Incidental Mutation 'R7104:Zwilch'
ID 551060
Institutional Source Beutler Lab
Gene Symbol Zwilch
Ensembl Gene ENSMUSG00000032400
Gene Name zwilch kinetochore protein
Synonyms 2310031L18Rik
MMRRC Submission 045196-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7104 (G1)
Quality Score 211.009
Status Not validated
Chromosome 9
Chromosomal Location 64044426-64080210 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 64068658 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 203 (S203P)
Ref Sequence ENSEMBL: ENSMUSP00000112790 (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: S203P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112790
Gene: ENSMUSG00000032400
AA Change: S203P

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: S82P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135585
Gene: ENSMUSG00000032400
AA Change: S82P

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: S203P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000134850
Gene: ENSMUSG00000032400
AA Change: S203P

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: S184P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135328
Gene: ENSMUSG00000032400
AA Change: S184P

DomainStartEndE-ValueType
Pfam:DUF2352 19 303 2.2e-93 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl2 A G 2: 90,627,891 (GRCm39) E232G probably damaging Het
Atf7 A G 15: 102,442,670 (GRCm39) S480P probably benign Het
Cdk14 A G 5: 5,245,325 (GRCm39) I166T possibly damaging Het
Cdk5rap2 G T 4: 70,267,393 (GRCm39) F358L probably benign Het
Cplane1 T C 15: 8,223,928 (GRCm39) L897P possibly damaging Het
Cytip A G 2: 58,049,986 (GRCm39) S28P probably benign Het
Dennd5b C T 6: 148,946,102 (GRCm39) R503Q probably damaging Het
Dnajc10 T A 2: 80,171,159 (GRCm39) C480S probably damaging Het
Drc7 A G 8: 95,785,711 (GRCm39) D189G probably damaging Het
Engase G A 11: 118,372,121 (GRCm39) V138M probably damaging Het
Esyt3 C A 9: 99,220,840 (GRCm39) R121L probably damaging Het
Frem1 T G 4: 82,858,918 (GRCm39) I1516L probably benign Het
Gatad2b T A 3: 90,258,724 (GRCm39) I249N probably damaging Het
Grk6 T C 13: 55,602,219 (GRCm39) S383P probably benign Het
Hectd1 C T 12: 51,874,134 (GRCm39) probably null Het
Hipk2 A G 6: 38,795,579 (GRCm39) L230P probably damaging Het
Hivep1 A T 13: 42,310,814 (GRCm39) Q1018L probably benign Het
Itgad T C 7: 127,797,550 (GRCm39) F927S probably benign Het
Itgb3bp A G 4: 99,702,335 (GRCm39) V3A probably damaging Het
Kcnh7 G T 2: 62,618,031 (GRCm39) A486D possibly damaging Het
Krt1c T C 15: 101,723,522 (GRCm39) T318A probably benign Het
Ndrg1 A G 15: 66,818,377 (GRCm39) F77S probably damaging Het
Nlrp4c T A 7: 6,068,708 (GRCm39) L203* probably null Het
Nos1 T A 5: 118,085,496 (GRCm39) C1275S probably damaging Het
Or14a256 T C 7: 86,264,900 (GRCm39) S318G probably null Het
Or4a69 A G 2: 89,313,458 (GRCm39) V7A possibly damaging Het
Or5an9 T C 19: 12,187,242 (GRCm39) I104T possibly damaging Het
Or5d39 T C 2: 87,979,716 (GRCm39) T216A possibly damaging Het
Or5j3 T A 2: 86,128,564 (GRCm39) S135T probably benign Het
Or8b12b A T 9: 37,684,437 (GRCm39) N161Y possibly damaging Het
Pip4k2b T C 11: 97,623,542 (GRCm39) M67V possibly damaging Het
Polq C A 16: 36,909,715 (GRCm39) Y2366* probably null Het
Prg3 T C 2: 84,819,097 (GRCm39) S8P probably benign Het
Prl7c1 A T 13: 27,962,952 (GRCm39) L17* probably null Het
Prl8a8 A T 13: 27,695,479 (GRCm39) S51R probably damaging Het
Pttg1 G C 11: 43,311,976 (GRCm39) P160A probably benign Het
Rbfox1 C A 16: 7,170,867 (GRCm39) R276S possibly damaging Het
Rnase2a T G 14: 51,492,988 (GRCm39) M126L probably benign Het
Secisbp2 A T 13: 51,810,943 (GRCm39) K202* probably null Het
Sema6c A G 3: 95,076,156 (GRCm39) H236R possibly damaging Het
Septin12 A G 16: 4,809,857 (GRCm39) L181P probably damaging Het
Shc3 A T 13: 51,585,241 (GRCm39) V458D possibly damaging Het
Tecta A G 9: 42,278,239 (GRCm39) Y1090H probably benign Het
Thsd7a A T 6: 12,379,429 (GRCm39) N998K Het
Tmem131l A T 3: 83,826,766 (GRCm39) S1184T possibly damaging Het
Tnfsf15 T C 4: 63,647,887 (GRCm39) D251G probably damaging Het
Ttyh3 T C 5: 140,615,540 (GRCm39) E348G probably benign Het
Unc5c T C 3: 141,439,665 (GRCm39) L186P probably damaging Het
Vmn2r37 A T 7: 9,219,045 (GRCm39) N446K probably damaging Het
Vmn2r63 T C 7: 42,577,959 (GRCm39) D193G possibly damaging Het
Vmn2r85 A T 10: 130,262,376 (GRCm39) M121K probably benign Het
Vmn2r88 A G 14: 51,651,253 (GRCm39) D189G Het
Vwc2l C A 1: 70,768,252 (GRCm39) C105* probably null Het
Wdr72 T A 9: 74,055,597 (GRCm39) D275E probably damaging Het
Zfhx4 A T 3: 5,467,549 (GRCm39) D2594V probably damaging Het
Zfp174 C T 16: 3,672,269 (GRCm39) H273Y 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
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
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'- CCAGAGAGCAGGGGATAACT -3'
(R):5'- CCATACCAGTATGCCTAGCTATTTA -3'

Sequencing Primer
(F):5'- AACTCTGCCCTGGCTGATATAAG -3'
(R):5'- TGGAACTCACTCTATAGGCTAGGC -3'
Posted On 2019-05-15