Incidental Mutation 'R4901:Zwilch'
ID 376167
Institutional Source Beutler Lab
Gene Symbol Zwilch
Ensembl Gene ENSMUSG00000032400
Gene Name zwilch kinetochore protein
Synonyms 2310031L18Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4901 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 64044426-64080210 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 64070028 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 101 (Y101C)
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: Y120C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112790
Gene: ENSMUSG00000032400
AA Change: Y120C

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 damaging
Transcript: ENSMUST00000130127
AA Change: Y78C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116187
Gene: ENSMUSG00000032400
AA Change: Y78C

DomainStartEndE-ValueType
Pfam:DUF2352 72 154 8e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176299
SMART Domains Protein: ENSMUSP00000135585
Gene: ENSMUSG00000032400

DomainStartEndE-ValueType
Pfam:DUF2352 1 471 2.9e-192 PFAM
Predicted Effect silent
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: Y120C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134850
Gene: ENSMUSG00000032400
AA Change: Y120C

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: Y101C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135328
Gene: ENSMUSG00000032400
AA Change: Y101C

DomainStartEndE-ValueType
Pfam:DUF2352 19 303 2.2e-93 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 C T 9: 44,188,954 (GRCm39) probably null Het
Arg2 T C 12: 79,194,485 (GRCm39) V103A probably damaging Het
Bicra T A 7: 15,721,526 (GRCm39) T664S possibly damaging Het
Bptf A T 11: 107,001,686 (GRCm39) Y475* probably null Het
Calcrl T C 2: 84,163,857 (GRCm39) I445V probably benign Het
Ccdc110 G A 8: 46,396,437 (GRCm39) R776Q probably benign Het
Ccnc A G 4: 21,727,894 (GRCm39) N4S probably damaging Het
Ccni G A 5: 93,331,003 (GRCm39) R323W probably damaging Het
Celsr2 T A 3: 108,314,303 (GRCm39) M1241L possibly damaging Het
Cpd T C 11: 76,681,707 (GRCm39) I1145M probably damaging Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Cyp2j8 T A 4: 96,367,323 (GRCm39) D265V probably benign Het
Dennd2a T C 6: 39,499,621 (GRCm39) T315A probably benign Het
Dgkz T A 2: 91,767,076 (GRCm39) Q905L probably benign Het
Dnah8 G A 17: 31,059,688 (GRCm39) probably null Het
Elp2 A G 18: 24,752,542 (GRCm39) H365R probably damaging Het
Gm136 G A 4: 34,746,580 (GRCm39) Q144* probably null Het
Gon4l T C 3: 88,815,458 (GRCm39) V2008A possibly damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Isyna1 A T 8: 71,049,246 (GRCm39) H414L probably damaging Het
Kif20b A G 19: 34,911,836 (GRCm39) Y233C probably benign Het
Klk1 A T 7: 43,878,139 (GRCm39) I132F probably damaging Het
Klre1 A T 6: 129,561,188 (GRCm39) H183L probably benign Het
Lrp1b T C 2: 40,711,657 (GRCm39) T3188A probably damaging Het
Mapk12 A T 15: 89,018,841 (GRCm39) L198* probably null Het
Mt4 A C 8: 94,864,912 (GRCm39) T29P possibly damaging Het
Myh14 C T 7: 44,310,464 (GRCm39) V140I probably damaging Het
Nr1h4 T C 10: 89,314,659 (GRCm39) Q269R possibly damaging Het
Or4p23 C G 2: 88,577,231 (GRCm39) probably null Het
Or51e1 A G 7: 102,359,405 (GRCm39) H313R probably benign Het
Pde1b A G 15: 103,435,112 (GRCm39) I421V probably null Het
Pde3b A T 7: 114,107,425 (GRCm39) T519S probably damaging Het
Phf21a T A 2: 92,187,346 (GRCm39) C178* probably null Het
Phtf2 A G 5: 21,010,722 (GRCm39) S88P possibly damaging Het
Pik3c3 A G 18: 30,435,982 (GRCm39) M394V possibly damaging Het
Plxnb1 C T 9: 108,934,027 (GRCm39) P752S probably benign Het
Pp2d1 C A 17: 53,822,037 (GRCm39) G343V probably benign Het
Ppp6r2 A G 15: 89,143,272 (GRCm39) I140V possibly damaging Het
Ppp6r3 C A 19: 3,517,229 (GRCm39) V75L probably damaging Het
Ptprq T A 10: 107,524,275 (GRCm39) H486L probably benign Het
Rasgrf1 C T 9: 89,877,056 (GRCm39) T807M probably benign Het
Rasgrp3 C A 17: 75,821,111 (GRCm39) Y439* probably null Het
Rbm44 A G 1: 91,081,050 (GRCm39) T413A probably benign Het
Rnf135 T C 11: 80,089,662 (GRCm39) C333R probably damaging Het
Scfd2 A G 5: 74,680,226 (GRCm39) V309A probably damaging Het
Semp2l1 T C 1: 32,585,701 (GRCm39) S70G probably benign Het
Serpina3m A T 12: 104,355,908 (GRCm39) K192* probably null Het
Sft2d1rt A G 11: 45,942,656 (GRCm39) S156P probably damaging Het
Sh3tc2 A G 18: 62,123,506 (GRCm39) I756V probably benign Het
Slc27a4 T C 2: 29,702,648 (GRCm39) V516A probably damaging Het
Sult2a5 T A 7: 13,359,188 (GRCm39) C55S probably benign Het
Tars3 C T 7: 65,341,042 (GRCm39) T783M probably benign Het
Tet2 A T 3: 133,172,805 (GRCm39) I1819N possibly damaging Het
Timeless T C 10: 128,086,631 (GRCm39) F1057L probably damaging Het
Ttn T A 2: 76,628,418 (GRCm39) I12835F probably damaging Het
Uhrf1 T A 17: 56,617,834 (GRCm39) D185E probably benign Het
Vmn2r74 G T 7: 85,605,199 (GRCm39) S483* probably null Het
Xpo1 A T 11: 23,231,327 (GRCm39) I304F possibly damaging Het
Zc3h11a A G 1: 133,552,449 (GRCm39) S553P probably benign Het
Zdhhc1 A G 8: 106,199,484 (GRCm39) S402P probably benign Het
Other mutations in Zwilch
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02315:Zwilch APN 9 64,057,549 (GRCm39) missense probably damaging 1.00
IGL02365:Zwilch APN 9 64,068,206 (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
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
Predicted Primers PCR Primer
(F):5'- GTGAGCACATACAGGATAACGCC -3'
(R):5'- CTGGTCTTCTGCAAGAGTAATGC -3'

Sequencing Primer
(F):5'- GATAACGCCTGCAATGATGTC -3'
(R):5'- CTGCTAAAACATCTCTCTAGACTTG -3'
Posted On 2016-03-17