Incidental Mutation 'R5767:Zc3h8'
ID 446317
Institutional Source Beutler Lab
Gene Symbol Zc3h8
Ensembl Gene ENSMUSG00000027387
Gene Name zinc finger CCCH type containing 8
Synonyms E130108N08Rik, Fliz1
MMRRC Submission 043367-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.953) question?
Stock # R5767 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 128768188-128785997 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 128772812 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 225 (C225*)
Ref Sequence ENSEMBL: ENSMUSP00000028866 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028866]
AlphaFold Q9JJ48
Predicted Effect probably null
Transcript: ENSMUST00000028866
AA Change: C225*
SMART Domains Protein: ENSMUSP00000028866
Gene: ENSMUSG00000027387
AA Change: C225*

DomainStartEndE-ValueType
low complexity region 33 48 N/A INTRINSIC
low complexity region 67 79 N/A INTRINSIC
low complexity region 134 159 N/A INTRINSIC
ZnF_C3H1 206 231 1.92e-2 SMART
ZnF_C3H1 235 260 6.99e-5 SMART
ZnF_C3H1 262 284 9.88e0 SMART
Meta Mutation Damage Score 0.9756 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 98% (52/53)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr6 A T 10: 89,562,617 (GRCm39) D87E probably damaging Het
AI429214 TCCCTGATGAAC TC 8: 37,461,383 (GRCm39) probably null Het
Ano3 A T 2: 110,491,616 (GRCm39) Y887N probably damaging Het
Arid4a A G 12: 71,106,867 (GRCm39) D313G probably damaging Het
Armc2 A G 10: 41,887,923 (GRCm39) V20A probably benign Het
Bltp3b A G 10: 89,623,061 (GRCm39) D312G possibly damaging Het
C2 T A 17: 35,095,432 (GRCm39) N171I possibly damaging Het
Cdh1 C A 8: 107,395,187 (GRCm39) N865K probably damaging Het
Cep89 T A 7: 35,117,070 (GRCm39) V224E probably damaging Het
Cfap251 G A 5: 123,436,584 (GRCm39) V1038I probably benign Het
Dennd2d C T 3: 106,395,131 (GRCm39) probably benign Het
Diaph1 T A 18: 37,986,408 (GRCm39) K1157N probably damaging Het
Dsg4 T A 18: 20,595,549 (GRCm39) L584* probably null Het
Exoc4 G A 6: 33,895,367 (GRCm39) A795T probably benign Het
Fbln5 A T 12: 101,731,468 (GRCm39) I242N probably damaging Het
Gls2 A G 10: 128,041,090 (GRCm39) H394R probably damaging Het
Gm27013 C T 6: 130,652,921 (GRCm39) C847Y possibly damaging Het
Ifna5 C A 4: 88,754,036 (GRCm39) T92K possibly damaging Het
Ireb2 A G 9: 54,807,800 (GRCm39) M674V probably benign Het
Itga2 C T 13: 114,976,106 (GRCm39) V1089M possibly damaging Het
Kctd16 A T 18: 40,391,922 (GRCm39) Y170F probably benign Het
Kif15 A G 9: 122,843,039 (GRCm39) N45D possibly damaging Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Mink1 A G 11: 70,496,901 (GRCm39) K420E possibly damaging Het
Ms4a14 G T 19: 11,279,391 (GRCm39) Q1056K probably benign Het
Or11g1 T C 14: 50,651,235 (GRCm39) V78A possibly damaging Het
Or5k8 T C 16: 58,644,316 (GRCm39) Y252C probably benign Het
Or8k21 T A 2: 86,144,742 (GRCm39) E296V probably damaging Het
Ovch2 T C 7: 107,381,185 (GRCm39) E571G probably benign Het
Pmel T C 10: 128,550,250 (GRCm39) V95A probably damaging Het
Ptger2 G T 14: 45,226,599 (GRCm39) G60C probably benign Het
Ranbp2 T G 10: 58,312,647 (GRCm39) S1122R probably benign Het
Rasal2 T C 1: 157,003,732 (GRCm39) D309G probably damaging Het
Rcc2 T A 4: 140,443,230 (GRCm39) C303S probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Serpini1 C T 3: 75,520,388 (GRCm39) probably benign Het
Sgo2a G T 1: 58,058,819 (GRCm39) E1133* probably null Het
Slc22a30 G A 19: 8,321,757 (GRCm39) Q436* probably null Het
Smarcc1 G A 9: 109,961,251 (GRCm39) probably benign Het
Tbcd A G 11: 121,483,518 (GRCm39) E749G probably benign Het
Tmc3 G A 7: 83,249,190 (GRCm39) A260T probably benign Het
Tnfrsf21 A G 17: 43,348,550 (GRCm39) Y54C probably damaging Het
Urb1 T A 16: 90,573,051 (GRCm39) M994L probably benign Het
Usp14 A T 18: 10,009,935 (GRCm39) probably benign Het
Vps13a T C 19: 16,641,928 (GRCm39) Y2233C probably damaging Het
Wnt2 G T 6: 17,990,027 (GRCm39) A290E probably damaging Het
Other mutations in Zc3h8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02530:Zc3h8 APN 2 128,785,846 (GRCm39) utr 5 prime probably benign
R1251:Zc3h8 UTSW 2 128,777,289 (GRCm39) missense probably benign 0.02
R1657:Zc3h8 UTSW 2 128,771,877 (GRCm39) critical splice acceptor site probably benign
R5304:Zc3h8 UTSW 2 128,770,835 (GRCm39) missense probably benign
R5840:Zc3h8 UTSW 2 128,771,824 (GRCm39) missense probably benign 0.00
R6174:Zc3h8 UTSW 2 128,785,775 (GRCm39) nonsense probably null
R7090:Zc3h8 UTSW 2 128,777,241 (GRCm39) missense possibly damaging 0.52
R7468:Zc3h8 UTSW 2 128,775,215 (GRCm39) missense probably benign 0.00
R7660:Zc3h8 UTSW 2 128,772,742 (GRCm39) missense probably damaging 0.96
R8725:Zc3h8 UTSW 2 128,775,207 (GRCm39) missense probably benign
R9514:Zc3h8 UTSW 2 128,773,223 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGAACAGACCTGTACGTTAAGAG -3'
(R):5'- AAGTTTTAGAAGTGCAGCAGGC -3'

Sequencing Primer
(F):5'- GGGCTTAAACAGAACACCTTTG -3'
(R):5'- CTGAGTCATGTGCTCAGATGC -3'
Posted On 2016-11-21