Incidental Mutation 'IGL02567:Zc3hc1'
ID 298884
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zc3hc1
Ensembl Gene ENSMUSG00000039130
Gene Name zinc finger, C3HC type 1
Synonyms 1110054L24Rik, Nipa, HSPC216
Accession Numbers

Genbank: NM_172735; MGI: 1916023

Is this an essential gene? Possibly essential (E-score: 0.504) question?
Stock # IGL02567
Quality Score
Status
Chromosome 6
Chromosomal Location 30366380-30391028 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 30374849 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 231 (D231G)
Ref Sequence ENSEMBL: ENSMUSP00000135447 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080812] [ENSMUST00000102992] [ENSMUST00000115184] [ENSMUST00000136255] [ENSMUST00000152391]
AlphaFold Q80YV2
Predicted Effect probably benign
Transcript: ENSMUST00000080812
AA Change: D231G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000079627
Gene: ENSMUSG00000039130
AA Change: D231G

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: D231G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000100057
Gene: ENSMUSG00000039130
AA Change: D231G

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: D231G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110838
Gene: ENSMUSG00000039130
AA Change: D231G

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: ENSMUST00000147990
Predicted Effect probably benign
Transcript: ENSMUST00000152391
AA Change: D231G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000135447
Gene: ENSMUSG00000039130
AA Change: D231G

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
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff4 C A 11: 53,372,751 S199R possibly damaging Het
Ano1 A G 7: 144,611,625 L621P probably damaging Het
Calcr C T 6: 3,691,564 V404M probably damaging Het
Carmil3 A G 14: 55,498,882 S635G possibly damaging Het
Ccl12 C A 11: 82,102,621 S28R possibly damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cdhr3 T C 12: 33,038,901 N761D probably benign Het
Col14a1 T C 15: 55,344,961 probably null Het
Col28a1 T C 6: 8,014,819 K862R possibly damaging Het
Cyp2c66 C T 19: 39,186,640 probably benign Het
D5Ertd615e T C 5: 45,163,416 noncoding transcript Het
Deup1 T C 9: 15,575,283 E367G probably damaging Het
Dpp8 T G 9: 65,078,776 Y849* probably null Het
Efhc1 T A 1: 20,972,964 V369E probably damaging Het
Epg5 A G 18: 78,033,073 Y2562C probably damaging Het
Fam189a1 T A 7: 64,786,731 M101L possibly damaging Het
Fbln5 A G 12: 101,761,800 probably null Het
Frem1 A T 4: 83,000,055 M551K probably damaging Het
Gba2 T C 4: 43,567,281 S889G probably benign Het
Golph3 C T 15: 12,349,421 R176* probably null Het
Got2 A T 8: 95,872,201 F191Y probably benign Het
Gtf2ird2 G T 5: 134,213,048 probably benign Het
Hist4h4 G A 6: 136,804,274 R36W probably damaging Het
Hivep3 A G 4: 120,133,956 T2218A probably damaging Het
Htr1f C T 16: 64,926,248 G227D probably benign Het
Ifi202b C T 1: 173,963,804 S436N possibly damaging Het
Nf1 T A 11: 79,547,143 V2109D probably damaging Het
Opa1 C A 16: 29,588,286 D29E probably benign Het
Papln C T 12: 83,778,837 P631S probably benign Het
Pde4c T A 8: 70,747,921 M352K probably benign Het
Pigu T C 2: 155,331,192 T129A possibly damaging Het
Pla2g4c T A 7: 13,346,040 H424Q probably damaging Het
Ptpn13 T G 5: 103,562,291 L1564R probably damaging Het
Rbm5 T C 9: 107,744,274 D642G probably damaging Het
Rnf111 T C 9: 70,459,005 T384A probably damaging Het
Scn11a T C 9: 119,804,489 T393A probably damaging Het
Sned1 A T 1: 93,274,347 K619M probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Syt9 A G 7: 107,436,661 Y295C probably damaging Het
Taar7f T A 10: 24,050,425 Y306N probably damaging Het
Tmem107 T G 11: 69,071,019 L25V possibly damaging Het
Wdr24 T G 17: 25,824,348 I48S probably damaging Het
Zfp142 T A 1: 74,578,147 S342C possibly damaging Het
Zfp142 T G 1: 74,578,149 K341T possibly damaging Het
Zfp142 T C 1: 74,578,150 K341E possibly damaging Het
Zfp804b T A 5: 6,769,989 I989L probably benign Het
Zfyve9 A C 4: 108,674,523 V1095G probably damaging Het
Other mutations in Zc3hc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01571:Zc3hc1 APN 6 30390863 missense probably benign 0.43
IGL01843:Zc3hc1 APN 6 30372730 splice site probably benign
IGL02358:Zc3hc1 APN 6 30376058 missense probably benign 0.04
IGL02379:Zc3hc1 APN 6 30390975 missense probably benign 0.38
F6893:Zc3hc1 UTSW 6 30387526 missense probably benign 0.07
R0376:Zc3hc1 UTSW 6 30372790 missense probably damaging 1.00
R0532:Zc3hc1 UTSW 6 30374930 splice site probably benign
R1521:Zc3hc1 UTSW 6 30376025 missense probably benign 0.00
R1690:Zc3hc1 UTSW 6 30390941 missense probably damaging 0.96
R1861:Zc3hc1 UTSW 6 30374838 missense probably benign
R3085:Zc3hc1 UTSW 6 30374764 critical splice donor site probably null
R4619:Zc3hc1 UTSW 6 30387524 missense probably benign 0.27
R4721:Zc3hc1 UTSW 6 30374900 missense probably benign 0.03
R4847:Zc3hc1 UTSW 6 30375982 missense probably benign 0.18
R5000:Zc3hc1 UTSW 6 30375988 missense possibly damaging 0.67
R5870:Zc3hc1 UTSW 6 30382683 nonsense probably null
R7195:Zc3hc1 UTSW 6 30382548 missense probably benign 0.43
R7922:Zc3hc1 UTSW 6 30390875 missense possibly damaging 0.49
R8164:Zc3hc1 UTSW 6 30390896 missense probably damaging 1.00
R8415:Zc3hc1 UTSW 6 30375952 missense probably damaging 0.99
R8926:Zc3hc1 UTSW 6 30374888 missense possibly damaging 0.84
Posted On 2015-04-16