Incidental Mutation 'R4619:Zc3hc1'
ID 345163
Institutional Source Beutler Lab
Gene Symbol Zc3hc1
Ensembl Gene ENSMUSG00000039130
Gene Name zinc finger, C3HC type 1
Synonyms HSPC216, 1110054L24Rik, Nipa
MMRRC Submission 041885-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.521) question?
Stock # R4619 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 30366383-30391019 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 30387523 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 52 (T52I)
Ref Sequence ENSEMBL: ENSMUSP00000100057 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080812] [ENSMUST00000102992] [ENSMUST00000115184] [ENSMUST00000136255] [ENSMUST00000152391]
AlphaFold Q80YV2
Predicted Effect probably benign
Transcript: ENSMUST00000080812
AA Change: T52I

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000079627
Gene: ENSMUSG00000039130
AA Change: T52I

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 benign
Transcript: ENSMUST00000102992
AA Change: T52I

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000100057
Gene: ENSMUSG00000039130
AA Change: T52I

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 benign
Transcript: ENSMUST00000115184
AA Change: T52I

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000110838
Gene: ENSMUSG00000039130
AA Change: T52I

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 benign
Transcript: ENSMUST00000136255
Predicted Effect probably benign
Transcript: ENSMUST00000147990
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152101
Predicted Effect probably benign
Transcript: ENSMUST00000152391
AA Change: T52I

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000135447
Gene: ENSMUSG00000039130
AA Change: T52I

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 100% (74/74)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik G A 3: 137,775,520 (GRCm39) V1570I probably damaging Het
Alx4 A G 2: 93,473,106 (GRCm39) R35G probably damaging Het
Apod T C 16: 31,116,211 (GRCm39) D173G probably benign Het
Atp8b3 G A 10: 80,361,858 (GRCm39) T731I possibly damaging Het
Birc6 A C 17: 74,947,145 (GRCm39) T2955P probably benign Het
Cdh15 G A 8: 123,587,612 (GRCm39) D179N probably damaging Het
Cntnap5c G T 17: 58,717,263 (GRCm39) V1282L probably benign Het
Crocc2 G A 1: 93,141,372 (GRCm39) R1175H probably benign Het
Dbh A G 2: 27,064,836 (GRCm39) D349G probably damaging Het
Dync1h1 A G 12: 110,605,278 (GRCm39) I2372V probably benign Het
Fer1l4 A T 2: 155,889,007 (GRCm39) W389R probably damaging Het
Fndc1 T C 17: 7,984,036 (GRCm39) T1297A unknown Het
Gart T C 16: 91,422,321 (GRCm39) N732S probably damaging Het
Gas2l2 T C 11: 83,313,924 (GRCm39) I463V probably benign Het
Gm5591 G A 7: 38,220,072 (GRCm39) S267L probably benign Het
Gzmk A G 13: 113,309,657 (GRCm39) V92A probably damaging Het
Hspg2 C T 4: 137,273,884 (GRCm39) R2680W probably damaging Het
Insyn2a A G 7: 134,520,270 (GRCm39) Y87H probably damaging Het
Kcnh3 G A 15: 99,131,982 (GRCm39) V646M probably damaging Het
Kcnk7 A C 19: 5,756,463 (GRCm39) I230L probably benign Het
Kif3b C T 2: 153,158,594 (GRCm39) R132* probably null Het
Klra5 T C 6: 129,885,776 (GRCm39) S128G probably benign Het
Krba1 C T 6: 48,383,282 (GRCm39) R4* probably null Het
Krt1c T A 15: 101,726,026 (GRCm39) I171F probably damaging Het
Lss A G 10: 76,372,089 (GRCm39) D148G probably benign Het
Mavs G T 2: 131,082,370 (GRCm39) A85S probably damaging Het
Mipep T C 14: 61,140,865 (GRCm39) C566R probably damaging Het
Myocd T A 11: 65,069,254 (GRCm39) probably benign Het
Ndufa9 C T 6: 126,804,498 (GRCm39) probably null Het
Nolc1 G A 19: 46,071,959 (GRCm39) G583D probably damaging Het
Nucb2 T C 7: 116,127,059 (GRCm39) probably null Het
Or1i2 T C 10: 78,448,409 (GRCm39) D22G probably benign Het
Or52e19 C T 7: 102,959,165 (GRCm39) T79I probably benign Het
Or5p63 A T 7: 107,811,301 (GRCm39) I145N possibly damaging Het
Pank4 C A 4: 155,061,076 (GRCm39) D508E probably benign Het
Phb1 T A 11: 95,562,416 (GRCm39) probably benign Het
Pign T A 1: 105,449,715 (GRCm39) probably benign Het
Plec T C 15: 76,076,382 (GRCm39) K349E probably benign Het
Ppp1r3c A T 19: 36,711,743 (GRCm39) V9E possibly damaging Het
Rap1gap T A 4: 137,443,422 (GRCm39) V130D probably damaging Het
Senp3 T A 11: 69,567,944 (GRCm39) Y432F probably benign Het
Serpina3f T C 12: 104,183,549 (GRCm39) I137T possibly damaging Het
Slc46a3 T A 5: 147,823,540 (GRCm39) K101* probably null Het
Snph G A 2: 151,436,434 (GRCm39) Q96* probably null Het
Sptb A T 12: 76,630,581 (GRCm39) C2244* probably null Het
Srbd1 A T 17: 86,416,693 (GRCm39) F488L probably benign Het
Ssc5d A T 7: 4,932,524 (GRCm39) H396L probably damaging Het
Sulf1 A C 1: 12,856,876 (GRCm39) R42S probably damaging Het
Taf1a T A 1: 183,181,752 (GRCm39) probably benign Het
Thoc5 T A 11: 4,876,218 (GRCm39) M609K probably damaging Het
Tiam2 A T 17: 3,568,617 (GRCm39) I1588F probably damaging Het
Tmcc1 C T 6: 116,020,247 (GRCm39) V402I probably damaging Het
Tmprss15 T C 16: 78,818,358 (GRCm39) D524G probably damaging Het
Trbv31 T C 6: 41,534,901 (GRCm39) I21V probably benign Het
Vmn1r74 A T 7: 11,581,398 (GRCm39) T233S possibly damaging Het
Vmn1r74 G C 7: 11,581,403 (GRCm39) Q234H probably damaging Het
Vsx1 A T 2: 150,530,529 (GRCm39) S118T probably benign Het
Wnt9b G A 11: 103,621,949 (GRCm39) T236I probably benign Het
Zbtb21 T C 16: 97,751,092 (GRCm39) T1092A possibly damaging Het
Zfp558 T A 9: 18,367,577 (GRCm39) N404Y possibly damaging Het
Zfp735 A T 11: 73,602,031 (GRCm39) D325V probably damaging Het
Zhx3 A T 2: 160,623,879 (GRCm39) M96K 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
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
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'- CAGTGCTACAGTATAACAGTGCC -3'
(R):5'- GAGTTGTGACTCCCAGACTGAAG -3'

Sequencing Primer
(F):5'- GCTACAGTATAACAGTGCCTCTCTAG -3'
(R):5'- GTGACTCCCAGACTGAAGAATTTAG -3'
Posted On 2015-09-25