Mutagenetix > Incidental Mutations

Incidental Mutation 'R0452:Zc3hav1'

39673

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

038652-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

R0452 (G1)

Quality Score

187

Status

Validated

Chromosome

Chromosomal Location

38305286-38354603 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 38307437 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 914 (E914D)

Ref Sequence

ENSEMBL: ENSMUSP00000110550 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000114900
AA Change: E914D

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000110550
Gene: ENSMUSG00000029826
AA Change: E914D

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.7%

Validation Efficiency

99% (93/94)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030452D12Rik	A	G	8: 106,507,190		probably benign	Het
Acap3	C	A	4: 155,902,328	S347*	probably null	Het
Acvr1	G	A	2: 58,500,495	P19L	probably benign	Het
Add2	G	T	6: 86,104,629	E366*	probably null	Het
Ankrd28	C	A	14: 31,748,738	A153S	probably damaging	Het
Anxa8	A	T	14: 34,094,770	I206F	probably damaging	Het
Arhgef4	G	A	1: 34,732,322	E1237K	probably damaging	Het
Arid1a	C	T	4: 133,689,105	A1120T	unknown	Het
Atad5	T	C	11: 80,106,421	V857A	probably damaging	Het
Atp2a3	T	A	11: 72,977,232		probably null	Het
Atxn1l	C	T	8: 109,732,395	V412I	possibly damaging	Het
Card11	A	G	5: 140,880,370	S923P	probably benign	Het
Cars	C	A	7: 143,592,625	E21*	probably null	Het
Ccdc115	A	G	1: 34,437,621		probably benign	Het
Ccnj	T	A	19: 40,845,064		probably null	Het
Cds2	C	T	2: 132,298,479	T182I	probably damaging	Het
Ceacam14	A	G	7: 17,815,323	H213R	probably benign	Het
Cfap44	A	T	16: 44,431,945	M806L	probably benign	Het
Chd8	A	T	14: 52,214,587	I1317K	probably damaging	Het
Cherp	A	T	8: 72,461,522		probably benign	Het
Creb5	C	G	6: 53,604,542	T30S	possibly damaging	Het
Csf2ra	A	G	19: 61,226,895	M94T	probably benign	Het
Cyp2b19	A	C	7: 26,766,762	D330A	probably benign	Het
Ddost	G	A	4: 138,310,188	V188M	possibly damaging	Het
Dnah7a	A	T	1: 53,605,819	D1019E	probably benign	Het
Dtx1	A	T	5: 120,694,992	I127N	possibly damaging	Het
Dyrk2	T	C	10: 118,868,763	T3A	possibly damaging	Het
Elovl5	C	T	9: 77,960,911	T35M	probably damaging	Het
Emc7	T	C	2: 112,466,969		probably benign	Het
Erp27	T	C	6: 136,909,489	Y182C	probably damaging	Het
Exoc2	T	A	13: 30,886,327		probably benign	Het
F5	A	C	1: 164,185,107	D530A	probably damaging	Het
Fam149a	A	T	8: 45,355,649	V149E	probably damaging	Het
Fbxo41	A	G	6: 85,478,182	S614P	probably damaging	Het
Fmn1	T	A	2: 113,636,779	Y1342N	possibly damaging	Het
Gm10334	A	G	6: 41,445,337	Y45H	probably benign	Het
Gpr22	T	A	12: 31,708,794	D443V	possibly damaging	Het
Il17rd	T	A	14: 27,091,931	W56R	probably damaging	Het
Itga2b	A	T	11: 102,465,953		probably null	Het
Jmjd1c	T	C	10: 67,255,482	M2514T	probably benign	Het
Klk9	T	C	7: 43,794,251		probably benign	Het
Krr1	T	C	10: 111,975,598	Y66H	probably damaging	Het
Lamb2	T	C	9: 108,486,354		probably benign	Het
Lgals3bp	A	T	11: 118,393,464	Y430N	probably benign	Het
Lrp10	T	C	14: 54,467,579	V113A	probably benign	Het
Mgam	A	G	6: 40,759,090	Y841C	probably damaging	Het
Nisch	T	A	14: 31,177,464		probably benign	Het
Nlrp4d	G	A	7: 10,378,292	T650I	probably benign	Het
Olfr1314	T	A	2: 112,092,636	K22*	probably null	Het
Olfr506	C	T	7: 108,612,370	T21I	possibly damaging	Het
Parp4	A	G	14: 56,648,843	D1793G	unknown	Het
Pcm1	A	G	8: 41,325,905	D1850G	probably benign	Het
Pgap2	G	A	7: 102,236,462	A145T	probably damaging	Het
Phc1	G	A	6: 122,323,036	A583V	probably damaging	Het
Plcd3	G	A	11: 103,071,259		probably benign	Het
Ppm1m	T	A	9: 106,197,302	Q214L	probably damaging	Het
Prkg2	A	G	5: 98,997,520		probably benign	Het
Rasal3	T	C	17: 32,395,817		probably benign	Het
Rfc1	A	T	5: 65,264,297	D1086E	probably benign	Het
Rnf145	T	A	11: 44,561,760	L522H	probably damaging	Het
Setd2	T	A	9: 110,553,100		probably null	Het
Sik1	C	A	17: 31,849,081	V377F	possibly damaging	Het
Slc44a4	T	C	17: 34,928,095	I367T	possibly damaging	Het
Slfn3	A	G	11: 83,213,128	D275G	possibly damaging	Het
Smarcad1	A	T	6: 65,074,822	N313I	possibly damaging	Het
Smc4	A	T	3: 69,008,028	K138*	probably null	Het
Smg6	T	A	11: 74,930,213	S437T	probably benign	Het
Spaca9	G	T	2: 28,695,993	Q20K	probably damaging	Het
Spatc1	T	G	15: 76,268,293	I41S	probably damaging	Het
Spink5	A	T	18: 43,963,318	T5S	possibly damaging	Het
St3gal1	C	A	15: 67,109,655		probably benign	Het
Stat5a	C	A	11: 100,863,135	T97K	probably benign	Het
Stat5b	A	T	11: 100,798,330	I246N	probably benign	Het
Supt6	G	T	11: 78,227,003	D462E	probably damaging	Het
Swi5	A	T	2: 32,281,824		probably benign	Het
Syne1	A	T	10: 5,405,435	V375E	probably damaging	Het
Tcp1	T	C	17: 12,924,352	F516S	probably benign	Het
Tdrd7	A	T	4: 45,965,488		probably benign	Het
Tgfbr3	A	T	5: 107,140,423	N457K	probably benign	Het
Tmem209	A	G	6: 30,487,381	M500T	probably damaging	Het
Tmem44	C	T	16: 30,517,463		probably benign	Het
Ttc21a	T	A	9: 119,939,154		probably benign	Het
Ttn	T	A	2: 76,836,003	I88F	possibly damaging	Het
Ttn	A	G	2: 76,871,110		probably benign	Het
Ube2w	T	C	1: 16,602,255		probably benign	Het
Ufc1	C	T	1: 171,289,954		probably benign	Het
Uhmk1	A	G	1: 170,212,402	M132T	possibly damaging	Het
Usp29	A	G	7: 6,963,182	N675D	possibly damaging	Het
Vmn1r23	A	G	6: 57,926,484	V103A	possibly damaging	Het
Wdr59	G	T	8: 111,521,972	R4S	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
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
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

Predicted Primers

PCR Primer
(F):5'- CGCCAAGGACTATAAGAACACCTGATAC -3'
(R):5'- tgatgctgaggattaactatTGAGGGCT -3'

Sequencing Primer
(F):5'- GGTTTCAGCATGGTATACATCC -3'
(R):5'- TTATAGGTGTCAGTCAGGTGTTG -3'

Posted On

2013-05-23