Mutagenetix > Incidental Mutations

Incidental Mutation 'R1509:Naca'

168158

Institutional Source

Beutler Lab

Gene Symbol

Naca

Ensembl Gene

ENSMUSG00000061315

Gene Name

nascent polypeptide-associated complex alpha polypeptide

Synonyms

LOC380777, skNAC

MMRRC Submission

039556-MU

Accession Numbers

Genbank: NM_013608; MGI: 106095 ; Ensembl: ENSMUST00000092048

Is this an essential gene?

Probably essential (E-score: 0.857) question?

Stock #

R1509 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

128035575-128048637 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 128043397 bp

Zygosity

Heterozygous

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

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: S1433T

SMART Domains

Protein: ENSMUSP00000089680
Gene: ENSMUSG00000061315
AA Change: S1433T

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

Meta Mutation Damage Score

0.1311

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.1%

Validation Efficiency

99% (89/90)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,192,647	S132P	probably benign	Het
4930430A15Rik	A	T	2: 111,218,627	M269K	probably benign	Het
AC153895.1	T	C	6: 50,043,471	R54G	unknown	Het
Acot12	G	A	13: 91,771,875		probably null	Het
Adhfe1	T	A	1: 9,553,446	D98E	probably benign	Het
Ago2	A	G	15: 73,116,364	F594S	probably damaging	Het
Aldh18a1	A	G	19: 40,557,483	I620T	probably damaging	Het
Aspscr1	C	A	11: 120,701,516	A294D	probably damaging	Het
BC067074	A	G	13: 113,368,256	N431S	probably damaging	Het
Bod1l	C	G	5: 41,819,540	R1477T	probably damaging	Het
Ccdc18	C	A	5: 108,188,978	A741D	possibly damaging	Het
Ces4a	G	A	8: 105,138,097	G69S	probably damaging	Het
Cfap52	C	T	11: 67,938,993	V317I	probably benign	Het
Cgn	A	T	3: 94,774,258	L509Q	probably benign	Het
Crb2	A	G	2: 37,786,619	H204R	probably benign	Het
Ddx39	G	A	8: 83,719,898	V99M	probably damaging	Het
Dis3l2	T	A	1: 87,021,086	C582S	possibly damaging	Het
Dmbt1	G	A	7: 131,074,331		probably benign	Het
Dnah6	T	C	6: 73,027,442	E3846G	probably damaging	Het
Dstyk	A	G	1: 132,456,346	E655G	probably damaging	Het
Epha4	T	C	1: 77,380,886	Y825C	probably damaging	Het
Esp36	T	A	17: 38,417,282	N36I	probably damaging	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fem1c	A	G	18: 46,524,213	S145P	probably benign	Het
Galnt13	T	C	2: 54,733,082	I80T	probably damaging	Het
Gm10125	A	G	18: 5,583,794		noncoding transcript	Het
Gm5698	T	C	1: 30,977,647	T108A	probably benign	Het
Hipk3	A	G	2: 104,441,262	S442P	probably benign	Het
Hmcn2	T	A	2: 31,314,479	V22D	possibly damaging	Het
Hspg2	C	T	4: 137,511,241		probably benign	Het
Ide	A	G	19: 37,285,204		probably null	Het
Ifnar1	C	A	16: 91,503,496	P462Q	probably damaging	Het
Itgb2l	T	A	16: 96,426,849	I485F	probably benign	Het
Jakmip3	C	T	7: 139,027,776	R549W	possibly damaging	Het
Lrrc36	A	G	8: 105,461,129	Q680R	probably damaging	Het
Lysmd3	T	G	13: 81,669,271	H122Q	probably benign	Het
Macf1	C	A	4: 123,684,009	V61L	possibly damaging	Het
Map1b	T	C	13: 99,431,528	T1562A	unknown	Het
Map3k20	A	T	2: 72,364,624		probably benign	Het
Mroh8	A	G	2: 157,233,205	V457A	probably benign	Het
Mrpl40	T	A	16: 18,875,409		probably null	Het
Ms4a10	C	T	19: 10,964,108	V166I	probably benign	Het
Mycl	A	G	4: 123,000,307	D300G	probably damaging	Het
Ncoa4	T	C	14: 32,173,434	S172P	probably damaging	Het
Nfatc3	T	C	8: 106,083,854	F421L	possibly damaging	Het
Nucb1	C	A	7: 45,495,225	K301N	probably benign	Het
Olfr1451	T	A	19: 12,999,451	I155N	possibly damaging	Het
Olfr366	A	G	2: 37,219,954	H155R	probably damaging	Het
Olfr629	A	T	7: 103,741,036	M68K	probably benign	Het
Panx1	A	T	9: 15,010,045	V178E	possibly damaging	Het
Pkd1l3	G	A	8: 109,640,770	V1210I	probably damaging	Het
Polr2a	A	T	11: 69,747,213	H143Q	possibly damaging	Het
Prdm12	G	A	2: 31,654,174	R263H	probably damaging	Het
Prkdc	A	C	16: 15,731,566	K1998T	probably damaging	Het
Rab11fip1	A	T	8: 27,153,023	S583T	probably damaging	Het
Rnf157	T	A	11: 116,347,095	T567S	probably benign	Het
Rp1	T	C	1: 4,347,694	K1065R	probably damaging	Het
Rp1	A	G	1: 4,348,537	I784T	probably benign	Het
Rps10	A	C	17: 27,631,208	F150V	probably benign	Het
Rrp12	A	T	19: 41,882,200	F499I	probably damaging	Het
Sez6l2	G	A	7: 126,963,363	R604H	probably damaging	Het
Slc25a21	G	T	12: 56,858,079	Q57K	probably benign	Het
Slc27a2	A	G	2: 126,553,314	T54A	possibly damaging	Het
Slc9a9	T	A	9: 95,228,958	S610T	probably benign	Het
Smc1b	A	T	15: 85,086,134	S973T	probably benign	Het
Smc6	G	A	12: 11,279,733	S164N	possibly damaging	Het
Sp1	A	G	15: 102,407,879	T32A	possibly damaging	Het
Spen	T	C	4: 141,475,700	K1872R	possibly damaging	Het
Spen	T	C	4: 141,475,635	I1894V	probably benign	Het
Stab1	C	A	14: 31,151,584		probably benign	Het
Taar7d	T	G	10: 24,028,204	F328C	probably damaging	Het
Ticam1	A	T	17: 56,271,113	S327R	probably benign	Het
Tmem248	C	T	5: 130,229,454		probably benign	Het
Tom1	T	C	8: 75,054,631	S83P	probably damaging	Het
Txk	T	A	5: 72,699,110	Y446F	probably damaging	Het
Ubap1l	T	A	9: 65,371,955	C179S	probably benign	Het
Utrn	T	C	10: 12,455,441	E474G	possibly damaging	Het
Vmn2r14	T	C	5: 109,215,996	M685V	probably benign	Het
Vmn2r7	A	T	3: 64,716,460	Y146*	probably null	Het
Wdr1	G	A	5: 38,540,562	T220M	probably damaging	Het
Xpo7	T	C	14: 70,678,142	D726G	probably damaging	Het
Zbtb14	C	G	17: 69,387,764	I152M	probably benign	Het
Zbtb3	A	G	19: 8,803,407	D128G	probably damaging	Het
Zfp462	T	A	4: 55,007,667	D35E	probably damaging	Het
Zfp467	A	G	6: 48,438,687	S344P	possibly damaging	Het
Zfpm1	A	T	8: 122,307,546	D73V	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
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
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
X0053:Naca	UTSW	10	128048255	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TTCCCAAAGTGGCAGGTCCCAAAG -3'
(R):5'- CTTGAGGAGACAGCAACTTCCTGTG -3'

Sequencing Primer
(F):5'- AGCTGTACCACTGGAAATTCCTC -3'
(R):5'- ACAGTGGTGACCCTTTCAGAG -3'

Posted On

2014-04-13