Mutagenetix > Incidental Mutation

Incidental Mutation 'R7319:Zc3hav1'

568051

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

045415-MU

Accession Numbers

Essential gene?

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

Stock #

R7319 (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 38309209 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 538 (S538P)

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: S538P

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

SMART Domains

Protein: ENSMUSP00000031850
Gene: ENSMUSG00000029826
AA Change: S538P

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

SMART Domains

Protein: ENSMUSP00000110548
Gene: ENSMUSG00000029826

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

possibly damaging
Transcript: ENSMUST00000114900
AA Change: S538P

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110550
Gene: ENSMUSG00000029826
AA Change: S538P

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: S538P

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

SMART Domains

Protein: ENSMUSP00000144312
Gene: ENSMUSG00000029826
AA Change: S538P

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: 99.7%
20x: 99.1%

Validation Efficiency

96% (79/82)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930012K11Rik	A	T	14: 70,393,635 (GRCm39)	I287N	probably benign	Het
Aco2	G	T	15: 81,787,820 (GRCm39)	E223D	probably damaging	Het
Acsf3	T	A	8: 123,539,770 (GRCm39)	I466N	probably damaging	Het
Albfm1	G	A	5: 90,719,625 (GRCm39)		probably null	Het
Aox3	T	A	1: 58,191,761 (GRCm39)	F438I	probably benign	Het
Arhgap33	T	C	7: 30,225,794 (GRCm39)	T591A	probably benign	Het
Ash1l	C	T	3: 88,888,694 (GRCm39)	A191V	probably benign	Het
Btg2	T	C	1: 134,006,779 (GRCm39)	K5E	probably benign	Het
C1galt1	T	A	6: 7,871,150 (GRCm39)	Y329N	probably damaging	Het
Cacna1h	A	G	17: 25,608,435 (GRCm39)	I824T	possibly damaging	Het
Carmil3	A	G	14: 55,731,817 (GRCm39)	I182V	probably benign	Het
Ccdc150	T	A	1: 54,302,496 (GRCm39)		probably null	Het
Chek1	T	A	9: 36,633,939 (GRCm39)	R129W	probably damaging	Het
Chrna6	A	G	8: 27,896,815 (GRCm39)	M354T	possibly damaging	Het
Cpq	A	G	15: 33,250,185 (GRCm39)	T181A	probably benign	Het
Csmd2	A	T	4: 128,287,472 (GRCm39)	Y1069F		Het
Defb28	T	A	2: 152,361,974 (GRCm39)	C45S	possibly damaging	Het
Dnah1	A	G	14: 31,018,551 (GRCm39)	Y1360H	probably benign	Het
Dnah7c	T	C	1: 46,823,608 (GRCm39)	V3749A	possibly damaging	Het
Dnah7c	T	A	1: 46,819,935 (GRCm39)	D3728E	probably benign	Het
Dym	G	A	18: 75,196,245 (GRCm39)		probably null	Het
Dync2i2	G	A	2: 29,928,341 (GRCm39)	P95L	probably benign	Het
Dzip3	A	G	16: 48,747,903 (GRCm39)		probably null	Het
Eef1akmt4	A	G	16: 20,436,666 (GRCm39)	K163E	probably benign	Het
Fbrs	A	G	7: 127,081,985 (GRCm39)	T242A	possibly damaging	Het
Fgfr3	G	A	5: 33,885,146 (GRCm39)	V87M	possibly damaging	Het
Fst	A	T	13: 114,595,068 (GRCm39)	C19S	probably benign	Het
Gm7276	G	A	18: 77,273,216 (GRCm39)	R173W	unknown	Het
Gm9195	G	A	14: 72,697,929 (GRCm39)	H1284Y	probably benign	Het
Herc6	C	A	6: 57,581,074 (GRCm39)	T258K	probably damaging	Het
Hip1r	A	G	5: 124,137,174 (GRCm39)	Y678C	probably damaging	Het
Ifne	A	T	4: 88,798,243 (GRCm39)	N58K	probably damaging	Het
Ighv1-26	A	T	12: 114,752,163 (GRCm39)	H60Q	possibly damaging	Het
Ints1	A	G	5: 139,746,520 (GRCm39)	F1276L	probably damaging	Het
Itprid2	A	T	2: 79,466,416 (GRCm39)	D82V	probably damaging	Het
Kcnc4	T	A	3: 107,366,100 (GRCm39)	E36V	probably benign	Het
Kcnq2	C	T	2: 180,750,895 (GRCm39)	G315S	probably damaging	Het
Kdm4c	G	A	4: 74,255,200 (GRCm39)	V585M	probably damaging	Het
Klhl26	C	T	8: 70,905,592 (GRCm39)	R106H	probably damaging	Het
Kmo	T	C	1: 175,481,221 (GRCm39)	F313S	probably damaging	Het
Lmtk3	T	A	7: 45,443,740 (GRCm39)	S808T	unknown	Het
Lrch3	A	G	16: 32,815,363 (GRCm39)	T585A	probably benign	Het
Lrch4	T	A	5: 137,637,977 (GRCm39)	H86Q		Het
Map3k20	A	G	2: 72,195,062 (GRCm39)	D113G	probably damaging	Het
Mbd3l1	T	C	9: 18,396,417 (GRCm39)	S181P	probably benign	Het
Mccc2	T	C	13: 100,104,241 (GRCm39)	T303A	probably benign	Het
Med27	A	G	2: 29,303,490 (GRCm39)	R147G	possibly damaging	Het
Mrps5	T	A	2: 127,437,762 (GRCm39)	S196R	possibly damaging	Het
Muc21	GGGGTGGGCATAGATCCTGAGGCAGAGCTGGATGCAGTGGTGGTCAGGGTGGG	GGGGTGGG	17: 35,932,935 (GRCm39)		probably benign	Het
Myo16	A	T	8: 10,526,185 (GRCm39)		probably null	Het
Nudt2	A	T	4: 41,477,575 (GRCm39)	M19L	probably benign	Het
Pcdha11	C	T	18: 37,146,245 (GRCm39)	P779S	probably benign	Het
Phykpl	A	G	11: 51,489,530 (GRCm39)	T379A	probably benign	Het
Plekha8	A	C	6: 54,601,206 (GRCm39)	M270L	probably benign	Het
Plekhg5	A	G	4: 152,192,885 (GRCm39)	H593R	probably benign	Het
Polr2a	T	C	11: 69,637,196 (GRCm39)	N293S	possibly damaging	Het
Pramel32	G	A	4: 88,548,184 (GRCm39)	P74S	probably benign	Het
Prex2	T	A	1: 11,232,532 (GRCm39)	N866K	probably benign	Het
Psme4	A	T	11: 30,757,790 (GRCm39)	I308L	probably benign	Het
Ptprb	T	C	10: 116,177,309 (GRCm39)	V1003A	probably benign	Het
Rbbp8	T	A	18: 11,865,269 (GRCm39)	D719E	probably damaging	Het
Rnaset2b	A	T	17: 7,259,166 (GRCm39)	D144V	probably benign	Het
Senp6	T	G	9: 80,033,481 (GRCm39)	D662E	probably damaging	Het
Serpinb3c	T	C	1: 107,200,817 (GRCm39)	N200S	possibly damaging	Het
Serpinb9g	C	G	13: 33,672,543 (GRCm39)	Y113*	probably null	Het
Sgf29	T	C	7: 126,270,821 (GRCm39)	I134T	probably benign	Het
Sh3bp4	T	G	1: 89,080,824 (GRCm39)		probably null	Het
Stab1	G	A	14: 30,862,783 (GRCm39)	L2243F	probably damaging	Het
Sympk	T	C	7: 18,769,770 (GRCm39)	V149A	probably benign	Het
Syt3	C	T	7: 44,041,953 (GRCm39)	Q271*	probably null	Het
Tas2r109	A	G	6: 132,957,663 (GRCm39)	I89T	probably benign	Het
Tgif1	A	G	17: 71,151,847 (GRCm39)	S255P	probably damaging	Het
Tm9sf1	G	A	14: 55,875,432 (GRCm39)		probably benign	Het
Tnf	A	G	17: 35,419,347 (GRCm39)	F161S	possibly damaging	Het
Topaz1	T	A	9: 122,579,428 (GRCm39)	S779R	possibly damaging	Het
Topors	A	G	4: 40,260,540 (GRCm39)	S915P	unknown	Het
Tpm4	C	T	8: 72,900,321 (GRCm39)	L161F	probably damaging	Het
Trim38	C	T	13: 23,975,384 (GRCm39)	T441I	probably damaging	Het
Trpv1	A	G	11: 73,141,620 (GRCm39)	M548V	probably benign	Het
Vmn2r68	T	A	7: 84,883,042 (GRCm39)	T237S	probably benign	Het
Zfp541	C	T	7: 15,813,294 (GRCm39)	T649I	probably benign	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
R7196:Zc3hav1	UTSW	6	38,306,207 (GRCm39)	missense	probably benign
R7248:Zc3hav1	UTSW	6	38,330,911 (GRCm39)	missense	probably benign	0.04
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'- TCAGGTAGGCGATTCAGTGC -3'
(R):5'- CAGGTACATCTACCCATAACGG -3'

Sequencing Primer
(F):5'- AGGCGATTCAGTGCCGTGG -3'
(R):5'- AGTCAAATTATGGATGAAACGCC -3'

Posted On

2019-06-26