Incidental Mutation 'R4516:Naa12'
ID 332935
Institutional Source Beutler Lab
Gene Symbol Naa12
Ensembl Gene ENSMUSG00000024571
Gene Name N(alpha)-acetyltransferase 12, NatA catalytic subunit
Synonyms Gm16286
MMRRC Submission 041760-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.186) question?
Stock # R4516 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 80250041-80255949 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 80254791 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 28 (M28I)
Ref Sequence ENSEMBL: ENSMUSP00000121883 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025463] [ENSMUST00000025464] [ENSMUST00000125127] [ENSMUST00000127234] [ENSMUST00000145963]
AlphaFold Q9CQX6
Predicted Effect probably benign
Transcript: ENSMUST00000025463
AA Change: M28I

PolyPhen 2 Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000025463
Gene: ENSMUSG00000024571
AA Change: M28I

DomainStartEndE-ValueType
Pfam:Acetyltransf_10 32 125 7.1e-8 PFAM
Pfam:Acetyltransf_7 40 130 2e-9 PFAM
Pfam:Acetyltransf_1 46 129 6.1e-18 PFAM
Pfam:FR47 56 137 2.9e-10 PFAM
low complexity region 196 208 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000025464
SMART Domains Protein: ENSMUSP00000025464
Gene: ENSMUSG00000057130

DomainStartEndE-ValueType
Pfam:DIM1 4 93 4.1e-49 PFAM
Pfam:Thioredoxin 8 91 1.4e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125127
AA Change: M28I

PolyPhen 2 Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000123193
Gene: ENSMUSG00000024571
AA Change: M28I

DomainStartEndE-ValueType
Pfam:Acetyltransf_7 40 129 2.3e-9 PFAM
Pfam:Acetyltransf_1 46 129 1e-17 PFAM
Pfam:FR47 56 137 2.9e-10 PFAM
low complexity region 196 208 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125352
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126177
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126360
Predicted Effect probably benign
Transcript: ENSMUST00000127234
AA Change: M28I

PolyPhen 2 Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000121883
Gene: ENSMUSG00000024571
AA Change: M28I

DomainStartEndE-ValueType
Pfam:Acetyltransf_10 32 125 7.1e-8 PFAM
Pfam:Acetyltransf_7 40 130 2e-9 PFAM
Pfam:Acetyltransf_1 46 129 6.1e-18 PFAM
Pfam:FR47 56 137 2.9e-10 PFAM
low complexity region 196 208 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156400
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130675
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153363
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145116
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155879
Predicted Effect probably benign
Transcript: ENSMUST00000145963
SMART Domains Protein: ENSMUSP00000115320
Gene: ENSMUSG00000057130

DomainStartEndE-ValueType
Pfam:DIM1 4 136 3.4e-73 PFAM
Pfam:Thioredoxin 8 109 3.6e-8 PFAM
Meta Mutation Damage Score 0.0943 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.5%
  • 10x: 96.6%
  • 20x: 92.9%
Validation Efficiency 86% (51/59)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bean1 T C 8: 104,941,786 (GRCm39) S211P probably damaging Het
Bltp1 T C 3: 36,949,460 (GRCm39) S369P possibly damaging Het
Camta1 A G 4: 151,229,177 (GRCm39) S552P possibly damaging Het
Cdh11 T C 8: 103,400,594 (GRCm39) T125A possibly damaging Het
Cdk5rap2 A T 4: 70,194,952 (GRCm39) probably null Het
Cenpc1 A G 5: 86,195,446 (GRCm39) S108P possibly damaging Het
Cfap20dc A T 14: 8,536,609 (GRCm38) D199E probably damaging Het
Cfap44 T A 16: 44,294,227 (GRCm39) Y224* probably null Het
Cfap46 G A 7: 139,239,998 (GRCm39) probably benign Het
Cntrl G A 2: 35,017,993 (GRCm39) V468I probably benign Het
Col6a6 C T 9: 105,576,148 (GRCm39) V2071I possibly damaging Het
Coq7 A T 7: 118,109,130 (GRCm39) L306Q unknown Het
D7Ertd443e C G 7: 133,895,057 (GRCm39) Q591H probably damaging Het
Dchs1 C T 7: 105,404,059 (GRCm39) V2828M probably damaging Het
Dzank1 T A 2: 144,352,042 (GRCm39) probably benign Het
Elmo1 C T 13: 20,467,084 (GRCm39) T235I probably benign Het
Elp3 A T 14: 65,785,326 (GRCm39) F492I possibly damaging Het
Espl1 A G 15: 102,231,671 (GRCm39) S90G probably benign Het
Fbxl20 T C 11: 97,986,061 (GRCm39) probably benign Het
Gm10722 T C 9: 3,000,937 (GRCm39) C6R probably benign Het
Got1 T C 19: 43,493,280 (GRCm39) Y243C probably damaging Het
Hipk1 G T 3: 103,657,688 (GRCm39) H799N probably damaging Het
Kif21a A T 15: 90,855,345 (GRCm39) M673K probably benign Het
Lama3 T A 18: 12,628,415 (GRCm39) D1502E probably damaging Het
Limk1 A G 5: 134,705,640 (GRCm39) probably benign Het
Myo5b A G 18: 74,758,745 (GRCm39) Y242C probably damaging Het
Ncbp1 T C 4: 46,157,824 (GRCm39) V354A probably damaging Het
Ncoa2 T C 1: 13,217,130 (GRCm39) D1380G probably damaging Het
Ntng1 A G 3: 109,842,329 (GRCm39) I148T probably damaging Het
Oas1d A T 5: 121,057,233 (GRCm39) T280S probably damaging Het
Or1e29 C T 11: 73,667,866 (GRCm39) G96S probably benign Het
Or4c15b T A 2: 89,113,187 (GRCm39) M118L probably benign Het
Pax7 T G 4: 139,508,104 (GRCm39) D307A probably benign Het
Pdxdc1 G A 16: 13,656,210 (GRCm39) Q621* probably null Het
Rab29 A T 1: 131,795,469 (GRCm39) Y27F possibly damaging Het
Rab3gap2 G A 1: 184,999,265 (GRCm39) V991I probably benign Het
Ric1 A G 19: 29,548,165 (GRCm39) T278A probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Slc47a1 T C 11: 61,235,339 (GRCm39) H498R probably benign Het
Spmip6 T C 4: 41,517,200 (GRCm39) probably benign Het
Tas2r116 T C 6: 132,833,113 (GRCm39) L238P probably damaging Het
Tigd5 A T 15: 75,782,364 (GRCm39) R252* probably null Het
Tlr6 A G 5: 65,112,247 (GRCm39) F220S possibly damaging Het
Tmem106b C T 6: 13,075,098 (GRCm39) T95I probably damaging Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Vmn1r174 A G 7: 23,453,768 (GRCm39) I145V probably benign Het
Vps26a T C 10: 62,304,124 (GRCm39) M116V probably damaging Het
Other mutations in Naa12
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0408:Naa12 UTSW 18 80,255,029 (GRCm39) missense probably damaging 1.00
R1748:Naa12 UTSW 18 80,255,161 (GRCm39) missense probably benign 0.00
R4012:Naa12 UTSW 18 80,255,339 (GRCm39) missense probably benign 0.30
R5460:Naa12 UTSW 18 80,255,138 (GRCm39) missense probably damaging 1.00
R5464:Naa12 UTSW 18 80,255,138 (GRCm39) missense probably damaging 1.00
R7413:Naa12 UTSW 18 80,254,874 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- TGTCAATTCCTCGAGGCAAACG -3'
(R):5'- AAGTTCTCAATCATGGCCCTGG -3'

Sequencing Primer
(F):5'- CAAACGGTGCTGGTGTCG -3'
(R):5'- AAGCCTGGTCCATGAGCTTCTG -3'
Posted On 2015-08-18