Incidental Mutation 'R1341:Nat8f4'
ID 157043
Institutional Source Beutler Lab
Gene Symbol Nat8f4
Ensembl Gene ENSMUSG00000068299
Gene Name N-acetyltransferase 8 (GCN5-related) family member 4
Synonyms 1700019G17Rik
MMRRC Submission 039406-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R1341 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 85876033-85881866 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 85878406 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 39 (L39Q)
Ref Sequence ENSEMBL: ENSMUSP00000124071 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095757] [ENSMUST00000159755]
AlphaFold G5E8L3
Predicted Effect probably benign
Transcript: ENSMUST00000095757
AA Change: L39Q

PolyPhen 2 Score 0.291 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000093430
Gene: ENSMUSG00000068299
AA Change: L39Q

DomainStartEndE-ValueType
transmembrane domain 33 55 N/A INTRINSIC
Pfam:Acetyltransf_10 75 192 2.5e-11 PFAM
Pfam:Acetyltransf_8 83 200 2.1e-11 PFAM
Pfam:Acetyltransf_7 104 194 3.3e-14 PFAM
Pfam:Acetyltransf_1 111 193 6.3e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000159755
AA Change: L39Q

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000124071
Gene: ENSMUSG00000068299
AA Change: L39Q

DomainStartEndE-ValueType
transmembrane domain 33 55 N/A INTRINSIC
transmembrane domain 60 82 N/A INTRINSIC
low complexity region 117 130 N/A INTRINSIC
Meta Mutation Damage Score 0.2370 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.1%
  • 20x: 88.9%
Validation Efficiency 96% (53/55)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp6v0e2 A G 6: 48,517,045 (GRCm39) Y75C probably benign Het
Bltp3a T C 17: 28,096,393 (GRCm39) probably benign Het
Cacna1g A G 11: 94,324,582 (GRCm39) L1190P probably damaging Het
Ccdc190 A G 1: 169,757,586 (GRCm39) D15G probably damaging Het
Cep126 G T 9: 8,099,777 (GRCm39) P919Q possibly damaging Het
Cfhr4 T A 1: 139,660,131 (GRCm39) T665S probably damaging Het
Chchd6 A G 6: 89,361,623 (GRCm39) V260A probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Cramp1 T C 17: 25,196,514 (GRCm39) K867E probably damaging Het
Dnah6 A T 6: 73,168,602 (GRCm39) N440K probably benign Het
Fbxw15 G A 9: 109,387,314 (GRCm39) S227F probably damaging Het
Gjb3 G A 4: 127,220,224 (GRCm39) R103W probably damaging Het
Gm17421 A T 12: 113,333,334 (GRCm39) noncoding transcript Het
H2bc13 T C 13: 21,900,280 (GRCm39) K12E probably benign Het
Hdac3 A G 18: 38,087,766 (GRCm39) V36A probably damaging Het
Hoxa13 CCG CCGCG 6: 52,237,618 (GRCm39) probably null Het
Itga10 G A 3: 96,559,811 (GRCm39) E489K probably damaging Het
Mgat5b A C 11: 116,869,223 (GRCm39) I589L probably benign Het
Mindy4 A G 6: 55,232,601 (GRCm39) N348S probably benign Het
Mmp15 A G 8: 96,098,931 (GRCm39) D586G probably benign Het
Mmp9 A G 2: 164,791,247 (GRCm39) D139G probably damaging Het
Morc2a C A 11: 3,630,216 (GRCm39) L471I possibly damaging Het
Mycbp2 T A 14: 103,536,303 (GRCm39) probably benign Het
Mylip T A 13: 45,559,412 (GRCm39) S105T probably damaging Het
Nrbp1 T A 5: 31,403,157 (GRCm39) I210N probably damaging Het
Obscn T C 11: 58,920,198 (GRCm39) probably benign Het
Or10ak13 T C 4: 118,639,579 (GRCm39) T68A probably benign Het
Or11m3 G A 15: 98,396,135 (GRCm39) V261M possibly damaging Het
Or51k2 T A 7: 103,596,589 (GRCm39) V272D possibly damaging Het
Or5t7 T C 2: 86,507,507 (GRCm39) M57V possibly damaging Het
Or9k2 G T 10: 129,999,185 (GRCm39) D3E probably benign Het
Pramel29 T C 4: 143,934,129 (GRCm39) D326G probably damaging Het
Prl2c2 G C 13: 13,176,786 (GRCm39) T47R probably damaging Het
Rab11fip1 G T 8: 27,633,388 (GRCm39) A1106E probably damaging Het
Rfc1 A G 5: 65,448,537 (GRCm39) S363P probably damaging Het
Skint10 A G 4: 112,622,228 (GRCm39) probably benign Het
Spen T C 4: 141,196,711 (GRCm39) N3595D possibly damaging Het
Swsap1 A G 9: 21,868,450 (GRCm39) K241E probably benign Het
Tab1 A G 15: 80,044,315 (GRCm39) T448A possibly damaging Het
Tktl1 G T X: 73,241,289 (GRCm39) G302V probably damaging Het
Usp25 A G 16: 76,912,331 (GRCm39) T1017A probably benign Het
Vmn2r78 T A 7: 86,571,477 (GRCm39) M429K possibly damaging Het
Wdr49 A T 3: 75,336,640 (GRCm39) F356I probably damaging Het
Wnt1 T C 15: 98,689,764 (GRCm39) F184L probably damaging Het
Yy1 T C 12: 108,759,445 (GRCm39) I36T unknown Het
Zbtb39 A G 10: 127,579,369 (GRCm39) I648V possibly damaging Het
Other mutations in Nat8f4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00158:Nat8f4 APN 6 85,877,969 (GRCm39) missense probably benign 0.05
IGL03072:Nat8f4 APN 6 85,877,836 (GRCm39) intron probably benign
R1725:Nat8f4 UTSW 6 85,878,080 (GRCm39) nonsense probably null
R1923:Nat8f4 UTSW 6 85,878,497 (GRCm39) missense probably damaging 1.00
R2258:Nat8f4 UTSW 6 85,878,207 (GRCm39) missense possibly damaging 0.84
R3975:Nat8f4 UTSW 6 85,878,052 (GRCm39) missense possibly damaging 0.62
R4697:Nat8f4 UTSW 6 85,878,368 (GRCm39) missense probably benign 0.01
R4784:Nat8f4 UTSW 6 85,878,481 (GRCm39) missense probably benign 0.03
R4924:Nat8f4 UTSW 6 85,878,401 (GRCm39) missense probably benign 0.03
R4991:Nat8f4 UTSW 6 85,878,122 (GRCm39) missense probably benign 0.30
R6074:Nat8f4 UTSW 6 85,878,169 (GRCm39) missense probably damaging 0.98
R7058:Nat8f4 UTSW 6 85,878,271 (GRCm39) missense possibly damaging 0.73
R7790:Nat8f4 UTSW 6 85,877,873 (GRCm39) missense probably benign 0.00
R8079:Nat8f4 UTSW 6 85,877,976 (GRCm39) missense probably benign 0.25
R9782:Nat8f4 UTSW 6 85,878,052 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTCAGCTTGCAAACTTGTAGCCAC -3'
(R):5'- TGCGGATGGCTTGACACTTCTC -3'

Sequencing Primer
(F):5'- GTAGCCACGTAATTTCTCCAAG -3'
(R):5'- ACACCTGTGAGTGGAGTCTC -3'
Posted On 2014-02-11