2u1 A G 3: 131,298,229 V214A probably damaging Het
Dcaf5 A T 12: 80,398,773 H177Q probably benign Het
Dchs1 T C 7: 105,755,188 T2716A probably benign Het
Dsc1 T C 18: 20,108,816 Q156R probably damaging Het
Dspp G T 5: 104,176,061 G357W probably damaging Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
Fto T G 8: 91,468,375 S265R probably damaging Het
Gphb5 A G 12: 75,415,817 probably benign Het
Iars T C 13: 49,691,499 V162A probably benign Het
Klk13 A C 7: 43,723,866 K107T possibly damaging Het
Kpna7 T A 5: 144,985,733 D507V possibly damaging Het
Lamb1 A T 12: 31,318,345 E1158V probably damaging Het
Lonp2 A T 8: 86,716,365 D818V possibly damaging Het
Med15 A G 16: 17,671,606 probably benign Het
Olfr470 T A 7: 107,844,912 N274Y probably damaging Het
Olfr810 T C 10: 129,791,535 D18G possibly damaging Het
Olfr965 A T 9: 39,719,674 Y149F possibly damaging Het
Olfr965 G A 9: 39,720,100 S291N probably damaging Het
Plpbp A G 8: 27,045,924 I82V probably benign Het
Ptprcap A G 19: 4,156,268 I117V probably benign Het
Rhox12 T A X: 38,107,881 D88V possibly damaging Het
Rnpc3 A G 3: 113,608,399 S500P probably damaging Het
Sdhd A T 9: 50,598,825 Y84N possibly damaging Het
Sema6d G A 2: 124,656,868 V233I probably benign Het
Vegfb A T 19: 6,985,487 I140N probably benign Het
Vldlr A G 19: 27,245,625 Y732C probably damaging Het
Vmn2r17 T A 5: 109,453,309 F824L probably damaging Het
Xdh A T 17: 73,943,890 N22K probably benign Het
Zc3h11a A C 1: 133,637,413 N249K probably benign Het
Other mutations in Zwilch
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02315:Zwilch APN 9 64150267 missense probably damaging 1.00
IGL02733:Zwilch APN 9 64146836 missense probably benign 0.12
IGL02818:Zwilch APN 9 64150227 missense probably damaging 0.99
R1171:Zwilch UTSW 9 64158717 missense possibly damaging 0.56
R1913:Zwilch UTSW 9 64160952 missense probably damaging 1.00
R2079:Zwilch UTSW 9 64153574 missense probably damaging 1.00
R2079:Zwilch UTSW 9 64153575 missense probably damaging 1.00
R3772:Zwilch UTSW 9 64156034 missense probably benign 0.03
R4171:Zwilch UTSW 9 64158715 nonsense probably null
R4298:Zwilch UTSW 9 64155162 critical splice donor site probably null
R4299:Zwilch UTSW 9 64155162 critical splice donor site probably null
R4901:Zwilch UTSW 9 64162746 missense probably damaging 1.00
R5106:Zwilch UTSW 9 64153584 missense probably damaging 1.00
R5208:Zwilch UTSW 9 64152923 missense probably benign 0.00
R5215:Zwilch UTSW 9 64146874 missense probably benign
R5413:Zwilch UTSW 9 64168610 splice site probably null
R5865:Zwilch UTSW 9 64172908 start gained probably null
R6221:Zwilch UTSW 9 64161383 missense probably damaging 1.00
R6858:Zwilch UTSW 9 64153587 missense probably damaging 1.00
R6957:Zwilch UTSW 9 64162562 critical splice donor site probably null
R6995:Zwilch UTSW 9 64165449 nonsense probably null
R7104:Zwilch UTSW 9 64161376 missense probably damaging 1.00
R7595:Zwilch UTSW 9 64149264 intron probably benign
R7691:Zwilch UTSW 9 64156091 missense probably benign 0.18
R7743:Zwilch UTSW 9 64152935 missense probably damaging 1.00
R8378:Zwilch UTSW 9 64152958 missense possibly damaging 0.94
Posted On2015-04-16