Incidental Mutation 'IGL00720:Nat8f1'
ID 9746
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nat8f1
Ensembl Gene ENSMUSG00000057103
Gene Name N-acetyltransferase 8 (GCN5-related) family member 1
Synonyms Cml1, 1110002I11Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # IGL00720
Quality Score
Status
Chromosome 6
Chromosomal Location 85887136-85892669 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to G at 85887957 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 1 (M1T)
Ref Sequence ENSEMBL: ENSMUSP00000133475 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067137] [ENSMUST00000089570] [ENSMUST00000113751] [ENSMUST00000113752] [ENSMUST00000113753] [ENSMUST00000149026] [ENSMUST00000161198] [ENSMUST00000174369] [ENSMUST00000202803] [ENSMUST00000200680] [ENSMUST00000201939]
AlphaFold Q9JIZ0
Predicted Effect probably benign
Transcript: ENSMUST00000067137
SMART Domains Protein: ENSMUSP00000063927
Gene: ENSMUSG00000054226

DomainStartEndE-ValueType
Pfam:CGI-121 20 172 1.2e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000089570
SMART Domains Protein: ENSMUSP00000086998
Gene: ENSMUSG00000054226

DomainStartEndE-ValueType
Pfam:CGI-121 20 150 8.6e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113751
SMART Domains Protein: ENSMUSP00000109380
Gene: ENSMUSG00000054226

DomainStartEndE-ValueType
Pfam:CGI-121 20 91 1.2e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113752
SMART Domains Protein: ENSMUSP00000109381
Gene: ENSMUSG00000054226

DomainStartEndE-ValueType
Pfam:CGI-121 20 172 1.3e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113753
SMART Domains Protein: ENSMUSP00000109382
Gene: ENSMUSG00000054226

DomainStartEndE-ValueType
Pfam:CGI-121 20 172 1.2e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149026
SMART Domains Protein: ENSMUSP00000117259
Gene: ENSMUSG00000054226

DomainStartEndE-ValueType
Pfam:CGI-121 20 132 1.4e-36 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000161198
AA Change: M1T

PolyPhen 2 Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000124488
Gene: ENSMUSG00000057103
AA Change: M1T

DomainStartEndE-ValueType
transmembrane domain 53 84 N/A INTRINSIC
Pfam:Acetyltransf_10 85 203 2.1e-10 PFAM
Pfam:Acetyltransf_7 115 205 1e-12 PFAM
Pfam:Acetyltransf_1 122 204 1e-13 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000174369
AA Change: M1T

PolyPhen 2 Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000133475
Gene: ENSMUSG00000057103
AA Change: M1T

DomainStartEndE-ValueType
transmembrane domain 53 84 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201217
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202588
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150249
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202142
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201289
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172982
Predicted Effect probably benign
Transcript: ENSMUST00000202803
SMART Domains Protein: ENSMUSP00000144660
Gene: ENSMUSG00000054226

DomainStartEndE-ValueType
Pfam:CGI-121 20 149 1.6e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000200680
SMART Domains Protein: ENSMUSP00000144160
Gene: ENSMUSG00000054226

DomainStartEndE-ValueType
Pfam:CGI-121 20 172 1.3e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000201939
SMART Domains Protein: ENSMUSP00000144588
Gene: ENSMUSG00000054226

DomainStartEndE-ValueType
Pfam:CGI-121 20 110 9.4e-25 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is highly similar to the N-acetyltransferase 8 (NAT8) gene product, which is a kidney and liver protein with homology to bacterial acetyltransferases involved in drug resistance. This gene is localized on chromosome 2 in the vicinity of the NAT8 gene and may represent a pseudogene of NAT8. This gene contains two polymorphic nonsense mutations that disrupt the active site of the protein. The full-length product of this gene contains a complete acetyltransferase domain and is identical in length to NAT8. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 11 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cul4a A G 8: 13,177,735 (GRCm39) K292E probably benign Het
Fat2 T C 11: 55,202,070 (GRCm39) T335A probably benign Het
Hrh2 T C 13: 54,368,840 (GRCm39) V272A possibly damaging Het
Jak3 A G 8: 72,136,681 (GRCm39) I663V probably damaging Het
Kifc3 A G 8: 95,864,644 (GRCm39) V22A probably damaging Het
Scn7a A T 2: 66,506,388 (GRCm39) S1500R possibly damaging Het
Stambp A T 6: 83,547,419 (GRCm39) S23R probably damaging Het
Tenm3 T C 8: 48,729,456 (GRCm39) N1517D probably damaging Het
Zfp663 A T 2: 165,194,525 (GRCm39) F565I probably damaging Het
Zng1 T C 19: 24,898,495 (GRCm39) D321G probably benign Het
Zscan26 C T 13: 21,629,369 (GRCm39) R378H probably benign Het
Other mutations in Nat8f1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1448:Nat8f1 UTSW 6 85,887,924 (GRCm39) missense probably benign
R4294:Nat8f1 UTSW 6 85,887,637 (GRCm39) missense probably benign 0.13
R4559:Nat8f1 UTSW 6 85,887,567 (GRCm39) missense probably benign 0.01
R4872:Nat8f1 UTSW 6 85,887,295 (GRCm39) missense probably benign
R5551:Nat8f1 UTSW 6 85,887,891 (GRCm39) missense probably damaging 1.00
R8678:Nat8f1 UTSW 6 85,887,738 (GRCm39) missense probably benign 0.27
R8843:Nat8f1 UTSW 6 85,887,907 (GRCm39) missense probably benign 0.00
R8861:Nat8f1 UTSW 6 85,887,444 (GRCm39) missense probably damaging 1.00
R9023:Nat8f1 UTSW 6 85,887,369 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06