Incidental Mutation 'IGL02818:Zwilch'
ID360876
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? Possibly essential (E-score: 0.596) question?
Stock #IGL02818
Quality Score
Status
Chromosome9
Chromosomal Location64137144-64173104 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 64150227 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 395 (T395I)
Ref Sequence ENSEMBL: ENSMUSP00000134850 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000122091] [ENSMUST00000143421] [ENSMUST00000176299] [ENSMUST00000176794] [ENSMUST00000177045]
Predicted Effect probably damaging
Transcript: ENSMUST00000122091
AA Change: T419I

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000112790
Gene: ENSMUSG00000032400
AA Change: T419I

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: T14I
SMART Domains Protein: ENSMUSP00000115556
Gene: ENSMUSG00000032400
AA Change: T14I

DomainStartEndE-ValueType
Pfam:DUF2352 1 51 7.4e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176299
AA Change: T298I

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000135585
Gene: ENSMUSG00000032400
AA Change: T298I

DomainStartEndE-ValueType
Pfam:DUF2352 1 471 2.9e-192 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000176794
AA Change: T395I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000134850
Gene: ENSMUSG00000032400
AA Change: T395I

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A G 17: 24,300,352 F653S probably benign Het
Acsm2 A G 7: 119,573,581 probably null Het
Aldh2 C T 5: 121,575,125 G256D probably benign Het
Ankfn1 G A 11: 89,538,466 H31Y probably benign Het
BC016579 A T 16: 45,629,502 S184R probably damaging Het
Cd101 A G 3: 101,011,929 L619P probably damaging Het
Clec14a A T 12: 58,268,102 C245S probably damaging Het
Csmd2 T C 4: 128,209,728 C247R probably damaging Het
Csnk2a1 G T 2: 152,274,085 probably benign Het
Dctn1 T C 6: 83,192,514 S637P possibly damaging Het
Dhx40 A T 11: 86,799,505 I230K probably benign Het
Dnah7b T C 1: 46,290,808 Y3271H probably damaging Het
Efcab5 A T 11: 77,105,348 I1129N probably damaging Het
Gaa G T 11: 119,276,848 A445S probably damaging Het
Gldc A G 19: 30,136,509 S498P probably damaging Het
Gm973 T C 1: 59,541,475 probably null Het
Hpdl T C 4: 116,820,242 I341V probably damaging Het
Il23r A G 6: 67,486,094 probably null Het
Kif9 T A 9: 110,485,149 Y76N probably damaging Het
Lct T G 1: 128,300,168 E1196A probably damaging Het
Lrrc37a T C 11: 103,501,306 I1098V possibly damaging Het
Mroh1 A G 15: 76,432,401 probably null Het
Nmrk1 T C 19: 18,641,259 L102P probably damaging Het
Nudcd3 A T 11: 6,150,635 probably benign Het
Ogdh A G 11: 6,348,270 T603A probably benign Het
Olfr1085 T A 2: 86,657,784 I225F probably damaging Het
Olfr527 A T 7: 140,336,606 Y248F possibly damaging Het
Pcsk4 T C 10: 80,322,792 Y542C probably damaging Het
Pkd2l2 T A 18: 34,412,809 W88R probably damaging Het
Ppp1r1b C T 11: 98,351,270 T21I possibly damaging Het
Srebf2 C A 15: 82,185,374 H706N probably damaging Het
Stradb T C 1: 58,979,962 V14A probably damaging Het
Svep1 T C 4: 58,069,804 T2661A possibly damaging Het
Tnn A T 1: 160,116,278 S988R possibly damaging Het
Trpm6 C A 19: 18,866,257 Q1662K probably benign Het
Utp3 T A 5: 88,555,408 Y265* probably null Het
Vwf A G 6: 125,663,548 T2316A probably benign Het
Zfp90 T C 8: 106,424,209 F185L probably benign Het
Other mutations in Zwilch
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02315:Zwilch APN 9 64150267 missense probably damaging 1.00
IGL02365:Zwilch APN 9 64160924 missense probably damaging 1.00
IGL02733:Zwilch APN 9 64146836 missense probably benign 0.12
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
Posted On2015-12-18