Incidental Mutation 'R0070:Zc3hav1l'
ID17085
Institutional Source Beutler Lab
Gene Symbol Zc3hav1l
Ensembl Gene ENSMUSG00000047749
Gene Namezinc finger CCCH-type, antiviral 1-like
SynonymsE430016P22Rik, B130055L09Rik
MMRRC Submission 038361-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0070 (G1)
Quality Score
Status Validated
Chromosome6
Chromosomal Location38287396-38299259 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 38295190 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 215 (S215T)
Ref Sequence ENSEMBL: ENSMUSP00000062475 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058524]
Predicted Effect probably damaging
Transcript: ENSMUST00000058524
AA Change: S215T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000062475
Gene: ENSMUSG00000047749
AA Change: S215T

DomainStartEndE-ValueType
low complexity region 63 81 N/A INTRINSIC
internal_repeat_1 106 133 4.92e-5 PROSPERO
internal_repeat_1 193 220 4.92e-5 PROSPERO
Meta Mutation Damage Score 0.2001 question?
Coding Region Coverage
  • 1x: 88.0%
  • 3x: 83.9%
  • 10x: 69.3%
  • 20x: 41.9%
Validation Efficiency 88% (67/76)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre4 T C 17: 55,802,154 I387T probably damaging Het
Ankfn1 A T 11: 89,392,302 L173Q probably damaging Het
Atp2a1 T C 7: 126,447,452 E892G probably benign Het
AU018091 T C 7: 3,158,898 probably null Het
Capn12 T C 7: 28,889,126 probably benign Het
Capn2 C A 1: 182,473,869 probably benign Het
Cd79b A G 11: 106,311,918 probably benign Het
Cdh7 C T 1: 110,098,372 A446V probably benign Het
Ciapin1 T C 8: 94,825,219 N246S possibly damaging Het
Fam126a T C 5: 23,964,999 S451G probably damaging Het
Flt3 A G 5: 147,372,726 probably benign Het
Gm2027 T A 12: 44,222,362 probably benign Het
Hipk2 G A 6: 38,818,984 R117* probably null Het
Hykk T A 9: 54,922,348 probably benign Het
Kansl1l T C 1: 66,801,103 D346G probably damaging Het
Kcnt1 T C 2: 25,892,362 V191A probably benign Het
Lcorl G A 5: 45,733,701 R437C probably damaging Het
Mtch1 T A 17: 29,340,059 probably benign Het
Myo1c A G 11: 75,660,250 N217S probably benign Het
Nav2 A G 7: 49,570,714 E1669G probably damaging Het
Olfr132 A G 17: 38,130,889 L101P probably damaging Het
Olfr1362 T C 13: 21,611,261 K236R possibly damaging Het
Olfr470 T G 7: 107,844,917 D272A probably damaging Het
Phf20l1 T G 15: 66,639,991 W940G probably damaging Het
Pi4k2b A C 5: 52,756,918 D309A probably damaging Het
Pkd2 T C 5: 104,466,990 C233R probably damaging Het
Prkd3 A G 17: 78,954,510 Y792H probably damaging Het
Pxdn T C 12: 29,982,727 L146S probably damaging Het
Serpinh1 A T 7: 99,349,314 S36R probably damaging Het
Setx A T 2: 29,161,525 T2030S probably benign Het
Sin3b T A 8: 72,725,582 H105Q probably damaging Het
Slx4 A T 16: 3,988,016 D557E possibly damaging Het
Stag1 C T 9: 100,956,408 P1238S probably null Het
Stra6 C T 9: 58,152,615 probably benign Het
Taok1 T A 11: 77,553,717 M511L probably benign Het
Tmem127 T C 2: 127,257,059 V171A probably damaging Het
Tmem147 T C 7: 30,728,101 Y97C probably damaging Het
Tmem150a A G 6: 72,358,759 probably null Het
Top2a C G 11: 99,015,060 probably null Het
Zscan20 C T 4: 128,585,882 V939I possibly damaging Het
Other mutations in Zc3hav1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0070:Zc3hav1l UTSW 6 38295190 missense probably damaging 1.00
R1833:Zc3hav1l UTSW 6 38297946 splice site probably benign
R3718:Zc3hav1l UTSW 6 38295125 missense probably damaging 1.00
R6034:Zc3hav1l UTSW 6 38295280 missense probably damaging 1.00
R6034:Zc3hav1l UTSW 6 38295280 missense probably damaging 1.00
R6101:Zc3hav1l UTSW 6 38293077 missense probably benign
R6105:Zc3hav1l UTSW 6 38293077 missense probably benign
R7315:Zc3hav1l UTSW 6 38295147 missense possibly damaging 0.94
R7352:Zc3hav1l UTSW 6 38298981 missense probably benign 0.03
Posted On2013-01-20