Mutagenetix > Incidental Mutation

Incidental Mutation 'R6665:Naca'

526941

Institutional Source

Beutler Lab

Gene Symbol

Naca

Ensembl Gene

ENSMUSG00000061315

Gene Name

nascent polypeptide-associated complex alpha polypeptide

Synonyms

LOC380777, skNAC

MMRRC Submission

044785-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.734) question?

Stock #

R6665 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127871444-127884506 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 127884227 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 2180 (N2180K)

Ref Sequence

ENSEMBL: ENSMUSP00000089680 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073868] [ENSMUST00000092048]

AlphaFold

P70670

Predicted Effect

probably damaging
Transcript: ENSMUST00000073868
AA Change: N208K

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000073532
Gene: ENSMUSG00000061315
AA Change: N208K

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

probably damaging
Transcript: ENSMUST00000092048
AA Change: N2180K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000089680
Gene: ENSMUSG00000061315
AA Change: N2180K

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

0.7577

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.0%

Validation Efficiency

100% (34/34)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts15	A	G	9: 30,815,775 (GRCm39)		probably null	Het
Adamts16	T	G	13: 70,927,689 (GRCm39)	K517Q	probably damaging	Het
Atp9b	A	C	18: 80,960,950 (GRCm39)	V87G	probably benign	Het
Avil	A	G	10: 126,856,394 (GRCm39)	K808E	probably damaging	Het
Bin2	T	C	15: 100,554,676 (GRCm39)	E49G	probably damaging	Het
Ccdc146	T	C	5: 21,508,092 (GRCm39)	Y652C	probably damaging	Het
Cd6	T	C	19: 10,768,367 (GRCm39)	N541D	probably benign	Het
Col28a1	A	G	6: 8,062,277 (GRCm39)	V671A	probably benign	Het
Dock6	C	T	9: 21,751,208 (GRCm39)	C355Y	probably damaging	Het
Dsc2	A	G	18: 20,183,205 (GRCm39)	F71S	probably damaging	Het
Dusp8	G	A	7: 141,643,842 (GRCm39)	P24S	probably damaging	Het
Dysf	A	G	6: 84,107,098 (GRCm39)	Y1151C	probably benign	Het
Fhip2b	A	T	14: 70,823,078 (GRCm39)	L659Q	probably damaging	Het
Frem2	T	C	3: 53,562,077 (GRCm39)	Y810C	probably damaging	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Hexb	T	C	13: 97,315,893 (GRCm39)	N380D	probably benign	Het
Ice1	T	C	13: 70,751,592 (GRCm39)	E1498G	possibly damaging	Het
Lrif1	T	A	3: 106,642,659 (GRCm39)		probably null	Het
Myo9a	G	T	9: 59,779,155 (GRCm39)	G1637V	probably benign	Het
Myod1	A	T	7: 46,026,281 (GRCm39)	H62L	probably damaging	Het
Myoz3	A	C	18: 60,709,495 (GRCm39)	L222R	probably damaging	Het
Or6c76	T	C	10: 129,612,116 (GRCm39)	F111S	probably damaging	Het
Pik3cb	A	G	9: 98,955,702 (GRCm39)	V405A	probably benign	Het
Prkdc	T	C	16: 15,603,914 (GRCm39)		probably null	Het
Rab32	T	C	10: 10,433,846 (GRCm39)		probably benign	Het
Serpinb10	A	C	1: 107,474,597 (GRCm39)	N253T	possibly damaging	Het
Slc13a5	C	T	11: 72,151,186 (GRCm39)	V131I	probably damaging	Het
Slc25a40	A	G	5: 8,502,788 (GRCm39)	N290S	probably benign	Het
Slc6a6	T	C	6: 91,703,020 (GRCm39)	V131A	probably benign	Het
Spef2	A	T	15: 9,600,604 (GRCm39)		probably null	Het
Stxbp2	A	G	8: 3,691,998 (GRCm39)	M547V	probably benign	Het
Tmem247	A	T	17: 87,225,998 (GRCm39)	Q146L	probably benign	Het
Vmn2r67	T	C	7: 84,785,900 (GRCm39)	I702V	probably benign	Het
Zmynd15	T	C	11: 70,355,636 (GRCm39)	S436P	probably benign	Het

Other mutations in Naca

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00909:Naca	APN	10	127,877,551 (GRCm39)	intron	probably benign
IGL00990:Naca	APN	10	127,879,669 (GRCm39)	intron	probably benign
IGL01093:Naca	APN	10	127,883,982 (GRCm39)	missense	probably damaging	0.99
IGL01356:Naca	APN	10	127,877,584 (GRCm39)	intron	probably benign
IGL01548:Naca	APN	10	127,876,773 (GRCm39)	intron	probably benign
IGL02089:Naca	APN	10	127,872,358 (GRCm39)	splice site	probably benign
IGL02148:Naca	APN	10	127,879,753 (GRCm39)	intron	probably benign
IGL02494:Naca	APN	10	127,877,179 (GRCm39)	intron	probably benign
IGL02672:Naca	APN	10	127,876,152 (GRCm39)	intron	probably benign
IGL02822:Naca	APN	10	127,875,214 (GRCm39)	intron	probably benign
IGL02904:Naca	APN	10	127,879,159 (GRCm39)	intron	probably benign
IGL02931:Naca	APN	10	127,883,551 (GRCm39)	missense	probably damaging	1.00
IGL02971:Naca	APN	10	127,877,437 (GRCm39)	intron	probably benign
IGL03104:Naca	APN	10	127,876,233 (GRCm39)	intron	probably benign
Sinewy	UTSW	10	127,884,227 (GRCm39)	missense	probably damaging	1.00
D4216:Naca	UTSW	10	127,880,109 (GRCm39)	missense	possibly damaging	0.73
P0042:Naca	UTSW	10	127,877,422 (GRCm39)	intron	probably benign
R0110:Naca	UTSW	10	127,880,659 (GRCm39)	missense	probably benign	0.13
R0220:Naca	UTSW	10	127,879,255 (GRCm39)	intron	probably benign
R0469:Naca	UTSW	10	127,880,659 (GRCm39)	missense	probably benign	0.13
R0528:Naca	UTSW	10	127,879,162 (GRCm39)	missense	probably benign	0.23
R0594:Naca	UTSW	10	127,876,224 (GRCm39)	intron	probably benign
R0626:Naca	UTSW	10	127,877,031 (GRCm39)	intron	probably benign
R0885:Naca	UTSW	10	127,876,048 (GRCm39)	nonsense	probably null
R1129:Naca	UTSW	10	127,876,071 (GRCm39)	intron	probably benign
R1437:Naca	UTSW	10	127,878,048 (GRCm39)	intron	probably benign
R1464:Naca	UTSW	10	127,884,157 (GRCm39)	missense	probably damaging	0.96
R1464:Naca	UTSW	10	127,884,157 (GRCm39)	missense	probably damaging	0.96
R1509:Naca	UTSW	10	127,879,266 (GRCm39)	intron	probably benign
R1561:Naca	UTSW	10	127,876,267 (GRCm39)	intron	probably benign
R1574:Naca	UTSW	10	127,876,267 (GRCm39)	intron	probably benign
R1678:Naca	UTSW	10	127,879,395 (GRCm39)	intron	probably benign
R1901:Naca	UTSW	10	127,879,590 (GRCm39)	intron	probably benign
R2884:Naca	UTSW	10	127,877,547 (GRCm39)	intron	probably benign
R2886:Naca	UTSW	10	127,877,547 (GRCm39)	intron	probably benign
R3176:Naca	UTSW	10	127,876,530 (GRCm39)	intron	probably benign
R3276:Naca	UTSW	10	127,876,530 (GRCm39)	intron	probably benign
R4227:Naca	UTSW	10	127,877,530 (GRCm39)	intron	probably benign
R4388:Naca	UTSW	10	127,880,661 (GRCm39)	missense	probably damaging	0.99
R4402:Naca	UTSW	10	127,879,341 (GRCm39)	intron	probably benign
R4798:Naca	UTSW	10	127,883,672 (GRCm39)	missense	probably null	0.99
R4955:Naca	UTSW	10	127,878,084 (GRCm39)	intron	probably benign
R4996:Naca	UTSW	10	127,878,298 (GRCm39)	intron	probably benign
R5027:Naca	UTSW	10	127,883,990 (GRCm39)	missense	possibly damaging	0.63
R5580:Naca	UTSW	10	127,876,462 (GRCm39)	intron	probably benign
R5752:Naca	UTSW	10	127,877,797 (GRCm39)	intron	probably benign
R5788:Naca	UTSW	10	127,876,011 (GRCm39)	intron	probably benign
R6156:Naca	UTSW	10	127,875,160 (GRCm39)	intron	probably benign
R6227:Naca	UTSW	10	127,879,785 (GRCm39)	intron	probably benign
R6317:Naca	UTSW	10	127,879,993 (GRCm39)	missense	probably benign	0.33
R7170:Naca	UTSW	10	127,875,990 (GRCm39)	missense	unknown
R7247:Naca	UTSW	10	127,878,467 (GRCm39)	missense	unknown
R7632:Naca	UTSW	10	127,876,375 (GRCm39)	missense	unknown
R7826:Naca	UTSW	10	127,879,479 (GRCm39)	intron	probably benign
R7921:Naca	UTSW	10	127,878,918 (GRCm39)	missense	unknown
R8059:Naca	UTSW	10	127,876,372 (GRCm39)	missense	unknown
R8084:Naca	UTSW	10	127,877,400 (GRCm39)	missense	unknown
R8385:Naca	UTSW	10	127,878,307 (GRCm39)	missense	unknown
R8515:Naca	UTSW	10	127,880,112 (GRCm39)	missense	possibly damaging	0.73
R8708:Naca	UTSW	10	127,883,943 (GRCm39)	missense	probably damaging	1.00
R9629:Naca	UTSW	10	127,878,226 (GRCm39)	missense	unknown
X0053:Naca	UTSW	10	127,884,124 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AGCGACTCTTGCTTCAGAAAAC -3'
(R):5'- GCTGTAGTTCCACTTTTCAAACACC -3'

Sequencing Primer
(F):5'- GCGACTCTTGCTTCAGAAAACTATAG -3'
(R):5'- GTTCCACTTTTCAAACACCAAAAAGG -3'

Posted On

2018-07-23