Incidental Mutation 'R0626:Naca'
ID 57516
Institutional Source Beutler Lab
Gene Symbol Naca
Ensembl Gene ENSMUSG00000061315
Gene Name nascent polypeptide-associated complex alpha polypeptide
Synonyms LOC380777, skNAC
MMRRC Submission 038815-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.734) question?
Stock # R0626 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 127871444-127884506 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to G at 127877031 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: T688A
SMART Domains Protein: ENSMUSP00000089680
Gene: ENSMUSG00000061315
AA Change: T688A

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: 99.4%
  • 3x: 99.0%
  • 10x: 97.9%
  • 20x: 96.2%
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: 108 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik T C 11: 109,679,547 (GRCm39) probably benign Het
6430571L13Rik T A 9: 107,219,707 (GRCm39) D53E possibly damaging Het
A2ml1 T A 6: 128,527,736 (GRCm39) N1018I probably damaging Het
Abi3 C A 11: 95,727,937 (GRCm39) A85S probably benign Het
Acsl5 A T 19: 55,272,904 (GRCm39) M340L probably benign Het
Adam29 T A 8: 56,324,612 (GRCm39) H614L probably benign Het
Adgrg6 A T 10: 14,312,628 (GRCm39) S720T probably damaging Het
Adrb2 G T 18: 62,312,441 (GRCm39) A128E probably damaging Het
Afap1l1 T C 18: 61,872,291 (GRCm39) E510G probably benign Het
Angel1 A G 12: 86,764,487 (GRCm39) probably null Het
Aox3 T G 1: 58,211,458 (GRCm39) I1005S possibly damaging Het
Apc C A 18: 34,451,507 (GRCm39) P2767Q probably damaging Het
Apob T G 12: 8,066,193 (GRCm39) D4387E probably benign Het
Apobr T C 7: 126,185,827 (GRCm39) V446A possibly damaging Het
Arhgap28 A T 17: 68,203,108 (GRCm39) probably null Het
Aspm G T 1: 139,419,339 (GRCm39) K3001N probably damaging Het
Asxl3 G T 18: 22,655,937 (GRCm39) V1316F probably benign Het
Atp2a1 T A 7: 126,046,162 (GRCm39) probably null Het
Bach1 A G 16: 87,526,359 (GRCm39) D607G possibly damaging Het
Batf3 A G 1: 190,832,935 (GRCm39) D27G probably damaging Het
Baz1a G T 12: 55,022,055 (GRCm39) Q76K probably damaging Het
Bdnf G A 2: 109,553,883 (GRCm39) V86M probably benign Het
Birc7 A G 2: 180,573,098 (GRCm39) I172V probably benign Het
Bod1l A C 5: 41,988,880 (GRCm39) V409G probably damaging Het
Cacna1e T A 1: 154,364,563 (GRCm39) E337V probably damaging Het
Cacna1h A G 17: 25,612,520 (GRCm39) F287L possibly damaging Het
Ces1e A G 8: 93,950,671 (GRCm39) Y37H probably benign Het
Clasrp A T 7: 19,318,418 (GRCm39) probably benign Het
Clec2d T A 6: 129,160,090 (GRCm39) S35T probably damaging Het
Cntn4 T A 6: 106,639,539 (GRCm39) D556E probably benign Het
Cntnap5c A T 17: 58,349,422 (GRCm39) D245V probably benign Het
Col5a1 T A 2: 27,818,255 (GRCm39) L160* probably null Het
Col6a6 T C 9: 105,654,943 (GRCm39) E926G probably benign Het
Cpsf2 T A 12: 101,951,490 (GRCm39) H142Q probably benign Het
Cr2 A C 1: 194,853,419 (GRCm39) S20A possibly damaging Het
Ct45a G A X: 55,590,399 (GRCm39) P134L probably benign Het
Cyp2j5 A T 4: 96,547,749 (GRCm39) H164Q probably benign Het
D430041D05Rik G C 2: 103,998,295 (GRCm39) P1836R probably damaging Het
Dmbt1 G A 7: 130,703,811 (GRCm39) V1124M probably damaging Het
Dmxl2 T C 9: 54,323,838 (GRCm39) H1182R probably damaging Het
Dnah2 A T 11: 69,368,509 (GRCm39) S1709T probably benign Het
Dop1b T C 16: 93,560,844 (GRCm39) V776A probably damaging Het
Emc3 T C 6: 113,492,992 (GRCm39) T220A probably benign Het
Entpd1 A C 19: 40,715,769 (GRCm39) N312T probably benign Het
Fam8a1 A T 13: 46,824,699 (GRCm39) I229F probably damaging Het
Fancc G A 13: 63,465,205 (GRCm39) P501S probably damaging Het
Fasn T C 11: 120,702,751 (GRCm39) R1704G probably damaging Het
Fsip2 A G 2: 82,819,302 (GRCm39) I5012V probably benign Het
Glce T C 9: 61,968,282 (GRCm39) T290A probably benign Het
Gns G A 10: 121,219,349 (GRCm39) probably null Het
Gsdma2 A G 11: 98,542,810 (GRCm39) N190S probably damaging Het
Hectd4 T A 5: 121,415,887 (GRCm39) S563T probably benign Het
Hmcn1 T C 1: 150,674,470 (GRCm39) probably null Het
Jup A T 11: 100,267,589 (GRCm39) M578K probably benign Het
Kir3dl1 G A X: 135,434,594 (GRCm39) probably null Het
Krt75 A G 15: 101,482,025 (GRCm39) F81S probably benign Het
Lrp1 G T 10: 127,403,233 (GRCm39) D2113E probably damaging Het
Maged2 T A X: 149,594,830 (GRCm39) N176Y probably damaging Het
Mrc1 T A 2: 14,333,382 (GRCm39) C1354* probably null Het
Mup7 A C 4: 60,069,742 (GRCm39) V74G possibly damaging Het
Nav3 T G 10: 109,659,325 (GRCm39) Y764S probably damaging Het
Nkpd1 A T 7: 19,257,099 (GRCm39) T293S probably benign Het
Numb A G 12: 83,842,614 (GRCm39) Y510H probably damaging Het
Nynrin T G 14: 56,105,492 (GRCm39) L834R probably damaging Het
Or11g27 T C 14: 50,771,159 (GRCm39) S97P possibly damaging Het
Or2ak5 G T 11: 58,611,347 (GRCm39) H176N probably benign Het
Or8g18 T A 9: 39,149,162 (GRCm39) N186I possibly damaging Het
Otog T C 7: 45,920,797 (GRCm39) V1000A possibly damaging Het
Pafah1b3 A G 7: 24,996,554 (GRCm39) V43A possibly damaging Het
Pcnx1 A G 12: 82,030,450 (GRCm39) Y1775C possibly damaging Het
Phka1 G A X: 101,564,437 (GRCm39) R1074C probably damaging Het
Pi4ka T A 16: 17,111,765 (GRCm39) Y1570F probably benign Het
Piezo2 T C 18: 63,152,329 (GRCm39) K2588E probably damaging Het
Pkd1 A G 17: 24,794,549 (GRCm39) T2079A probably damaging Het
Plekhd1 G T 12: 80,764,075 (GRCm39) Q212H probably damaging Het
Plekhh1 C T 12: 79,087,359 (GRCm39) R16* probably null Het
Polm C A 11: 5,786,207 (GRCm39) R120L probably damaging Het
Ptpn22 T C 3: 103,767,721 (GRCm39) M1T probably null Het
Ptprh G A 7: 4,567,271 (GRCm39) L534F probably benign Het
Rabl6 C T 2: 25,482,778 (GRCm39) probably null Het
Rap2a A G 14: 120,716,403 (GRCm39) S89G probably damaging Het
Rara A T 11: 98,862,406 (GRCm39) probably null Het
Reck A G 4: 43,930,295 (GRCm39) D623G probably benign Het
Relt A T 7: 100,498,023 (GRCm39) L237Q probably damaging Het
Rngtt A G 4: 33,329,598 (GRCm39) probably null Het
Rtn4rl2 T G 2: 84,710,763 (GRCm39) Y167S probably damaging Het
Sec24c C T 14: 20,738,505 (GRCm39) R353C probably damaging Het
Slc35g2 T C 9: 100,435,495 (GRCm39) S59G probably benign Het
Smarcd2 A T 11: 106,158,241 (GRCm39) M107K probably benign Het
Smg1 T C 7: 117,781,606 (GRCm39) N1227S possibly damaging Het
Snrnp200 A G 2: 127,063,734 (GRCm39) N638D possibly damaging Het
Sntb1 A G 15: 55,506,179 (GRCm39) S465P probably benign Het
Sp4 A G 12: 118,263,314 (GRCm39) L244P probably damaging Het
Sulf1 A G 1: 12,887,716 (GRCm39) probably null Het
Tbc1d17 T C 7: 44,492,509 (GRCm39) T385A probably benign Het
Tbx10 C A 19: 4,047,873 (GRCm39) D206E probably benign Het
Tcea2 C T 2: 181,329,431 (GRCm39) P275S probably damaging Het
Tns3 C A 11: 8,443,121 (GRCm39) R414L probably benign Het
Trip11 T C 12: 101,852,235 (GRCm39) R610G possibly damaging Het
Ugt2b1 T C 5: 87,073,720 (GRCm39) K213R probably null Het
Unc80 A G 1: 66,647,601 (GRCm39) S1514G probably benign Het
Usp7 G T 16: 8,511,778 (GRCm39) Q867K possibly damaging Het
Vim T C 2: 13,579,463 (GRCm39) V74A probably benign Het
Vmn1r234 A G 17: 21,450,007 (GRCm39) Y307C probably benign Het
Vmn2r74 A T 7: 85,610,517 (GRCm39) Y58* probably null Het
Wdr36 C A 18: 32,983,584 (GRCm39) A445E probably damaging Het
Xpo5 T A 17: 46,532,359 (GRCm39) W465R probably damaging Het
Zscan4d T A 7: 10,898,946 (GRCm39) R110S probably damaging 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
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
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'- GGCATTGTCCCCTGAAATTCCCAAG -3'
(R):5'- GACTGCTGAGATCAGTCTGGAAGC -3'

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