Incidental Mutation 'IGL02358:Zc3hc1'
ID 290389
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zc3hc1
Ensembl Gene ENSMUSG00000039130
Gene Name zinc finger, C3HC type 1
Synonyms HSPC216, 1110054L24Rik, Nipa
Accession Numbers
Essential gene? Possibly essential (E-score: 0.521) question?
Stock # IGL02358
Quality Score
Status
Chromosome 6
Chromosomal Location 30366383-30391019 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 30376057 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Tryptophan at position 168 (G168W)
Ref Sequence ENSEMBL: ENSMUSP00000110838 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080812] [ENSMUST00000102992] [ENSMUST00000115184] [ENSMUST00000136255] [ENSMUST00000152391]
AlphaFold Q80YV2
Predicted Effect probably benign
Transcript: ENSMUST00000080812
AA Change: G168W

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000079627
Gene: ENSMUSG00000039130
AA Change: G168W

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 benign
Transcript: ENSMUST00000102992
AA Change: G168W

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000100057
Gene: ENSMUSG00000039130
AA Change: G168W

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: G168W

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000110838
Gene: ENSMUSG00000039130
AA Change: G168W

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 probably benign
Transcript: ENSMUST00000136255
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138983
Predicted Effect probably benign
Transcript: ENSMUST00000152391
AA Change: G168W

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000135447
Gene: ENSMUSG00000039130
AA Change: G168W

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 probably benign
Transcript: ENSMUST00000147990
Coding Region Coverage
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp A G 16: 56,474,418 (GRCm39) T448A possibly damaging Het
Adamtsl1 T A 4: 86,075,110 (GRCm39) probably null Het
Adgra3 A G 5: 50,215,900 (GRCm39) V73A probably benign Het
Adgre4 G A 17: 56,150,209 (GRCm39) R600Q probably benign Het
Aggf1 T C 13: 95,489,358 (GRCm39) probably benign Het
Aktip C T 8: 91,853,520 (GRCm39) V96I possibly damaging Het
Atm A G 9: 53,433,476 (GRCm39) I258T probably benign Het
Baz1b C T 5: 135,273,160 (GRCm39) T1428I probably damaging Het
C3ar1 A T 6: 122,826,934 (GRCm39) Y428N probably damaging Het
Cadps A G 14: 12,597,380 (GRCm38) S437P probably damaging Het
Car4 C T 11: 84,856,593 (GRCm39) P294S probably damaging Het
Cenpq A G 17: 41,235,223 (GRCm39) L213P probably damaging Het
Cept1 A G 3: 106,446,504 (GRCm39) probably null Het
Cln6 A G 9: 62,754,407 (GRCm39) I150V probably benign Het
Cyb5r3 T C 15: 83,045,136 (GRCm39) T94A probably benign Het
Cyp2c67 A G 19: 39,605,861 (GRCm39) M345T probably damaging Het
Dapk2 T A 9: 66,153,805 (GRCm39) I187N probably damaging Het
Dkk2 A G 3: 131,883,673 (GRCm39) D191G probably benign Het
Dnah8 T A 17: 30,986,785 (GRCm39) F3145I probably damaging Het
Dock1 A C 7: 134,710,548 (GRCm39) D1190A possibly damaging Het
Ehhadh T A 16: 21,581,620 (GRCm39) L457F probably damaging Het
Ercc6l2 T C 13: 64,001,497 (GRCm39) L552P probably damaging Het
Ghrhr T G 6: 55,361,138 (GRCm39) I284S probably damaging Het
Gm10288 A T 3: 146,544,954 (GRCm39) noncoding transcript Het
Gp6 T G 7: 4,397,507 (GRCm39) I19L probably benign Het
Gria4 G A 9: 4,456,206 (GRCm39) S698L possibly damaging Het
Ifng A T 10: 118,278,410 (GRCm39) I53F possibly damaging Het
Kazn A C 4: 141,874,327 (GRCm39) probably null Het
Khk A T 5: 31,085,848 (GRCm39) I136F probably damaging Het
Krtap9-3 T A 11: 99,488,885 (GRCm39) probably benign Het
Lnx1 T A 5: 74,788,027 (GRCm39) N98Y probably damaging Het
Lsp1 T C 7: 142,042,679 (GRCm39) probably null Het
Lta4h A T 10: 93,314,329 (GRCm39) N467I probably benign Het
Mcmbp C A 7: 128,311,505 (GRCm39) probably null Het
Me2 A T 18: 73,931,038 (GRCm39) I85K probably benign Het
Muc4 C T 16: 32,569,804 (GRCm39) T288I possibly damaging Het
Nadsyn1 A T 7: 143,353,649 (GRCm39) Y525N probably damaging Het
Nt5e G A 9: 88,209,946 (GRCm39) V70M probably damaging Het
Or52e4 G A 7: 104,706,182 (GRCm39) G243D probably damaging Het
Or8b36 A T 9: 37,937,332 (GRCm39) I77L possibly damaging Het
Or9k7 T G 10: 130,046,603 (GRCm39) Y132S probably damaging Het
Pkd1l3 A G 8: 110,373,129 (GRCm39) probably benign Het
Ppm1d A T 11: 85,236,541 (GRCm39) E440V probably damaging Het
Pramel32 A T 4: 88,546,127 (GRCm39) I405N probably damaging Het
Ripor2 A T 13: 24,915,572 (GRCm39) E1047D probably damaging Het
Rwdd2b G A 16: 87,234,336 (GRCm39) A18V probably benign Het
Serpina5 G T 12: 104,068,384 (GRCm39) K148N probably damaging Het
Setx A G 2: 29,036,976 (GRCm39) K1154E probably benign Het
Spata31 T A 13: 65,069,032 (GRCm39) N393K probably benign Het
Spcs2 T C 7: 99,498,241 (GRCm39) K81R probably damaging Het
Stt3b T A 9: 115,079,975 (GRCm39) M646L possibly damaging Het
Suco T C 1: 161,646,195 (GRCm39) T1169A probably benign Het
Susd1 A T 4: 59,427,985 (GRCm39) Y66* probably null Het
Trim34a T A 7: 103,910,441 (GRCm39) C414* probably null Het
Trim58 G A 11: 58,542,176 (GRCm39) G379S probably damaging Het
Vmn2r50 T A 7: 9,787,002 (GRCm39) Q35L probably benign Het
Zfp418 T C 7: 7,177,690 (GRCm39) probably benign Het
Zfp57 G A 17: 37,320,919 (GRCm39) V258I probably benign Het
Zng1 A T 19: 24,909,026 (GRCm39) probably null 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
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
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
Posted On 2015-04-16