Incidental Mutation 'R5870:Zc3hc1'
ID 455118
Institutional Source Beutler Lab
Gene Symbol Zc3hc1
Ensembl Gene ENSMUSG00000039130
Gene Name zinc finger, C3HC type 1
Synonyms HSPC216, 1110054L24Rik, Nipa
MMRRC Submission 044078-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.546) question?
Stock # R5870 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 30366383-30391019 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 30382682 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 88 (L88*)
Ref Sequence ENSEMBL: ENSMUSP00000135447 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080812] [ENSMUST00000102992] [ENSMUST00000115184] [ENSMUST00000152391] [ENSMUST00000136255]
AlphaFold Q80YV2
Predicted Effect probably null
Transcript: ENSMUST00000080812
AA Change: L88*
SMART Domains Protein: ENSMUSP00000079627
Gene: ENSMUSG00000039130
AA Change: L88*

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 noncoding transcript
Transcript: ENSMUST00000083728
Predicted Effect probably null
Transcript: ENSMUST00000102992
AA Change: L88*
SMART Domains Protein: ENSMUSP00000100057
Gene: ENSMUSG00000039130
AA Change: L88*

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 null
Transcript: ENSMUST00000115184
AA Change: L88*
SMART Domains Protein: ENSMUSP00000110838
Gene: ENSMUSG00000039130
AA Change: L88*

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 noncoding transcript
Transcript: ENSMUST00000126945
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129796
Predicted Effect probably null
Transcript: ENSMUST00000152391
AA Change: L88*
SMART Domains Protein: ENSMUSP00000135447
Gene: ENSMUSG00000039130
AA Change: L88*

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152101
Predicted Effect probably benign
Transcript: ENSMUST00000136255
Predicted Effect probably benign
Transcript: ENSMUST00000147990
Meta Mutation Damage Score 0.9713 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.2%
  • 20x: 91.1%
Validation Efficiency 93% (84/90)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy9 A G 16: 4,236,232 (GRCm39) V156A probably damaging Het
Ak6 C A 13: 100,791,932 (GRCm39) P125Q probably damaging Het
Aqp4 A C 18: 15,532,946 (GRCm39) V49G probably damaging Het
Arfgef1 A G 1: 10,251,163 (GRCm39) I874T probably damaging Het
Arid1a T C 4: 133,408,387 (GRCm39) D2040G unknown Het
Atp1a3 T G 7: 24,697,003 (GRCm39) D220A probably benign Het
C2cd4c A T 10: 79,448,043 (GRCm39) I368N possibly damaging Het
Ccnt1 G A 15: 98,441,394 (GRCm39) Q625* probably null Het
Cd177 T A 7: 24,455,757 (GRCm39) H255L probably benign Het
Cdipt G A 7: 126,578,094 (GRCm39) V114M probably benign Het
Coro1b T A 19: 4,199,384 (GRCm39) H14Q probably damaging Het
Ctdp1 T A 18: 80,451,901 (GRCm39) D158V unknown Het
Cts7 A T 13: 61,503,545 (GRCm39) S140T probably damaging Het
Dlgap3 T A 4: 127,089,502 (GRCm39) L366* probably null Het
Dnah9 C T 11: 65,976,036 (GRCm39) A1338T probably benign Het
Dock7 T C 4: 98,952,199 (GRCm39) I424V probably benign Het
Dock8 G T 19: 25,109,490 (GRCm39) A891S probably benign Het
Dync2i1 A G 12: 116,219,865 (GRCm39) S26P possibly damaging Het
Elmod3 A G 6: 72,571,721 (GRCm39) probably null Het
Eps15 G A 4: 109,218,507 (GRCm39) E107K probably damaging Het
Esco1 A T 18: 10,593,744 (GRCm39) probably null Het
Fuz A G 7: 44,549,742 (GRCm39) T407A probably damaging Het
Galr1 A T 18: 82,424,197 (GRCm39) F27I probably benign Het
Glt1d1 A G 5: 127,754,344 (GRCm39) Y182C probably damaging Het
Gm37240 A T 3: 84,597,828 (GRCm39) probably benign Het
Gm37610 A G 6: 41,061,848 (GRCm39) noncoding transcript Het
Gm6658 G T 8: 91,635,020 (GRCm39) probably benign Het
Gm9376 A G 14: 118,504,789 (GRCm39) T74A possibly damaging Het
Hadha G A 5: 30,349,284 (GRCm39) S109F possibly damaging Het
Herc3 A T 6: 58,893,435 (GRCm39) Q899L probably benign Het
Ift172 C T 5: 31,434,284 (GRCm39) E485K probably benign Het
Lrrc8e A G 8: 4,285,725 (GRCm39) K650R possibly damaging Het
Ly6d A T 15: 74,635,381 (GRCm39) V10D possibly damaging Het
Med27 A G 2: 29,279,823 (GRCm39) probably null Het
Med29 A T 7: 28,091,922 (GRCm39) V56E probably damaging Het
Mobp A G 9: 119,996,919 (GRCm39) K17E probably damaging Het
Mrpl37 G A 4: 106,923,919 (GRCm39) T25I probably benign Het
Myh1 A G 11: 67,092,805 (GRCm39) D33G possibly damaging Het
Nrg3 T A 14: 39,194,586 (GRCm39) I58F possibly damaging Het
Or52e2 A G 7: 102,804,948 (GRCm39) I2T probably benign Het
Or7e176 A G 9: 20,171,874 (GRCm39) D246G probably benign Het
Padi1 T A 4: 140,553,892 (GRCm39) D359V probably benign Het
Pcdh7 T C 5: 57,877,753 (GRCm39) V436A possibly damaging Het
Pgm3 C A 9: 86,452,414 (GRCm39) K15N probably damaging Het
Phip A T 9: 82,790,730 (GRCm39) probably benign Het
Pot1a G A 6: 25,778,950 (GRCm39) T48I possibly damaging Het
Ppic T C 18: 53,542,333 (GRCm39) K125R probably benign Het
Ppm1j T C 3: 104,692,811 (GRCm39) V440A possibly damaging Het
Prg4 T A 1: 150,331,300 (GRCm39) K458* probably null Het
Rd3 A T 1: 191,717,261 (GRCm39) M244L probably benign Het
Rflnb A G 11: 75,912,864 (GRCm39) Y175H probably benign Het
Rnf157 T A 11: 116,237,900 (GRCm39) S574C probably benign Het
Sardh A G 2: 27,110,653 (GRCm39) probably null Het
Senp3 C T 11: 69,569,048 (GRCm39) probably null Het
Siglec1 G A 2: 130,914,767 (GRCm39) R1450C probably damaging Het
Sim2 A G 16: 93,924,193 (GRCm39) H446R probably damaging Het
Spon1 T C 7: 113,631,021 (GRCm39) I444T probably damaging Het
Srebf1 T A 11: 60,094,410 (GRCm39) Q568H possibly damaging Het
Stxbp4 A T 11: 90,428,782 (GRCm39) I441N possibly damaging Het
Sugt1 G A 14: 79,846,451 (GRCm39) V163I probably benign Het
Surf1 G T 2: 26,806,271 (GRCm39) probably benign Het
Synj2 A G 17: 6,088,128 (GRCm39) E1348G probably benign Het
Tc2n A T 12: 101,619,111 (GRCm39) V349D probably damaging Het
Ten1 A G 11: 116,105,751 (GRCm39) R112G possibly damaging Het
Tm9sf4 A G 2: 153,036,201 (GRCm39) D321G probably damaging Het
Ttll12 A T 15: 83,461,237 (GRCm39) M594K probably damaging Het
Ttn T A 2: 76,703,058 (GRCm39) probably benign Het
Usp28 C T 9: 48,937,285 (GRCm39) Q185* probably null Het
Vmn2r112 A G 17: 22,838,004 (GRCm39) I822V probably benign Het
Zfr T A 15: 12,160,701 (GRCm39) V758D probably damaging Het
Zfyve27 T G 19: 42,160,110 (GRCm39) L42R probably benign 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
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
R8415:Zc3hc1 UTSW 6 30,375,951 (GRCm39) missense probably damaging 0.99
R8926:Zc3hc1 UTSW 6 30,374,887 (GRCm39) missense possibly damaging 0.84
Predicted Primers PCR Primer
(F):5'- ATTGCTAAGATAGACGGCCAG -3'
(R):5'- TGTGCCCCTGTACATGCAAG -3'

Sequencing Primer
(F):5'- ATAGTAGGCACGTGCTCTACC -3'
(R):5'- GCAAGCATGTACACATGTG -3'
Posted On 2017-02-10