Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01843:Zc3hc1'

178113

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: 0.546) question?

Stock #

IGL01843

Quality Score

Status

Chromosome

Chromosomal Location

30366383-30391019 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 30372729 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000079627
Gene: ENSMUSG00000039130

Domain	Start	End	E-Value	Type
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

SMART Domains

Protein: ENSMUSP00000100057
Gene: ENSMUSG00000039130

Domain	Start	End	E-Value	Type
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

SMART Domains

Protein: ENSMUSP00000110838
Gene: ENSMUSG00000039130

Domain	Start	End	E-Value	Type
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

SMART Domains

Protein: ENSMUSP00000135447
Gene: ENSMUSG00000039130

Domain	Start	End	E-Value	Type
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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	C	T	6: 128,530,301 (GRCm39)		probably benign	Het
Ap1b1	T	C	11: 4,989,169 (GRCm39)	L782P	probably damaging	Het
Arid1a	T	C	4: 133,408,765 (GRCm39)	D1914G	unknown	Het
C8a	G	A	4: 104,719,808 (GRCm39)	Q57*	probably null	Het
Cachd1	T	C	4: 100,850,069 (GRCm39)	S1144P	probably damaging	Het
Cdh23	A	T	10: 60,255,598 (GRCm39)		probably null	Het
Cenpe	A	G	3: 134,924,268 (GRCm39)	Q198R	possibly damaging	Het
Cpne8	T	C	15: 90,453,700 (GRCm39)	I228V	probably benign	Het
Cr2	A	T	1: 194,833,222 (GRCm39)		probably benign	Het
Csmd3	T	C	15: 47,522,395 (GRCm39)		probably benign	Het
Cyp2c23	A	G	19: 43,994,046 (GRCm39)	V440A	probably benign	Het
Dag1	T	C	9: 108,085,281 (GRCm39)	D620G	possibly damaging	Het
Dmxl1	T	A	18: 50,011,449 (GRCm39)	L1202*	probably null	Het
Dnah3	T	G	7: 119,542,798 (GRCm39)	H3538P	probably benign	Het
Dock8	A	T	19: 25,067,292 (GRCm39)	Q312L	probably benign	Het
E2f7	T	G	10: 110,610,596 (GRCm39)	V407G	probably benign	Het
F13b	T	C	1: 139,444,165 (GRCm39)	S500P	probably damaging	Het
F5	A	G	1: 164,039,395 (GRCm39)	I2002V	probably benign	Het
Flywch1	T	A	17: 23,979,319 (GRCm39)	M439L	possibly damaging	Het
Gcn1	C	A	5: 115,757,759 (GRCm39)	A2488E	probably damaging	Het
Gria1	T	C	11: 57,208,600 (GRCm39)	S832P	probably damaging	Het
Hnrnpr	T	C	4: 136,066,724 (GRCm39)		probably benign	Het
Hps3	A	G	3: 20,083,165 (GRCm39)	I177T	probably benign	Het
Irgm2	G	A	11: 58,111,167 (GRCm39)	G298D	probably benign	Het
Kcnk7	G	A	19: 5,756,230 (GRCm39)	G152D	probably damaging	Het
Man2a2	T	C	7: 80,012,654 (GRCm39)	T620A	probably benign	Het
Mapk12	A	G	15: 89,021,669 (GRCm39)		probably benign	Het
Mapk6	T	C	9: 75,297,572 (GRCm39)	Y315C	probably damaging	Het
Mdga2	T	A	12: 66,769,905 (GRCm39)		probably null	Het
Met	T	A	6: 17,491,700 (GRCm39)	I154N	probably damaging	Het
Mtrex	T	C	13: 113,055,095 (GRCm39)		probably benign	Het
Nap1l1	A	G	10: 111,328,772 (GRCm39)	R234G	possibly damaging	Het
Olfm5	C	A	7: 103,809,951 (GRCm39)	V137F	possibly damaging	Het
Or4d11	G	T	19: 12,014,041 (GRCm39)	H22N	probably benign	Het
Pcdha11	C	T	18: 37,145,886 (GRCm39)	T659I	probably benign	Het
Pfkm	T	C	15: 98,027,187 (GRCm39)	V620A	possibly damaging	Het
Rbak	A	G	5: 143,162,355 (GRCm39)		probably benign	Het
Rbl2	A	G	8: 91,816,844 (GRCm39)	I401M	probably benign	Het
Rragc	T	C	4: 123,814,852 (GRCm39)	S183P	probably damaging	Het
Septin3	A	G	15: 82,163,814 (GRCm39)		probably benign	Het
Slc22a6	A	T	19: 8,603,578 (GRCm39)		probably benign	Het
Spag4	A	T	2: 155,910,417 (GRCm39)	T348S	probably benign	Het
Sptbn1	T	C	11: 30,054,623 (GRCm39)	R2157G	probably benign	Het
Tmem168	G	A	6: 13,582,940 (GRCm39)	T263M	probably damaging	Het
Tnik	T	A	3: 28,625,007 (GRCm39)		probably null	Het
Tnpo2	T	A	8: 85,777,137 (GRCm39)	V549E	probably damaging	Het
Ttll7	A	C	3: 146,645,776 (GRCm39)	K545Q	possibly damaging	Het
Tubgcp5	T	G	7: 55,449,221 (GRCm39)	D139E	probably benign	Het
Vmn1r233	T	A	17: 21,214,861 (GRCm39)	N30Y	probably damaging	Het
Vmn2r25	T	G	6: 123,829,962 (GRCm39)	D63A	possibly damaging	Het
Vmn2r79	T	A	7: 86,686,485 (GRCm39)	L622Q	probably damaging	Het
Vmn2r84	T	C	10: 130,222,148 (GRCm39)	M691V	probably benign	Het

Other mutations in Zc3hc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01571:Zc3hc1	APN	6	30,390,862 (GRCm39)	missense	probably benign	0.43
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
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

2014-05-07