Incidental Mutation 'IGL02315:Zwilch'
ID288009
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 #IGL02315
Quality Score
Status
Chromosome9
Chromosomal Location64137144-64173104 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 64150267 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 285 (S285P)
Ref Sequence ENSEMBL: ENSMUSP00000135585 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000122091] [ENSMUST00000143421] [ENSMUST00000176299] [ENSMUST00000176794] [ENSMUST00000177045]
Predicted Effect probably damaging
Transcript: ENSMUST00000122091
AA Change: S406P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112790
Gene: ENSMUSG00000032400
AA Change: S406P

DomainStartEndE-ValueType
Pfam:DUF2352 38 589 6e-206 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138075
Predicted Effect probably benign
Transcript: ENSMUST00000143421
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148428
Predicted Effect unknown
Transcript: ENSMUST00000152824
AA Change: S1P
SMART Domains Protein: ENSMUSP00000115556
Gene: ENSMUSG00000032400
AA Change: S1P

DomainStartEndE-ValueType
Pfam:DUF2352 1 51 7.4e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000176299
AA Change: S285P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135585
Gene: ENSMUSG00000032400
AA Change: S285P

DomainStartEndE-ValueType
Pfam:DUF2352 1 471 2.9e-192 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000176794
AA Change: S382P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000134850
Gene: ENSMUSG00000032400
AA Change: S382P

DomainStartEndE-ValueType
Pfam:DUF2352 38 257 8e-67 PFAM
Pfam:DUF2352 254 568 4.4e-131 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177045
SMART Domains Protein: ENSMUSP00000135328
Gene: ENSMUSG00000032400

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik T A 2: 35,376,173 I162F probably damaging Het
Akap8 T C 17: 32,305,501 D607G probably benign Het
Ap2b1 G A 11: 83,336,799 V327I probably damaging Het
Bmpr1b A G 3: 141,857,529 V218A probably damaging Het
Cfap157 T A 2: 32,778,165 D421V probably benign Het
Ctsm A G 13: 61,539,648 V100A probably benign Het
Cwf19l2 C T 9: 3,410,030 T53I probably damaging Het
Dst T C 1: 34,198,665 C3663R probably damaging Het
Fbxo10 T A 4: 45,062,469 H19L probably benign Het
Ghitm A T 14: 37,131,564 N106K probably benign Het
Hivep2 T C 10: 14,131,239 F1194L probably benign Het
Hpse2 A G 19: 42,966,947 probably benign Het
Ighv1-67 C T 12: 115,604,067 G56D probably benign Het
Ikzf4 A G 10: 128,634,145 F502S probably damaging Het
Lrrc24 A T 15: 76,718,306 F126L probably damaging Het
Mapt G A 11: 104,328,078 R355Q probably damaging Het
Mug1 T A 6: 121,840,167 V65E probably benign Het
Myh6 T C 14: 54,953,834 E850G probably damaging Het
Myh9 C A 15: 77,769,973 V1211L probably benign Het
Naip2 T A 13: 100,161,236 D764V probably damaging Het
Olfr926 G A 9: 38,878,057 V294I probably damaging Het
Parp6 A G 9: 59,641,738 probably benign Het
Ppp4r4 C T 12: 103,600,361 probably benign Het
Pramef6 T C 4: 143,897,928 probably benign Het
Pxylp1 A G 9: 96,839,143 L56P probably damaging Het
Rita1 C T 5: 120,609,793 A147T probably damaging Het
Skida1 T C 2: 18,046,005 probably benign Het
Slc35d2 A G 13: 64,107,035 S210P possibly damaging Het
Slit2 C T 5: 47,987,871 T71M probably damaging Het
Spem2 A T 11: 69,817,365 L258Q probably damaging Het
Stxbp2 C T 8: 3,635,607 probably benign Het
Vit G A 17: 78,622,658 V351I possibly damaging Het
Zzef1 A T 11: 72,875,257 R1537* probably null Het
Other mutations in Zwilch
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02365:Zwilch APN 9 64160924 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