Incidental Mutation 'R5551:Nat8f1'
ID 435120
Institutional Source Beutler Lab
Gene Symbol Nat8f1
Ensembl Gene ENSMUSG00000057103
Gene Name N-acetyltransferase 8 (GCN5-related) family member 1
Synonyms Cml1, 1110002I11Rik
MMRRC Submission 043108-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # R5551 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 85887136-85892669 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 85887891 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 23 (D23G)
Ref Sequence ENSEMBL: ENSMUSP00000133475 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067137] [ENSMUST00000089570] [ENSMUST00000113751] [ENSMUST00000113752] [ENSMUST00000113753] [ENSMUST00000149026] [ENSMUST00000174369] [ENSMUST00000161198] [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 damaging
Transcript: ENSMUST00000174369
AA Change: D23G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000133475
Gene: ENSMUSG00000057103
AA Change: D23G

DomainStartEndE-ValueType
transmembrane domain 53 84 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000161198
AA Change: D23G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124488
Gene: ENSMUSG00000057103
AA Change: D23G

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 noncoding transcript
Transcript: ENSMUST00000150249
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172982
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201289
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202588
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201217
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202142
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
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AB041806 G T 4: 138,123,312 (GRCm39) P3T probably damaging Het
Abl1 C T 2: 31,691,682 (GRCm39) A1048V probably benign Het
Acap2 A G 16: 30,923,726 (GRCm39) V659A probably damaging Het
Acox1 A G 11: 116,080,317 (GRCm39) S29P possibly damaging Het
Adamts1 A G 16: 85,594,634 (GRCm39) I405T probably benign Het
Afm A T 5: 90,679,511 (GRCm39) E335V probably null Het
Akap6 C T 12: 52,842,747 (GRCm39) P32S probably damaging Het
Alk T C 17: 72,182,028 (GRCm39) M1332V possibly damaging Het
Ankrd39 C T 1: 36,581,062 (GRCm39) G96R probably damaging Het
Atp2c1 C A 9: 105,336,936 (GRCm39) A16S probably damaging Het
Ccdc141 T C 2: 76,844,753 (GRCm39) E1438G probably damaging Het
Csmd2 T C 4: 128,404,741 (GRCm39) Y2376H possibly damaging Het
Csmd3 T C 15: 48,177,492 (GRCm39) T349A probably benign Het
Ctsr A T 13: 61,307,357 (GRCm39) M313K probably damaging Het
Dot1l CCAGCCCCACCCTCAGCC CCAGCC 10: 80,619,462 (GRCm39) probably benign Het
Dync2h1 A G 9: 7,031,718 (GRCm39) S3516P possibly damaging Het
Ehd4 A G 2: 119,958,100 (GRCm39) S162P possibly damaging Het
Ets2 T C 16: 95,513,165 (GRCm39) W114R probably damaging Het
Fignl1 A T 11: 11,751,603 (GRCm39) V484E probably damaging Het
Golph3 C A 15: 12,321,922 (GRCm39) S35R probably benign Het
Gzf1 T C 2: 148,526,248 (GRCm39) Y240H probably damaging Het
Hook3 A G 8: 26,558,639 (GRCm39) F75S possibly damaging Het
Ifi209 T A 1: 173,468,763 (GRCm39) S198T probably benign Het
Iqch A T 9: 63,403,535 (GRCm39) probably null Het
Katnip T C 7: 125,419,249 (GRCm39) F472S probably damaging Het
Lrrk2 C T 15: 91,696,553 (GRCm39) T2447I probably benign Het
Mesp2 T C 7: 79,461,367 (GRCm39) S231P probably benign Het
Muc5b T C 7: 141,422,240 (GRCm39) C4459R possibly damaging Het
Myh10 A G 11: 68,659,113 (GRCm39) E497G possibly damaging Het
Nalcn A T 14: 123,515,698 (GRCm39) V1701E possibly damaging Het
Nfia G A 4: 97,902,497 (GRCm39) E250K probably damaging Het
Nup155 A G 15: 8,177,817 (GRCm39) M1067V probably benign Het
Or4k36 T C 2: 111,145,916 (GRCm39) F31L possibly damaging Het
Pde4d T A 13: 110,084,930 (GRCm39) probably null Het
Rtn4 G A 11: 29,691,011 (GRCm39) V1101I probably damaging Het
Sema4c A G 1: 36,591,398 (GRCm39) Y348H probably damaging Het
Sema6a A G 18: 47,381,595 (GRCm39) V958A possibly damaging Het
Sez6l2 A G 7: 126,566,002 (GRCm39) Y677C probably damaging Het
Smad5 T C 13: 56,883,654 (GRCm39) C347R probably damaging Het
Smim19 A G 8: 22,953,383 (GRCm39) Y95H probably benign Het
Srrm2 C A 17: 24,037,450 (GRCm39) probably benign Het
Ssb A G 2: 69,701,474 (GRCm39) K390E probably damaging Het
Tars1 G A 15: 11,392,068 (GRCm39) T248M probably damaging Het
Tcirg1 A T 19: 3,948,858 (GRCm39) F442L probably damaging Het
Tex55 A G 16: 38,648,336 (GRCm39) Y258H probably benign Het
Tlk2 A G 11: 105,112,133 (GRCm39) E162G probably benign Het
Tmc6 A G 11: 117,660,271 (GRCm39) C656R probably damaging Het
Ttn G T 2: 76,719,406 (GRCm39) probably benign Het
Uqcrc2 C T 7: 120,244,461 (GRCm39) T201I probably damaging Het
Zfp282 G T 6: 47,867,579 (GRCm39) A252S possibly damaging Het
Zfp473 G C 7: 44,383,575 (GRCm39) P253A probably benign Het
Zfp541 A G 7: 15,824,786 (GRCm39) N1068D probably damaging Het
Zfp946 A G 17: 22,674,365 (GRCm39) Q373R probably damaging Het
Zmat2 G A 18: 36,927,010 (GRCm39) G6R probably benign Het
Other mutations in Nat8f1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00720:Nat8f1 APN 6 85,887,957 (GRCm39) start codon destroyed probably null 0.26
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
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
Predicted Primers PCR Primer
(F):5'- ATTCCTTCCAGGGCTGTCTG -3'
(R):5'- TTTGGACAGGACCTACATGGG -3'

Sequencing Primer
(F):5'- GCTGTCTGGCAAGGAGC -3'
(R):5'- ACCTACATGGGTCCTGGGAG -3'
Posted On 2016-10-24