Mutagenetix > Incidental Mutation

Incidental Mutation 'R4388:Naca'

326313

Institutional Source

Beutler Lab

Gene Symbol

Naca

Ensembl Gene

ENSMUSG00000061315

Gene Name

nascent polypeptide-associated complex alpha polypeptide

Synonyms

LOC380777, skNAC

MMRRC Submission

041125-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.722) question?

Stock #

R4388 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

127871444-127884506 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127880661 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1898 (S1898P)

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

probably damaging
Transcript: ENSMUST00000092048
AA Change: S1898P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000089680
Gene: ENSMUSG00000061315
AA Change: S1898P

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

0.1093

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

86% (31/36)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	A	13: 77,464,693 (GRCm39)		probably null	Het
Adgrv1	T	C	13: 81,729,828 (GRCm39)	T218A	probably damaging	Het
Aldh1l2	T	C	10: 83,349,486 (GRCm39)	D254G	probably damaging	Het
Arpc4	A	G	6: 113,362,458 (GRCm39)	D36G	probably damaging	Het
Cd209b	A	G	8: 3,975,960 (GRCm39)	L67P	probably damaging	Het
Cldn20	G	A	17: 3,583,485 (GRCm39)	M219I	probably benign	Het
Dmxl2	G	A	9: 54,303,551 (GRCm39)	P2308S	probably damaging	Het
Fancd2	A	G	6: 113,533,329 (GRCm39)	I549V	probably damaging	Het
Galnt2	T	C	8: 125,022,192 (GRCm39)		probably null	Het
Galnt9	A	G	5: 110,736,257 (GRCm39)	D191G	probably damaging	Het
Hgf	T	A	5: 16,819,941 (GRCm39)	H557Q	probably benign	Het
Ifna12	T	C	4: 88,521,346 (GRCm39)	D67G	probably benign	Het
Igf1r	A	G	7: 67,819,757 (GRCm39)	I356V	probably benign	Het
Itih1	A	G	14: 30,663,512 (GRCm39)	V164A	possibly damaging	Het
Kcnc1	C	A	7: 46,047,126 (GRCm39)	R9S	possibly damaging	Het
Kmt2b	A	C	7: 30,288,015 (GRCm39)		probably benign	Het
Kmt2d	C	T	15: 98,751,507 (GRCm39)		probably benign	Het
Kng1	T	A	16: 22,898,068 (GRCm39)	H489Q	possibly damaging	Het
Larp7-ps	A	T	4: 92,079,351 (GRCm39)	S157T	probably benign	Het
Map4k5	C	A	12: 69,892,583 (GRCm39)	M115I	probably damaging	Het
Muc4	T	C	16: 32,753,802 (GRCm38)	I1226T	probably benign	Het
Nlrp4e	A	G	7: 23,000,902 (GRCm39)	K66E	probably benign	Het
Nlrp4e	A	G	7: 23,020,652 (GRCm39)	I380V	probably benign	Het
Pex26	A	G	6: 121,161,351 (GRCm39)	D43G	probably damaging	Het
Prr14l	A	G	5: 32,986,598 (GRCm39)	S966P	probably damaging	Het
Recql4	A	G	15: 76,590,158 (GRCm39)	S659P	probably benign	Het
Serpina3n	C	A	12: 104,377,616 (GRCm39)	Q290K	probably benign	Het
Sft2d1	A	G	17: 8,539,469 (GRCm39)	K91E	possibly damaging	Het
Slc25a16	T	C	10: 62,764,105 (GRCm39)	V54A	probably benign	Het
Svep1	A	G	4: 58,069,249 (GRCm39)	Y2846H	possibly damaging	Het
Ttll2	T	A	17: 7,618,599 (GRCm39)	R443*	probably null	Het
Uty	A	G	Y: 1,151,956 (GRCm39)	S795P	possibly damaging	Het
Xrcc5	T	A	1: 72,369,189 (GRCm39)	S348T	possibly damaging	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
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
R6665:Naca	UTSW	10	127,884,227 (GRCm39)	missense	probably damaging	1.00
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'- TCAGACAGTTCCTGTTGAGAAAGAC -3'
(R):5'- TTCAGAACAGGCTGCTTGGC -3'

Sequencing Primer
(F):5'- CAGTTCCTGTTGAGAAAGACACTTC -3'
(R):5'- ATCGGCTGGAAAGGCTCTC -3'

Posted On

2015-07-06