Incidental Mutation 'R2389:Nat8f7'
ID 247736
Institutional Source Beutler Lab
Gene Symbol Nat8f7
Ensembl Gene ENSMUSG00000089694
Gene Name N-acetyltransferase 8 (GCN5-related) family member 7
Synonyms Gm4477
Accession Numbers
Essential gene? Probably non essential (E-score: 0.122) question?
Stock # R2389 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 85683682-85685711 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 85684476 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 121 (M121I)
Ref Sequence ENSEMBL: ENSMUSP00000136338 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072018] [ENSMUST00000160534] [ENSMUST00000179613] [ENSMUST00000213058]
AlphaFold E0CYR6
Predicted Effect probably benign
Transcript: ENSMUST00000072018
SMART Domains Protein: ENSMUSP00000071904
Gene: ENSMUSG00000063810

DomainStartEndE-ValueType
coiled coil region 10 39 N/A INTRINSIC
low complexity region 67 80 N/A INTRINSIC
low complexity region 98 119 N/A INTRINSIC
Blast:MYSc 127 233 1e-21 BLAST
internal_repeat_3 408 511 2.48e-7 PROSPERO
internal_repeat_2 414 804 2.09e-12 PROSPERO
internal_repeat_1 438 834 4.54e-18 PROSPERO
internal_repeat_3 652 757 2.48e-7 PROSPERO
low complexity region 903 908 N/A INTRINSIC
internal_repeat_1 916 1385 4.54e-18 PROSPERO
internal_repeat_2 1024 1390 2.09e-12 PROSPERO
low complexity region 1572 1586 N/A INTRINSIC
low complexity region 2004 2017 N/A INTRINSIC
low complexity region 2760 2773 N/A INTRINSIC
low complexity region 2950 2968 N/A INTRINSIC
low complexity region 3013 3030 N/A INTRINSIC
Pfam:ALMS_motif 3125 3247 1.8e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160534
AA Change: M121I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000123947
Gene: ENSMUSG00000089694
AA Change: M121I

DomainStartEndE-ValueType
transmembrane domain 37 56 N/A INTRINSIC
Pfam:Acetyltransf_10 71 193 1.8e-10 PFAM
Pfam:Acetyltransf_4 75 204 2e-9 PFAM
Pfam:Acetyltransf_7 105 195 5.9e-11 PFAM
Pfam:Acetyltransf_1 112 194 1.2e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179613
AA Change: M121I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000136338
Gene: ENSMUSG00000089694
AA Change: M121I

DomainStartEndE-ValueType
transmembrane domain 37 56 N/A INTRINSIC
Pfam:Acetyltransf_10 71 193 2.2e-10 PFAM
Pfam:Acetyltransf_4 75 202 1.8e-8 PFAM
Pfam:Acetyltransf_7 105 195 5.7e-10 PFAM
Pfam:Acetyltransf_1 112 194 1.2e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213058
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr5 T C 2: 158,467,132 (GRCm39) V24A probably benign Het
Adrm1 C A 2: 179,816,116 (GRCm39) probably benign Het
Cdk13 T A 13: 17,926,361 (GRCm39) H813L probably damaging Het
Cdkal1 T A 13: 29,736,219 (GRCm39) H300L probably damaging Het
Cnksr1 T C 4: 133,961,057 (GRCm39) I235V probably benign Het
Ctnnd1 T A 2: 84,454,615 (GRCm39) Q11L probably null Het
Dync2h1 T C 9: 7,122,618 (GRCm39) I2113V possibly damaging Het
Eng T C 2: 32,547,684 (GRCm39) probably null Het
Gria2 A G 3: 80,609,932 (GRCm39) W626R probably damaging Het
Kctd1 A G 18: 15,195,268 (GRCm39) S452P possibly damaging Het
Kdm4c T C 4: 74,252,107 (GRCm39) probably null Het
Kntc1 C T 5: 123,919,255 (GRCm39) L845F probably damaging Het
Lmf1 G A 17: 25,873,445 (GRCm39) V317M probably damaging Het
Ppfibp1 A T 6: 146,923,669 (GRCm39) H667L probably damaging Het
Pramel31 T A 4: 144,089,983 (GRCm39) L341H probably damaging Het
Prss12 A G 3: 123,280,670 (GRCm39) N452D possibly damaging Het
Rab17 T C 1: 90,891,926 (GRCm39) T33A probably benign Het
Rxfp3 A G 15: 11,036,770 (GRCm39) C201R probably damaging Het
Spag17 A G 3: 100,014,153 (GRCm39) Y2142C probably benign Het
Stx6 T C 1: 155,073,164 (GRCm39) V225A possibly damaging Het
Ugt2b5 G A 5: 87,275,541 (GRCm39) P437S probably damaging Het
Usp13 A G 3: 32,959,613 (GRCm39) K568R probably benign Het
Zan A G 5: 137,474,642 (GRCm39) probably null Het
Zbtb8b T C 4: 129,327,066 (GRCm39) E33G probably benign Het
Zcchc17 T A 4: 130,220,997 (GRCm39) K185* probably null Het
Other mutations in Nat8f7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01305:Nat8f7 APN 6 85,684,570 (GRCm39) nonsense probably null
ANU22:Nat8f7 UTSW 6 85,684,570 (GRCm39) nonsense probably null
R1017:Nat8f7 UTSW 6 85,684,552 (GRCm39) missense probably damaging 1.00
R1834:Nat8f7 UTSW 6 85,684,793 (GRCm39) missense probably benign 0.01
R5426:Nat8f7 UTSW 6 85,684,805 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- GGTGGAAAGGACAACTTCACTG -3'
(R):5'- TTTGTTCCGCAGAGGCATGG -3'

Sequencing Primer
(F):5'- ACTGAAGCCCTGCATCTGTG -3'
(R):5'- CCACATGCTGCTGCTGC -3'
Posted On 2014-11-11