Incidental Mutation 'R7687:Naa11'
ID 593144
Institutional Source Beutler Lab
Gene Symbol Naa11
Ensembl Gene ENSMUSG00000046000
Gene Name N(alpha)-acetyltransferase 11, NatA catalytic subunit
Synonyms Ard1b
Accession Numbers
Essential gene? Probably non essential (E-score: 0.229) question?
Stock # R7687 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 97382198-97392379 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 97391789 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 170 (V170E)
Ref Sequence ENSEMBL: ENSMUSP00000057336 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060265]
AlphaFold Q3UX61
Predicted Effect probably benign
Transcript: ENSMUST00000060265
AA Change: V170E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000057336
Gene: ENSMUSG00000046000
AA Change: V170E

DomainStartEndE-ValueType
Pfam:Acetyltransf_10 32 125 2.7e-8 PFAM
Pfam:Acetyltransf_7 40 129 1.5e-9 PFAM
Pfam:Acetyltransf_1 46 129 1.4e-18 PFAM
Pfam:FR47 56 137 1.1e-9 PFAM
low complexity region 195 206 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180634
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181724
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,258,182 (GRCm38) K2383R probably benign Het
Acly C T 11: 100,504,854 (GRCm38) probably null Het
Baiap3 T A 17: 25,249,337 (GRCm38) I276F possibly damaging Het
Cdc14b A T 13: 64,209,193 (GRCm38) D419E probably benign Het
Celsr2 G T 3: 108,397,769 (GRCm38) P2165T probably benign Het
Clk4 A G 11: 51,281,398 (GRCm38) D476G probably benign Het
Dera A G 6: 137,836,880 (GRCm38) T10A Het
Dip2c A T 13: 9,604,581 (GRCm38) T742S probably benign Het
Dohh C A 10: 81,387,806 (GRCm38) A231E probably benign Het
Dot1l T G 10: 80,789,368 (GRCm38) S1150A possibly damaging Het
Eea1 T A 10: 96,026,598 (GRCm38) I794N probably benign Het
En2 T C 5: 28,170,289 (GRCm38) S277P probably damaging Het
Erich1 A G 8: 14,030,691 (GRCm38) L276P probably damaging Het
Flnb A G 14: 7,924,224 (GRCm38) N1779S probably damaging Het
Frzb T A 2: 80,424,635 (GRCm38) T186S probably benign Het
Gdf7 T A 12: 8,298,257 (GRCm38) R347* probably null Het
Ighv9-4 T C 12: 114,300,263 (GRCm38) I17V not run Het
Ipo13 G A 4: 117,911,891 (GRCm38) P235S probably benign Het
Itga2 C A 13: 114,866,260 (GRCm38) G565C probably damaging Het
Kcnc4 CCCGCCGCCGCCGCCGCCGCCGC CCCGCCGCCGCCGCCGCCGCCGCCGC 3: 107,458,609 (GRCm38) probably benign Het
Kcnk10 A G 12: 98,435,096 (GRCm38) I440T probably damaging Het
Kdm3a T A 6: 71,599,492 (GRCm38) K779N possibly damaging Het
Kmt2d C T 15: 98,862,120 (GRCm38) D1086N unknown Het
Kntc1 A G 5: 123,759,089 (GRCm38) I172V probably benign Het
Maip1 A G 1: 57,411,844 (GRCm38) E215G probably damaging Het
Mms19 A T 19: 41,955,168 (GRCm38) M417K possibly damaging Het
Mslnl T C 17: 25,743,183 (GRCm38) V185A probably damaging Het
Ncapg C T 5: 45,699,885 (GRCm38) P980S probably benign Het
Olfr170 T C 16: 19,605,735 (GRCm38) N310S probably benign Het
Pbxip1 A G 3: 89,448,199 (GRCm38) D675G probably damaging Het
Pdlim5 A G 3: 142,277,847 (GRCm38) S382P probably benign Het
Pkd1l1 T A 11: 8,854,390 (GRCm38) I2184F Het
Plau A G 14: 20,839,798 (GRCm38) Y237C probably damaging Het
Ppl T C 16: 5,097,942 (GRCm38) T586A probably benign Het
Rapgef6 T G 11: 54,661,075 (GRCm38) I923S possibly damaging Het
Rbfox2 C T 15: 77,306,494 (GRCm38) G17D unknown Het
Sema3b T C 9: 107,603,814 (GRCm38) D108G probably damaging Het
Slc6a20a A G 9: 123,656,266 (GRCm38) I297T probably damaging Het
Slit1 A G 19: 41,650,689 (GRCm38) F261L probably benign Het
Tcp10a T A 17: 7,345,108 (GRCm38) V433D probably damaging Het
Tktl2 A G 8: 66,513,101 (GRCm38) E437G probably damaging Het
Tll1 G T 8: 64,121,492 (GRCm38) Y109* probably null Het
Tmem79 A G 3: 88,332,581 (GRCm38) V274A probably damaging Het
Tnfrsf23 G A 7: 143,681,462 (GRCm38) S55L probably benign Het
Ubd T C 17: 37,193,974 (GRCm38) probably null Het
Ubl3 C A 5: 148,506,175 (GRCm38) R105L possibly damaging Het
Ubl7 A T 9: 57,914,584 (GRCm38) D72V probably damaging Het
Wdr55 T C 18: 36,762,023 (GRCm38) S81P probably damaging Het
Wtip T C 7: 34,116,619 (GRCm38) Y344C probably damaging Het
Zfp488 A G 14: 33,970,400 (GRCm38) S269P possibly damaging Het
Zkscan2 A C 7: 123,499,862 (GRCm38) S36A probably benign Het
Other mutations in Naa11
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4469001:Naa11 UTSW 5 97,391,626 (GRCm38) critical splice donor site probably null
R2567:Naa11 UTSW 5 97,391,759 (GRCm38) missense probably benign
R3686:Naa11 UTSW 5 97,391,789 (GRCm38) missense probably benign 0.00
R4004:Naa11 UTSW 5 97,391,793 (GRCm38) missense probably benign
R6268:Naa11 UTSW 5 97,392,210 (GRCm38) missense probably damaging 1.00
R8310:Naa11 UTSW 5 97,391,878 (GRCm38) missense probably damaging 1.00
R8701:Naa11 UTSW 5 97,391,958 (GRCm38) missense possibly damaging 0.95
R8715:Naa11 UTSW 5 97,392,207 (GRCm38) missense probably damaging 1.00
R8958:Naa11 UTSW 5 97,392,225 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGCCAAGCTATGACTCAAAGG -3'
(R):5'- TGCACGTCAGGAAGAGCAAC -3'

Sequencing Primer
(F):5'- CCAAGCTATGACTCAAAGGGGTAC -3'
(R):5'- AGAGCAACAGGGCGGCC -3'
Posted On 2019-11-12