Incidental Mutation 'R1748:Naa12'
ID 194170
Institutional Source Beutler Lab
Gene Symbol Naa12
Ensembl Gene ENSMUSG00000024571
Gene Name N(alpha)-acetyltransferase 12, NatA catalytic subunit
Synonyms Gm16286
MMRRC Submission 039780-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.186) question?
Stock # R1748 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 80250041-80255949 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80255161 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 152 (S152P)
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: S152P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000025463
Gene: ENSMUSG00000024571
AA Change: S152P

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: S152P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000123193
Gene: ENSMUSG00000024571
AA Change: S152P

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: S152P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000121883
Gene: ENSMUSG00000024571
AA Change: S152P

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: ENSMUST00000155879
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145116
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130675
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153363
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156400
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
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 G T 16: 20,152,338 (GRCm39) Q1403K probably benign Het
Adamts12 G A 15: 11,241,548 (GRCm39) M373I probably damaging Het
Agrp G T 8: 106,293,467 (GRCm39) T106K probably damaging Het
Aire T C 10: 77,879,314 (GRCm39) H15R probably damaging Het
Aldh3b2 T C 19: 4,027,572 (GRCm39) F38L probably damaging Het
Alk A C 17: 72,910,416 (GRCm39) C97G probably benign Het
Ano8 T C 8: 71,931,602 (GRCm39) probably benign Het
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Arsk T A 13: 76,210,529 (GRCm39) H506L probably benign Het
Asgr2 G T 11: 69,987,658 (GRCm39) R52L probably damaging Het
Atp2a1 A G 7: 126,058,780 (GRCm39) I145T possibly damaging Het
Atrnl1 A G 19: 57,703,134 (GRCm39) T1051A probably damaging Het
Cacna1e A T 1: 154,362,315 (GRCm39) V424D possibly damaging Het
Capn3 T C 2: 120,327,494 (GRCm39) V574A probably benign Het
Capzb C A 4: 138,984,679 (GRCm39) D67E probably damaging Het
Ccdc68 A T 18: 70,089,062 (GRCm39) T202S probably benign Het
Ccser2 T C 14: 36,618,270 (GRCm39) K123R probably damaging Het
Ccser2 T A 14: 36,618,271 (GRCm39) K123* probably null Het
Ces2h T C 8: 105,744,473 (GRCm39) I316T probably benign Het
Chd3 T G 11: 69,255,523 (GRCm39) K122Q possibly damaging Het
Col12a1 T C 9: 79,580,279 (GRCm39) T1533A probably benign Het
Cr2 T A 1: 194,838,213 (GRCm39) K1084* probably null Het
Ddx28 A G 8: 106,737,314 (GRCm39) L248P probably benign Het
Depdc5 A G 5: 33,075,286 (GRCm39) E488G probably benign Het
Dld T C 12: 31,384,745 (GRCm39) T305A probably benign Het
Dok5 T A 2: 170,683,373 (GRCm39) F211L probably damaging Het
Duox2 T C 2: 122,117,532 (GRCm39) D934G probably benign Het
Eif3a G A 19: 60,755,236 (GRCm39) T982I unknown Het
Erbb2 G T 11: 98,326,161 (GRCm39) R979L probably benign Het
Espl1 G T 15: 102,206,964 (GRCm39) V143L possibly damaging Het
Fanci T C 7: 79,080,236 (GRCm39) L598P probably damaging Het
Fat2 T A 11: 55,147,473 (GRCm39) E3923V probably damaging Het
Fhod3 A T 18: 24,903,550 (GRCm39) K95* probably null Het
Gpr108 G T 17: 57,543,217 (GRCm39) T484K probably damaging Het
Hao1 T A 2: 134,340,238 (GRCm39) N351I possibly damaging Het
Hepacam A T 9: 37,295,189 (GRCm39) N308I possibly damaging Het
Herc2 T C 7: 55,798,571 (GRCm39) probably null Het
Hltf T C 3: 20,130,685 (GRCm39) I301T probably benign Het
Igsf10 A T 3: 59,226,514 (GRCm39) N2386K probably damaging Het
Ikbke G T 1: 131,186,937 (GRCm39) T585K probably benign Het
Iqgap3 A G 3: 88,021,287 (GRCm39) T448A possibly damaging Het
Kl T C 5: 150,904,450 (GRCm39) S401P possibly damaging Het
Lama4 T C 10: 38,941,615 (GRCm39) V684A probably benign Het
Lgals8 A T 13: 12,469,824 (GRCm39) F45Y probably damaging Het
Lgalsl G A 11: 20,776,491 (GRCm39) R134C probably benign Het
Lmcd1 T C 6: 112,306,875 (GRCm39) V349A probably benign Het
Lrp1b T A 2: 41,618,718 (GRCm39) N119Y possibly damaging Het
Lrrc73 T A 17: 46,566,621 (GRCm39) I157N probably damaging Het
Map3k8 A G 18: 4,334,766 (GRCm39) Y293H probably damaging Het
Mybphl A T 3: 108,282,400 (GRCm39) probably null Het
Ndrg1 A G 15: 66,802,930 (GRCm39) M140T possibly damaging Het
Or2n1e T A 17: 38,585,997 (GRCm39) C112S possibly damaging Het
Or8b38 A G 9: 37,972,796 (GRCm39) Y60C probably damaging Het
Pbx2 T C 17: 34,812,951 (GRCm39) S76P possibly damaging Het
Plcl2 T A 17: 50,913,826 (GRCm39) S278R probably benign Het
Polr3d A T 14: 70,676,915 (GRCm39) L393* probably null Het
Prmt6 T C 3: 110,157,683 (GRCm39) Q202R probably benign Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Sag T A 1: 87,759,662 (GRCm39) I300N probably damaging Het
Sap25 T A 5: 137,640,180 (GRCm39) probably null Het
Scarb2 A G 5: 92,608,695 (GRCm39) L177P probably damaging Het
Sh3pxd2b A T 11: 32,372,203 (GRCm39) N457Y possibly damaging Het
Siae T A 9: 37,542,902 (GRCm39) probably null Het
Slc36a1 T C 11: 55,119,150 (GRCm39) L375P probably damaging Het
Smg8 A G 11: 86,976,594 (GRCm39) V329A probably damaging Het
Tas2r113 A T 6: 132,870,695 (GRCm39) Y241F probably damaging Het
Tm9sf3 T G 19: 41,244,668 (GRCm39) S70R probably benign Het
Tmem144 C T 3: 79,732,594 (GRCm39) S228N probably damaging Het
Tmem45a C A 16: 56,642,701 (GRCm39) V157F possibly damaging Het
Tpbg G T 9: 85,726,429 (GRCm39) V133L probably damaging Het
Trpv3 G A 11: 73,186,209 (GRCm39) V667I possibly damaging Het
Ube2c T C 2: 164,613,241 (GRCm39) F53S probably damaging Het
Vmn1r78 T A 7: 11,887,250 (GRCm39) V287D probably damaging Het
Vmn2r114 T A 17: 23,527,035 (GRCm39) D499V probably benign Het
Zpld2 C G 4: 133,927,610 (GRCm39) C381S probably damaging Het
Zpld2 T A 4: 133,929,430 (GRCm39) T292S possibly damaging Het
Other mutations in Naa12
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0408:Naa12 UTSW 18 80,255,029 (GRCm39) missense probably damaging 1.00
R4012:Naa12 UTSW 18 80,255,339 (GRCm39) missense probably benign 0.30
R4516:Naa12 UTSW 18 80,254,791 (GRCm39) missense probably benign 0.29
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'- GCTTCCAGGGCCATGATTGAGAAC -3'
(R):5'- AGAGCCATTCAGGTCCCATTCAGG -3'

Sequencing Primer
(F):5'- GCCATGATTGAGAACTTCAGC -3'
(R):5'- GCAAGCTGTCTTGGACATCAG -3'
Posted On 2014-05-23