Incidental Mutation 'E7848:Nat8f5'
ID 56
Institutional Source Beutler Lab
Gene Symbol Nat8f5
Ensembl Gene ENSMUSG00000079494
Gene Name N-acetyltransferase 8 (GCN5-related) family member 5
Synonyms 1810018F03Rik, Cml5
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # E7848 of strain Klein-zschocher
Quality Score
Status Validated
Chromosome 6
Chromosomal Location 85794200-85797954 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 85794601 bp (GRCm39)
Zygosity Homozygous
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]
AlphaFold Q9QXS8
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: 182,314,159 (GRCm39) D362V possibly damaging Het
Cdsn T C 17: 35,867,004 (GRCm39) V511A probably benign Homo
Cyp2j11 T A 4: 96,207,602 (GRCm39) I238L probably benign Het
Sybu A T 15: 44,536,818 (GRCm39) S375T probably benign Homo
Trappc8 T C 18: 20,983,975 (GRCm39) H680R probably damaging Het
Other mutations in Nat8f5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00824:Nat8f5 APN 6 85,794,279 (GRCm39) missense probably damaging 1.00
IGL01348:Nat8f5 APN 6 85,794,862 (GRCm39) missense probably damaging 0.98
IGL01672:Nat8f5 APN 6 85,794,934 (GRCm39) missense probably damaging 1.00
IGL01769:Nat8f5 APN 6 85,794,859 (GRCm39) missense probably benign 0.01
IGL02009:Nat8f5 APN 6 85,794,408 (GRCm39) missense probably benign 0.01
IGL02493:Nat8f5 APN 6 85,794,544 (GRCm39) missense probably benign 0.01
IGL03346:Nat8f5 APN 6 85,794,640 (GRCm39) missense probably damaging 1.00
IGL03373:Nat8f5 APN 6 85,794,529 (GRCm39) missense probably benign 0.02
R0034:Nat8f5 UTSW 6 85,794,868 (GRCm39) missense probably benign 0.05
R0670:Nat8f5 UTSW 6 85,794,957 (GRCm39) start codon destroyed probably null 1.00
R1939:Nat8f5 UTSW 6 85,794,801 (GRCm39) missense possibly damaging 0.93
R4514:Nat8f5 UTSW 6 85,794,405 (GRCm39) missense possibly damaging 0.53
R5502:Nat8f5 UTSW 6 85,794,635 (GRCm39) missense probably damaging 1.00
R5770:Nat8f5 UTSW 6 85,794,657 (GRCm39) missense probably damaging 1.00
R8038:Nat8f5 UTSW 6 85,794,667 (GRCm39) missense possibly damaging 0.69
Z1176:Nat8f5 UTSW 6 85,794,667 (GRCm39) 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 On 2009-11-13