Incidental Mutation 'R0034:Nat8f5'
ID15343
Institutional Source Beutler Lab
Gene Symbol Nat8f5
Ensembl Gene ENSMUSG00000079494
Gene NameN-acetyltransferase 8 (GCN5-related) family member 5
Synonyms1810018F03Rik, Cml5
MMRRC Submission 038328-MU
Accession Numbers

Genbank: NM_023493; MGI: 1916299

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0034 (G1)
Quality Score
Status Validated
Chromosome6
Chromosomal Location85817218-85820972 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 85817886 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Serine at position 31 (A31S)
Ref Sequence ENSEMBL: ENSMUSP00000032074 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032074] [ENSMUST00000174143]
Predicted Effect probably benign
Transcript: ENSMUST00000032074
AA Change: A31S

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000032074
Gene: ENSMUSG00000079494
AA Change: A31S

DomainStartEndE-ValueType
transmembrane domain 31 53 N/A INTRINSIC
Pfam:Acetyltransf_10 73 192 2.7e-12 PFAM
Pfam:Acetyltransf_9 79 195 9.1e-10 PFAM
Pfam:Acetyltransf_8 84 201 9.2e-10 PFAM
Pfam:Acetyltransf_4 84 205 9.2e-9 PFAM
Pfam:Acetyltransf_7 104 194 3.1e-11 PFAM
Pfam:Acetyltransf_1 111 193 1.6e-15 PFAM
Pfam:Acetyltransf_CG 121 184 1.6e-11 PFAM
Pfam:FR47 131 201 4.3e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174143
SMART Domains Protein: ENSMUSP00000133846
Gene: ENSMUSG00000079495

DomainStartEndE-ValueType
transmembrane domain 37 56 N/A INTRINSIC
Pfam:Acetyltransf_10 71 193 5.5e-11 PFAM
Pfam:Acetyltransf_4 75 202 1.1e-9 PFAM
Pfam:Acetyltransf_7 105 195 1.2e-10 PFAM
Pfam:Acetyltransf_1 112 194 2.6e-14 PFAM
Meta Mutation Damage Score 0.0908 question?
Coding Region Coverage
  • 1x: 76.6%
  • 3x: 64.3%
  • 10x: 35.1%
  • 20x: 16.8%
Validation Efficiency 87% (59/68)
MGI Phenotype PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit complex congenital heart disease associated with heterotaxy, abdominal organ situs anomalies, omphalocele and gastroschisis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402H24Rik T C 2: 130,736,572 H664R probably damaging Het
Asns G A 6: 7,676,299 P419L probably damaging Het
Cep152 C T 2: 125,583,893 A851T probably benign Het
Chrna7 T G 7: 63,148,606 K109N possibly damaging Het
Farp1 A G 14: 121,255,429 H481R probably benign Het
Kif9 G A 9: 110,519,611 C738Y probably benign Het
Klf12 A G 14: 99,987,429 probably null Het
Ltbp1 T A 17: 75,047,568 probably benign Het
Map2k4 A G 11: 65,719,611 probably benign Het
Plb1 G T 5: 32,273,113 G138V probably benign Het
Plcz1 A T 6: 140,020,448 probably benign Het
Poln A C 5: 34,115,418 V398G possibly damaging Het
Ppp2r2c A G 5: 36,927,539 I115V probably benign Het
Rapgef1 C A 2: 29,724,768 probably benign Het
Rbm43 A T 2: 51,925,710 D166E probably benign Het
Sgk3 T C 1: 9,885,677 V301A probably damaging Het
Trap1 A T 16: 4,069,030 probably benign Het
Trim14 A G 4: 46,523,627 L137P probably damaging Het
Tsku T C 7: 98,352,663 T154A possibly damaging Het
Usp50 T C 2: 126,777,975 E139G possibly damaging Het
Zfp949 A T 9: 88,567,640 probably benign Het
Zscan20 T C 4: 128,585,662 N1012S probably damaging Het
Other mutations in Nat8f5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00824:Nat8f5 APN 6 85817297 missense probably damaging 1.00
IGL01348:Nat8f5 APN 6 85817880 missense probably damaging 0.98
IGL01672:Nat8f5 APN 6 85817952 missense probably damaging 1.00
IGL01769:Nat8f5 APN 6 85817877 missense probably benign 0.01
IGL02009:Nat8f5 APN 6 85817426 missense probably benign 0.01
IGL02493:Nat8f5 APN 6 85817562 missense probably benign 0.01
IGL03346:Nat8f5 APN 6 85817658 missense probably damaging 1.00
IGL03373:Nat8f5 APN 6 85817547 missense probably benign 0.02
E7848:Nat8f5 UTSW 6 85817619 missense probably damaging 0.99
R0670:Nat8f5 UTSW 6 85817975 start codon destroyed probably null 1.00
R1939:Nat8f5 UTSW 6 85817819 missense possibly damaging 0.93
R4514:Nat8f5 UTSW 6 85817423 missense possibly damaging 0.53
R5502:Nat8f5 UTSW 6 85817653 missense probably damaging 1.00
R5770:Nat8f5 UTSW 6 85817675 missense probably damaging 1.00
R8038:Nat8f5 UTSW 6 85817685 missense possibly damaging 0.69
Z1176:Nat8f5 UTSW 6 85817685 missense probably benign 0.43
Posted On2012-12-17