Mutagenetix > Incidental Mutation

Incidental Mutation 'R7196:Zc3hav1'

559918

Institutional Source

Beutler Lab

Gene Symbol

Zc3hav1

Ensembl Gene

ENSMUSG00000029826

Gene Name

zinc finger CCCH type, antiviral 1

Synonyms

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

MMRRC Submission

045275-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R7196 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38282221-38331538 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38306207 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 615 (V615A)

Ref Sequence

ENSEMBL: ENSMUSP00000144312 (fasta)

Gene Model

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

AlphaFold

Q3UPF5

Predicted Effect

probably benign
Transcript: ENSMUST00000031850
AA Change: V615A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000031850
Gene: ENSMUSG00000029826
AA Change: V615A

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 benign
Transcript: ENSMUST00000114898
AA Change: V499A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000110548
Gene: ENSMUSG00000029826
AA Change: V499A

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 benign
Transcript: ENSMUST00000114900
AA Change: V615A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000110550
Gene: ENSMUSG00000029826
AA Change: V615A

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
AA Change: V615A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000144312
Gene: ENSMUSG00000029826
AA Change: V615A

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

99% (94/95)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	AGCTTCCCTGCTT	AGCTT	9: 57,165,505 (GRCm39)		probably null	Het
4921504E06Rik	A	C	2: 19,498,806 (GRCm39)	S396A	probably benign	Het
Actr6	C	A	10: 89,550,784 (GRCm39)	V337F	possibly damaging	Het
Agtpbp1	T	C	13: 59,680,994 (GRCm39)	T73A	possibly damaging	Het
AI182371	A	T	2: 34,976,441 (GRCm39)		probably null	Het
Apob	A	G	12: 8,033,893 (GRCm39)	E202G	possibly damaging	Het
Asb4	A	T	6: 5,423,356 (GRCm39)	M168L	probably benign	Het
AU018091	T	C	7: 3,213,788 (GRCm39)	Y152C	probably damaging	Het
Casp3	G	A	8: 47,088,498 (GRCm39)	G132R	possibly damaging	Het
Cbfa2t3	C	A	8: 123,365,729 (GRCm39)	A229S	probably benign	Het
Cdh23	A	T	10: 60,143,759 (GRCm39)	Y2949N	probably damaging	Het
Ceacam3	T	C	7: 16,888,881 (GRCm39)	Y217H		Het
Cldn5	A	T	16: 18,595,630 (GRCm39)		probably benign	Het
Cltc	T	C	11: 86,597,657 (GRCm39)	D1093G	probably damaging	Het
Cnn3	G	A	3: 121,248,437 (GRCm39)		probably null	Het
Col4a2	A	G	8: 11,448,693 (GRCm39)	Y71C	probably damaging	Het
Csf1	T	C	3: 107,661,214 (GRCm39)	D77G	possibly damaging	Het
Cyp2j7	T	A	4: 96,103,651 (GRCm39)	T295S	probably benign	Het
Dnah7a	A	T	1: 53,724,000 (GRCm39)	M133K	probably benign	Het
Dock5	G	A	14: 67,993,919 (GRCm39)	P1852L	probably damaging	Het
Dpysl3	T	A	18: 43,462,910 (GRCm39)	D489V	probably damaging	Het
Dsg4	T	C	18: 20,599,537 (GRCm39)	Y718H	probably damaging	Het
Dync2h1	G	A	9: 7,147,715 (GRCm39)	Q972*	probably null	Het
Epn1	G	A	7: 5,096,380 (GRCm39)	D225N	possibly damaging	Het
Esp4	A	G	17: 40,913,256 (GRCm39)	E41G	probably benign	Het
Fam171a2	T	C	11: 102,329,172 (GRCm39)	D529G	probably benign	Het
Fbxl13	A	T	5: 21,691,301 (GRCm39)	I694N	probably damaging	Het
Fshr	C	T	17: 89,292,897 (GRCm39)	A594T	probably damaging	Het
Galnt3	A	G	2: 65,921,268 (GRCm39)	Y533H	probably damaging	Het
Gja5	C	A	3: 96,958,422 (GRCm39)	R160S	probably damaging	Het
Gm12353	A	T	4: 19,608,938 (GRCm39)	D7V	unknown	Het
Gm17669	T	C	18: 67,695,572 (GRCm39)	F39S	probably damaging	Het
Gm7145	T	A	1: 117,913,791 (GRCm39)	N224K	possibly damaging	Het
Gpd1	G	T	15: 99,619,936 (GRCm39)	G245C	probably benign	Het
Gpr4	G	A	7: 18,957,089 (GRCm39)	G337D	probably benign	Het
Hgd	G	A	16: 37,409,078 (GRCm39)	C14Y	probably benign	Het
Ibtk	A	T	9: 85,625,709 (GRCm39)	S14T	probably damaging	Het
Ifi205	G	T	1: 173,854,109 (GRCm39)	N181K	probably damaging	Het
Inppl1	G	A	7: 101,477,993 (GRCm39)	A673V	probably benign	Het
Itgb3	C	A	11: 104,524,438 (GRCm39)	Y191*	probably null	Het
Jrkl	G	T	9: 13,244,162 (GRCm39)	P500T	probably benign	Het
Kcnq1	G	A	7: 142,912,478 (GRCm39)	V515I	possibly damaging	Het
Kifc3	A	G	8: 95,833,239 (GRCm39)	V453A	probably benign	Het
Krt10	C	T	11: 99,278,371 (GRCm39)	E263K	probably damaging	Het
Lingo1	A	T	9: 56,527,903 (GRCm39)	F235I	probably damaging	Het
Lmo7	T	A	14: 102,133,936 (GRCm39)	D660E	possibly damaging	Het
Magi3	A	C	3: 103,956,484 (GRCm39)	C661W	probably benign	Het
Mmp1a	C	T	9: 7,476,018 (GRCm39)	Q428*	probably null	Het
Msrb1	A	T	17: 24,958,556 (GRCm39)	T47S	probably benign	Het
Naip6	A	T	13: 100,436,666 (GRCm39)	I619K	probably benign	Het
Ndfip2	T	C	14: 105,535,472 (GRCm39)	S253P	probably damaging	Het
Nebl	A	T	2: 17,457,329 (GRCm39)	V77E	probably damaging	Het
Nit1	T	C	1: 171,172,003 (GRCm39)	E65G	probably benign	Het
Ntn4	C	T	10: 93,569,576 (GRCm39)	H430Y	probably benign	Het
Nxpe5	A	T	5: 138,237,586 (GRCm39)	I49F	probably benign	Het
Or10a2	A	G	7: 106,673,935 (GRCm39)	N300S	probably benign	Het
Or10c1	A	G	17: 37,522,084 (GRCm39)	I220T	probably damaging	Het
Or14c46	A	T	7: 85,918,649 (GRCm39)	M116K	probably damaging	Het
Or1e23	A	G	11: 73,407,957 (GRCm39)	Y23H	probably benign	Het
Or1m1	A	T	9: 18,666,886 (GRCm39)	L15*	probably null	Het
Or4k49	T	G	2: 111,495,042 (GRCm39)	L157W	probably damaging	Het
Or52s6	A	T	7: 103,092,204 (GRCm39)	M42K	probably benign	Het
Or7e178	A	G	9: 20,225,494 (GRCm39)	Y241H	probably benign	Het
Oxct2a	T	A	4: 123,217,165 (GRCm39)	N72I	probably damaging	Het
Pappa	G	A	4: 65,242,128 (GRCm39)		probably null	Het
Pcnx1	G	A	12: 82,042,312 (GRCm39)	R34H	possibly damaging	Het
Plekha5	G	T	6: 140,489,648 (GRCm39)	V236L	possibly damaging	Het
Prdm1	A	G	10: 44,332,988 (GRCm39)	S44P	probably benign	Het
Prss46	T	A	9: 110,680,533 (GRCm39)	L226Q	probably benign	Het
Prss47	C	A	13: 65,192,640 (GRCm39)	W380C	probably benign	Het
Ptch2	T	G	4: 116,971,946 (GRCm39)	V1156G	probably benign	Het
Rab3gap2	T	C	1: 185,013,864 (GRCm39)	F1190S	probably damaging	Het
Raver2	T	G	4: 100,960,056 (GRCm39)	Y179D	probably damaging	Het
Rgl2	C	T	17: 34,152,403 (GRCm39)	R367W	probably damaging	Het
Ripor2	T	G	13: 24,888,808 (GRCm39)	I629S	possibly damaging	Het
Robo4	T	A	9: 37,314,001 (GRCm39)	M84K	possibly damaging	Het
Rps6ka5	A	T	12: 100,562,123 (GRCm39)	S252T	possibly damaging	Het
Rtl1	C	T	12: 109,559,221 (GRCm39)	V873M	possibly damaging	Het
Sla	T	A	15: 66,703,420 (GRCm39)	R4W	probably benign	Het
Smco1	A	G	16: 32,092,620 (GRCm39)	D97G	probably damaging	Het
Srgap1	T	C	10: 121,676,753 (GRCm39)	T414A	probably benign	Het
Syt14	A	G	1: 192,717,936 (GRCm39)	I3T	probably benign	Het
Tnpo2	G	A	8: 85,773,766 (GRCm39)	V303M	possibly damaging	Het
Tstd2	A	C	4: 46,119,955 (GRCm39)	S332R	probably damaging	Het
Ttn	C	A	2: 76,582,386 (GRCm39)	A22836S	possibly damaging	Het
Ufl1	A	G	4: 25,250,669 (GRCm39)	V728A	probably benign	Het
Usp33	A	T	3: 152,089,828 (GRCm39)	K789N	possibly damaging	Het
Usp54	T	A	14: 20,638,438 (GRCm39)	Q214L	probably damaging	Het
Vmn2r7	T	G	3: 64,623,198 (GRCm39)	N374T	probably benign	Het
Zbtb7a	T	A	10: 80,980,434 (GRCm39)	N209K	probably damaging	Het
Zdhhc20	A	G	14: 58,111,348 (GRCm39)		probably null	Het
Zfp90	G	T	8: 107,151,780 (GRCm39)	V498L	probably damaging	Het

Other mutations in Zc3hav1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01934:Zc3hav1	APN	6	38,296,768 (GRCm39)	splice site	probably null
IGL02225:Zc3hav1	APN	6	38,317,276 (GRCm39)	missense	probably damaging	1.00
IGL02266:Zc3hav1	APN	6	38,309,103 (GRCm39)	missense	probably benign	0.01
IGL02458:Zc3hav1	APN	6	38,317,264 (GRCm39)	missense	probably damaging	1.00
IGL02626:Zc3hav1	APN	6	38,309,926 (GRCm39)	missense	probably damaging	0.96
IGL02725:Zc3hav1	APN	6	38,309,127 (GRCm39)	missense	probably damaging	0.98
IGL02958:Zc3hav1	APN	6	38,309,919 (GRCm39)	missense	probably damaging	1.00
IGL03104:Zc3hav1	APN	6	38,317,278 (GRCm39)	missense	probably damaging	1.00
IGL03137:Zc3hav1	APN	6	38,309,329 (GRCm39)	missense	probably benign
IGL03238:Zc3hav1	APN	6	38,309,685 (GRCm39)	missense	probably damaging	0.99
IGL03380:Zc3hav1	APN	6	38,313,493 (GRCm39)	missense	probably damaging	1.00
IGL03055:Zc3hav1	UTSW	6	38,293,251 (GRCm39)	splice site	probably null
P0038:Zc3hav1	UTSW	6	38,309,469 (GRCm39)	missense	probably damaging	0.98
R0006:Zc3hav1	UTSW	6	38,296,637 (GRCm39)	critical splice donor site	probably null
R0207:Zc3hav1	UTSW	6	38,288,109 (GRCm39)	missense	probably benign	0.00
R0255:Zc3hav1	UTSW	6	38,313,485 (GRCm39)	missense	probably damaging	1.00
R0452:Zc3hav1	UTSW	6	38,284,372 (GRCm39)	missense	probably benign	0.01
R0505:Zc3hav1	UTSW	6	38,309,599 (GRCm39)	missense	probably damaging	1.00
R0865:Zc3hav1	UTSW	6	38,330,837 (GRCm39)	splice site	probably benign
R1281:Zc3hav1	UTSW	6	38,330,872 (GRCm39)	missense	probably damaging	1.00
R1531:Zc3hav1	UTSW	6	38,284,170 (GRCm39)	missense	possibly damaging	0.91
R1873:Zc3hav1	UTSW	6	38,309,692 (GRCm39)	missense	possibly damaging	0.50
R1991:Zc3hav1	UTSW	6	38,313,452 (GRCm39)	missense	probably damaging	1.00
R2149:Zc3hav1	UTSW	6	38,313,472 (GRCm39)	missense	probably damaging	1.00
R2184:Zc3hav1	UTSW	6	38,284,343 (GRCm39)	missense	probably damaging	0.99
R2365:Zc3hav1	UTSW	6	38,317,168 (GRCm39)	missense	probably damaging	1.00
R2924:Zc3hav1	UTSW	6	38,331,045 (GRCm39)	missense	probably damaging	0.97
R3237:Zc3hav1	UTSW	6	38,296,650 (GRCm39)	missense	probably damaging	1.00
R3710:Zc3hav1	UTSW	6	38,309,097 (GRCm39)	missense	probably benign	0.35
R5683:Zc3hav1	UTSW	6	38,284,172 (GRCm39)	missense	probably damaging	1.00
R5684:Zc3hav1	UTSW	6	38,288,214 (GRCm39)	missense	probably benign	0.01
R5905:Zc3hav1	UTSW	6	38,284,275 (GRCm39)	missense	probably benign	0.03
R5959:Zc3hav1	UTSW	6	38,284,379 (GRCm39)	missense	probably benign	0.01
R6028:Zc3hav1	UTSW	6	38,284,275 (GRCm39)	missense	probably benign	0.03
R6261:Zc3hav1	UTSW	6	38,309,935 (GRCm39)	missense	probably benign	0.24
R6465:Zc3hav1	UTSW	6	38,308,784 (GRCm39)	missense	possibly damaging	0.85
R6682:Zc3hav1	UTSW	6	38,302,130 (GRCm39)	missense	probably benign	0.02
R6831:Zc3hav1	UTSW	6	38,309,103 (GRCm39)	missense	probably benign	0.01
R7082:Zc3hav1	UTSW	6	38,309,328 (GRCm39)	nonsense	probably null
R7248:Zc3hav1	UTSW	6	38,330,911 (GRCm39)	missense	probably benign	0.04
R7319:Zc3hav1	UTSW	6	38,309,209 (GRCm39)	missense	probably benign
R7506:Zc3hav1	UTSW	6	38,309,875 (GRCm39)	nonsense	probably null
R7593:Zc3hav1	UTSW	6	38,306,121 (GRCm39)	missense	probably benign	0.01
R7788:Zc3hav1	UTSW	6	38,309,691 (GRCm39)	missense	probably benign	0.02
R7885:Zc3hav1	UTSW	6	38,313,598 (GRCm39)	missense	possibly damaging	0.82
R7892:Zc3hav1	UTSW	6	38,306,156 (GRCm39)	missense	probably benign	0.25
R8109:Zc3hav1	UTSW	6	38,306,114 (GRCm39)	missense	probably damaging	1.00
R8769:Zc3hav1	UTSW	6	38,313,416 (GRCm39)	missense	possibly damaging	0.81
R8880:Zc3hav1	UTSW	6	38,288,212 (GRCm39)	missense	probably benign
R9002:Zc3hav1	UTSW	6	38,302,176 (GRCm39)	missense	possibly damaging	0.94
R9527:Zc3hav1	UTSW	6	38,330,913 (GRCm39)	missense	probably damaging	1.00
R9558:Zc3hav1	UTSW	6	38,331,042 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- CCTCGAGTGACTAAATCTTCCCAG -3'
(R):5'- TGGGACACTATGCAAGCAG -3'

Sequencing Primer
(F):5'- ACTAAGCAGCTTGGTGTACC -3'
(R):5'- ACTATGCAAGCAGAGGCC -3'

Posted On

2019-06-26