Incidental Mutation 'R5770:Nat8f5'
ID 446484
Institutional Source Beutler Lab
Gene Symbol Nat8f5
Ensembl Gene ENSMUSG00000079494
Gene Name N-acetyltransferase 8 (GCN5-related) family member 5
Synonyms 1810018F03Rik, Cml5
MMRRC Submission 043370-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5770 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 85794200-85797954 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 85794657 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 101 (Y101C)
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: Y101C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032074
Gene: ENSMUSG00000079494
AA Change: Y101C

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 0.8960 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 93% (64/69)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030C10Rik T C 12: 20,865,460 (GRCm39) noncoding transcript Het
Abhd8 A G 8: 71,909,972 (GRCm39) V392A probably benign Het
Alpk3 A G 7: 80,728,310 (GRCm39) E480G probably benign Het
Ankfy1 C G 11: 72,651,082 (GRCm39) H1011D probably damaging Het
Aoc3 T G 11: 101,222,578 (GRCm39) Y271* probably null Het
Bcl9 T C 3: 97,122,491 (GRCm39) I103V probably benign Het
Cgnl1 C T 9: 71,552,769 (GRCm39) probably null Het
Cyp2c23 T A 19: 44,010,018 (GRCm39) D109V probably damaging Het
Cyp2j13 A T 4: 95,965,669 (GRCm39) W13R probably benign Het
D630003M21Rik T C 2: 158,037,500 (GRCm39) probably benign Het
Desi2 A T 1: 178,084,061 (GRCm39) probably benign Het
Dll3 T C 7: 27,998,434 (GRCm39) E177G possibly damaging Het
Ern2 C T 7: 121,779,130 (GRCm39) G238D possibly damaging Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gm6133 A G 18: 78,393,464 (GRCm39) K153E probably benign Het
Gpr68 A T 12: 100,845,080 (GRCm39) Y155N probably benign Het
Hcrtr2 T A 9: 76,166,948 (GRCm39) I130F probably damaging Het
Hk1 T C 10: 62,122,228 (GRCm39) K489R probably benign Het
Ints13 T C 6: 146,456,571 (GRCm39) N425S probably damaging Het
Itpkc T C 7: 26,912,413 (GRCm39) D578G probably damaging Het
Kcns3 A G 12: 11,142,250 (GRCm39) S150P probably benign Het
Khdrbs3 T A 15: 68,921,312 (GRCm39) probably null Het
Kif11 A G 19: 37,379,313 (GRCm39) I335V probably benign Het
Lrrn4 C G 2: 132,714,076 (GRCm39) C290S probably damaging Het
Macrod2 T C 2: 141,074,102 (GRCm39) probably benign Het
Mgam A G 6: 40,646,738 (GRCm39) N688S probably benign Het
Myh8 G A 11: 67,188,026 (GRCm39) E933K probably damaging Het
Nhlrc1 A G 13: 47,168,188 (GRCm39) V23A probably benign Het
Nkx2-3 T A 19: 43,602,972 (GRCm39) F193I probably damaging Het
Nlrp4b T A 7: 10,449,414 (GRCm39) V172E probably benign Het
Nmrk1 G T 19: 18,622,438 (GRCm39) R172S probably benign Het
Nudcd3 T C 11: 6,063,286 (GRCm39) D201G probably damaging Het
Oprm1 G A 10: 6,739,026 (GRCm39) G51D probably damaging Het
Or10g9b C T 9: 39,917,634 (GRCm39) V204I probably benign Het
Or13a18 A G 7: 140,190,856 (GRCm39) Y259C probably damaging Het
Or2t44 G A 11: 58,677,420 (GRCm39) R120H probably benign Het
Or2y14 A G 11: 49,405,419 (GRCm39) E318G unknown Het
Or4c12b T A 2: 89,646,893 (GRCm39) D68E probably damaging Het
Or56a3 A T 7: 104,740,102 (GRCm39) I248N probably damaging Het
Or5ac23 A T 16: 59,149,514 (GRCm39) Y119* probably null Het
Pcdh15 T A 10: 74,021,177 (GRCm39) Y130* probably null Het
Pcdh9 G A 14: 94,124,379 (GRCm39) T597I probably damaging Het
Pcdhb19 A G 18: 37,631,090 (GRCm39) N295S possibly damaging Het
Pcnx3 T C 19: 5,731,607 (GRCm39) probably benign Het
Pdzph1 A T 17: 59,186,146 (GRCm39) I1215N probably damaging Het
Phf21a C T 2: 92,182,199 (GRCm39) T405I possibly damaging Het
Pkd1l2 C A 8: 117,781,757 (GRCm39) G763W probably damaging Het
Prox2 A G 12: 85,134,154 (GRCm39) F591L probably benign Het
Robo3 T A 9: 37,330,497 (GRCm39) H1033L possibly damaging Het
Sdha A T 13: 74,471,239 (GRCm39) C222* probably null Het
Sec16a T C 2: 26,304,402 (GRCm39) D2303G probably damaging Het
Shoc1 T C 4: 59,092,466 (GRCm39) I238M probably benign Het
Slc16a5 A G 11: 115,363,604 (GRCm39) K422E possibly damaging Het
Slc22a30 A T 19: 8,363,891 (GRCm39) M232K probably damaging Het
Slc35b3 A T 13: 39,121,734 (GRCm39) F300I probably damaging Het
Spata2l A G 8: 123,962,459 (GRCm39) V34A probably damaging Het
Susd2 C T 10: 75,473,853 (GRCm39) A581T probably damaging Het
Tecta T A 9: 42,256,885 (GRCm39) Q1597L possibly damaging Het
Tgfb1i1 A T 7: 127,847,719 (GRCm39) probably benign Het
Ticam1 TCACACA TCACA 17: 56,577,629 (GRCm39) probably null Het
Tpm3-rs7 A G 14: 113,552,807 (GRCm39) T234A probably benign Het
Usp20 A G 2: 30,907,520 (GRCm39) Y684C probably damaging Het
Zc3h4 T A 7: 16,163,536 (GRCm39) M585K unknown Het
Zfp292 A G 4: 34,806,747 (GRCm39) I2099T 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
E7848:Nat8f5 UTSW 6 85,794,601 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- GACAGTTCTGACCAGTGCTTTTG -3'
(R):5'- CTTGTTCTCCAGGGGCATGATG -3'

Sequencing Primer
(F):5'- GCTATCCCCTGTCCTCGATGTTG -3'
(R):5'- TCCGCTACACGCTGCTG -3'
Posted On 2016-11-21