Mutagenetix > Incidental Mutation

Incidental Mutation 'R1521:Zc3hc1'

166978

Institutional Source

Beutler Lab

Gene Symbol

Zc3hc1

Ensembl Gene

ENSMUSG00000039130

Gene Name

zinc finger, C3HC type 1

Synonyms

HSPC216, 1110054L24Rik, Nipa

MMRRC Submission

040870-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.546) question?

Stock #

R1521 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30366383-30391019 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30376024 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 179 (I179F)

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: I179F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000079627
Gene: ENSMUSG00000039130
AA Change: I179F

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

noncoding transcript
Transcript: ENSMUST00000083728

Predicted Effect

probably benign
Transcript: ENSMUST00000102992
AA Change: I179F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000100057
Gene: ENSMUSG00000039130
AA Change: I179F

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
AA Change: I179F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000110838
Gene: ENSMUSG00000039130
AA Change: I179F

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: ENSMUST00000152391
AA Change: I179F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000135447
Gene: ENSMUSG00000039130
AA Change: I179F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000147990

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.6%

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: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adat1	A	G	8: 112,713,867 (GRCm39)	L104P	possibly damaging	Het
Adgrf5	T	C	17: 43,741,443 (GRCm39)	V360A	probably benign	Het
Ahnak	G	A	19: 8,982,092 (GRCm39)	M1125I	probably benign	Het
Akap12	T	C	10: 4,304,804 (GRCm39)	V538A	probably benign	Het
Arhgef10l	T	C	4: 140,242,749 (GRCm39)	D1088G	possibly damaging	Het
Atp7b	A	T	8: 22,517,689 (GRCm39)	L268Q	probably damaging	Het
Atxn2	A	C	5: 121,917,654 (GRCm39)	N516T	probably damaging	Het
Cacna1h	T	C	17: 25,616,328 (GRCm39)	M184V	possibly damaging	Het
Cacnb2	G	T	2: 14,619,163 (GRCm39)	R66L	probably benign	Het
Casp8ap2	A	G	4: 32,631,867 (GRCm39)	E96G	probably damaging	Het
Ccdc78	G	T	17: 26,007,755 (GRCm39)	R264L	probably damaging	Het
Cdh4	G	A	2: 179,439,351 (GRCm39)	R166H	probably damaging	Het
Cog7	C	T	7: 121,529,797 (GRCm39)	D615N	possibly damaging	Het
Crtc2	T	C	3: 90,164,690 (GRCm39)	V115A	probably benign	Het
Crybg1	A	G	10: 43,874,412 (GRCm39)	S899P	probably damaging	Het
Ctdnep1	T	A	11: 69,879,461 (GRCm39)	V128E	probably damaging	Het
Ctnna3	A	G	10: 64,795,621 (GRCm39)	K780E	probably benign	Het
Cul7	T	A	17: 46,974,116 (GRCm39)	L1467H	probably damaging	Het
Dazap2	T	A	15: 100,515,946 (GRCm39)	Y91*	probably null	Het
Dcdc5	T	C	2: 106,182,014 (GRCm39)		noncoding transcript	Het
Dppa1	T	A	11: 46,501,300 (GRCm39)	R74S	possibly damaging	Het
Elovl1	A	T	4: 118,289,197 (GRCm39)	T241S	probably benign	Het
Eya1	G	T	1: 14,344,774 (GRCm39)	Q86K	probably damaging	Het
Fam110d	T	C	4: 133,978,661 (GRCm39)	*272W	probably null	Het
Fancm	A	T	12: 65,168,478 (GRCm39)	M1614L	probably benign	Het
Fcgbp	C	T	7: 27,774,585 (GRCm39)	T53I	probably benign	Het
Fpr3	T	A	17: 18,191,277 (GRCm39)	W183R	probably damaging	Het
Galnt13	G	A	2: 54,744,657 (GRCm39)	V119I	probably benign	Het
Garin4	T	A	1: 190,896,219 (GRCm39)	R141S	probably benign	Het
Gcfc2	T	C	6: 81,900,793 (GRCm39)	S36P	probably benign	Het
Gdap2	T	A	3: 100,101,931 (GRCm39)	D412E	possibly damaging	Het
Gm12258	T	C	11: 58,750,381 (GRCm39)	C41R	probably damaging	Het
Hipk1	T	G	3: 103,685,098 (GRCm39)	E172D	probably benign	Het
Hmgcs1	T	G	13: 120,165,127 (GRCm39)	L326R	probably benign	Het
Hs6st1	C	A	1: 36,107,967 (GRCm39)	R77S	probably damaging	Het
Ifit3	A	T	19: 34,564,573 (GRCm39)	N40Y	probably damaging	Het
Il1a	T	A	2: 129,146,661 (GRCm39)	Q144L	possibly damaging	Het
Itga7	A	G	10: 128,793,680 (GRCm39)	E1128G	possibly damaging	Het
Itih2	T	C	2: 10,111,558 (GRCm39)	D460G	probably damaging	Het
Ivns1abp	G	A	1: 151,227,309 (GRCm39)	C39Y	probably damaging	Het
Kif22	G	T	7: 126,627,011 (GRCm39)	A646E	probably damaging	Het
Klhl29	T	C	12: 5,141,307 (GRCm39)	Y559C	probably damaging	Het
Klhl7	T	A	5: 24,354,108 (GRCm39)		probably null	Het
Klhl9	A	G	4: 88,640,230 (GRCm39)	S4P	probably benign	Het
Klk10	A	G	7: 43,432,304 (GRCm39)	Q79R	probably benign	Het
Klk6	T	C	7: 43,478,699 (GRCm39)		probably null	Het
Kpna2rt	T	A	17: 90,217,734 (GRCm39)	N4I	possibly damaging	Het
Lamc2	C	T	1: 153,042,009 (GRCm39)	E42K	probably benign	Het
Lingo3	T	C	10: 80,671,555 (GRCm39)	D125G	probably benign	Het
Map1b	T	C	13: 99,569,247 (GRCm39)	N1158S	unknown	Het
Masp1	T	A	16: 23,313,387 (GRCm39)	N183Y	probably damaging	Het
Mdga2	A	G	12: 66,615,700 (GRCm39)	Y636H	probably benign	Het
Mical2	T	A	7: 111,980,817 (GRCm39)	S264T	probably damaging	Het
Mif	A	G	10: 75,695,375 (GRCm39)	V95A	possibly damaging	Het
Mmp17	G	A	5: 129,672,152 (GRCm39)		probably null	Het
Mmp23	T	C	4: 155,735,174 (GRCm39)	R390G	possibly damaging	Het
Ncoa6	A	C	2: 155,257,142 (GRCm39)	S800R	possibly damaging	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Nr2e3	A	T	9: 59,856,488 (GRCm39)	S67R	probably damaging	Het
Odf2l	T	C	3: 144,854,797 (GRCm39)	S545P	possibly damaging	Het
Or10d3	A	T	9: 39,462,080 (GRCm39)	V29E	possibly damaging	Het
Or4a47	G	A	2: 89,665,516 (GRCm39)	R258*	probably null	Het
Or52s1b	T	A	7: 102,822,658 (GRCm39)	Y62F	probably benign	Het
Or5k1b	C	T	16: 58,581,216 (GRCm39)	E108K	probably damaging	Het
Or7e176	A	C	9: 20,171,728 (GRCm39)	Q197H	possibly damaging	Het
Or7g27	C	T	9: 19,249,948 (GRCm39)	S64F	probably benign	Het
Or8b51	T	G	9: 38,569,014 (GRCm39)	I225L	probably damaging	Het
Otog	A	T	7: 45,908,688 (GRCm39)	H562L	possibly damaging	Het
Pcdh15	T	C	10: 74,430,023 (GRCm39)	V1250A	probably damaging	Het
Pde1c	A	G	6: 56,150,592 (GRCm39)	V309A	possibly damaging	Het
Pfkfb4	A	C	9: 108,836,373 (GRCm39)	T134P	probably damaging	Het
Phc3	G	T	3: 30,990,724 (GRCm39)	Q498K	possibly damaging	Het
Phlpp1	T	C	1: 106,320,049 (GRCm39)	V1348A	probably damaging	Het
Pik3ap1	T	C	19: 41,309,997 (GRCm39)	D441G	probably damaging	Het
Pkd1l2	T	C	8: 117,792,239 (GRCm39)		probably null	Het
Pla2g4a	T	C	1: 149,733,437 (GRCm39)		probably null	Het
Pola2	A	T	19: 5,998,434 (GRCm39)	I376N	probably damaging	Het
Pold2	T	A	11: 5,826,833 (GRCm39)	N34Y	probably damaging	Het
Ppp2r5c	T	C	12: 110,521,320 (GRCm39)	L281P	probably damaging	Het
Prss46	A	G	9: 110,678,703 (GRCm39)	I29V	probably benign	Het
Ranbp6	A	T	19: 29,788,846 (GRCm39)	V502E	probably benign	Het
Rdh14	T	C	12: 10,444,613 (GRCm39)	F155L	probably damaging	Het
Rnaseh2a	A	T	8: 85,692,487 (GRCm39)		probably null	Het
Rpp30	A	G	19: 36,071,785 (GRCm39)	T118A	possibly damaging	Het
Rragd	T	C	4: 32,996,005 (GRCm39)	F117L	probably damaging	Het
Rxylt1	A	G	10: 121,926,384 (GRCm39)	W243R	probably damaging	Het
S100a2	T	A	3: 90,498,599 (GRCm39)		probably null	Het
Septin12	T	C	16: 4,814,340 (GRCm39)	K43R	probably damaging	Het
Sh3tc2	A	G	18: 62,141,559 (GRCm39)	E1080G	probably damaging	Het
Slc26a9	A	G	1: 131,678,415 (GRCm39)	K27R	probably damaging	Het
Spata17	T	A	1: 186,926,191 (GRCm39)	K46N	probably damaging	Het
St14	A	C	9: 31,019,511 (GRCm39)	D103E	probably benign	Het
St6galnac2	T	A	11: 116,575,173 (GRCm39)	Q222L	possibly damaging	Het
Tdrd9	T	C	12: 112,002,844 (GRCm39)	V831A	probably damaging	Het
Tert	A	G	13: 73,790,175 (GRCm39)	E843G	probably damaging	Het
Tex21	A	G	12: 76,251,044 (GRCm39)	V464A	probably benign	Het
Tmem232	T	A	17: 65,791,496 (GRCm39)	H124L	probably damaging	Het
Tnfrsf19	T	G	14: 61,242,555 (GRCm39)	S110R	probably damaging	Het
Tnnt3	A	T	7: 142,069,562 (GRCm39)	K272*	probably null	Het
Tnxb	T	C	17: 34,930,477 (GRCm39)	L2054P	probably damaging	Het
Trcg1	A	C	9: 57,149,748 (GRCm39)	D440A	probably benign	Het
Trpm3	A	G	19: 22,878,585 (GRCm39)	E504G	probably damaging	Het
Trpm5	C	T	7: 142,636,626 (GRCm39)	R437H	probably benign	Het
Ttn	T	C	2: 76,571,511 (GRCm39)	R18134G	probably damaging	Het
Uchl5	A	C	1: 143,674,160 (GRCm39)	M64L	possibly damaging	Het
Urb1	G	A	16: 90,550,751 (GRCm39)	R2034W	probably damaging	Het
Usp44	T	A	10: 93,683,048 (GRCm39)	C452*	probably null	Het
Uvssa	G	A	5: 33,571,278 (GRCm39)	A641T	probably damaging	Het
Vmn1r204	T	A	13: 22,741,248 (GRCm39)	I293N	probably benign	Het
Vmn2r84	A	T	10: 130,225,137 (GRCm39)	C458S	probably benign	Het
Vmn2r85	T	G	10: 130,261,788 (GRCm39)	H183P	probably damaging	Het
Vps13d	G	T	4: 144,832,431 (GRCm39)	T2825K	probably benign	Het
Zfp112	A	G	7: 23,825,210 (GRCm39)	N393D	probably damaging	Het
Zfp558	A	G	9: 18,367,859 (GRCm39)	S310P	possibly damaging	Het
Zfp560	A	C	9: 20,260,071 (GRCm39)		probably null	Het
Zfp668	C	T	7: 127,466,252 (GRCm39)	E311K	probably benign	Het
Zfp763	T	A	17: 33,252,276 (GRCm39)	M1L	probably benign	Het
Zfp947	A	T	17: 22,364,813 (GRCm39)	M287K	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
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
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

Predicted Primers

PCR Primer
(F):5'- CCCTCCACTACTGCCATTTTGGAAG -3'
(R):5'- TTGCCTATGAGGGGAGAGCTACAC -3'

Sequencing Primer
(F):5'- CACTACTGCCATTTTGGAAGAAACTC -3'
(R):5'- cagaaggcatcattgccaag -3'

Posted On

2014-04-13