Incidental Mutation 'IGL03380:Zc3hav1'
ID 420651
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zc3hav1
Ensembl Gene ENSMUSG00000029826
Gene Name zinc finger CCCH type, antiviral 1
Synonyms 9830115L13Rik, ZAP, 1200014N16Rik, 2900058M19Rik, 9130009D18Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # IGL03380
Quality Score
Status
Chromosome 6
Chromosomal Location 38282221-38331538 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38313493 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 184 (Y184C)
Ref Sequence ENSEMBL: ENSMUSP00000110548 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031850] [ENSMUST00000114898] [ENSMUST00000114900] [ENSMUST00000143702]
AlphaFold Q3UPF5
Predicted Effect probably damaging
Transcript: ENSMUST00000031850
AA Change: Y184C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031850
Gene: ENSMUSG00000029826
AA Change: Y184C

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 damaging
Transcript: ENSMUST00000114898
AA Change: Y184C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110548
Gene: ENSMUSG00000029826
AA Change: Y184C

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 damaging
Transcript: ENSMUST00000114900
AA Change: Y184C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110550
Gene: ENSMUSG00000029826
AA Change: Y184C

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 damaging
Transcript: ENSMUST00000143702
AA Change: Y184C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000144312
Gene: ENSMUSG00000029826
AA Change: Y184C

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
Coding Region Coverage
Validation Efficiency
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,248,574 (GRCm39) N2774D probably benign Het
Aldh1a2 T G 9: 71,162,399 (GRCm39) Y149* probably null Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Arhgap23 A G 11: 97,343,344 (GRCm39) D542G probably damaging Het
Atp8a1 T C 5: 67,889,529 (GRCm39) E582G probably benign Het
C4b A T 17: 34,959,260 (GRCm39) V438D probably benign Het
Caps2 A G 10: 112,036,601 (GRCm39) E345G probably benign Het
Cdk19 C T 10: 40,352,908 (GRCm39) P308L probably benign Het
Drc3 A G 11: 60,268,731 (GRCm39) E307G probably benign Het
Dst G A 1: 34,296,881 (GRCm39) A1041T probably damaging Het
Elp2 T C 18: 24,755,537 (GRCm39) V428A probably benign Het
Eml5 G T 12: 98,840,906 (GRCm39) probably benign Het
Fam120b G A 17: 15,623,396 (GRCm39) probably benign Het
Fpr-rs6 G A 17: 20,403,245 (GRCm39) L39F possibly damaging Het
Fsd1 T C 17: 56,302,456 (GRCm39) I300T probably benign Het
Hsd17b6 T C 10: 127,830,207 (GRCm39) probably null Het
Hspa1a T C 17: 35,189,253 (GRCm39) K550R probably benign Het
Krba1 A G 6: 48,380,387 (GRCm39) H37R possibly damaging Het
Lama2 T C 10: 26,926,261 (GRCm39) D2117G probably damaging Het
Map4k2 T C 19: 6,394,620 (GRCm39) F332S possibly damaging Het
Mindy1 T C 3: 95,198,329 (GRCm39) probably benign Het
Nhsl1 T G 10: 18,399,627 (GRCm39) Y284* probably null Het
Or5b109 T A 19: 13,212,365 (GRCm39) F250L probably benign Het
Pkhd1 T A 1: 20,270,894 (GRCm39) T3220S probably damaging Het
Pramel7 A T 2: 87,321,716 (GRCm39) D106E probably benign Het
Psme3 T C 11: 101,210,852 (GRCm39) probably null Het
Rsph1 T C 17: 31,496,210 (GRCm39) E7G unknown Het
Slc13a2 T C 11: 78,289,908 (GRCm39) T469A probably benign Het
Slc30a9 C T 5: 67,473,054 (GRCm39) T46I probably benign Het
Slc37a4 T G 9: 44,311,320 (GRCm39) S204A probably benign Het
Slc8b1 T C 5: 120,657,800 (GRCm39) F88L probably damaging Het
Smpd3 C T 8: 106,986,291 (GRCm39) V504I probably benign Het
Tbx4 A G 11: 85,805,465 (GRCm39) N418S probably benign Het
Tmem132c A G 5: 127,613,506 (GRCm39) T470A probably benign Het
Tmem207 A T 16: 26,345,407 (GRCm39) C20S probably damaging Het
Usp43 G A 11: 67,766,142 (GRCm39) A761V possibly damaging Het
Vmn1r191 C T 13: 22,363,055 (GRCm39) S233N probably damaging Het
Vmn2r58 T A 7: 41,513,874 (GRCm39) E256D probably benign 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
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
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
Posted On 2016-08-02