Incidental Mutation 'R0885:Naca'
ID 81183
Institutional Source Beutler Lab
Gene Symbol Naca
Ensembl Gene ENSMUSG00000061315
Gene Name nascent polypeptide-associated complex alpha polypeptide
Synonyms LOC380777, skNAC
MMRRC Submission 039052-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.734) question?
Stock # R0885 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 127871444-127884506 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 127876048 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Stop codon at position 360 (S360*)
Ref Sequence ENSEMBL: ENSMUSP00000089680 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073868] [ENSMUST00000092048]
AlphaFold P70670
Predicted Effect probably benign
Transcript: ENSMUST00000073868
SMART Domains Protein: ENSMUSP00000073532
Gene: ENSMUSG00000061315

DomainStartEndE-ValueType
low complexity region 44 57 N/A INTRINSIC
Pfam:NAC 73 130 3.9e-27 PFAM
low complexity region 157 178 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000092048
AA Change: S360*
SMART Domains Protein: ENSMUSP00000089680
Gene: ENSMUSG00000061315
AA Change: S360*

DomainStartEndE-ValueType
low complexity region 61 72 N/A INTRINSIC
low complexity region 105 117 N/A INTRINSIC
low complexity region 128 142 N/A INTRINSIC
low complexity region 516 533 N/A INTRINSIC
low complexity region 704 718 N/A INTRINSIC
low complexity region 937 954 N/A INTRINSIC
low complexity region 976 998 N/A INTRINSIC
low complexity region 1174 1195 N/A INTRINSIC
low complexity region 1349 1370 N/A INTRINSIC
low complexity region 1489 1504 N/A INTRINSIC
low complexity region 1572 1593 N/A INTRINSIC
low complexity region 1636 1670 N/A INTRINSIC
low complexity region 1714 1727 N/A INTRINSIC
low complexity region 1806 1827 N/A INTRINSIC
low complexity region 1889 1926 N/A INTRINSIC
low complexity region 1943 1957 N/A INTRINSIC
low complexity region 1972 1986 N/A INTRINSIC
low complexity region 2016 2029 N/A INTRINSIC
Pfam:NAC 2045 2101 1.7e-25 PFAM
low complexity region 2129 2150 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 96.9%
  • 20x: 92.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that associates with basic transcription factor 3 (BTF3) to form the nascent polypeptide-associated complex (NAC). This complex binds to nascent proteins that lack a signal peptide motif as they emerge from the ribosome, blocking interaction with the signal recognition particle (SRP) and preventing mistranslocation to the endoplasmic reticulum. This protein is an IgE autoantigen in atopic dermatitis patients. Alternative splicing results in multiple transcript variants, but the full length nature of some of these variants, including those encoding very large proteins, has not been determined. There are multiple pseudogenes of this gene on different chromosomes. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a point mutation exhibit decreased bone volume and bone formation associated with accelerated mineralization and immature woven-bone formation. Mice null for the muscle specific isoform die during organogenesis with cardiac abnormalities. [provided by MGI curators]
Allele List at MGI

All alleles(156) : Targeted, other(1) Gene trapped(155)

Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020L13Rik T A 7: 29,980,094 (GRCm39) Y46* probably null Het
Adam18 T C 8: 25,141,802 (GRCm39) K256E probably damaging Het
Adam20 T A 8: 41,249,595 (GRCm39) H568Q probably benign Het
Ambp A G 4: 63,069,705 (GRCm39) L107P probably damaging Het
Art1 T C 7: 101,756,541 (GRCm39) F244S probably damaging Het
Asxl2 C A 12: 3,551,458 (GRCm39) L1067I probably damaging Het
Atm T C 9: 53,371,123 (GRCm39) T2242A probably benign Het
Atp2c1 C T 9: 105,298,772 (GRCm39) probably null Het
Bptf A G 11: 106,934,617 (GRCm39) Y2819H probably damaging Het
Caskin1 G A 17: 24,724,668 (GRCm39) R1152H probably damaging Het
Chd7 T A 4: 8,866,432 (GRCm39) L868Q probably damaging Het
Cyp2d40 T C 15: 82,645,116 (GRCm39) E178G unknown Het
Dclk1 G T 3: 55,394,728 (GRCm39) R103S probably damaging Het
Des A G 1: 75,337,374 (GRCm39) T105A probably damaging Het
Ebf3 T C 7: 136,827,613 (GRCm39) T262A probably benign Het
Epha4 A G 1: 77,359,576 (GRCm39) V759A probably damaging Het
Fryl A T 5: 73,246,539 (GRCm39) F1078I probably damaging Het
Il20 T C 1: 130,838,518 (GRCm39) I60V probably benign Het
Kif3c A T 12: 3,415,981 (GRCm39) M1L probably benign Het
Lhfpl5 A T 17: 28,795,011 (GRCm39) I13F probably damaging Het
Lin28b C T 10: 45,257,324 (GRCm39) G218E probably damaging Het
Lrp2 A T 2: 69,312,697 (GRCm39) N2530K possibly damaging Het
Matn2 T A 15: 34,316,751 (GRCm39) F31Y possibly damaging Het
Mcm6 T C 1: 128,276,670 (GRCm39) N307D probably benign Het
Mmp16 A T 4: 18,054,491 (GRCm39) R332S probably benign Het
Mpdz T A 4: 81,287,829 (GRCm39) T477S probably benign Het
Mrgprb3 C A 7: 48,292,844 (GRCm39) G236W probably damaging Het
Mrpl47 T C 3: 32,784,335 (GRCm39) D145G probably damaging Het
Myo6 T C 9: 80,149,503 (GRCm39) S150P probably damaging Het
Or2ak6 C T 11: 58,592,913 (GRCm39) P129S possibly damaging Het
Phip C A 9: 82,757,448 (GRCm39) A1575S probably benign Het
Pip4p1 T C 14: 51,167,763 (GRCm39) E54G probably damaging Het
Plxna2 T C 1: 194,326,864 (GRCm39) M266T probably benign Het
Ppp1r16a C T 15: 76,577,869 (GRCm39) Q328* probably null Het
Prag1 T C 8: 36,570,421 (GRCm39) F335L probably benign Het
Prmt2 A G 10: 76,058,399 (GRCm39) Y137H probably damaging Het
Psme3ip1 C A 8: 95,302,407 (GRCm39) C208F probably damaging Het
Ptgds T C 2: 25,357,357 (GRCm39) D184G possibly damaging Het
Ptpn5 T C 7: 46,738,359 (GRCm39) Y241C probably benign Het
Pxdn G A 12: 30,053,401 (GRCm39) V1193M probably benign Het
Raet1e T A 10: 22,057,986 (GRCm39) probably benign Het
Rttn A G 18: 89,001,934 (GRCm39) D282G probably benign Het
Sis G A 3: 72,819,282 (GRCm39) R1425* probably null Het
Slco2a1 G T 9: 102,959,582 (GRCm39) M559I probably damaging Het
Spata4 C T 8: 55,053,879 (GRCm39) A15V probably damaging Het
Spop T C 11: 95,361,453 (GRCm39) S14P probably benign Het
Tcof1 A T 18: 60,968,922 (GRCm39) D230E possibly damaging Het
Tubgcp5 T A 7: 55,455,803 (GRCm39) L277* probably null Het
Ubxn10 A T 4: 138,447,881 (GRCm39) V265E probably damaging Het
Ugt2b36 T A 5: 87,239,848 (GRCm39) Y179F probably benign Het
Wdr37 A C 13: 8,885,288 (GRCm39) probably null Het
Zfp593 A G 4: 133,972,224 (GRCm39) V94A probably benign Het
Other mutations in Naca
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00909:Naca APN 10 127,877,551 (GRCm39) intron probably benign
IGL00990:Naca APN 10 127,879,669 (GRCm39) intron probably benign
IGL01093:Naca APN 10 127,883,982 (GRCm39) missense probably damaging 0.99
IGL01356:Naca APN 10 127,877,584 (GRCm39) intron probably benign
IGL01548:Naca APN 10 127,876,773 (GRCm39) intron probably benign
IGL02089:Naca APN 10 127,872,358 (GRCm39) splice site probably benign
IGL02148:Naca APN 10 127,879,753 (GRCm39) intron probably benign
IGL02494:Naca APN 10 127,877,179 (GRCm39) intron probably benign
IGL02672:Naca APN 10 127,876,152 (GRCm39) intron probably benign
IGL02822:Naca APN 10 127,875,214 (GRCm39) intron probably benign
IGL02904:Naca APN 10 127,879,159 (GRCm39) intron probably benign
IGL02931:Naca APN 10 127,883,551 (GRCm39) missense probably damaging 1.00
IGL02971:Naca APN 10 127,877,437 (GRCm39) intron probably benign
IGL03104:Naca APN 10 127,876,233 (GRCm39) intron probably benign
Sinewy UTSW 10 127,884,227 (GRCm39) missense probably damaging 1.00
D4216:Naca UTSW 10 127,880,109 (GRCm39) missense possibly damaging 0.73
P0042:Naca UTSW 10 127,877,422 (GRCm39) intron probably benign
R0110:Naca UTSW 10 127,880,659 (GRCm39) missense probably benign 0.13
R0220:Naca UTSW 10 127,879,255 (GRCm39) intron probably benign
R0469:Naca UTSW 10 127,880,659 (GRCm39) missense probably benign 0.13
R0528:Naca UTSW 10 127,879,162 (GRCm39) missense probably benign 0.23
R0594:Naca UTSW 10 127,876,224 (GRCm39) intron probably benign
R0626:Naca UTSW 10 127,877,031 (GRCm39) intron probably benign
R1129:Naca UTSW 10 127,876,071 (GRCm39) intron probably benign
R1437:Naca UTSW 10 127,878,048 (GRCm39) intron probably benign
R1464:Naca UTSW 10 127,884,157 (GRCm39) missense probably damaging 0.96
R1464:Naca UTSW 10 127,884,157 (GRCm39) missense probably damaging 0.96
R1509:Naca UTSW 10 127,879,266 (GRCm39) intron probably benign
R1561:Naca UTSW 10 127,876,267 (GRCm39) intron probably benign
R1574:Naca UTSW 10 127,876,267 (GRCm39) intron probably benign
R1678:Naca UTSW 10 127,879,395 (GRCm39) intron probably benign
R1901:Naca UTSW 10 127,879,590 (GRCm39) intron probably benign
R2884:Naca UTSW 10 127,877,547 (GRCm39) intron probably benign
R2886:Naca UTSW 10 127,877,547 (GRCm39) intron probably benign
R3176:Naca UTSW 10 127,876,530 (GRCm39) intron probably benign
R3276:Naca UTSW 10 127,876,530 (GRCm39) intron probably benign
R4227:Naca UTSW 10 127,877,530 (GRCm39) intron probably benign
R4388:Naca UTSW 10 127,880,661 (GRCm39) missense probably damaging 0.99
R4402:Naca UTSW 10 127,879,341 (GRCm39) intron probably benign
R4798:Naca UTSW 10 127,883,672 (GRCm39) missense probably null 0.99
R4955:Naca UTSW 10 127,878,084 (GRCm39) intron probably benign
R4996:Naca UTSW 10 127,878,298 (GRCm39) intron probably benign
R5027:Naca UTSW 10 127,883,990 (GRCm39) missense possibly damaging 0.63
R5580:Naca UTSW 10 127,876,462 (GRCm39) intron probably benign
R5752:Naca UTSW 10 127,877,797 (GRCm39) intron probably benign
R5788:Naca UTSW 10 127,876,011 (GRCm39) intron probably benign
R6156:Naca UTSW 10 127,875,160 (GRCm39) intron probably benign
R6227:Naca UTSW 10 127,879,785 (GRCm39) intron probably benign
R6317:Naca UTSW 10 127,879,993 (GRCm39) missense probably benign 0.33
R6665:Naca UTSW 10 127,884,227 (GRCm39) missense probably damaging 1.00
R7170:Naca UTSW 10 127,875,990 (GRCm39) missense unknown
R7247:Naca UTSW 10 127,878,467 (GRCm39) missense unknown
R7632:Naca UTSW 10 127,876,375 (GRCm39) missense unknown
R7826:Naca UTSW 10 127,879,479 (GRCm39) intron probably benign
R7921:Naca UTSW 10 127,878,918 (GRCm39) missense unknown
R8059:Naca UTSW 10 127,876,372 (GRCm39) missense unknown
R8084:Naca UTSW 10 127,877,400 (GRCm39) missense unknown
R8385:Naca UTSW 10 127,878,307 (GRCm39) missense unknown
R8515:Naca UTSW 10 127,880,112 (GRCm39) missense possibly damaging 0.73
R8708:Naca UTSW 10 127,883,943 (GRCm39) missense probably damaging 1.00
R9629:Naca UTSW 10 127,878,226 (GRCm39) missense unknown
X0053:Naca UTSW 10 127,884,124 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TAGTCCACCTGCTCGTAACACTGC -3'
(R):5'- ACAGGGGAAGCTGGGTCTTTACTAC -3'

Sequencing Primer
(F):5'- GCTTGCAGTGAGTAATCCCAC -3'
(R):5'- AGCTGGGTCTTTACTACTCACAAG -3'
Posted On 2013-11-07