Incidental Mutation 'R6156:Naca'
ID 489601
Institutional Source Beutler Lab
Gene Symbol Naca
Ensembl Gene ENSMUSG00000061315
Gene Name nascent polypeptide-associated complex alpha polypeptide
Synonyms LOC380777, skNAC
MMRRC Submission 044303-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.734) question?
Stock # R6156 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 127871444-127884506 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 127875160 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000073532 (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 unknown
Transcript: ENSMUST00000092048
AA Change: L64P
SMART Domains Protein: ENSMUSP00000089680
Gene: ENSMUSG00000061315
AA Change: L64P

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: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.9%
Validation Efficiency 97% (68/70)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 T G 15: 64,689,488 (GRCm39) probably null Het
Ank2 T C 3: 126,737,886 (GRCm39) D2579G probably damaging Het
Atp6v1b1 G C 6: 83,735,115 (GRCm39) G423R probably damaging Het
B4galnt3 T C 6: 120,191,801 (GRCm39) N644S probably benign Het
Bhmt1b C A 18: 87,775,231 (GRCm39) Y251* probably null Het
Capsl T G 15: 9,465,920 (GRCm39) M132R probably damaging Het
Cep120 A G 18: 53,836,295 (GRCm39) Y797H probably benign Het
Cimip4 T C 15: 78,263,013 (GRCm39) T214A probably damaging Het
Clec2e T A 6: 129,072,061 (GRCm39) D106V possibly damaging Het
Col6a2 C T 10: 76,440,004 (GRCm39) V634I possibly damaging Het
Dis3 T C 14: 99,336,215 (GRCm39) E97G probably benign Het
Dlec1 T C 9: 118,939,281 (GRCm39) probably null Het
Dock2 C A 11: 34,197,789 (GRCm39) V1484F possibly damaging Het
Ephb2 T A 4: 136,388,816 (GRCm39) M593L probably benign Het
Fcgrt T C 7: 44,751,484 (GRCm39) T125A probably benign Het
Gabbr1 T C 17: 37,359,319 (GRCm39) I98T probably benign Het
Gbp10 G A 5: 105,384,015 (GRCm39) probably benign Het
Gfod1 T C 13: 43,354,514 (GRCm39) S154G possibly damaging Het
Ggt5 C T 10: 75,445,160 (GRCm39) T389I probably damaging Het
Got2 A G 8: 96,598,896 (GRCm39) F169L probably benign Het
Gse1 A G 8: 121,215,866 (GRCm39) K5E possibly damaging Het
Hyal5 T C 6: 24,891,437 (GRCm39) I417T possibly damaging Het
Igkv4-91 G T 6: 68,745,607 (GRCm39) T97K probably damaging Het
Il4i1 T C 7: 44,489,608 (GRCm39) Y458H possibly damaging Het
Impg1 A T 9: 80,230,106 (GRCm39) C740S probably damaging Het
Itgb1 C G 8: 129,458,535 (GRCm39) T788R possibly damaging Het
Lman2l A G 1: 36,477,907 (GRCm39) V143A probably damaging Het
Ltbp4 G T 7: 27,029,587 (GRCm39) T136K unknown Het
Macf1 A G 4: 123,366,073 (GRCm39) I1331T probably benign Het
Mmp11 G A 10: 75,762,325 (GRCm39) A336V probably damaging Het
Myh2 A T 11: 67,071,879 (GRCm39) I536F probably damaging Het
Myh4 A G 11: 67,141,618 (GRCm39) M826V probably benign Het
Nr4a2 A G 2: 57,002,364 (GRCm39) Y30H probably damaging Het
Or12j4 A G 7: 140,046,758 (GRCm39) T215A probably benign Het
Or1e35 A T 11: 73,797,447 (GRCm39) Y290* probably null Het
Or2n1d T A 17: 38,646,064 (GRCm39) N5K probably damaging Het
Or4a67 T A 2: 88,597,934 (GRCm39) I242L probably benign Het
Or4f14d A T 2: 111,960,445 (GRCm39) L237Q probably damaging Het
Or4k42 A T 2: 111,320,095 (GRCm39) M136K probably damaging Het
Or4z4 A G 19: 12,076,484 (GRCm39) V173A possibly damaging Het
Or8g22 T A 9: 38,958,671 (GRCm39) M15L possibly damaging Het
Paqr3 A C 5: 97,256,128 (GRCm39) L82R probably damaging Het
Pex6 C T 17: 47,031,567 (GRCm39) P456S probably benign Het
Pih1d2 A T 9: 50,532,452 (GRCm39) K186I possibly damaging Het
Plekhh3 A G 11: 101,061,013 (GRCm39) probably benign Het
Ptpn23 C A 9: 110,216,849 (GRCm39) probably benign Het
Rcor3 T A 1: 191,812,142 (GRCm39) probably benign Het
Rgs11 T A 17: 26,429,439 (GRCm39) Y403* probably null Het
Scn10a T C 9: 119,464,649 (GRCm39) N984D probably benign Het
Snx14 C T 9: 88,289,392 (GRCm39) A287T possibly damaging Het
Stx3 T C 19: 11,780,874 (GRCm39) D33G probably damaging Het
Tacc2 A G 7: 130,227,494 (GRCm39) K1393R probably damaging Het
Tas2r129 T C 6: 132,928,455 (GRCm39) S131P probably benign Het
Tbx15 G T 3: 99,220,431 (GRCm39) probably null Het
Thada A G 17: 84,700,795 (GRCm39) V1237A probably damaging Het
Tnc A G 4: 63,888,589 (GRCm39) Y1735H probably damaging Het
Ttc22 A G 4: 106,495,780 (GRCm39) K378R probably benign Het
Tubg2 A G 11: 101,051,635 (GRCm39) K287E possibly damaging Het
Ugt3a1 T C 15: 9,310,762 (GRCm39) I348T possibly damaging Het
Unc79 A G 12: 103,027,717 (GRCm39) N436S probably damaging Het
Unc80 A T 1: 66,651,409 (GRCm39) I1585F probably benign Het
Vmn2r104 T C 17: 20,261,909 (GRCm39) Y407C probably damaging Het
Vmn2r108 T A 17: 20,692,447 (GRCm39) L136F probably benign Het
Vmn2r38 A G 7: 9,097,611 (GRCm39) S161P probably damaging Het
Vmn2r90 T C 17: 17,953,606 (GRCm39) I590T probably benign Het
Washc5 T C 15: 59,217,248 (GRCm39) E323G probably damaging Het
Wdhd1 C T 14: 47,505,653 (GRCm39) G273D probably damaging Het
Xpo6 G T 7: 125,708,016 (GRCm39) Q851K probably damaging Het
Zfp386 T C 12: 116,023,526 (GRCm39) S380P probably damaging Het
Zfp536 A G 7: 37,173,281 (GRCm39) C274R unknown Het
Zfp64 A G 2: 168,768,088 (GRCm39) I508T 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
R0885:Naca UTSW 10 127,876,048 (GRCm39) nonsense probably null
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
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'- AACTTGGGCTGCACAACTCAC -3'
(R):5'- GCACCTTTCTGAGCTAGACC -3'

Sequencing Primer
(F):5'- GGGCTGCACAACTCACCTTTTC -3'
(R):5'- TCTGAGCTAGACCTATCATGGGAG -3'
Posted On 2017-10-10