Incidental Mutation 'R8415:Zc3hc1'
ID 652882
Institutional Source Beutler Lab
Gene Symbol Zc3hc1
Ensembl Gene ENSMUSG00000039130
Gene Name zinc finger, C3HC type 1
Synonyms HSPC216, 1110054L24Rik, Nipa
MMRRC Submission 067769-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.546) question?
Stock # R8415 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 30366383-30391019 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 30375951 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 203 (D203G)
Ref Sequence ENSEMBL: ENSMUSP00000079627 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080812] [ENSMUST00000102992] [ENSMUST00000115184] [ENSMUST00000136255] [ENSMUST00000152391]
AlphaFold Q80YV2
Predicted Effect probably damaging
Transcript: ENSMUST00000080812
AA Change: D203G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000079627
Gene: ENSMUSG00000039130
AA Change: D203G

DomainStartEndE-ValueType
Pfam:zf-C3HC 72 201 2e-38 PFAM
low complexity region 216 231 N/A INTRINSIC
Pfam:Rsm1 248 343 6.8e-14 PFAM
low complexity region 406 420 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000102992
AA Change: D203G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000100057
Gene: ENSMUSG00000039130
AA Change: D203G

DomainStartEndE-ValueType
Pfam:zf-C3HC 72 201 2.4e-37 PFAM
low complexity region 216 231 N/A INTRINSIC
Pfam:Rsm1 248 343 2.2e-13 PFAM
low complexity region 406 420 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000115184
AA Change: D203G

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000110838
Gene: ENSMUSG00000039130
AA Change: D203G

DomainStartEndE-ValueType
Pfam:zf-C3HC 72 201 5.9e-38 PFAM
low complexity region 216 231 N/A INTRINSIC
Pfam:Rsm1 248 339 8.6e-14 PFAM
Pfam:Rsm1 331 394 4.6e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000136255
Predicted Effect probably benign
Transcript: ENSMUST00000147990
Predicted Effect possibly damaging
Transcript: ENSMUST00000152391
AA Change: D203G

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000135447
Gene: ENSMUSG00000039130
AA Change: D203G

DomainStartEndE-ValueType
Pfam:zf-C3HC 72 201 9e-38 PFAM
low complexity region 216 231 N/A INTRINSIC
low complexity region 364 378 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an F-box-containing protein that is a component of an SCF-type E3 ubiquitin ligase complex that regulates the onset of cell division. The G2/M transition in the cell cycle requires the interaction of the proteins cyclin B1 and cyclin-dependent kinase 1. The activated ubiquitin ligase complex targets the protein cyclin B1 for degradation, preventing this transition to mitosis. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice homozygous for a null mutation display partial lethality with male infertility, reduced female fertility, arrest of meiosis, impaired synaptonemal complex formation and delayed double strand DNA break repair. [provided by MGI curators]
Allele List at MGI

All alleles(12) : Targeted, other(2) Gene trapped(10)
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd24 A G 10: 81,475,947 (GRCm39) H317R unknown Het
Aox1 A T 1: 58,080,638 (GRCm39) Y29F probably damaging Het
Bnip2 T C 9: 69,910,967 (GRCm39) F304S possibly damaging Het
Bsn G A 9: 107,988,651 (GRCm39) A2367V probably benign Het
Ccdc18 T A 5: 108,363,899 (GRCm39) V1198E probably damaging Het
Cnot3 T C 7: 3,661,687 (GRCm39) F660L probably benign Het
Cntnap3 A G 13: 64,886,479 (GRCm39) I1249T probably benign Het
Ctnna3 A G 10: 63,339,909 (GRCm39) I32V probably benign Het
Dgkz A T 2: 91,770,649 (GRCm39) S485T possibly damaging Het
Dnaaf6rt A G 1: 31,262,564 (GRCm39) N182S probably benign Het
Dpagt1 C A 9: 44,238,482 (GRCm39) N49K possibly damaging Het
Dsg3 A T 18: 20,656,765 (GRCm39) S212C probably damaging Het
Epb41l1 C T 2: 156,368,873 (GRCm39) A714V probably benign Het
Eppk1 A G 15: 75,995,831 (GRCm39) V350A probably benign Het
Frem1 T G 4: 82,918,499 (GRCm39) D481A probably damaging Het
Git2 T C 5: 114,871,989 (GRCm39) K532E possibly damaging Het
Glyr1 T C 16: 4,854,329 (GRCm39) H102R probably benign Het
Hdgfl2 C T 17: 56,400,712 (GRCm39) P160L probably benign Het
Hivep1 T C 13: 42,308,905 (GRCm39) S382P probably benign Het
Hmcn2 C A 2: 31,281,088 (GRCm39) L1867I probably benign Het
Hydin G A 8: 111,178,626 (GRCm39) G1074R probably damaging Het
Ift140 A G 17: 25,311,889 (GRCm39) I1271V probably damaging Het
Krt28 T A 11: 99,265,626 (GRCm39) I14L probably benign Het
Lrtm2 A T 6: 119,294,458 (GRCm39) D224E probably damaging Het
Map1s G A 8: 71,365,910 (GRCm39) V272M probably damaging Het
Mast3 A G 8: 71,233,866 (GRCm39) Y960H probably damaging Het
Mettl25 G T 10: 105,662,002 (GRCm39) Q323K probably benign Het
Mlh3 A T 12: 85,315,854 (GRCm39) S111T probably benign Het
Muc17 A G 5: 137,172,798 (GRCm39) L85P Het
Myh6 C G 14: 55,181,835 (GRCm39) R1822P probably damaging Het
Myof C T 19: 37,983,872 (GRCm39) G144E probably benign Het
Nat8f2 A G 6: 85,845,024 (GRCm39) S113P probably damaging Het
Nlrp9a A T 7: 26,256,925 (GRCm39) Y181F probably benign Het
Nup85 A G 11: 115,457,468 (GRCm39) I57V probably benign Het
Or4c99 T A 2: 88,329,710 (GRCm39) C94S probably damaging Het
Or5p79 C T 7: 108,221,163 (GRCm39) T48I probably damaging Het
Or7e170 T A 9: 19,795,409 (GRCm39) Y64F possibly damaging Het
Pcdhb2 A G 18: 37,429,110 (GRCm39) N361S probably damaging Het
Peg10 T TCCA 6: 4,756,451 (GRCm39) probably benign Het
Phf20 C T 2: 156,129,913 (GRCm39) T495M probably benign Het
Pitpnm1 T C 19: 4,155,454 (GRCm39) M368T probably benign Het
Pter A G 2: 13,005,700 (GRCm39) D291G probably damaging Het
Rasgrp2 T G 19: 6,454,781 (GRCm39) V207G probably damaging Het
Rnd2 A T 11: 101,362,011 (GRCm39) Q188L probably benign Het
Sh3d19 T A 3: 85,992,363 (GRCm39) D130E probably benign Het
Slc7a2 A T 8: 41,369,396 (GRCm39) Y617F probably damaging Het
Snx29 T C 16: 11,265,291 (GRCm39) L165P probably damaging Het
St7 T C 6: 17,848,080 (GRCm39) probably null Het
Tas2r115 A G 6: 132,714,798 (GRCm39) L51P probably damaging Het
Tead1 C A 7: 112,456,135 (GRCm39) P164Q probably benign Het
Thop1 A G 10: 80,914,385 (GRCm39) Y224C probably damaging Het
Twf1 T C 15: 94,477,702 (GRCm39) *351W probably null Het
Uck1 C A 2: 32,150,153 (GRCm39) probably benign Het
Utp20 A G 10: 88,662,466 (GRCm39) probably null Het
Vmn2r118 G T 17: 55,915,057 (GRCm39) L530I probably benign Het
Vmn2r30 A T 7: 7,315,359 (GRCm39) C825S probably damaging Het
Vps13d A T 4: 144,818,549 (GRCm39) M3106K Het
Wfdc15a A T 2: 164,041,671 (GRCm39) C51S probably damaging Het
Zfhx2 G T 14: 55,308,079 (GRCm39) D932E probably benign Het
Zfp267 G A 3: 36,219,182 (GRCm39) G402S probably damaging Het
Other mutations in Zc3hc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01571:Zc3hc1 APN 6 30,390,862 (GRCm39) missense probably benign 0.43
IGL01843:Zc3hc1 APN 6 30,372,729 (GRCm39) splice site probably benign
IGL02358:Zc3hc1 APN 6 30,376,057 (GRCm39) missense probably benign 0.04
IGL02379:Zc3hc1 APN 6 30,390,974 (GRCm39) missense probably benign 0.38
IGL02567:Zc3hc1 APN 6 30,374,848 (GRCm39) missense probably benign
F6893:Zc3hc1 UTSW 6 30,387,525 (GRCm39) missense probably benign 0.07
R0376:Zc3hc1 UTSW 6 30,372,789 (GRCm39) missense probably damaging 1.00
R0532:Zc3hc1 UTSW 6 30,374,929 (GRCm39) splice site probably benign
R1521:Zc3hc1 UTSW 6 30,376,024 (GRCm39) missense probably benign 0.00
R1690:Zc3hc1 UTSW 6 30,390,940 (GRCm39) missense probably damaging 0.96
R1861:Zc3hc1 UTSW 6 30,374,837 (GRCm39) missense probably benign
R3085:Zc3hc1 UTSW 6 30,374,763 (GRCm39) critical splice donor site probably null
R4619:Zc3hc1 UTSW 6 30,387,523 (GRCm39) missense probably benign 0.27
R4721:Zc3hc1 UTSW 6 30,374,899 (GRCm39) missense probably benign 0.03
R4847:Zc3hc1 UTSW 6 30,375,981 (GRCm39) missense probably benign 0.18
R5000:Zc3hc1 UTSW 6 30,375,987 (GRCm39) missense possibly damaging 0.67
R5870:Zc3hc1 UTSW 6 30,382,682 (GRCm39) nonsense probably null
R7195:Zc3hc1 UTSW 6 30,382,547 (GRCm39) missense probably benign 0.43
R7922:Zc3hc1 UTSW 6 30,390,874 (GRCm39) missense possibly damaging 0.49
R8164:Zc3hc1 UTSW 6 30,390,895 (GRCm39) missense probably damaging 1.00
R8926:Zc3hc1 UTSW 6 30,374,887 (GRCm39) missense possibly damaging 0.84
Predicted Primers PCR Primer
(F):5'- ATGGAAATCATCTACTCCCACC -3'
(R):5'- TCTTAATACCTTCAACTGTCCATTGT -3'

Sequencing Primer
(F):5'- ACCCTCCACTACTGCCATTTTGG -3'
(R):5'- ACCTTCAACTGTCCATTGTACATATC -3'
Posted On 2020-10-20