Incidental Mutation 'R4449:Zcchc3'
ID 328865
Institutional Source Beutler Lab
Gene Symbol Zcchc3
Ensembl Gene ENSMUSG00000074682
Gene Name zinc finger, CCHC domain containing 3
Synonyms 2810406K24Rik
MMRRC Submission 041710-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.134) question?
Stock # R4449 (G1)
Quality Score 186
Status Validated
Chromosome 2
Chromosomal Location 152253875-152256711 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 152256642 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Arginine at position 19 (P19R)
Ref Sequence ENSEMBL: ENSMUSP00000096813 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039961] [ENSMUST00000099207]
AlphaFold Q8BPK2
Predicted Effect probably benign
Transcript: ENSMUST00000039961
SMART Domains Protein: ENSMUSP00000037024
Gene: ENSMUSG00000032680

DomainStartEndE-ValueType
Pfam:DUF4618 96 353 4.1e-105 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000099207
AA Change: P19R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000096813
Gene: ENSMUSG00000074682
AA Change: P19R

DomainStartEndE-ValueType
low complexity region 63 80 N/A INTRINSIC
Blast:Pept_C1 163 304 9e-20 BLAST
ZnF_C2HC 331 347 4.18e-2 SMART
ZnF_C2HC 349 365 3.3e-3 SMART
ZnF_C2HC 368 384 4.34e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157514
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 98% (47/48)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arfgap3 A T 15: 83,218,759 (GRCm39) Y105N probably damaging Het
Arid3b T A 9: 57,705,404 (GRCm39) K266* probably null Het
Bend3 A G 10: 43,388,079 (GRCm39) E824G possibly damaging Het
Bpifb6 A G 2: 153,748,688 (GRCm39) E228G possibly damaging Het
Cadm1 T A 9: 47,725,286 (GRCm39) probably benign Het
Cadm1 C T 9: 47,441,735 (GRCm39) A22V possibly damaging Het
Cntrob C A 11: 69,196,375 (GRCm39) D687Y probably benign Het
Dap3 A T 3: 88,857,185 (GRCm39) probably benign Het
Ddc T C 11: 11,785,802 (GRCm39) D295G probably damaging Het
Fut10 T A 8: 31,726,285 (GRCm39) Y347N probably damaging Het
Galnt2 A G 8: 125,022,116 (GRCm39) D14G probably benign Het
Gm10722 A C 9: 3,001,041 (GRCm39) Y39S probably benign Het
Helz T C 11: 107,494,989 (GRCm39) V321A probably benign Het
Hnrnpul1 T C 7: 25,421,709 (GRCm39) probably benign Het
Hsdl2 T A 4: 59,617,692 (GRCm39) I353K possibly damaging Het
Igkv3-2 G A 6: 70,675,825 (GRCm39) A45T probably benign Het
Kcnh6 A G 11: 105,909,762 (GRCm39) Y429C probably damaging Het
Luzp1 T A 4: 136,268,174 (GRCm39) N132K probably damaging Het
Mlycd T A 8: 120,137,144 (GRCm39) Y455N probably damaging Het
Myl7 C T 11: 5,847,354 (GRCm39) D115N probably damaging Het
Or52s1 A T 7: 102,861,687 (GRCm39) I196F probably benign Het
Pcdh7 A G 5: 57,877,827 (GRCm39) T461A probably damaging Het
Pi4kb C T 3: 94,892,046 (GRCm39) S254L probably benign Het
Pitpnc1 A G 11: 107,107,535 (GRCm39) V257A probably benign Het
Prpf40b A G 15: 99,212,544 (GRCm39) D596G probably damaging Het
Rngtt T C 4: 33,330,865 (GRCm39) F156S probably damaging Het
Sema3c A G 5: 17,781,844 (GRCm39) probably benign Het
Shisa6 T C 11: 66,416,244 (GRCm39) T183A probably benign Het
Skint3 T A 4: 112,127,206 (GRCm39) V287E possibly damaging Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Slc17a3 A T 13: 24,040,715 (GRCm39) S392C probably damaging Het
Snx14 T C 9: 88,305,052 (GRCm39) I81V probably benign Het
Tdrd6 C T 17: 43,940,626 (GRCm39) G141S probably benign Het
Trappc12 A T 12: 28,797,234 (GRCm39) D99E probably benign Het
Trim34b T C 7: 103,984,935 (GRCm39) C318R probably benign Het
Ttc39a T C 4: 109,299,500 (GRCm39) I449T possibly damaging Het
Twsg1 A C 17: 66,233,305 (GRCm39) V215G possibly damaging Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Ubr1 A G 2: 120,776,862 (GRCm39) V293A possibly damaging Het
Unk G A 11: 115,944,460 (GRCm39) G404S probably damaging Het
Virma T C 4: 11,498,828 (GRCm39) probably null Het
Vps13b T C 15: 35,876,939 (GRCm39) V2864A possibly damaging Het
Wdfy4 T A 14: 32,818,040 (GRCm39) R1492W probably damaging Het
Other mutations in Zcchc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01681:Zcchc3 APN 2 152,255,925 (GRCm39) missense probably damaging 0.97
R1915:Zcchc3 UTSW 2 152,255,601 (GRCm39) missense probably benign
R1968:Zcchc3 UTSW 2 152,256,012 (GRCm39) missense probably damaging 0.97
R5437:Zcchc3 UTSW 2 152,256,652 (GRCm39) missense probably benign 0.03
R5867:Zcchc3 UTSW 2 152,256,444 (GRCm39) missense probably damaging 0.98
R7269:Zcchc3 UTSW 2 152,256,294 (GRCm39) missense probably benign 0.06
R7468:Zcchc3 UTSW 2 152,256,615 (GRCm39) missense probably benign
R9710:Zcchc3 UTSW 2 152,256,385 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TTTCCTGTAAGCGTCTGACG -3'
(R):5'- CACGCAAGACTTCCAAGAGG -3'

Sequencing Primer
(F):5'- TCTGACGCCTCACCCGTAG -3'
(R):5'- AAGCGTCGGGTTTCAGAGC -3'
Posted On 2015-07-21