Mutagenetix > Incidental Mutation

Incidental Mutation 'R7632:Naca'

589710

Institutional Source

Beutler Lab

Gene Symbol

Naca

Ensembl Gene

ENSMUSG00000061315

Gene Name

nascent polypeptide-associated complex alpha polypeptide

Synonyms

LOC380777, skNAC

MMRRC Submission

Accession Numbers

Genbank: NM_013608; MGI: 106095 ; Ensembl: ENSMUST00000092048

Essential gene?

Probably essential (E-score: 0.773) question?

Stock #

R7632 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

128035575-128048637 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 128040506 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 469 (V469A)

Ref Sequence

ENSEMBL: ENSMUSP00000089680 (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: V469A

SMART Domains

Protein: ENSMUSP00000089680
Gene: ENSMUSG00000061315
AA Change: V469A

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

0.0852

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

95% (63/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap2a2	A	G	7: 141,631,323	D924G	probably benign	Het
Armh1	C	A	4: 117,213,741	A396S	probably benign	Het
Atrnl1	A	G	19: 57,630,306	D152G	probably damaging	Het
B3gnt8	A	G	7: 25,628,435	I97V	possibly damaging	Het
Bach1	A	G	16: 87,720,143	D524G	probably benign	Het
BC067074	C	A	13: 113,320,886	S1155R		Het
Caprin2	T	C	6: 148,883,456	S107G	probably damaging	Het
Ccnb1	A	G	13: 100,781,701	I207T	probably benign	Het
Cdh11	T	C	8: 102,673,883	D151G	probably damaging	Het
Cdh9	A	G	15: 16,851,029		probably null	Het
Cep83	A	T	10: 94,750,640	R433W	probably damaging	Het
D3Ertd751e	A	G	3: 41,753,728	E100G	probably benign	Het
Dchs2	C	T	3: 83,348,050	A2351V	probably benign	Het
Dhx40	T	C	11: 86,799,437	T253A	probably benign	Het
Dqx1	A	G	6: 83,059,699	D228G	probably benign	Het
Dync1h1	T	C	12: 110,660,893	M4002T	probably benign	Het
Flcn	C	T	11: 59,795,799	W376*	probably null	Het
Flnc	A	T	6: 29,446,985	Y1037F	probably damaging	Het
Fut11	T	A	14: 20,695,028	V9E	probably benign	Het
Fv1	T	A	4: 147,869,935	N319K	possibly damaging	Het
Ghrhr	G	T	6: 55,384,742	G298V	probably benign	Het
Gm5800	T	A	14: 51,716,448		probably null	Het
Grin2b	A	G	6: 135,732,555	M1331T	probably benign	Het
Hyou1	A	G	9: 44,381,136		probably null	Het
Igkv1-117	C	A	6: 68,121,808	Q114K	probably damaging	Het
Igkv4-68	A	G	6: 69,305,064	V41A	possibly damaging	Het
Inpp4b	A	G	8: 82,046,339	N754S	probably damaging	Het
Isl2	G	A	9: 55,541,156		probably null	Het
Kat2a	G	A	11: 100,708,596	Q523*	probably null	Het
Lypd3	T	C	7: 24,638,440	F77S	possibly damaging	Het
Map4k2	T	C	19: 6,344,054	L297P	probably benign	Het
Notch3	C	T	17: 32,158,506	V199I	probably benign	Het
Olfr1294	T	C	2: 111,538,176	I38V	possibly damaging	Het
Olfr1475	T	C	19: 13,479,431	M256V	possibly damaging	Het
Pabpc1	TGTACCTGTTGCATGGTA	TGTA	15: 36,597,968		probably null	Het
Pcdhb8	A	T	18: 37,355,595	I109L	probably benign	Het
Pde2a	A	G	7: 101,484,594	D104G	possibly damaging	Het
Phip	A	G	9: 82,903,190	V824A	probably benign	Het
Plekhg4	T	C	8: 105,380,150	Y853H	probably damaging	Het
Plod1	T	C	4: 147,927,024	K248R	probably damaging	Het
Plxnd1	A	T	6: 115,976,639	Y656N	probably benign	Het
Pogz	G	A	3: 94,856,206		probably null	Het
Ppp1r3e	T	A	14: 54,877,069	S79C	probably damaging	Het
Pprc1	T	A	19: 46,072,282	D1595E	probably damaging	Het
Ptprq	A	G	10: 107,711,922	V205A	probably benign	Het
Rad51ap2	T	C	12: 11,457,115	V346A	possibly damaging	Het
Rgs12	T	A	5: 34,965,590	L239H	probably damaging	Het
Rrp8	T	C	7: 105,736,520		probably benign	Het
Rsf1	GGCG	GGCGACCGCCGCG	7: 97,579,906		probably benign	Het
Scaf1	A	T	7: 45,007,079	V792D	unknown	Het
Scrn2	G	T	11: 97,033,142	R284L	possibly damaging	Het
Sgsm1	T	A	5: 113,276,082	Q461L	possibly damaging	Het
Slc18b1	A	G	10: 23,826,182	T434A	probably benign	Het
Sltm	C	G	9: 70,586,673	P802R	possibly damaging	Het
Smc4	CTA	CTATA	3: 69,018,067		probably benign	Het
Snx33	A	T	9: 56,926,418	D122E	probably damaging	Het
Srebf2	G	T	15: 82,185,296	V680L	probably benign	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638		probably benign	Het
Tecpr1	C	T	5: 144,218,726	V5M	probably benign	Het
Tfg	A	G	16: 56,712,634	V54A	possibly damaging	Het
Tmem237	C	T	1: 59,116,901	C30Y	probably benign	Het
Tmem245	T	C	4: 56,916,787	K444R	probably benign	Het
Trim25	T	G	11: 89,015,776	L446R	probably null	Het
Usp37	T	C	1: 74,468,374	T495A	probably benign	Het
Vmn1r94	T	G	7: 20,167,771	T203P	probably damaging	Het
Ywhah	T	A	5: 33,026,666	M71K	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
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
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

Predicted Primers

PCR Primer
(F):5'- GTGACTCAAGTTCCCGCTTC -3'
(R):5'- ACCTCCAGAGATGATGCACTC -3'

Sequencing Primer
(F):5'- TGTATTGGAGCCACCCACCATG -3'
(R):5'- CTCCAGAGATGATGCACTCTGAGAAG -3'

Posted On

2019-10-24