Incidental Mutation 'IGL02822:Naca'
ID 361038
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Naca
Ensembl Gene ENSMUSG00000061315
Gene Name nascent polypeptide-associated complex alpha polypeptide
Synonyms LOC380777, skNAC
Accession Numbers
Essential gene? Possibly essential (E-score: 0.734) question?
Stock # IGL02822
Quality Score
Status
Chromosome 10
Chromosomal Location 127871444-127884506 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) C to A at 127875214 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: T82K
SMART Domains Protein: ENSMUSP00000089680
Gene: ENSMUSG00000061315
AA Change: T82K

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
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110057P08Rik T C 16: 88,971,683 (GRCm39) C2R unknown Het
Aldh1a7 A G 19: 20,679,630 (GRCm39) V382A possibly damaging Het
Asap2 T C 12: 21,315,911 (GRCm39) V943A probably damaging Het
Bod1l C T 5: 41,951,688 (GRCm39) V2908M possibly damaging Het
Casd1 C T 6: 4,630,017 (GRCm39) T471I probably damaging Het
Cd200l1 T C 16: 45,262,968 (GRCm39) Y57C probably damaging Het
Col20a1 T C 2: 180,638,600 (GRCm39) Y405H probably damaging Het
Elp1 A G 4: 56,774,520 (GRCm39) probably null Het
Evi5l T C 8: 4,237,248 (GRCm39) I117T probably damaging Het
Fbxw5 A G 2: 25,393,022 (GRCm39) N164S probably benign Het
Fga A G 3: 82,938,789 (GRCm39) E388G probably damaging Het
Fgfr1 A G 8: 26,047,818 (GRCm39) T55A probably benign Het
Gdpd4 T C 7: 97,621,131 (GRCm39) V148A possibly damaging Het
Gsap T A 5: 21,422,442 (GRCm39) V137D probably damaging Het
Hsdl2 A G 4: 59,601,379 (GRCm39) H117R possibly damaging Het
Htr4 T A 18: 62,561,255 (GRCm39) probably benign Het
Ifitm1 T C 7: 140,548,191 (GRCm39) V8A possibly damaging Het
Kdelr1 A G 7: 45,523,288 (GRCm39) probably benign Het
Klra6 G T 6: 129,993,673 (GRCm39) Y199* probably null Het
Matcap1 T C 8: 106,011,330 (GRCm39) Y268C probably damaging Het
Mmp21 C T 7: 133,277,828 (GRCm39) D333N possibly damaging Het
Mocs1 T C 17: 49,746,597 (GRCm39) F189S probably damaging Het
Myo18b C T 5: 112,923,211 (GRCm39) A1849T probably damaging Het
Nbea A T 3: 55,926,868 (GRCm39) H778Q possibly damaging Het
Nlrp4c C T 7: 6,068,726 (GRCm39) P209L probably damaging Het
Or10q1b A G 19: 13,683,019 (GRCm39) D276G probably benign Het
Or14j1 T C 17: 38,146,534 (GRCm39) Y215H possibly damaging Het
Or4a81 A G 2: 89,619,444 (GRCm39) L84P possibly damaging Het
Osbpl9 A G 4: 108,930,118 (GRCm39) S258P probably damaging Het
Pclaf A G 9: 65,808,875 (GRCm39) E108G possibly damaging Het
Pira13 T A 7: 3,819,917 (GRCm39) T549S possibly damaging Het
Pla2r1 C A 2: 60,285,517 (GRCm39) C699F probably damaging Het
Pnkp A G 7: 44,511,848 (GRCm39) Y120C probably damaging Het
Psme4 T A 11: 30,798,204 (GRCm39) probably benign Het
Rad54l2 A G 9: 106,587,606 (GRCm39) S720P probably damaging Het
Rasa1 T C 13: 85,400,633 (GRCm39) H301R probably damaging Het
Spg11 C A 2: 121,905,015 (GRCm39) W1316L probably damaging Het
Ube2t C T 1: 134,901,688 (GRCm39) probably benign Het
Vmn2r94 T A 17: 18,463,882 (GRCm39) I803F 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
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
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
Posted On 2015-12-18