Incidental Mutation 'R3718:Zc3hav1l'
ID 258791
Institutional Source Beutler Lab
Gene Symbol Zc3hav1l
Ensembl Gene ENSMUSG00000047749
Gene Name zinc finger CCCH-type, antiviral 1-like
Synonyms B130055L09Rik, E430016P22Rik
MMRRC Submission 040710-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3718 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 38264331-38276194 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 38272060 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 236 (S236R)
Ref Sequence ENSEMBL: ENSMUSP00000062475 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058524]
AlphaFold Q8BFR1
Predicted Effect probably damaging
Transcript: ENSMUST00000058524
AA Change: S236R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000062475
Gene: ENSMUSG00000047749
AA Change: S236R

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 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency 97% (36/37)
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abra T C 15: 41,729,689 (GRCm39) D237G probably benign Het
Alas2 T C X: 149,343,726 (GRCm39) probably benign Het
Ano6 A G 15: 95,811,260 (GRCm39) D120G probably damaging Het
Aspm T C 1: 139,408,627 (GRCm39) Y2505H probably benign Het
Aspm G A 1: 139,418,165 (GRCm39) V2965I probably benign Het
Ccna2 A T 3: 36,620,387 (GRCm39) V285E probably benign Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dnajc10 A G 2: 80,155,089 (GRCm39) probably benign Het
Dpp3 A G 19: 4,973,093 (GRCm39) probably null Het
Gng11 G A 6: 4,008,078 (GRCm39) R47H probably benign Het
Hivep1 C T 13: 42,311,971 (GRCm39) H1404Y probably damaging Het
Il18r1 A G 1: 40,534,948 (GRCm39) E381G probably benign Het
Il9 G A 13: 56,627,264 (GRCm39) T116I probably damaging Het
Kcnh1 A G 1: 191,921,107 (GRCm39) T129A probably damaging Het
Mroh7 T C 4: 106,561,407 (GRCm39) E612G probably benign Het
Nav1 A T 1: 135,378,368 (GRCm39) I1653K probably damaging Het
Neb T C 2: 52,167,482 (GRCm39) E1948G probably damaging Het
Ntsr1 T C 2: 180,184,499 (GRCm39) F401L probably benign Het
Nup210 A T 6: 90,997,162 (GRCm39) D1626E probably benign Het
Or10q12 A G 19: 13,746,428 (GRCm39) R241G probably damaging Het
Or4k35 A G 2: 111,100,571 (GRCm39) V47A probably benign Het
Or8g26 A G 9: 39,096,361 (GRCm39) R293G probably damaging Het
Pign A G 1: 105,577,006 (GRCm39) probably null Het
Rad54l2 A G 9: 106,570,726 (GRCm39) V1198A probably benign Het
Sh3tc2 T C 18: 62,123,414 (GRCm39) V725A probably benign Het
Skint10 A T 4: 112,603,936 (GRCm39) W84R probably damaging Het
Slc40a1 G T 1: 45,950,151 (GRCm39) H434N probably benign Het
Trdv2-1 T C 14: 54,183,995 (GRCm39) Y76H probably benign Het
Trim43c T C 9: 88,727,030 (GRCm39) S286P probably benign Het
Ttn G A 2: 76,575,558 (GRCm39) P25112S probably damaging Het
Ubac1 C T 2: 25,904,953 (GRCm39) R95H probably damaging Het
Vps13d A G 4: 144,802,296 (GRCm39) I405T probably damaging Het
Other mutations in Zc3hav1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0070:Zc3hav1l UTSW 6 38,272,125 (GRCm39) missense probably damaging 1.00
R0070:Zc3hav1l UTSW 6 38,272,125 (GRCm39) missense probably damaging 1.00
R1833:Zc3hav1l UTSW 6 38,274,881 (GRCm39) splice site probably benign
R6034:Zc3hav1l UTSW 6 38,272,215 (GRCm39) missense probably damaging 1.00
R6034:Zc3hav1l UTSW 6 38,272,215 (GRCm39) missense probably damaging 1.00
R6101:Zc3hav1l UTSW 6 38,270,012 (GRCm39) missense probably benign
R6105:Zc3hav1l UTSW 6 38,270,012 (GRCm39) missense probably benign
R7315:Zc3hav1l UTSW 6 38,272,082 (GRCm39) missense possibly damaging 0.94
R7352:Zc3hav1l UTSW 6 38,275,916 (GRCm39) missense probably benign 0.03
R8021:Zc3hav1l UTSW 6 38,274,882 (GRCm39) splice site probably benign
R8519:Zc3hav1l UTSW 6 38,272,176 (GRCm39) missense probably damaging 1.00
R9691:Zc3hav1l UTSW 6 38,276,112 (GRCm39) missense probably benign 0.00
R9787:Zc3hav1l UTSW 6 38,272,101 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GGCTGACTTCCATTCACTGC -3'
(R):5'- CGATGTCCTTTATGGCTACTGC -3'

Sequencing Primer
(F):5'- TGTGTTAAAACAGCGGCTCC -3'
(R):5'- CTACTGCAGCCTCAAGGATAGATG -3'
Posted On 2015-01-23