Incidental Mutation 'R9598:Nat8f2'
ID 723383
Institutional Source Beutler Lab
Gene Symbol Nat8f2
Ensembl Gene ENSMUSG00000033634
Gene Name N-acetyltransferase 8 (GCN5-related) family member 2
Synonyms Cml2
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9598 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 85842404-85846119 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 85844848 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 171 (D171E)
Ref Sequence ENSEMBL: ENSMUSP00000044587 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045008]
AlphaFold Q8CHQ9
Predicted Effect probably benign
Transcript: ENSMUST00000045008
AA Change: D171E

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000044587
Gene: ENSMUSG00000033634
AA Change: D171E

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T C 4: 103,088,604 (GRCm39) I302V probably benign Het
Ackr2 A C 9: 121,737,657 (GRCm39) T11P possibly damaging Het
Ahnak A G 19: 8,981,149 (GRCm39) N811S probably benign Het
Atm T C 9: 53,431,381 (GRCm39) I326V probably benign Het
Ccn4 T A 15: 66,784,764 (GRCm39) C146S possibly damaging Het
Cdh23 A T 10: 60,214,574 (GRCm39) F1480L probably benign Het
Celsr2 T C 3: 108,322,578 (GRCm39) E78G possibly damaging Het
Ces1f A T 8: 93,983,494 (GRCm39) N504K probably benign Het
Chrna4 G A 2: 180,679,264 (GRCm39) S61L probably damaging Het
Clcn3 G T 8: 61,366,061 (GRCm39) T864K unknown Het
Cym A C 3: 107,126,941 (GRCm39) D71E possibly damaging Het
Ddx19b T C 8: 111,747,673 (GRCm39) D87G probably benign Het
Dnah7b T C 1: 46,292,621 (GRCm39) V3002A possibly damaging Het
Dnmt3a G A 12: 3,946,997 (GRCm39) G408S probably benign Het
Dock10 A T 1: 80,625,939 (GRCm39) D66E probably benign Het
Dsg3 A G 18: 20,672,789 (GRCm39) D820G probably damaging Het
Dst G A 1: 34,153,014 (GRCm39) V92I possibly damaging Het
Dusp16 T A 6: 134,695,185 (GRCm39) T549S probably benign Het
Ephx1 T A 1: 180,827,381 (GRCm39) K91* probably null Het
Flii A G 11: 60,617,991 (GRCm39) F9L probably benign Het
Fmn2 T C 1: 174,436,308 (GRCm39) S760P unknown Het
Fmnl3 A T 15: 99,223,210 (GRCm39) V378E probably damaging Het
Gbp4 A G 5: 105,284,740 (GRCm39) S50P probably damaging Het
Glra3 G T 8: 56,393,718 (GRCm39) probably benign Het
Gm10188 T C 1: 132,157,033 (GRCm39) D111G unknown Het
Gnptab A T 10: 88,247,876 (GRCm39) E101V probably damaging Het
Hacl1 C A 14: 31,332,197 (GRCm39) M525I probably benign Het
Hid1 T A 11: 115,239,738 (GRCm39) T731S probably damaging Het
Ifi203 T C 1: 173,751,522 (GRCm39) Y847C probably damaging Het
Igfbpl1 C A 4: 45,815,472 (GRCm39) L221F probably null Het
Ighv1-12 A G 12: 114,579,757 (GRCm39) Y22H probably benign Het
Inpp5f A C 7: 128,278,515 (GRCm39) D435A possibly damaging Het
L3mbtl4 T A 17: 68,866,767 (GRCm39) H335Q probably benign Het
Mapre2 A G 18: 24,016,707 (GRCm39) D287G probably benign Het
Mfsd14b G A 13: 65,214,522 (GRCm39) R477W probably benign Het
Mfsd14b C A 13: 65,221,414 (GRCm39) V293L probably benign Het
Msh4 A T 3: 153,607,148 (GRCm39) S131T possibly damaging Het
Ndufb5 G T 3: 32,795,881 (GRCm39) L24F probably benign Het
Nkain2 T C 10: 32,278,291 (GRCm39) I45V probably damaging Het
Nlrp9b T G 7: 19,753,302 (GRCm39) M69R probably benign Het
Or4k37 A T 2: 111,159,633 (GRCm39) R290* probably null Het
Or5d39 A C 2: 87,979,935 (GRCm39) C143G probably damaging Het
Or5d46 A T 2: 88,170,821 (GRCm39) K304I possibly damaging Het
Oxct2b T A 4: 123,010,413 (GRCm39) V111E possibly damaging Het
Parva T A 7: 112,187,753 (GRCm39) V350D probably damaging Het
Pcdhb7 A G 18: 37,475,434 (GRCm39) D190G probably damaging Het
Pik3c2b T C 1: 133,012,725 (GRCm39) probably null Het
Plcz1 T A 6: 139,985,484 (GRCm39) Q19L possibly damaging Het
Prag1 A G 8: 36,571,069 (GRCm39) N551D probably benign Het
Rb1cc1 G A 1: 6,310,189 (GRCm39) V196I probably damaging Het
Rnf113a2 T C 12: 84,464,270 (GRCm39) V54A probably benign Het
Sec14l1 G A 11: 117,044,102 (GRCm39) E537K probably damaging Het
Shank1 G A 7: 43,962,342 (GRCm39) S71N unknown Het
Shtn1 T A 19: 59,026,735 (GRCm39) I119F probably damaging Het
Szt2 A G 4: 118,266,358 (GRCm39) probably null Het
Tasp1 T C 2: 139,819,567 (GRCm39) D212G probably benign Het
Tmpo A G 10: 90,994,608 (GRCm39) probably null Het
Usp17lb T C 7: 104,489,718 (GRCm39) K403R probably benign Het
Vcpip1 A G 1: 9,816,019 (GRCm39) V788A probably benign Het
Wdr25 C A 12: 108,864,613 (GRCm39) H253N probably benign Het
Wwc2 G A 8: 48,328,360 (GRCm39) S367L probably damaging Het
Zfr A G 15: 12,162,292 (GRCm39) E814G probably 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
R5484:Nat8f2 UTSW 6 85,844,994 (GRCm39) missense possibly damaging 0.76
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
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'- ACTATACCCTGGTCCTGAAGC -3'
(R):5'- TGCTGACATCACCAAGTCTTAC -3'

Sequencing Primer
(F):5'- TATACCCTGGTCCTGAAGCAAAAGG -3'
(R):5'- AGTCTTACCTGAATGCACATGGC -3'
Posted On 2022-08-09