Incidental Mutation 'R5000:Zc3hc1'
ID 389809
Institutional Source Beutler Lab
Gene Symbol Zc3hc1
Ensembl Gene ENSMUSG00000039130
Gene Name zinc finger, C3HC type 1
Synonyms HSPC216, 1110054L24Rik, Nipa
MMRRC Submission 042594-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.521) question?
Stock # R5000 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 30366383-30391019 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 30375987 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 191 (H191L)
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: H191L

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000079627
Gene: ENSMUSG00000039130
AA Change: H191L

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: H191L

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000100057
Gene: ENSMUSG00000039130
AA Change: H191L

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: H191L

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000110838
Gene: ENSMUSG00000039130
AA Change: H191L

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 possibly damaging
Transcript: ENSMUST00000152391
AA Change: H191L

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000135447
Gene: ENSMUSG00000039130
AA Change: H191L

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
Meta Mutation Damage Score 0.0872 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
Validation Efficiency 98% (97/99)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik T A 7: 27,255,946 (GRCm39) F11Y probably benign Het
Abca5 A G 11: 110,201,050 (GRCm39) L450P probably damaging Het
Abi1 T A 2: 22,840,211 (GRCm39) R357W probably damaging Het
Acot7 G A 4: 152,270,820 (GRCm39) G55R probably benign Het
Aicda G A 6: 122,538,826 (GRCm39) V14I probably damaging Het
Anxa4 G T 6: 86,742,766 (GRCm39) probably benign Het
Apobr T A 7: 126,185,729 (GRCm39) D413E possibly damaging Het
Ash1l T C 3: 88,965,941 (GRCm39) Y2448H probably damaging Het
Atf7ip A G 6: 136,559,426 (GRCm39) E749G probably damaging Het
Atp8b3 A T 10: 80,357,676 (GRCm39) N1114K possibly damaging Het
Bdnf C A 2: 109,553,993 (GRCm39) N122K probably benign Het
Boc A T 16: 44,310,517 (GRCm39) I801N probably damaging Het
Brap A T 5: 121,800,089 (GRCm39) K37* probably null Het
Ccar1 C T 10: 62,586,784 (GRCm39) E885K unknown Het
Ccdc103 A G 11: 102,774,932 (GRCm39) N177S probably benign Het
Ccdc116 G A 16: 16,959,657 (GRCm39) P344L possibly damaging Het
Cdca5 T C 19: 6,135,463 (GRCm39) S28P possibly damaging Het
Ceacam20 T C 7: 19,699,453 (GRCm39) I14T probably damaging Het
Chrnb1 A T 11: 69,677,858 (GRCm39) V298E probably damaging Het
Cnksr3 G A 10: 7,076,746 (GRCm39) Q149* probably null Het
Csnk1a1 T C 18: 61,711,840 (GRCm39) F97L probably damaging Het
Dag1 A T 9: 108,085,216 (GRCm39) S642T probably benign Het
Dedd2 A G 7: 24,903,068 (GRCm39) V297A possibly damaging Het
Dhcr7 C T 7: 143,395,060 (GRCm39) T189M possibly damaging Het
Dlgap1 T C 17: 71,073,053 (GRCm39) S691P probably damaging Het
Dmgdh A C 13: 93,825,046 (GRCm39) H123P probably damaging Het
Dnah6 C T 6: 73,121,798 (GRCm39) V1395I probably benign Het
Dnah7a T C 1: 53,606,201 (GRCm39) Y1273C probably damaging Het
Dnah7b T A 1: 46,138,663 (GRCm39) L235* probably null Het
Elac2 T C 11: 64,876,379 (GRCm39) F3L probably benign Het
Elovl7 A T 13: 108,410,915 (GRCm39) K163N probably benign Het
Epg5 T C 18: 77,997,376 (GRCm39) V413A probably benign Het
Espl1 T A 15: 102,206,986 (GRCm39) L150Q probably damaging Het
F2rl3 T A 8: 73,489,307 (GRCm39) L178Q probably damaging Het
Fam120a T C 13: 49,051,143 (GRCm39) E754G probably damaging Het
Fam53b T C 7: 132,317,730 (GRCm39) N304S probably benign Het
Fbxo41 T C 6: 85,460,901 (GRCm39) E269G probably damaging Het
Fcrla T C 1: 170,749,959 (GRCm39) T4A probably benign Het
Frmpd1 A T 4: 45,261,931 (GRCm39) probably null Het
Gm9376 A G 14: 118,504,702 (GRCm39) M45V probably benign Het
Gpr68 G A 12: 100,844,596 (GRCm39) A316V probably benign Het
Hmgcl G A 4: 135,689,511 (GRCm39) C323Y probably benign Het
Hnrnpu T C 1: 178,156,941 (GRCm39) probably benign Het
Ier2 T A 8: 85,389,353 (GRCm39) I10F probably damaging Het
Ip6k1 C T 9: 107,922,798 (GRCm39) Q234* probably null Het
Llgl2 T C 11: 115,735,728 (GRCm39) V108A probably benign Het
Lrfn3 T C 7: 30,059,805 (GRCm39) N140S possibly damaging Het
Lrig1 T A 6: 94,588,430 (GRCm39) H573L probably damaging Het
Lrrk2 T A 15: 91,634,081 (GRCm39) W1393R probably damaging Het
Mrc1 T A 2: 14,249,000 (GRCm39) Y179N probably damaging Het
Mtfr1 C T 3: 19,265,743 (GRCm39) L93F probably damaging Het
Muc19 T C 15: 91,757,429 (GRCm39) noncoding transcript Het
Ndst2 C T 14: 20,774,975 (GRCm39) probably null Het
Nmd3 A T 3: 69,624,735 (GRCm39) probably benign Het
Nsd3 A G 8: 26,172,593 (GRCm39) Y784C probably damaging Het
Or4a27 A T 2: 88,559,910 (GRCm39) I11N probably damaging Het
Or7a36 G A 10: 78,820,514 (GRCm39) V297I probably benign Het
Papln A G 12: 83,821,663 (GRCm39) Y297C probably damaging Het
Pdhx T C 2: 102,871,385 (GRCm39) probably null Het
Pdpk1 T C 17: 24,330,019 (GRCm39) T6A possibly damaging Het
Prcp T C 7: 92,568,368 (GRCm39) W267R probably damaging Het
Prg2 T C 2: 84,812,367 (GRCm39) S26P probably benign Het
Psg26 A T 7: 18,214,057 (GRCm39) Y202N possibly damaging Het
Psrc1 T C 3: 108,287,839 (GRCm39) probably benign Het
Rap1gds1 A T 3: 138,662,011 (GRCm39) M366K probably damaging Het
Robo4 G T 9: 37,319,664 (GRCm39) R527L probably benign Het
Sel1l3 G A 5: 53,357,776 (GRCm39) T72M probably damaging Het
Selenoo G A 15: 88,978,387 (GRCm39) R270H probably damaging Het
Sema3d A G 5: 12,498,005 (GRCm39) T4A probably benign Het
Shroom1 A T 11: 53,357,944 (GRCm39) probably benign Het
Slc25a19 T C 11: 115,507,497 (GRCm39) probably null Het
Snx29 A C 16: 11,221,371 (GRCm39) I266L probably damaging Het
Spo11 T C 2: 172,831,193 (GRCm39) S255P probably damaging Het
Spock3 T C 8: 63,698,158 (GRCm39) V167A possibly damaging Het
Tmc7 A G 7: 118,158,077 (GRCm39) probably null Het
Tmtc4 A G 14: 123,170,743 (GRCm39) V509A possibly damaging Het
Trim24 A G 6: 37,935,547 (GRCm39) D880G probably benign Het
Ube2j2 G A 4: 156,030,841 (GRCm39) M1I probably null Het
Ubr4 T A 4: 139,163,480 (GRCm39) C2627S probably damaging Het
Unc5d A T 8: 29,205,775 (GRCm39) M512K possibly damaging Het
Usp18 A G 6: 121,229,479 (GRCm39) R33G possibly damaging Het
Utp23 T A 15: 51,745,569 (GRCm39) V23D probably damaging Het
Wdr17 T A 8: 55,118,161 (GRCm39) M512L possibly damaging Het
Wdr64 T A 1: 175,553,941 (GRCm39) probably null Het
Zbtb6 T C 2: 37,319,251 (GRCm39) T226A probably benign Het
Zdhhc4 C A 5: 143,310,688 (GRCm39) C48F probably damaging Het
Zfp335 T A 2: 164,736,588 (GRCm39) T1016S probably benign Het
Zfp583 A G 7: 6,328,473 (GRCm39) Y39H 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
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'- GCCATTTTGGAAGAAACTCAAGTC -3'
(R):5'- GTGTTTAGAAGCTCACACCCC -3'

Sequencing Primer
(F):5'- GTCAAAAGAGAGAGCAGTTATTCTC -3'
(R):5'- GCATCATTGCCAAGAGCTTC -3'
Posted On 2016-06-06