Incidental Mutation 'R5484:Nat8f2'
ID 430307
Institutional Source Beutler Lab
Gene Symbol Nat8f2
Ensembl Gene ENSMUSG00000033634
Gene Name N-acetyltransferase 8 (GCN5-related) family member 2
Synonyms Cml2
MMRRC Submission 043045-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5484 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 85842404-85846119 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 85844994 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 123 (A123S)
Ref Sequence ENSEMBL: ENSMUSP00000044587 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045008]
AlphaFold Q8CHQ9
Predicted Effect possibly damaging
Transcript: ENSMUST00000045008
AA Change: A123S

PolyPhen 2 Score 0.758 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000044587
Gene: ENSMUSG00000033634
AA Change: A123S

DomainStartEndE-ValueType
transmembrane domain 37 56 N/A INTRINSIC
Pfam:Acetyltransf_10 77 192 4.9e-14 PFAM
Pfam:Acetyltransf_9 79 195 1.1e-9 PFAM
Pfam:Acetyltransf_4 84 205 1.1e-9 PFAM
Pfam:Acetyltransf_8 86 205 6.9e-12 PFAM
Pfam:Acetyltransf_7 104 194 2e-14 PFAM
Pfam:Acetyltransf_1 111 193 1e-17 PFAM
Pfam:FR47 130 200 5.1e-8 PFAM
Meta Mutation Damage Score 0.2480 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.3%
  • 20x: 91.4%
Validation Efficiency 97% (76/78)
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T C 2: 151,313,851 (GRCm39) H609R probably benign Het
Abca6 A T 11: 110,074,899 (GRCm39) V1388E probably damaging Het
Alx1 T A 10: 102,861,177 (GRCm39) D117V probably damaging Het
Ascl4 T C 10: 85,764,401 (GRCm39) L16P probably damaging Het
Atp4a G A 7: 30,420,097 (GRCm39) probably benign Het
Btnl10 G A 11: 58,814,651 (GRCm39) V444M probably damaging Het
Camkv A T 9: 107,823,345 (GRCm39) N124Y probably damaging Het
Catsperb T C 12: 101,542,175 (GRCm39) L625P probably benign Het
Ccdc171 A G 4: 83,612,199 (GRCm39) I973V probably benign Het
Celsr1 T C 15: 85,815,483 (GRCm39) D1844G probably benign Het
Chd7 G C 4: 8,828,258 (GRCm39) K1066N probably damaging Het
Cmklr1 C G 5: 113,752,990 (GRCm39) D4H possibly damaging Het
Corin T C 5: 72,515,827 (GRCm39) D409G probably benign Het
Cry1 T C 10: 84,982,588 (GRCm39) probably null Het
Cttnbp2 T A 6: 18,427,689 (GRCm39) probably benign Het
Cyrib T A 15: 63,815,056 (GRCm39) T139S probably damaging Het
Dmxl1 T A 18: 50,022,531 (GRCm39) V1623E probably damaging Het
Dnah6 G T 6: 73,069,099 (GRCm39) D2477E possibly damaging Het
Dnajb12 GC G 10: 59,728,574 (GRCm39) probably null Het
Dop1a C G 9: 86,427,341 (GRCm39) R2164G probably damaging Het
Dsp A G 13: 38,368,014 (GRCm39) T678A possibly damaging Het
Farsb A C 1: 78,452,833 (GRCm39) I51S probably damaging Het
Gm10220 T A 5: 26,322,930 (GRCm39) I161L possibly damaging Het
Gm10782 G T 13: 56,510,987 (GRCm39) noncoding transcript Het
Gm12830 A T 4: 114,702,248 (GRCm39) T137S unknown Het
Gopc A G 10: 52,234,942 (GRCm39) L67P probably damaging Het
Hmcn1 T C 1: 150,551,291 (GRCm39) I2655V probably benign Het
Hmcn2 C T 2: 31,283,066 (GRCm39) Q1981* probably null Het
Ifi209 T A 1: 173,468,640 (GRCm39) S157T probably benign Het
Ift56 T G 6: 38,366,057 (GRCm39) C124W probably benign Het
Iqcf1 A T 9: 106,379,107 (GRCm39) I74F probably damaging Het
Irf3 A T 7: 44,649,382 (GRCm39) R78W probably damaging Het
Kank4 T C 4: 98,663,022 (GRCm39) D722G probably benign Het
Loxl1 A G 9: 58,198,065 (GRCm39) V597A possibly damaging Het
Marveld1 T C 19: 42,136,272 (GRCm39) L62P probably damaging Het
Mga T G 2: 119,747,107 (GRCm39) D419E possibly damaging Het
Mroh2a A G 1: 88,186,386 (GRCm39) S64G probably benign Het
Mroh2b A G 15: 4,938,463 (GRCm39) K251E possibly damaging Het
Myh4 A G 11: 67,142,644 (GRCm39) E935G probably damaging Het
Niban1 A G 1: 151,593,837 (GRCm39) T841A probably benign Het
Or4d11 G A 19: 12,013,192 (GRCm39) L305F probably benign Het
Pcdha9 T A 18: 37,131,156 (GRCm39) V75E probably damaging Het
Pebp4 A T 14: 70,200,991 (GRCm39) probably null Het
Pitx1 A G 13: 55,974,166 (GRCm39) S222P probably benign Het
Plekhg3 G A 12: 76,625,174 (GRCm39) V1339M possibly damaging Het
Plekhs1 C T 19: 56,468,260 (GRCm39) S276L possibly damaging Het
Plin4 T C 17: 56,411,932 (GRCm39) T700A possibly damaging Het
Plxnb2 T C 15: 89,048,412 (GRCm39) probably null Het
Pms2 T C 5: 143,864,943 (GRCm39) I675T probably damaging Het
Polrmt A G 10: 79,577,888 (GRCm39) L268P probably damaging Het
Rtp1 A G 16: 23,248,025 (GRCm39) T33A probably benign Het
Safb2 T C 17: 56,882,346 (GRCm39) probably benign Het
Sdk1 C A 5: 142,085,941 (GRCm39) P1383Q probably damaging Het
Setdb1 A T 3: 95,244,569 (GRCm39) C758S probably damaging Het
Sh3gl2 T C 4: 85,317,160 (GRCm39) probably benign Het
Slc13a2 G A 11: 78,295,648 (GRCm39) probably benign Het
Slc35b1 T C 11: 95,278,631 (GRCm39) Y126H probably damaging Het
Strip2 C A 6: 29,917,154 (GRCm39) probably benign Het
Tbx4 A G 11: 85,805,230 (GRCm39) T440A probably damaging Het
Tcf7l2 C A 19: 55,907,940 (GRCm39) probably null Het
Tgfb1 A C 7: 25,387,574 (GRCm39) D94A probably benign Het
Tmem132b T C 5: 125,864,797 (GRCm39) C968R probably damaging Het
Tmem176b T A 6: 48,811,467 (GRCm39) M61L probably benign Het
Tmem258 A G 19: 10,184,689 (GRCm39) probably null Het
Tpr T C 1: 150,302,639 (GRCm39) L1379S probably benign Het
Vmn2r44 T C 7: 8,383,123 (GRCm39) D157G possibly damaging Het
Wfdc8 T C 2: 164,439,649 (GRCm39) I244M probably benign Het
Zfp341 T C 2: 154,466,921 (GRCm39) S97P probably benign Het
Zfp655 T C 5: 145,180,445 (GRCm39) V101A probably benign Het
Zfp788 T C 7: 41,299,277 (GRCm39) S586P probably damaging Het
Zfp874b C T 13: 67,629,373 (GRCm39) V52I possibly damaging Het
Other mutations in Nat8f2
AlleleSourceChrCoordTypePredicted EffectPPH Score
FR4449:Nat8f2 UTSW 6 85,844,668 (GRCm39) missense possibly damaging 0.84
FR4737:Nat8f2 UTSW 6 85,844,668 (GRCm39) missense possibly damaging 0.84
R0063:Nat8f2 UTSW 6 85,844,815 (GRCm39) missense possibly damaging 0.50
R0063:Nat8f2 UTSW 6 85,844,815 (GRCm39) missense possibly damaging 0.50
R0384:Nat8f2 UTSW 6 85,845,350 (GRCm39) missense possibly damaging 0.63
R0532:Nat8f2 UTSW 6 85,844,784 (GRCm39) missense probably benign 0.01
R2143:Nat8f2 UTSW 6 85,845,239 (GRCm39) missense probably benign 0.00
R3698:Nat8f2 UTSW 6 85,844,778 (GRCm39) missense probably benign 0.16
R4335:Nat8f2 UTSW 6 85,845,233 (GRCm39) missense probably damaging 1.00
R5369:Nat8f2 UTSW 6 85,844,854 (GRCm39) nonsense probably null
R5714:Nat8f2 UTSW 6 85,844,891 (GRCm39) missense probably benign 0.43
R6737:Nat8f2 UTSW 6 85,845,194 (GRCm39) missense probably benign 0.00
R7676:Nat8f2 UTSW 6 85,845,194 (GRCm39) missense probably benign 0.00
R8054:Nat8f2 UTSW 6 85,844,754 (GRCm39) missense probably benign 0.00
R8415:Nat8f2 UTSW 6 85,845,024 (GRCm39) missense probably damaging 0.99
R9598:Nat8f2 UTSW 6 85,844,848 (GRCm39) missense probably benign 0.01
R9710:Nat8f2 UTSW 6 85,844,683 (GRCm39) nonsense probably null
Z1176:Nat8f2 UTSW 6 85,845,026 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTCTTCTGGAAGCCCATGG -3'
(R):5'- GGCCACATTATACAGCTTCCTC -3'

Sequencing Primer
(F):5'- GAGCACTATGTTGCACACTG -3'
(R):5'- ACATTATACAGCTTCCTCTTTCTCC -3'
Posted On 2016-10-05