Incidental Mutation 'R6858:Zwilch'
ID 535375
Institutional Source Beutler Lab
Gene Symbol Zwilch
Ensembl Gene ENSMUSG00000032400
Gene Name zwilch kinetochore protein
Synonyms 2310031L18Rik
MMRRC Submission 044960-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6858 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 64044426-64080210 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 64060869 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 328 (D328N)
Ref Sequence ENSEMBL: ENSMUSP00000134850 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000122091] [ENSMUST00000176299] [ENSMUST00000176794] [ENSMUST00000177045]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000122091
AA Change: D352N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112790
Gene: ENSMUSG00000032400
AA Change: D352N

DomainStartEndE-ValueType
Pfam:DUF2352 38 589 6e-206 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152824
SMART Domains Protein: ENSMUSP00000115556
Gene: ENSMUSG00000032400

DomainStartEndE-ValueType
Pfam:DUF2352 1 51 7.4e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000176299
AA Change: D231N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135585
Gene: ENSMUSG00000032400
AA Change: D231N

DomainStartEndE-ValueType
Pfam:DUF2352 1 471 2.9e-192 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000176794
AA Change: D328N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134850
Gene: ENSMUSG00000032400
AA Change: D328N

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 96% (49/51)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldob T C 4: 49,538,796 (GRCm39) T241A probably benign Het
Arid4a A G 12: 71,070,283 (GRCm39) I65V probably benign Het
Bhmt2 C T 13: 93,807,948 (GRCm39) E47K probably damaging Het
Bpifa3 G A 2: 153,979,514 (GRCm39) G213D probably benign Het
C4b C G 17: 34,948,805 (GRCm39) A1548P probably damaging Het
Ccdc39 A G 3: 33,874,017 (GRCm39) V605A probably damaging Het
Cept1 A T 3: 106,420,195 (GRCm39) probably null Het
Cntrl T C 2: 35,052,107 (GRCm39) probably null Het
Col3a1 A G 1: 45,385,144 (GRCm39) D87G probably damaging Het
Crim1 A T 17: 78,623,056 (GRCm39) E418V probably damaging Het
Crtac1 T C 19: 42,307,174 (GRCm39) I196M possibly damaging Het
Crtap T C 9: 114,209,084 (GRCm39) Y320C probably damaging Het
Cttnbp2 A G 6: 18,448,452 (GRCm39) V27A probably damaging Het
Cyp2c69 G A 19: 39,866,009 (GRCm39) L195F probably benign Het
Cyp2d26 G A 15: 82,678,284 (GRCm39) R31C probably damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fign G T 2: 63,810,157 (GRCm39) T371K probably benign Het
Fryl T C 5: 73,222,375 (GRCm39) T2069A probably damaging Het
Gm3486 A G 14: 41,210,322 (GRCm39) I53T probably damaging Het
Gprc5d T C 6: 135,093,313 (GRCm39) N198S possibly damaging Het
Ighv1-42 A G 12: 114,900,966 (GRCm39) S40P probably damaging Het
Itga8 A G 2: 12,204,892 (GRCm39) V515A probably benign Het
Kidins220 A T 12: 25,058,542 (GRCm39) I523L possibly damaging Het
Lmx1a A T 1: 167,660,450 (GRCm39) N245I probably damaging Het
Med22 T C 2: 26,795,949 (GRCm39) D157G possibly damaging Het
Ola1 T C 2: 72,927,574 (GRCm39) H335R probably damaging Het
Or1a1 A T 11: 74,086,925 (GRCm39) M199L probably benign Het
Or4c12 A G 2: 89,774,087 (GRCm39) I124T probably damaging Het
Or6c213 A G 10: 129,574,333 (GRCm39) F151S probably damaging Het
Or7e166 T C 9: 19,624,765 (GRCm39) I214T probably damaging Het
Or8h9 A G 2: 86,789,034 (GRCm39) I256T probably benign Het
Pde1a T A 2: 79,959,502 (GRCm39) probably benign Het
Pdgfrb G A 18: 61,198,219 (GRCm39) G304D probably benign Het
Potegl T C 2: 23,102,676 (GRCm39) V138A possibly damaging Het
Prune2 T A 19: 17,095,470 (GRCm39) C325S possibly damaging Het
Ptk2b T C 14: 66,450,847 (GRCm39) I40V probably damaging Het
Qrich1 A G 9: 108,411,333 (GRCm39) D286G probably damaging Het
Scn5a T C 9: 119,321,156 (GRCm39) I1469V probably benign Het
Serpina3k G A 12: 104,311,504 (GRCm39) A361T possibly damaging Het
Slc25a23 A G 17: 57,365,171 (GRCm39) Y73H probably damaging Het
Tmco3 A G 8: 13,363,924 (GRCm39) D82G probably damaging Het
Trbv28 G T 6: 41,248,624 (GRCm39) M51I probably damaging Het
Unc13b A T 4: 43,165,828 (GRCm39) H204L possibly damaging Het
Vamp5 G A 6: 72,357,424 (GRCm39) probably benign Het
Vmn1r25 T C 6: 57,955,996 (GRCm39) S98G probably benign Het
Vmn2r2 A G 3: 64,044,915 (GRCm39) F77S probably damaging Het
Vmn2r79 A T 7: 86,686,580 (GRCm39) M654L probably benign Het
Zfp985 A T 4: 147,667,764 (GRCm39) K211* probably null 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
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'- TCTCATGCAAACAGCCAAATTT -3'
(R):5'- ATGTCCTTATAGTGCTCAGAATAGT -3'

Sequencing Primer
(F):5'- AGGATCTAAACTGCCTTCTGG -3'
(R):5'- GAATTTCTGAGTTCAAGGCCAGCC -3'
Posted On 2018-09-12