Incidental Mutation 'E7848:Nat8f5'
ID56
Institutional Source Beutler Lab
Gene Symbol Nat8f5
Ensembl Gene ENSMUSG00000079494
Gene NameN-acetyltransferase 8 (GCN5-related) family member 5
Synonyms1810018F03Rik, Cml5
Accession Numbers

Genbank: NM_023493; MGI: 1916299

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #E7848 of strain Klein-zschocher
Quality Score
Status Validated
Chromosome6
Chromosomal Location85817218-85820972 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 85817619 bp
ZygosityHomozygous
Amino Acid Change Threonine to Proline at position 120 (T120P)
Ref Sequence ENSEMBL: ENSMUSP00000032074 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032074] [ENSMUST00000174143]
Predicted Effect probably damaging
Transcript: ENSMUST00000032074
AA Change: T120P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000032074
Gene: ENSMUSG00000079494
AA Change: T120P

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 0.6467 question?
Coding Region Coverage
  • 1x: 86.1%
  • 3x: 63.4%
Validation Efficiency 94% (82/87)
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: 5 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Capn2 T A 1: 182,486,594 D362V possibly damaging Het
Cdsn T C 17: 35,556,107 V511A probably benign Homo
Cyp2j11 T A 4: 96,319,365 I238L probably benign Het
Sybu A T 15: 44,673,422 S375T probably benign Homo
Trappc8 T C 18: 20,850,918 H680R 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
R0034:Nat8f5 UTSW 6 85817886 missense probably benign 0.05
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
Nature of Mutation

DNA sequencing using the SOLiD technique identified an A to T transversion at position 585 of the Cml5 transcript. The mutated nucleotide causes a threonine to proline substitution at amino acid 120. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).

Protein Function and Prediction
The Cml5 gene encodes a probable 227 amino acid N-acetyltransferase with evidence at the transcript level, known as Camello-like protein 5 (CML5).  CML5 contains three transmembrane domains, and a cytoplasmic N-actelytransferase domain at amino acids 69-213. The protein may play a role in gastrulation  (Uniprot Q9QXS8). 
 
The T120P change is predicted to be possibly damaging by the PolyPhen program.
Posted On2009-11-13