Incidental Mutation 'R6261:Zc3hav1'
ID 506693
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 044404-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R6261 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 38282221-38331538 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 38309935 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 296 (Y296N)
Ref Sequence ENSEMBL: ENSMUSP00000110550 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031850] [ENSMUST00000114898] [ENSMUST00000114900] [ENSMUST00000143702]
AlphaFold Q3UPF5
Predicted Effect probably benign
Transcript: ENSMUST00000031850
AA Change: Y296N

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000031850
Gene: ENSMUSG00000029826
AA Change: Y296N

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: Y296N

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000110548
Gene: ENSMUSG00000029826
AA Change: Y296N

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 probably benign
Transcript: ENSMUST00000114900
AA Change: Y296N

PolyPhen 2 Score 0.240 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000110550
Gene: ENSMUSG00000029826
AA Change: Y296N

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 probably benign
Transcript: ENSMUST00000143702
AA Change: Y296N

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000144312
Gene: ENSMUSG00000029826
AA Change: Y296N

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 0.0661 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.7%
Validation Efficiency 100% (65/65)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot8 T C 2: 164,636,979 (GRCm39) D257G probably damaging Het
Adamtsl1 T C 4: 86,255,115 (GRCm39) V736A probably benign Het
Anln A G 9: 22,275,342 (GRCm39) L521S probably damaging Het
Arfgap2 T G 2: 91,100,627 (GRCm39) S311A probably benign Het
Brdt A T 5: 107,496,369 (GRCm39) E160D probably benign Het
Ccdc187 A G 2: 26,166,215 (GRCm39) I738T probably damaging Het
Cd59a G C 2: 103,934,550 (GRCm39) G6A probably damaging Het
Cd5l C T 3: 87,275,915 (GRCm39) P295L probably benign Het
Cdhr17 T C 5: 17,017,183 (GRCm39) noncoding transcript Het
Cnot1 A G 8: 96,468,549 (GRCm39) S1432P probably benign Het
Cnot8 T A 11: 58,004,877 (GRCm39) I192N probably damaging Het
Col4a1 G T 8: 11,257,409 (GRCm39) probably null Het
Cuta A G 17: 27,158,301 (GRCm39) L11P possibly damaging Het
Cyp2c39 G A 19: 39,556,463 (GRCm39) R433H probably damaging Het
Cyp4a12b T A 4: 115,271,740 (GRCm39) Y150* probably null Het
Dcaf15 G A 8: 84,825,734 (GRCm39) A291V probably benign Het
Dcstamp A T 15: 39,618,131 (GRCm39) H180L possibly damaging Het
Egfr A G 11: 16,839,964 (GRCm39) I659M probably benign Het
Fzd8 A G 18: 9,214,598 (GRCm39) E560G possibly damaging Het
Gm5111 A T 6: 48,566,526 (GRCm39) probably benign Het
Gm7945 T C 14: 41,104,780 (GRCm39) T214A unknown Het
Gpi1 T C 7: 33,920,170 (GRCm39) T168A possibly damaging Het
Gys2 T C 6: 142,405,134 (GRCm39) I218V probably benign Het
Gzmf T A 14: 56,443,949 (GRCm39) I74L probably benign Het
Hacl1 G A 14: 31,357,728 (GRCm39) A70V probably damaging Het
Herc2 T A 7: 55,846,820 (GRCm39) L3590* probably null Het
Idh2 GGTCCCAG GG 7: 79,748,077 (GRCm39) probably benign Het
Igfals G T 17: 25,100,339 (GRCm39) V477F possibly damaging Het
Igkv8-28 A T 6: 70,120,874 (GRCm39) V23E probably benign Het
Isg20l2 T A 3: 87,839,395 (GRCm39) V202E probably damaging Het
Jakmip2 A G 18: 43,708,599 (GRCm39) I288T probably benign Het
Kansl3 A G 1: 36,404,686 (GRCm39) V88A probably benign Het
Kcna3 A G 3: 106,945,266 (GRCm39) T510A possibly damaging Het
Map2k5 G T 9: 63,245,380 (GRCm39) L140I probably benign Het
Map3k19 A G 1: 127,750,336 (GRCm39) I1005T possibly damaging Het
Mmp25 G A 17: 23,849,768 (GRCm39) A541V possibly damaging Het
Ms4a14 T A 19: 11,281,384 (GRCm39) E391D probably benign Het
Mtrf1l A G 10: 5,765,550 (GRCm39) probably null Het
Myom1 A G 17: 71,433,132 (GRCm39) N1591S probably damaging Het
Nos1 G A 5: 118,074,635 (GRCm39) V1060M probably benign Het
Nsun5 C T 5: 135,400,385 (GRCm39) T142M probably damaging Het
Odc1 A G 12: 17,600,655 (GRCm39) E430G probably benign Het
Or8g36 C A 9: 39,422,105 (GRCm39) V304F probably benign Het
P2ry12 T C 3: 59,125,328 (GRCm39) I116V probably null Het
Patl1 T A 19: 11,897,695 (GRCm39) V94E probably damaging Het
Plin3 A T 17: 56,588,488 (GRCm39) Y255* probably null Het
Pou6f1 T C 15: 100,477,827 (GRCm39) T439A probably damaging Het
Prdm13 T C 4: 21,678,366 (GRCm39) K708R probably damaging Het
Prr14l A G 5: 32,986,748 (GRCm39) S916P possibly damaging Het
Rab34 T A 11: 78,082,028 (GRCm39) probably null Het
Rps7 A G 12: 28,685,593 (GRCm39) S21P possibly damaging Het
Scn9a A T 2: 66,314,240 (GRCm39) L1815Q probably damaging Het
Sesn3 A G 9: 14,232,459 (GRCm39) Y244C probably benign Het
Slc15a2 A G 16: 36,581,973 (GRCm39) F284L probably benign Het
Slc25a44 C T 3: 88,328,218 (GRCm39) G72D probably damaging Het
Slco6d1 A G 1: 98,427,588 (GRCm39) T640A probably benign Het
Sspo A T 6: 48,439,125 (GRCm39) E1591V possibly damaging Het
Tbata C A 10: 61,011,644 (GRCm39) T60K possibly damaging Het
Tbc1d2 T A 4: 46,637,692 (GRCm39) T185S possibly damaging Het
Tlcd4 T A 3: 121,028,708 (GRCm39) I60F possibly damaging Het
Tmem87a A G 2: 120,234,502 (GRCm39) S14P possibly damaging Het
Tnnt2 C A 1: 135,778,292 (GRCm39) probably null Het
Trex1 A G 9: 108,887,709 (GRCm39) V94A probably benign Het
Ubtfl1 A C 9: 18,320,592 (GRCm39) D40A possibly damaging Het
Zfp521 T A 18: 13,977,684 (GRCm39) N910Y probably damaging Het
Zfp53 A G 17: 21,728,975 (GRCm39) E336G possibly damaging 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
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
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'- AGCAGAGGTTCGACTTGTGG -3'
(R):5'- AACTAACCCGAGCTTGAATTTTCTC -3'

Sequencing Primer
(F):5'- TTCGACTTGTGGACGAATCAGAAC -3'
(R):5'- CCGAGCTTGAATTTTCTCTCTGGG -3'
Posted On 2018-03-15