Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02458:Zc3hav1'

294499

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zc3hav1

Ensembl Gene

ENSMUSG00000029826

Gene Name

zinc finger CCCH type, antiviral 1

Synonyms

9130009D18Rik, 2900058M19Rik, ZAP, 1200014N16Rik, 9830115L13Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

IGL02458

Quality Score

Status

Chromosome

Chromosomal Location

38305286-38354603 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38340329 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 112 (V112A)

Ref Sequence

ENSEMBL: ENSMUSP00000110548 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031850] [ENSMUST00000114898] [ENSMUST00000114900] [ENSMUST00000143702]

AlphaFold

Q3UPF5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031850
AA Change: V112A

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000031850
Gene: ENSMUSG00000029826
AA Change: V112A

Domain	Start	End	E-Value	Type
low complexity region	61	75	N/A	INTRINSIC
internal_repeat_1	80	127	9.6e-6	PROSPERO
internal_repeat_1	166	208	9.6e-6	PROSPERO
low complexity region	338	350	N/A	INTRINSIC
low complexity region	535	545	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000114898
AA Change: V112A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000110548
Gene: ENSMUSG00000029826
AA Change: V112A

Domain	Start	End	E-Value	Type
low complexity region	61	75	N/A	INTRINSIC
internal_repeat_1	80	127	8.18e-6	PROSPERO
internal_repeat_1	166	208	8.18e-6	PROSPERO
low complexity region	338	350	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000114900
AA Change: V112A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000110550
Gene: ENSMUSG00000029826
AA Change: V112A

Domain	Start	End	E-Value	Type
low complexity region	61	75	N/A	INTRINSIC
internal_repeat_1	80	127	1.94e-5	PROSPERO
internal_repeat_1	166	208	1.94e-5	PROSPERO
low complexity region	338	350	N/A	INTRINSIC
low complexity region	535	545	N/A	INTRINSIC
Pfam:WWE	695	772	2.8e-15	PFAM
Pfam:PARP	817	986	1.3e-21	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000143702
AA Change: V112A

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000144312
Gene: ENSMUSG00000029826
AA Change: V112A

Domain	Start	End	E-Value	Type
low complexity region	61	75	N/A	INTRINSIC
internal_repeat_1	80	127	1.8e-5	PROSPERO
internal_repeat_1	166	208	1.8e-5	PROSPERO
low complexity region	338	350	N/A	INTRINSIC
low complexity region	535	545	N/A	INTRINSIC
Pfam:WWE	695	772	1e-15	PFAM
Pfam:PARP	817	922	1.9e-12	PFAM

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 a CCCH-type zinc finger protein that is thought to prevent infection by retroviruses. Studies of the rat homolog indicate that the protein may primarily function to inhibit viral gene expression and induce an innate immunity to viral infection. Alternative splicing occurs at this locus and two variants, each encoding distinct isoforms, are described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced murine leukemia virus replication efficiency in mouse embryonic fibroblasts. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	A	T	8: 40,753,807	I37L	probably benign	Het
Alpk1	A	G	3: 127,681,319		probably null	Het
Ankrd33	T	C	15: 101,116,607	F8L	probably damaging	Het
Avil	A	G	10: 127,016,353	K669R	probably benign	Het
Bcor	G	T	X: 12,048,510	L1165I	probably damaging	Het
C7	A	G	15: 5,059,389		probably benign	Het
Cc2d2a	A	G	5: 43,718,554	I958V	probably benign	Het
Cenpe	A	T	3: 135,230,108	K435*	probably null	Het
Chrna7	G	A	7: 63,106,094	L235F	probably damaging	Het
Col6a3	C	A	1: 90,779,197	V2065L	unknown	Het
Copb1	A	T	7: 114,246,785	N183K	probably benign	Het
Cpn2	G	A	16: 30,260,835	A16V	probably benign	Het
Cul1	A	G	6: 47,525,608	K769E	possibly damaging	Het
Ddx58	A	G	4: 40,229,536	S83P	probably damaging	Het
Deup1	C	T	9: 15,592,360	V302M	probably benign	Het
Dnah17	T	C	11: 118,036,350	K3871E	probably damaging	Het
Dnah6	A	G	6: 73,027,448	V3844A	probably benign	Het
Dnah7a	A	T	1: 53,618,328	L763*	probably null	Het
Donson	A	T	16: 91,681,176	W461R	probably damaging	Het
Dpp10	T	C	1: 123,341,689	I664V	probably benign	Het
Dusp8	T	A	7: 142,082,747	T369S	probably benign	Het
Dync2h1	A	T	9: 7,117,422	L56Q	probably damaging	Het
Ecd	A	T	14: 20,324,477	S532T	probably benign	Het
Frg2f1	G	A	4: 119,530,957	T115I	probably damaging	Het
Gpatch2l	A	G	12: 86,288,961		probably benign	Het
Gtf3c2	T	A	5: 31,159,523		probably null	Het
Haghl	T	C	17: 25,783,496		probably benign	Het
Hoxc8	A	T	15: 102,992,749	N208I	probably damaging	Het
Igf2	T	C	7: 142,654,048	D115G	probably benign	Het
Jag2	T	A	12: 112,915,993	D385V	probably damaging	Het
Laptm4b	A	G	15: 34,258,742	H54R	probably benign	Het
Lrp2	A	G	2: 69,521,773	S640P	probably damaging	Het
Map3k8	A	C	18: 4,334,660	V328G	probably damaging	Het
Mfsd13a	A	G	19: 46,372,247	E388G	probably damaging	Het
Ms4a13	G	A	19: 11,171,928	T168I	probably benign	Het
Mtg1	C	A	7: 140,150,172	Q294K	probably benign	Het
Myh3	C	T	11: 67,096,940	A1413V	possibly damaging	Het
Neo1	A	T	9: 58,893,867		probably benign	Het
Ogfod3	T	C	11: 121,200,923	E119G	probably benign	Het
Olfr1250	A	G	2: 89,657,348	L31P	probably damaging	Het
Olfr1331	A	G	4: 118,869,300	N173S	possibly damaging	Het
Olfr331	A	T	11: 58,502,247	M109K	probably benign	Het
Olfr800	A	T	10: 129,660,606	I267F	probably benign	Het
Olfr988	G	A	2: 85,353,662	T88I	probably benign	Het
Parvb	G	T	15: 84,303,434	D248Y	probably damaging	Het
Pcdh11x	A	T	X: 120,400,618	H586L	possibly damaging	Het
Phactr2	T	C	10: 13,261,828	E120G	probably damaging	Het
Ppfibp2	A	T	7: 107,742,964	Q775L	probably damaging	Het
Rcbtb1	A	G	14: 59,229,994	Y427C	probably damaging	Het
Rftn2	A	T	1: 55,211,192	C131*	probably null	Het
Rps6ka2	A	G	17: 7,289,003	D474G	probably benign	Het
Rsbn1l	T	C	5: 20,951,736	E17G	probably damaging	Het
Ryr2	T	C	13: 11,705,699	M2688V	probably benign	Het
Slc22a18	C	A	7: 143,492,837		probably benign	Het
Smarcc1	A	G	9: 110,132,126		probably benign	Het
Soat2	T	C	15: 102,162,115	V451A	probably damaging	Het
Sptlc2	A	T	12: 87,309,893		probably benign	Het
Tada1	C	T	1: 166,392,634	L308F	probably damaging	Het
Tango2	A	T	16: 18,310,867		probably null	Het
Tbc1d15	A	T	10: 115,229,206	V158D	probably damaging	Het
Tcrg-V3	A	G	13: 19,243,253	Y102C	probably damaging	Het
Tmx2	A	T	2: 84,673,244		probably benign	Het
Tpte	T	A	8: 22,305,858	I79K	probably benign	Het
Trav6-1	A	G	14: 52,638,742	I40V	probably benign	Het
Ubash3a	T	C	17: 31,231,481	S377P	possibly damaging	Het
Vmn2r7	T	C	3: 64,693,025	D575G	probably damaging	Het
Vps41	A	G	13: 18,853,479	D704G	possibly damaging	Het
Vwa5a	T	C	9: 38,726,963	S261P	possibly damaging	Het

Other mutations in Zc3hav1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01934:Zc3hav1	APN	6	38319833	splice site	probably null
IGL02225:Zc3hav1	APN	6	38340341	missense	probably damaging	1.00
IGL02266:Zc3hav1	APN	6	38332168	missense	probably benign	0.01
IGL02626:Zc3hav1	APN	6	38332991	missense	probably damaging	0.96
IGL02725:Zc3hav1	APN	6	38332192	missense	probably damaging	0.98
IGL02958:Zc3hav1	APN	6	38332984	missense	probably damaging	1.00
IGL03104:Zc3hav1	APN	6	38340343	missense	probably damaging	1.00
IGL03137:Zc3hav1	APN	6	38332394	missense	probably benign
IGL03238:Zc3hav1	APN	6	38332750	missense	probably damaging	0.99
IGL03380:Zc3hav1	APN	6	38336558	missense	probably damaging	1.00
IGL03055:Zc3hav1	UTSW	6	38316316	splice site	probably null
P0038:Zc3hav1	UTSW	6	38332534	missense	probably damaging	0.98
R0006:Zc3hav1	UTSW	6	38319702	critical splice donor site	probably null
R0207:Zc3hav1	UTSW	6	38311174	missense	probably benign	0.00
R0255:Zc3hav1	UTSW	6	38336550	missense	probably damaging	1.00
R0452:Zc3hav1	UTSW	6	38307437	missense	probably benign	0.01
R0505:Zc3hav1	UTSW	6	38332664	missense	probably damaging	1.00
R0865:Zc3hav1	UTSW	6	38353902	splice site	probably benign
R1281:Zc3hav1	UTSW	6	38353937	missense	probably damaging	1.00
R1531:Zc3hav1	UTSW	6	38307235	missense	possibly damaging	0.91
R1873:Zc3hav1	UTSW	6	38332757	missense	possibly damaging	0.50
R1991:Zc3hav1	UTSW	6	38336517	missense	probably damaging	1.00
R2149:Zc3hav1	UTSW	6	38336537	missense	probably damaging	1.00
R2184:Zc3hav1	UTSW	6	38307408	missense	probably damaging	0.99
R2365:Zc3hav1	UTSW	6	38340233	missense	probably damaging	1.00
R2924:Zc3hav1	UTSW	6	38354110	missense	probably damaging	0.97
R3237:Zc3hav1	UTSW	6	38319715	missense	probably damaging	1.00
R3710:Zc3hav1	UTSW	6	38332162	missense	probably benign	0.35
R5683:Zc3hav1	UTSW	6	38307237	missense	probably damaging	1.00
R5684:Zc3hav1	UTSW	6	38311279	missense	probably benign	0.01
R5905:Zc3hav1	UTSW	6	38307340	missense	probably benign	0.03
R5959:Zc3hav1	UTSW	6	38307444	missense	probably benign	0.01
R6028:Zc3hav1	UTSW	6	38307340	missense	probably benign	0.03
R6261:Zc3hav1	UTSW	6	38333000	missense	probably benign	0.24
R6465:Zc3hav1	UTSW	6	38331849	missense	possibly damaging	0.85
R6682:Zc3hav1	UTSW	6	38325195	missense	probably benign	0.02
R6831:Zc3hav1	UTSW	6	38332168	missense	probably benign	0.01
R7082:Zc3hav1	UTSW	6	38332393	nonsense	probably null
R7196:Zc3hav1	UTSW	6	38329272	missense	probably benign
R7248:Zc3hav1	UTSW	6	38353976	missense	probably benign	0.04
R7319:Zc3hav1	UTSW	6	38332274	missense	probably benign
R7506:Zc3hav1	UTSW	6	38332940	nonsense	probably null
R7593:Zc3hav1	UTSW	6	38329186	missense	probably benign	0.01
R7788:Zc3hav1	UTSW	6	38332756	missense	probably benign	0.02
R7885:Zc3hav1	UTSW	6	38336663	missense	possibly damaging	0.82
R7892:Zc3hav1	UTSW	6	38329221	missense	probably benign	0.25
R8109:Zc3hav1	UTSW	6	38329179	missense	probably damaging	1.00
R8769:Zc3hav1	UTSW	6	38336481	missense	possibly damaging	0.81
R8880:Zc3hav1	UTSW	6	38311277	missense	probably benign
R9002:Zc3hav1	UTSW	6	38325241	missense	possibly damaging	0.94
R9527:Zc3hav1	UTSW	6	38353978	missense	probably damaging	1.00
R9558:Zc3hav1	UTSW	6	38354107	missense	possibly damaging	0.85

Posted On

2015-04-16