Incidental Mutation 'R1574:Naca'
ID 171043
Institutional Source Beutler Lab
Gene Symbol Naca
Ensembl Gene ENSMUSG00000061315
Gene Name nascent polypeptide-associated complex alpha polypeptide
Synonyms LOC380777, skNAC
MMRRC Submission 045014-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.734) question?
Stock # R1574 (G1)
Quality Score 143
Status Not validated
Chromosome 10
Chromosomal Location 127871444-127884506 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) G to T at 127876267 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: G433V
SMART Domains Protein: ENSMUSP00000089680
Gene: ENSMUSG00000061315
AA Change: G433V

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: 98.3%
  • 3x: 96.3%
  • 10x: 84.0%
  • 20x: 52.1%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 T A 5: 81,935,296 (GRCm39) N1276K probably damaging Het
Als2cl A G 9: 110,713,128 (GRCm39) E6G probably damaging Het
Ankrd12 A T 17: 66,293,269 (GRCm39) D721E probably benign Het
Anpep A G 7: 79,488,155 (GRCm39) probably null Het
Apob A T 12: 8,040,839 (GRCm39) I655L possibly damaging Het
Atp2b1 T A 10: 98,832,810 (GRCm39) L437Q probably damaging Het
Cacna2d3 T A 14: 29,073,779 (GRCm39) R222S probably damaging Het
Cenpf C T 1: 189,384,910 (GRCm39) D2457N probably damaging Het
Cenpo A T 12: 4,265,433 (GRCm39) probably null Het
Ces2b G T 8: 105,562,521 (GRCm39) A284S probably benign Het
Clock T C 5: 76,390,679 (GRCm39) D311G probably damaging Het
Csmd3 T C 15: 47,559,257 (GRCm39) probably null Het
D430041D05Rik GTGATGATGATGATGATGATG GTGATGATGATGATGATG 2: 104,051,553 (GRCm39) probably benign Het
Dbil5 A G 11: 76,109,308 (GRCm39) M71V probably benign Het
Ddhd1 A C 14: 45,833,004 (GRCm39) L864R probably damaging Het
Dnah11 A G 12: 118,024,052 (GRCm39) C1900R probably damaging Het
Dnah2 A G 11: 69,405,514 (GRCm39) V666A probably benign Het
Dnah5 T A 15: 28,252,569 (GRCm39) M754K probably benign Het
Dnajc15 A T 14: 78,063,854 (GRCm39) S145T probably benign Het
Drap1 A G 19: 5,474,285 (GRCm39) F25S probably damaging Het
Fam83e G A 7: 45,376,135 (GRCm39) E283K probably damaging Het
Fbxo48 G T 11: 16,903,368 (GRCm39) probably benign Het
Fndc3a A T 14: 72,793,997 (GRCm39) I892N probably damaging Het
Gcn1 A G 5: 115,753,611 (GRCm39) T2321A probably benign Het
Greb1l A G 18: 10,554,997 (GRCm39) D1681G possibly damaging Het
Hmcn2 A C 2: 31,294,899 (GRCm39) T2563P probably damaging Het
Iqcd A T 5: 120,738,300 (GRCm39) K39N probably damaging Het
Kank2 A G 9: 21,685,871 (GRCm39) S668P probably damaging Het
Kcng1 T A 2: 168,110,961 (GRCm39) N68Y probably damaging Het
Kmt5b T A 19: 3,836,633 (GRCm39) probably null Het
Lama2 T A 10: 27,200,750 (GRCm39) I533F possibly damaging Het
Lcmt1 T A 7: 123,002,131 (GRCm39) I132N probably damaging Het
Mcph1 T C 8: 18,851,428 (GRCm39) I807T probably damaging Het
Mdn1 A G 4: 32,722,315 (GRCm39) I2366V probably benign Het
Moxd1 T C 10: 24,176,217 (GRCm39) W558R probably damaging Het
Mtus2 A C 5: 148,013,362 (GRCm39) K52Q probably benign Het
Myrf T C 19: 10,202,851 (GRCm39) D141G probably damaging Het
Ncoa7 T C 10: 30,570,097 (GRCm39) I249M probably damaging Het
Obox5 T C 7: 15,492,558 (GRCm39) V171A probably damaging Het
Or13e8 A T 4: 43,697,134 (GRCm39) V13D possibly damaging Het
Or13p3 T A 4: 118,566,751 (GRCm39) I49N probably damaging Het
Or2c1 T C 16: 3,657,521 (GRCm39) I228T probably damaging Het
Or5ak20 A T 2: 85,184,243 (GRCm39) V9E probably damaging Het
Or6c219 A G 10: 129,781,379 (GRCm39) L69P probably damaging Het
Or7a36 C A 10: 78,819,820 (GRCm39) N32K probably damaging Het
Parp4 A G 14: 56,839,752 (GRCm39) T487A probably damaging Het
Pclo A G 5: 14,729,845 (GRCm39) probably benign Het
Pcnx2 G A 8: 126,500,669 (GRCm39) R1474C probably damaging Het
Pkd1l3 A G 8: 110,341,445 (GRCm39) I99M unknown Het
Ruvbl1 T C 6: 88,456,136 (GRCm39) V70A probably damaging Het
Sart1 G A 19: 5,430,287 (GRCm39) P788L probably damaging Het
Sdk1 A G 5: 141,984,634 (GRCm39) T740A probably benign Het
Serpinb1c T C 13: 33,072,979 (GRCm39) D61G possibly damaging Het
Sfi1 TCGC TC 11: 3,096,254 (GRCm39) probably null Het
Slc24a5 G A 2: 124,922,782 (GRCm39) G152S probably damaging Het
Slc6a4 A T 11: 76,910,022 (GRCm39) I426F possibly damaging Het
Srsf4 T A 4: 131,625,006 (GRCm39) D134E probably damaging Het
Stk33 C T 7: 108,879,027 (GRCm39) V441I probably benign Het
Sult1c2 A G 17: 54,143,927 (GRCm39) probably null Het
Tdpoz4 T A 3: 93,703,835 (GRCm39) V44E probably benign Het
Tdrd6 G A 17: 43,936,515 (GRCm39) S1511L probably damaging Het
Tmprss13 C A 9: 45,254,529 (GRCm39) T432K probably damaging Het
Traf7 A G 17: 24,729,527 (GRCm39) L428P probably damaging Het
Tubb1 T C 2: 174,299,215 (GRCm39) I299T probably benign Het
Vmn1r158 A T 7: 22,489,772 (GRCm39) W146R probably damaging Het
Vmn1r42 A G 6: 89,822,059 (GRCm39) I170T possibly damaging Het
Vmn1r42 C T 6: 89,822,363 (GRCm39) G69S probably damaging Het
Vmn2r116 A T 17: 23,606,063 (GRCm39) H325L probably damaging Het
Zfp516 T A 18: 83,011,300 (GRCm39) L1111H possibly damaging Het
Zfp61 C G 7: 23,990,635 (GRCm39) K505N probably damaging Het
Zfp653 C A 9: 21,969,274 (GRCm39) E331* probably null Het
Zfp949 A T 9: 88,451,830 (GRCm39) K467* probably null 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
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'- ACAGCCTTTGGTGACTCAAGTTCC -3'
(R):5'- TGACACAAGAATCTGCCCTGATGAC -3'

Sequencing Primer
(F):5'- GTTCCCGCTTCTCAAAAAACTGG -3'
(R):5'- CTCCAGAGATGATGCACTCTGAG -3'
Posted On 2014-04-13