Incidental Mutation 'R6465:Zc3hav1'
ID 517770
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 044598-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R6465 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 38282221-38331538 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38308784 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 586 (Y586C)
Ref Sequence ENSEMBL: ENSMUSP00000110550 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031850] [ENSMUST00000114898] [ENSMUST00000114900] [ENSMUST00000143702]
AlphaFold Q3UPF5
Predicted Effect possibly damaging
Transcript: ENSMUST00000031850
AA Change: Y586C

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000031850
Gene: ENSMUSG00000029826
AA Change: Y586C

DomainStartEndE-ValueType
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: Y470C

PolyPhen 2 Score 0.393 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000110548
Gene: ENSMUSG00000029826
AA Change: Y470C

DomainStartEndE-ValueType
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: Y586C

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000110550
Gene: ENSMUSG00000029826
AA Change: Y586C

DomainStartEndE-ValueType
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: Y586C

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000144312
Gene: ENSMUSG00000029826
AA Change: Y586C

DomainStartEndE-ValueType
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 0.1712 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.1%
Validation Efficiency 95% (40/42)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 G A 6: 128,518,041 (GRCm39) T1415I probably damaging Het
Acvr2b T A 9: 119,262,369 (GRCm39) W461R probably damaging Het
Adam23 G T 1: 63,605,827 (GRCm39) C637F probably damaging Het
Apol8 T G 15: 77,634,148 (GRCm39) T143P probably benign Het
Bfsp1 A C 2: 143,699,975 (GRCm39) probably null Het
Cytl1 T C 5: 37,895,014 (GRCm39) V99A probably benign Het
Dock2 A T 11: 34,453,413 (GRCm39) V793E probably damaging Het
Fxyd5 G T 7: 30,737,305 (GRCm39) T81K probably damaging Het
Gcm1 A G 9: 77,972,151 (GRCm39) Y364C probably damaging Het
Get3 A T 8: 85,745,194 (GRCm39) M291K probably benign Het
Haghl T C 17: 26,002,793 (GRCm39) N190S possibly damaging Het
Inpp5j C A 11: 3,452,293 (GRCm39) R319L possibly damaging Het
Ints10 A G 8: 69,260,188 (GRCm39) N304S probably benign Het
Isoc1 T A 18: 58,804,328 (GRCm39) C119S probably damaging Het
Klhl18 A G 9: 110,257,988 (GRCm39) M414T probably benign Het
Krtap2-4 A G 11: 99,505,585 (GRCm39) probably benign Het
Krtap3-1 G A 11: 99,457,277 (GRCm39) P45S possibly damaging Het
Mroh2a GCCC GC 1: 88,159,979 (GRCm39) probably null Het
Myo7a A G 7: 97,711,887 (GRCm39) V1754A possibly damaging Het
Nedd4l T A 18: 65,288,335 (GRCm39) D119E probably benign Het
Nsun7 T C 5: 66,452,929 (GRCm39) V548A probably benign Het
Or5m12 A T 2: 85,734,883 (GRCm39) S172T probably benign Het
Or6b6 A T 7: 106,571,419 (GRCm39) V44E possibly damaging Het
Parvg A G 15: 84,213,141 (GRCm39) D127G probably damaging Het
Pate13 A T 9: 35,819,921 (GRCm39) N25Y possibly damaging Het
Piezo2 T A 18: 63,174,734 (GRCm39) M2007L possibly damaging Het
Pou2f3 A C 9: 43,051,162 (GRCm39) F175V probably damaging Het
Ptprn2 T C 12: 117,233,209 (GRCm39) I958T probably damaging Het
Pwwp2b T C 7: 138,835,951 (GRCm39) V464A probably benign Het
Pzp A G 6: 128,468,582 (GRCm39) Y982H probably damaging Het
Rad17 T A 13: 100,773,588 (GRCm39) N202I probably benign Het
Rtel1 T A 2: 180,977,733 (GRCm39) D271E possibly damaging Het
Sos2 T C 12: 69,643,549 (GRCm39) S943G probably benign Het
Tdpoz6 A G 3: 93,600,303 (GRCm39) I22T probably damaging Het
Tm9sf2 A G 14: 122,378,619 (GRCm39) H241R probably benign Het
Ttc8 A G 12: 98,930,829 (GRCm39) E291G probably damaging Het
Unc93a2 G T 17: 7,641,842 (GRCm39) T202K probably damaging Het
Wfikkn1 A G 17: 26,097,692 (GRCm39) C211R probably damaging Het
Ylpm1 T A 12: 85,096,576 (GRCm39) D1219E probably damaging Het
Zcchc4 T A 5: 52,976,618 (GRCm39) F471I probably benign Het
Zfp719 C A 7: 43,240,108 (GRCm39) Y565* probably null Het
Other mutations in Zc3hav1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- AACAGCACGGTCTCCAGTAAG -3'
(R):5'- CCTACCTGAGAACTGTAATCATTTC -3'

Sequencing Primer
(F):5'- AGTAAGTACTGGCGTGCGC -3'
(R):5'- TCATACCCAGAAGTCTCCGGTG -3'
Posted On 2018-05-21