Mutagenetix > Incidental Mutation

Incidental Mutation 'R1531:Zc3hav1'

166193

Institutional Source

Beutler Lab

Gene Symbol

Zc3hav1

Ensembl Gene

ENSMUSG00000029826

Gene Name

zinc finger CCCH type, antiviral 1

Synonyms

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

MMRRC Submission

039570-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R1531 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

38305286-38354603 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38307235 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 982 (I982V)

Ref Sequence

ENSEMBL: ENSMUSP00000110550 (fasta)

Gene Model

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

AlphaFold

Q3UPF5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114900
AA Change: I982V

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110550
Gene: ENSMUSG00000029826
AA Change: I982V

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

probably benign
Transcript: ENSMUST00000143702

SMART Domains

Protein: ENSMUSP00000144312
Gene: ENSMUSG00000029826

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

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.3%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700021F05Rik	A	G	10: 43,525,320	V211A	probably benign	Het
Agtpbp1	T	A	13: 59,500,634		probably null	Het
Aldh3b2	T	G	19: 3,977,543	F28C	probably damaging	Het
Apaf1	T	C	10: 91,054,521	N540S	probably damaging	Het
Apob	T	C	12: 7,997,880	I953T	possibly damaging	Het
Arhgef1	A	G	7: 24,924,998	T816A	probably damaging	Het
Arid4a	T	A	12: 71,076,005	F1053L	probably benign	Het
Atxn1l	A	C	8: 109,732,059	F524V	probably damaging	Het
Cad	T	A	5: 31,076,219	M1874K	probably benign	Het
Ccdc40	G	A	11: 119,263,189	V1096I	probably benign	Het
Ccdc93	A	G	1: 121,480,822	D358G	probably benign	Het
Cd96	T	C	16: 46,117,806	T99A	probably benign	Het
Cdc42ep3	A	T	17: 79,335,044	M149K	probably benign	Het
Cog4	A	G	8: 110,879,721	E613G	probably benign	Het
Crebbp	A	T	16: 4,084,517	I2286N	probably benign	Het
Csf1	T	C	3: 107,748,338	E459G	possibly damaging	Het
Csrp2	A	T	10: 110,935,205	Y57F	probably benign	Het
Ctdspl	C	T	9: 119,040,582	P244L	probably damaging	Het
Cyp2c29	A	G	19: 39,324,968	R303G	probably damaging	Het
Cyp4a10	C	A	4: 115,518,435	Y38*	probably null	Het
Dmgdh	T	A	13: 93,744,411	I783N	probably damaging	Het
Efcc1	G	A	6: 87,731,166	E92K	probably benign	Het
Eif2ak4	T	A	2: 118,443,210	L872H	probably damaging	Het
Elp2	T	A	18: 24,631,404	S603T	probably benign	Het
Eml2	T	A	7: 19,196,254	L300H	probably damaging	Het
Esp3	A	G	17: 40,635,936	K50R	possibly damaging	Het
Esrp1	A	G	4: 11,379,375	F136L	probably damaging	Het
Exoc1	T	A	5: 76,559,164	D497E	probably damaging	Het
Fat3	A	G	9: 15,997,465	S2414P	probably damaging	Het
Foxj3	C	T	4: 119,620,201	P369S	unknown	Het
Gkn2	G	T	6: 87,375,939		probably null	Het
Gm17333	AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA	AAGAAGAGAAGAGAAGAGAAGAGAAGAGAA	16: 77,852,878		noncoding transcript	Het
Gm21905	A	T	5: 67,946,381		probably benign	Het
Grhl1	T	A	12: 24,582,963		probably null	Het
Grk6	A	G	13: 55,452,154	Y221C	probably damaging	Het
Hcrtr1	T	A	4: 130,130,927	K389*	probably null	Het
Hk1	G	A	10: 62,284,784	R545C	probably damaging	Het
Hsp90b1	A	T	10: 86,696,795	I339N	probably benign	Het
Ikzf3	T	C	11: 98,490,446	R103G	probably damaging	Het
Itgad	A	C	7: 128,178,370	I141L	probably benign	Het
Jmjd6	T	A	11: 116,842,440	Y137F	probably benign	Het
Kcna1	A	G	6: 126,642,067	V430A	probably benign	Het
Kel	A	G	6: 41,688,626	V520A	probably damaging	Het
Klhl41	G	A	2: 69,670,740	V182I	probably benign	Het
Ldhb	C	A	6: 142,501,395	M64I	probably benign	Het
Lrrc23	A	G	6: 124,776,114	S190P	possibly damaging	Het
Mb21d1	A	G	9: 78,442,481	Y200H	probably damaging	Het
Mboat2	T	C	12: 24,959,030	V445A	probably benign	Het
Mlycd	G	A	8: 119,401,519	W188*	probably null	Het
Mpp3	C	T	11: 102,008,649	E349K	probably benign	Het
Myh4	A	G	11: 67,250,540	M780V	probably benign	Het
Myh6	G	A	14: 54,956,506	R809C	probably damaging	Het
Mylip	G	A	13: 45,406,570	V161M	possibly damaging	Het
Nrp1	G	A	8: 128,425,969	V220I	probably null	Het
Nup210	A	T	6: 91,034,841	N455K	probably benign	Het
Olfr116	A	T	17: 37,624,352	Y94*	probably null	Het
Olfr583	C	A	7: 103,051,588	Q97K	probably benign	Het
Pbld2	G	T	10: 63,053,953		probably null	Het
Pclo	C	G	5: 14,521,903	P434R	probably damaging	Het
Pdlim3	A	G	8: 45,896,763	K37E	probably damaging	Het
Prkdc	T	A	16: 15,772,106	I2611N	probably benign	Het
Prr12	T	C	7: 45,028,530	D2019G	unknown	Het
Rab27a	A	G	9: 73,095,403	T205A	probably benign	Het
Rcan3	A	G	4: 135,425,284	L42P	probably damaging	Het
Rchy1	T	C	5: 91,955,615		probably null	Het
Sema6a	T	C	18: 47,248,999	H827R	probably damaging	Het
Sertad4	A	G	1: 192,850,950		probably null	Het
Smarcd1	T	A	15: 99,707,383	C282S	probably damaging	Het
Speg	A	G	1: 75,401,222	T769A	possibly damaging	Het
Syne1	T	A	10: 5,347,875	K1141*	probably null	Het
Synpo2	T	C	3: 123,117,666	E110G	probably benign	Het
Tg	T	A	15: 66,850,502	D333E	probably benign	Het
Tmem132c	A	G	5: 127,359,891	Y148C	probably damaging	Het
Tmem215	T	A	4: 40,473,965	V14E	probably damaging	Het
Tmem229b	A	G	12: 78,964,911	L82P	probably damaging	Het
Togaram1	A	G	12: 64,966,265	T97A	probably benign	Het
Trappc9	G	A	15: 72,693,548	R965*	probably null	Het
Trio	T	C	15: 27,832,985	I104V	probably benign	Het
Trp73	A	G	4: 154,063,895	F354S	probably benign	Het
Ttyh2	T	C	11: 114,686,452	L63P	probably damaging	Het
Ulk4	G	C	9: 121,044,775	P1197A	probably damaging	Het
Vmn1r176	T	C	7: 23,835,111	M206V	possibly damaging	Het
Vps8	T	A	16: 21,466,476	Y402*	probably null	Het
Zbtb41	A	G	1: 139,423,193	I15V	probably benign	Het
Zmynd19	T	A	2: 24,958,111	N106K	probably benign	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
IGL02458:Zc3hav1	APN	6	38340329	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- ATACTGGTTCACGGTAAGCGGAGG -3'
(R):5'- CAGAGGCACTGTCATGTTCGTAGC -3'

Sequencing Primer
(F):5'- CTAGACGCGAATTGCACTTTG -3'
(R):5'- ATGTTCGTAGCCCGAGTCC -3'

Posted On

2014-04-13