Incidental Mutation 'IGL02725:Zc3hav1'
ID305151
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zc3hav1
Ensembl Gene ENSMUSG00000029826
Gene Namezinc finger CCCH type, antiviral 1
Synonyms9130009D18Rik, 2900058M19Rik, ZAP, 1200014N16Rik, 9830115L13Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.084) question?
Stock #IGL02725
Quality Score
Status
Chromosome6
Chromosomal Location38305286-38354603 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 38332192 bp
ZygosityHeterozygous
Amino Acid Change Proline to Glutamine at position 565 (P565Q)
Ref Sequence ENSEMBL: ENSMUSP00000144312 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031850] [ENSMUST00000114898] [ENSMUST00000114900] [ENSMUST00000143702]
Predicted Effect probably damaging
Transcript: ENSMUST00000031850
AA Change: P565Q

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000031850
Gene: ENSMUSG00000029826
AA Change: P565Q

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
SMART Domains Protein: ENSMUSP00000110548
Gene: ENSMUSG00000029826

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: P565Q

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000110550
Gene: ENSMUSG00000029826
AA Change: P565Q

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: P565Q

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000144312
Gene: ENSMUSG00000029826
AA Change: P565Q

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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T C 13: 119,474,909 I414T possibly damaging Het
Agpat3 A C 10: 78,278,055 D266E probably benign Het
Alpk3 G T 7: 81,093,610 Q1058H possibly damaging Het
Atat1 A T 17: 35,909,489 V37E probably benign Het
Bcl6b A G 11: 70,228,518 V124A probably damaging Het
Bmt2 T C 6: 13,628,496 E396G probably damaging Het
Ccdc50 T C 16: 27,436,597 C237R probably benign Het
Chd9 A G 8: 91,051,684 I2790M possibly damaging Het
Chkb A G 15: 89,429,137 L82P probably damaging Het
Cit T C 5: 115,985,473 Y1458H probably benign Het
Clp1 T A 2: 84,723,864 K320N probably benign Het
Cry2 T C 2: 92,413,260 probably benign Het
Cyp20a1 C T 1: 60,366,706 R220W probably benign Het
Cyp27a1 C T 1: 74,735,703 P268S probably damaging Het
Cyp2e1 T G 7: 140,763,915 I22S probably null Het
Defb34 A G 8: 19,123,758 T3A unknown Het
Dpy19l3 A T 7: 35,711,918 M422K probably benign Het
Eif4g3 A T 4: 138,170,471 probably benign Het
Elmod3 A G 6: 72,594,775 S7P probably damaging Het
Fam151a T G 4: 106,748,014 S524R probably damaging Het
Gcc1 A T 6: 28,418,459 V625E probably benign Het
Glmn G A 5: 107,575,289 P112S possibly damaging Het
Grm5 A C 7: 88,074,665 D721A probably damaging Het
Hivep3 T C 4: 120,095,822 V445A possibly damaging Het
Hmcn1 T A 1: 150,604,903 E4507D possibly damaging Het
Hmcn2 A C 2: 31,405,528 E2583A probably damaging Het
Ifnb1 T A 4: 88,522,630 I49F probably benign Het
Ints8 A C 4: 11,239,406 C306W probably benign Het
Jakmip2 A G 18: 43,562,590 S540P probably damaging Het
Kctd1 A G 18: 14,969,610 V838A possibly damaging Het
Klk10 T C 7: 43,781,620 L29P probably damaging Het
Lyst T A 13: 13,760,827 I3627K probably damaging Het
Maml3 A G 3: 52,103,774 S124P probably damaging Het
Nav2 A T 7: 49,565,095 K1632I probably damaging Het
Olfr324 T C 11: 58,597,864 V156A probably benign Het
Pde2a G T 7: 101,507,218 M616I probably null Het
Pdia2 T C 17: 26,196,532 D440G probably benign Het
Rab11fip5 A G 6: 85,374,489 S14P probably damaging Het
Rhpn2 T C 7: 35,379,606 S383P probably damaging Het
Rnf220 A G 4: 117,272,379 probably benign Het
Rnf43 A G 11: 87,731,585 D504G probably damaging Het
Setbp1 A T 18: 78,857,374 L1026* probably null Het
Slc1a4 A T 11: 20,308,408 S264T probably damaging Het
Snx19 A G 9: 30,432,260 N572S possibly damaging Het
Sptan1 T C 2: 29,996,043 I739T probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Stat5b A T 11: 100,805,014 D47E possibly damaging Het
Taar7b A T 10: 24,000,063 Y42F probably benign Het
Tfdp2 T A 9: 96,287,695 I33K possibly damaging Het
Tm4sf5 A G 11: 70,510,622 H149R probably benign Het
Tmco6 A G 18: 36,738,707 M257V probably benign Het
Tuba8 G T 6: 121,225,957 G410* probably null Het
Ubd T A 17: 37,193,962 V4D probably benign Het
Ugt2b34 C T 5: 86,906,425 V166I probably benign Het
Vmn2r70 C T 7: 85,565,345 V200I possibly damaging Het
Wdcp A T 12: 4,851,206 N354I probably damaging Het
Wipi2 A T 5: 142,666,863 Y410F possibly damaging Het
Zfp398 T C 6: 47,865,803 V131A probably benign Het
Zkscan3 T C 13: 21,394,893 D144G possibly damaging Het
Zpbp T A 11: 11,462,358 probably benign Het
Other mutations in Zc3hav1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01934:Zc3hav1 APN 6 38319833 splice site probably null
IGL02225:Zc3hav1 APN 6 38340341 missense probably damaging 1.00
IGL02266:Zc3hav1 APN 6 38332168 missense probably benign 0.01
IGL02458:Zc3hav1 APN 6 38340329 missense probably damaging 1.00
IGL02626:Zc3hav1 APN 6 38332991 missense probably damaging 0.96
IGL02958:Zc3hav1 APN 6 38332984 missense probably damaging 1.00
IGL03104:Zc3hav1 APN 6 38340343 missense probably damaging 1.00
IGL03137:Zc3hav1 APN 6 38332394 missense probably benign
IGL03238:Zc3hav1 APN 6 38332750 missense probably damaging 0.99
IGL03380:Zc3hav1 APN 6 38336558 missense probably damaging 1.00
IGL03055:Zc3hav1 UTSW 6 38316316 splice site probably null
P0038:Zc3hav1 UTSW 6 38332534 missense probably damaging 0.98
R0006:Zc3hav1 UTSW 6 38319702 critical splice donor site probably null
R0207:Zc3hav1 UTSW 6 38311174 missense probably benign 0.00
R0255:Zc3hav1 UTSW 6 38336550 missense probably damaging 1.00
R0452:Zc3hav1 UTSW 6 38307437 missense probably benign 0.01
R0505:Zc3hav1 UTSW 6 38332664 missense probably damaging 1.00
R0865:Zc3hav1 UTSW 6 38353902 splice site probably benign
R1281:Zc3hav1 UTSW 6 38353937 missense probably damaging 1.00
R1531:Zc3hav1 UTSW 6 38307235 missense possibly damaging 0.91
R1873:Zc3hav1 UTSW 6 38332757 missense possibly damaging 0.50
R1991:Zc3hav1 UTSW 6 38336517 missense probably damaging 1.00
R2149:Zc3hav1 UTSW 6 38336537 missense probably damaging 1.00
R2184:Zc3hav1 UTSW 6 38307408 missense probably damaging 0.99
R2365:Zc3hav1 UTSW 6 38340233 missense probably damaging 1.00
R2924:Zc3hav1 UTSW 6 38354110 missense probably damaging 0.97
R3237:Zc3hav1 UTSW 6 38319715 missense probably damaging 1.00
R3710:Zc3hav1 UTSW 6 38332162 missense probably benign 0.35
R5683:Zc3hav1 UTSW 6 38307237 missense probably damaging 1.00
R5684:Zc3hav1 UTSW 6 38311279 missense probably benign 0.01
R5905:Zc3hav1 UTSW 6 38307340 missense probably benign 0.03
R5959:Zc3hav1 UTSW 6 38307444 missense probably benign 0.01
R6028:Zc3hav1 UTSW 6 38307340 missense probably benign 0.03
R6261:Zc3hav1 UTSW 6 38333000 missense probably benign 0.24
R6465:Zc3hav1 UTSW 6 38331849 missense possibly damaging 0.85
R6682:Zc3hav1 UTSW 6 38325195 missense probably benign 0.02
R6831:Zc3hav1 UTSW 6 38332168 missense probably benign 0.01
R7082:Zc3hav1 UTSW 6 38332393 nonsense probably null
R7196:Zc3hav1 UTSW 6 38329272 missense probably benign
R7248:Zc3hav1 UTSW 6 38353976 missense probably benign 0.04
R7319:Zc3hav1 UTSW 6 38332274 missense probably benign
R7506:Zc3hav1 UTSW 6 38332940 nonsense probably null
R7593:Zc3hav1 UTSW 6 38329186 missense probably benign 0.01
R7788:Zc3hav1 UTSW 6 38332756 missense probably benign 0.02
R7885:Zc3hav1 UTSW 6 38336663 missense possibly damaging 0.82
R7892:Zc3hav1 UTSW 6 38329221 missense probably benign 0.25
R8109:Zc3hav1 UTSW 6 38329179 missense probably damaging 1.00
Posted On2015-04-16