Incidental Mutation 'IGL02148:Naca'
ID281846
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Naca
Ensembl Gene ENSMUSG00000061315
Gene Namenascent polypeptide-associated complex alpha polypeptide
SynonymsLOC380777, skNAC
Accession Numbers

Genbank: NM_013608; MGI: 106095 ; Ensembl: ENSMUST00000092048

Is this an essential gene? Probably essential (E-score: 0.848) question?
Stock #IGL02148
Quality Score
Status
Chromosome10
Chromosomal Location128035575-128048637 bp(+) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) C to T at 128043884 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000073532 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073868] [ENSMUST00000092048]
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: T1595I
SMART Domains Protein: ENSMUSP00000089680
Gene: ENSMUSG00000061315
AA Change: T1595I

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024P04Rik A T 13: 98,984,183 F112I probably damaging Het
Akna C T 4: 63,382,479 probably benign Het
AU040320 T C 4: 126,839,676 V663A possibly damaging Het
Cdh13 A G 8: 119,198,958 D355G probably damaging Het
Cdyl2 A G 8: 116,589,244 probably benign Het
Csnk1g3 C T 18: 53,953,288 R422C probably benign Het
D430042O09Rik A T 7: 125,873,476 probably null Het
Dclk1 T A 3: 55,500,099 V233D probably damaging Het
Ddx59 T C 1: 136,433,827 S477P probably damaging Het
Epb41l1 A T 2: 156,511,828 probably benign Het
Epha2 T C 4: 141,318,524 L453P probably damaging Het
Esco2 T C 14: 65,826,595 H380R probably benign Het
Fbxo38 T C 18: 62,536,227 M51V probably benign Het
Fgb T C 3: 83,043,287 M387V probably damaging Het
Fryl A G 5: 73,075,959 L1522S probably benign Het
Gdf9 T A 11: 53,436,742 M175K probably benign Het
Gm13023 T A 4: 143,792,734 Y22N probably benign Het
Gm20547 C T 17: 34,860,548 D243N probably benign Het
Gramd1b T A 9: 40,315,764 D299V probably damaging Het
Gsg1l G T 7: 125,923,499 Q186K possibly damaging Het
Kcnh5 A G 12: 74,897,652 L941P possibly damaging Het
Lrrc8d A G 5: 105,812,387 D221G possibly damaging Het
Med19 T C 2: 84,685,259 F96L probably damaging Het
Mei1 C A 15: 82,092,711 S589* probably null Het
Myh15 G T 16: 49,116,315 D708Y probably damaging Het
Olfr1173 A T 2: 88,274,222 Y276N possibly damaging Het
Otog G A 7: 46,300,587 C306Y probably damaging Het
Phldb1 T C 9: 44,696,072 K1279E probably damaging Het
Pkd1 C T 17: 24,579,836 T369I probably damaging Het
Plekha8 A G 6: 54,615,286 S32G probably damaging Het
Sema4g A G 19: 44,996,469 T113A probably damaging Het
Setdb2 C T 14: 59,402,315 R709Q probably damaging Het
Sh3rf3 T C 10: 59,086,740 M546T probably benign Het
Slc27a5 A G 7: 12,994,951 V328A probably damaging Het
Spef1 T C 2: 131,172,768 N78S probably benign Het
Tln1 T C 4: 43,555,388 T179A probably damaging Het
Tmc5 T C 7: 118,645,324 I475T probably damaging Het
Top2b A G 14: 16,400,488 Y621C probably damaging Het
Ttf1 T C 2: 29,079,426 F727L probably benign Het
Tufm T C 7: 126,489,160 L75P probably damaging Het
Ugt1a2 T A 1: 88,201,074 D146E probably damaging Het
Usp15 G A 10: 123,127,837 T533I probably damaging Het
Vmn1r113 A G 7: 20,787,822 T180A probably benign Het
Vmn1r205 G T 13: 22,592,225 P236T probably damaging Het
Vmn2r112 T G 17: 22,619,032 C825G probably damaging Het
Zfp712 T A 13: 67,042,158 I102F probably damaging Het
Other mutations in Naca
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00909:Naca APN 10 128041682 intron probably benign
IGL00990:Naca APN 10 128043800 intron probably benign
IGL01093:Naca APN 10 128048113 missense probably damaging 0.99
IGL01356:Naca APN 10 128041715 intron probably benign
IGL01548:Naca APN 10 128040904 intron probably benign
IGL02089:Naca APN 10 128036489 splice site probably benign
IGL02494:Naca APN 10 128041310 intron probably benign
IGL02672:Naca APN 10 128040283 intron probably benign
IGL02822:Naca APN 10 128039345 intron probably benign
IGL02904:Naca APN 10 128043290 intron probably benign
IGL02931:Naca APN 10 128047682 missense probably damaging 1.00
IGL02971:Naca APN 10 128041568 intron probably benign
IGL03104:Naca APN 10 128040364 intron probably benign
Sinewy UTSW 10 128048358 missense probably damaging 1.00
D4216:Naca UTSW 10 128044240 missense possibly damaging 0.73
P0042:Naca UTSW 10 128041553 intron probably benign
R0110:Naca UTSW 10 128044790 missense probably benign 0.13
R0220:Naca UTSW 10 128043386 intron probably benign
R0469:Naca UTSW 10 128044790 missense probably benign 0.13
R0528:Naca UTSW 10 128043293 missense probably benign 0.23
R0594:Naca UTSW 10 128040355 intron probably benign
R0626:Naca UTSW 10 128041162 intron probably benign
R0885:Naca UTSW 10 128040179 nonsense probably null
R1129:Naca UTSW 10 128040202 intron probably benign
R1437:Naca UTSW 10 128042179 intron probably benign
R1464:Naca UTSW 10 128048288 missense probably damaging 0.96
R1464:Naca UTSW 10 128048288 missense probably damaging 0.96
R1509:Naca UTSW 10 128043397 intron probably benign
R1561:Naca UTSW 10 128040398 intron probably benign
R1574:Naca UTSW 10 128040398 intron probably benign
R1678:Naca UTSW 10 128043526 intron probably benign
R1901:Naca UTSW 10 128043721 intron probably benign
R2884:Naca UTSW 10 128041678 intron probably benign
R2886:Naca UTSW 10 128041678 intron probably benign
R3176:Naca UTSW 10 128040661 intron probably benign
R3276:Naca UTSW 10 128040661 intron probably benign
R4227:Naca UTSW 10 128041661 intron probably benign
R4388:Naca UTSW 10 128044792 missense probably damaging 0.99
R4402:Naca UTSW 10 128043472 intron probably benign
R4798:Naca UTSW 10 128047803 missense probably null 0.99
R4955:Naca UTSW 10 128042215 intron probably benign
R4996:Naca UTSW 10 128042429 intron probably benign
R5027:Naca UTSW 10 128048121 missense possibly damaging 0.63
R5580:Naca UTSW 10 128040593 intron probably benign
R5752:Naca UTSW 10 128041928 intron probably benign
R5788:Naca UTSW 10 128040142 intron probably benign
R6156:Naca UTSW 10 128039291 intron probably benign
R6227:Naca UTSW 10 128043916 intron probably benign
R6317:Naca UTSW 10 128044124 missense probably benign 0.33
R6665:Naca UTSW 10 128048358 missense probably damaging 1.00
R7170:Naca UTSW 10 128040121 missense unknown
R7247:Naca UTSW 10 128042598 missense unknown
X0053:Naca UTSW 10 128048255 missense probably damaging 0.98
Posted On2015-04-16