Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02971:Naca'

365796

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: 0.738) question?

Stock #

IGL02971

Quality Score

Status

Chromosome

Chromosomal Location

128035575-128048637 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

C to T at 128041568 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: P823L

SMART Domains

Protein: ENSMUSP00000089680
Gene: ENSMUSG00000061315
AA Change: P823L

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930018P22Rik	C	T	2: 104,123,219	T130I	probably benign	Het
Ahi1	T	C	10: 21,000,551	L787P	possibly damaging	Het
Atf3	A	G	1: 191,177,443	S10P	probably benign	Het
Cdr2l	A	G	11: 115,390,900	N77S	probably damaging	Het
Cnp	A	G	11: 100,576,699	D156G	probably benign	Het
Cntn3	A	T	6: 102,168,933	D982E	probably damaging	Het
Col22a1	A	G	15: 72,006,738	L190S	probably damaging	Het
Csmd3	C	T	15: 47,913,929		probably benign	Het
Dnah5	A	G	15: 28,384,461	D3117G	probably damaging	Het
Dock5	T	C	14: 67,757,109	E1834G	probably null	Het
Eea1	A	G	10: 96,041,527	T1368A	probably benign	Het
Fam83f	T	C	15: 80,672,149	V78A	probably benign	Het
Fcgbp	G	A	7: 28,101,473	V1315I	probably damaging	Het
Fsd2	A	T	7: 81,548,923	Y364*	probably null	Het
Gm21976	G	A	13: 98,302,549	G16R	probably null	Het
Guca2b	A	G	4: 119,657,688	S59P	probably damaging	Het
Hars2	A	G	18: 36,786,178	E123G	probably damaging	Het
Hdac2	A	T	10: 37,000,374	K462*	probably null	Het
Huwe1	T	A	X: 151,927,626		probably benign	Het
Iqgap3	T	A	3: 88,090,304	N262K	probably benign	Het
Kat6b	A	G	14: 21,669,758	S1502G	probably damaging	Het
Mapkapk3	A	T	9: 107,257,080	D328E	probably benign	Het
Mgea5	A	G	19: 45,762,243	F671S	probably damaging	Het
Npffr1	T	C	10: 61,614,139	V64A	probably damaging	Het
Olfr331	A	G	11: 58,502,385	L57P	probably damaging	Het
Olfr918	T	A	9: 38,673,268	M72L	probably damaging	Het
Pcca	A	G	14: 122,889,533	D718G	probably damaging	Het
Pde6a	A	C	18: 61,264,255	D670A	probably damaging	Het
Pramel7	T	A	2: 87,490,073	E292V	probably benign	Het
Prmt9	A	C	8: 77,565,069	M357L	probably benign	Het
Ptgfr	A	T	3: 151,835,326	S182T	probably benign	Het
Rtraf	A	T	14: 19,816,192	M152K	possibly damaging	Het
Satb1	T	C	17: 51,742,689	D579G	possibly damaging	Het
Serpinb6a	A	G	13: 33,931,470		probably null	Het
Slc5a9	T	C	4: 111,890,300	I297V	possibly damaging	Het
Slf1	T	A	13: 77,047,104		probably benign	Het
St8sia2	C	T	7: 73,966,811	V139M	probably damaging	Het
Tas2r114	T	C	6: 131,689,280	M262V	probably benign	Het
Tmem147	A	G	7: 30,729,422		probably benign	Het
Tmem220	A	G	11: 67,034,107		probably null	Het
Uspl1	A	G	5: 149,188,346	N35S	possibly damaging	Het
Vmn1r170	A	T	7: 23,606,334	I54F	possibly damaging	Het
Vmn2r121	T	G	X: 124,127,894	I810L	probably damaging	Het
Wbp2nl	A	T	15: 82,305,744	T46S	possibly damaging	Het
Zfp955b	T	A	17: 33,300,966	M57K	probably benign	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
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
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

2015-12-18