Incidental Mutation 'IGL02494:Naca'
ID295769
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? Possibly essential (E-score: 0.740) question?
Stock #IGL02494
Quality Score
Status
Chromosome10
Chromosomal Location128035575-128048637 bp(+) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) G to A at 128041310 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: G737D
SMART Domains Protein: ENSMUSP00000089680
Gene: ENSMUSG00000061315
AA Change: G737D

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldob C T 4: 49,541,138 C178Y possibly damaging Het
Arg2 A G 12: 79,151,923 R242G probably benign Het
Ash1l T A 3: 89,066,218 L2528* probably null Het
Astn2 T A 4: 65,992,348 M468L probably benign Het
Bglap2 A T 3: 88,377,936 C74* probably null Het
Cand1 A G 10: 119,213,617 V408A probably benign Het
Ccdc14 A G 16: 34,723,414 Y714C probably damaging Het
Ccdc88c C T 12: 100,945,475 G707D probably benign Het
Cdk13 G A 13: 17,739,125 R890* probably null Het
Cep192 A G 18: 67,804,383 E61G probably benign Het
Ctdspl T C 9: 119,037,416 L181P probably damaging Het
Dock7 C T 4: 98,989,234 V442M probably benign Het
Dopey1 T C 9: 86,526,818 V1860A probably damaging Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
Fscn2 G A 11: 120,362,402 V232M probably benign Het
Gemin5 A T 11: 58,121,757 C1458S probably benign Het
Glrb A G 3: 80,845,232 V408A probably benign Het
Gtse1 C T 15: 85,867,503 P299L probably damaging Het
Hcfc1r1 T A 17: 23,674,585 M46K probably damaging Het
Hdc A G 2: 126,594,121 F610S probably benign Het
Hip1 A T 5: 135,444,791 C224* probably null Het
Hsd17b10 G T X: 152,004,234 A241S probably benign Het
Igsf10 G T 3: 59,328,006 Q1585K probably damaging Het
Kat2b T C 17: 53,653,205 Y514H probably damaging Het
Krt78 T C 15: 101,954,051 I58M probably benign Het
Lcat C A 8: 105,941,939 probably benign Het
Nbea T C 3: 55,805,351 K2102E probably benign Het
Ocrl G A X: 47,933,438 D262N probably benign Het
Olfr1272 G A 2: 90,281,951 S208F probably benign Het
Olfr371 C A 8: 85,230,683 L63I possibly damaging Het
Olfr395 A C 11: 73,906,724 I256S possibly damaging Het
Olfr732 A T 14: 50,282,226 V9D probably damaging Het
Patj T A 4: 98,703,987 probably benign Het
Pcdhb17 G A 18: 37,485,294 A46T possibly damaging Het
Phf8 T C X: 151,625,231 V859A probably benign Het
Plec T A 15: 76,176,779 E3054V probably damaging Het
Prr12 C A 7: 45,028,846 K1958N unknown Het
Psmf1 A G 2: 151,741,009 probably null Het
Rsu1 T C 2: 13,217,191 probably null Het
Samm50 T C 15: 84,195,814 V31A probably benign Het
St14 A G 9: 31,108,645 V56A possibly damaging Het
Trpc1 T C 9: 95,708,307 N699S probably damaging Het
Ttn A T 2: 76,743,800 M25583K probably damaging Het
Utrn A G 10: 12,710,054 V993A probably benign 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
IGL02148:Naca APN 10 128043884 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
R7632:Naca UTSW 10 128040506 missense unknown
R7826:Naca UTSW 10 128043610 intron probably benign
R8059:Naca UTSW 10 128040503 missense unknown
X0053:Naca UTSW 10 128048255 missense probably damaging 0.98
Posted On2015-04-16