Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03104:Naca'

418858

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

Genbank: NM_013608; MGI: 106095 ; Ensembl: ENSMUST00000092048

Essential gene?

Possibly essential (E-score: 0.690) question?

Stock #

IGL03104

Quality Score

Status

Chromosome

Chromosomal Location

128035575-128048637 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

C to T at 128040364 bp (GRCm38)

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

Domain	Start	End	E-Value	Type
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: P422S

SMART Domains

Protein: ENSMUSP00000089680
Gene: ENSMUSG00000061315
AA Change: P422S

Domain	Start	End	E-Value	Type
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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox2	C	A	1: 58,282,759	T70K	probably benign	Het
Armt1	T	A	10: 4,439,615	Y91N	possibly damaging	Het
Atp1a2	A	G	1: 172,293,367	L46S	probably damaging	Het
Baz1a	A	G	12: 54,894,958	S1488P	probably damaging	Het
Coro7	T	A	16: 4,629,126	E793V	probably damaging	Het
Ctnnbl1	G	T	2: 157,890,965	R555L	probably damaging	Het
Dclk2	A	G	3: 86,836,359	C268R	probably damaging	Het
Dock7	A	T	4: 98,959,023	M1684K	possibly damaging	Het
Dock8	T	A	19: 25,201,020	C2092*	probably null	Het
Dtx1	T	A	5: 120,694,965	Q136L	possibly damaging	Het
Egln3	C	T	12: 54,203,195		probably benign	Het
Eml5	A	T	12: 98,861,245	Y575*	probably null	Het
Entpd5	A	T	12: 84,384,248	V310E	probably damaging	Het
Fkbp5	A	G	17: 28,415,972	F188L	probably damaging	Het
Frrs1	T	C	3: 116,881,782	S120P	probably benign	Het
Gadl1	T	C	9: 116,074,040	I479T	possibly damaging	Het
Gfra2	A	T	14: 70,968,285	M106L	probably benign	Het
Gm17455	T	A	10: 60,403,281	C108*	probably null	Het
Gm9733	G	T	3: 15,332,223		probably benign	Het
Grhpr	A	G	4: 44,983,867		probably benign	Het
Hsp90ab1	G	A	17: 45,571,523	R82C	probably damaging	Het
Igsf10	T	C	3: 59,319,484	Y2256C	probably damaging	Het
Ivd	A	T	2: 118,872,903	I160F	probably benign	Het
Krtap5-5	A	G	7: 142,229,713	C67R	unknown	Het
Lhx4	A	T	1: 155,705,221	V186E	probably damaging	Het
Lrrk2	T	C	15: 91,747,755	I1294T	possibly damaging	Het
Map3k5	C	T	10: 20,132,055	S1202L	probably benign	Het
Mdfic	T	A	6: 15,770,320	N108K	probably damaging	Het
Mov10	G	A	3: 104,797,307	R763W	probably damaging	Het
Mto1	T	C	9: 78,449,520	S106P	probably damaging	Het
Olfr1408	A	G	1: 173,130,959	V86A	probably benign	Het
Olfr282	A	G	15: 98,438,246	Y259C	possibly damaging	Het
Pan2	T	C	10: 128,315,663		probably benign	Het
Pold1	T	C	7: 44,540,580	Y394C	probably damaging	Het
Sipa1l1	T	A	12: 82,342,130	S377T	probably benign	Het
Slc36a3	A	G	11: 55,125,120	S403P	probably damaging	Het
Slc4a4	A	G	5: 89,149,372	T480A	probably damaging	Het
Slu7	G	A	11: 43,442,056	V315I	probably benign	Het
St6galnac3	T	C	3: 153,205,478	E282G	probably damaging	Het
Tlr12	A	G	4: 128,615,892	V855A	probably benign	Het
Vmn1r53	T	A	6: 90,223,962	K127*	probably null	Het
Vmn1r72	T	G	7: 11,669,885	H212P	probably damaging	Het
Vmn2r86	T	A	10: 130,446,632	Q705L	probably damaging	Het
Vps33b	C	T	7: 80,276,083	R93C	probably damaging	Het
Wdr91	T	A	6: 34,905,556	E219D	probably benign	Het
Zan	G	A	5: 137,463,500	T1139I	unknown	Het
Zc3hav1	T	A	6: 38,340,343	K107N	probably damaging	Het
Zcchc6	T	C	13: 59,814,903	D350G	probably benign	Het
Zmym2	A	G	14: 56,950,327	E1150G	possibly damaging	Het

Other mutations in Naca

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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
R7921:Naca	UTSW	10	128043049	missense	unknown
R8059:Naca	UTSW	10	128040503	missense	unknown
R8084:Naca	UTSW	10	128041531	missense	unknown
R8385:Naca	UTSW	10	128042438	missense	unknown
R8515:Naca	UTSW	10	128044243	missense	possibly damaging	0.73
R8708:Naca	UTSW	10	128048074	missense	probably damaging	1.00
R9629:Naca	UTSW	10	128042357	missense	unknown
X0053:Naca	UTSW	10	128048255	missense	probably damaging	0.98

Posted On

2016-08-02