Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00990:Naca'

28449

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

Essential gene?

Possibly essential (E-score: 0.734) question?

Stock #

IGL00990

Quality Score

Status

Chromosome

Chromosomal Location

127871444-127884506 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 127879669 bp (GRCm39)

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: I1567K

SMART Domains

Protein: ENSMUSP00000089680
Gene: ENSMUSG00000061315
AA Change: I1567K

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: 150 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	C	A	15: 64,694,162 (GRCm39)	V372L	probably benign	Het
Bod1l	T	C	5: 41,986,208 (GRCm39)	D458G	probably benign	Het
Cacna1c	G	T	6: 118,590,256 (GRCm39)	H1416N	probably damaging	Het
Cacna2d1	T	C	5: 16,140,067 (GRCm39)	I19T	probably benign	Het
Cadps	T	A	14: 12,715,374 (GRCm38)	T153S	possibly damaging	Het
Cd200r1	A	T	16: 44,614,672 (GRCm39)	D317V	possibly damaging	Het
Cimap1c	T	C	9: 56,756,341 (GRCm39)	E225G	probably benign	Het
Dcaf5	C	T	12: 80,385,606 (GRCm39)	R840H	probably benign	Het
Dnhd1	A	C	7: 105,370,895 (GRCm39)	H4725P	possibly damaging	Het
Echdc3	C	A	2: 6,200,538 (GRCm39)	L149F	probably benign	Het
Efhb	T	G	17: 53,769,649 (GRCm39)	Q220P	possibly damaging	Het
Efr3b	A	T	12: 4,025,411 (GRCm39)	Y18*	probably null	Het
Eri1	T	C	8: 35,949,836 (GRCm39)	K41R	possibly damaging	Het
Eri1	C	A	8: 35,949,800 (GRCm39)	G53V	probably benign	Het
Gm10212	A	G	19: 11,546,924 (GRCm39)		noncoding transcript	Het
Gm11168	T	G	9: 3,005,124 (GRCm39)	F201C	probably damaging	Het
Gm14412	A	C	2: 177,007,479 (GRCm39)	S139A	probably benign	Het
Gm21411	C	T	4: 146,977,067 (GRCm39)	S69N	possibly damaging	Het
Gm21738	A	G	14: 19,418,885 (GRCm38)	C16R	probably benign	Het
Gm21967	T	A	13: 120,071,071 (GRCm39)		probably benign	Het
Gm4952	A	T	19: 12,600,987 (GRCm39)	D69V	probably damaging	Het
Gm5591	T	G	7: 38,219,838 (GRCm39)	K345T	probably benign	Het
Gm7647	T	C	5: 95,110,839 (GRCm39)	S7P	probably benign	Het
Gm9758	G	A	5: 14,963,522 (GRCm39)		probably benign	Het
Gtse1	C	A	15: 85,753,018 (GRCm39)	Q378K	possibly damaging	Het
Haus3	T	C	5: 34,323,690 (GRCm39)	K307E	probably benign	Het
Hjurp	A	G	1: 88,197,991 (GRCm39)	L96S	probably benign	Het
Ifi205	T	A	1: 173,854,899 (GRCm39)		probably benign	Het
Ighg1	A	G	12: 113,292,804 (GRCm39)	V255A	unknown	Het
Ighv14-4	T	A	12: 114,140,252 (GRCm39)	M49L	probably benign	Het
Jak1	A	C	4: 101,028,554 (GRCm39)	L508R	probably damaging	Het
Kif18a	A	G	2: 109,164,767 (GRCm39)	Q821R	probably benign	Het
Kif21b	T	C	1: 136,080,080 (GRCm39)	S539P	possibly damaging	Het
Klhdc2	T	C	12: 69,353,987 (GRCm39)	V266A	probably benign	Het
Lonp2	G	T	8: 87,368,161 (GRCm39)		probably benign	Het
Mpdz	C	T	4: 81,221,821 (GRCm39)		probably benign	Het
Mroh2a	G	T	1: 88,172,692 (GRCm39)	M823I	probably benign	Het
Mroh2a	G	A	1: 88,161,842 (GRCm39)	G309D	possibly damaging	Het
Mroh2a	G	A	1: 88,158,468 (GRCm39)	E172K	probably damaging	Het
Mtif3	C	A	5: 146,895,914 (GRCm39)	G58*	probably null	Het
Muc4	C	T	16: 32,576,179 (GRCm39)		probably benign	Het
Muc4	C	T	16: 32,575,114 (GRCm39)	P1233L	probably benign	Het
Muc4	G	T	16: 32,575,139 (GRCm39)	K1241N	probably benign	Het
Muc4	G	A	16: 32,575,140 (GRCm39)	G1242R	probably benign	Het
Muc4	T	G	16: 32,753,863 (GRCm38)	N1246K	probably benign	Het
Muc4	A	T	16: 32,753,886 (GRCm38)	E1254V	probably benign	Het
Muc4	C	T	16: 32,752,569 (GRCm38)	P816S	probably benign	Het
Muc4	A	G	16: 32,575,362 (GRCm39)	R1316G	probably benign	Het
Muc4	C	A	16: 32,575,246 (GRCm39)	T1277K	possibly damaging	Het
Muc6	C	T	7: 141,638,890 (GRCm38)	A1957T	possibly damaging	Het
Nars2	A	T	7: 96,651,997 (GRCm39)		probably benign	Het
Or1j14	A	C	2: 36,418,005 (GRCm39)	I194L	probably benign	Het
Or52b3	G	T	7: 102,204,098 (GRCm39)	L202F	probably damaging	Het
Or5b12b	G	T	19: 12,861,265 (GRCm39)	V7L	probably benign	Het
Or6c216	T	C	10: 129,678,342 (GRCm39)	T190A	probably damaging	Het
Pcdh7	G	A	5: 57,877,806 (GRCm39)	E454K	possibly damaging	Het
Pip5kl1	C	A	2: 32,473,359 (GRCm39)	A332D	probably benign	Het
Pisd	A	T	5: 32,896,702 (GRCm39)	S280T	probably benign	Het
Pramel34	T	A	5: 93,784,336 (GRCm39)	Q376L	probably damaging	Het
Pramel5	A	G	4: 144,000,549 (GRCm39)	L9P	probably damaging	Het
Prkd3	G	T	17: 79,261,952 (GRCm39)	N787K	probably benign	Het
Prkdc	A	T	16: 15,519,979 (GRCm39)	H1139L	probably benign	Het
R3hdm1	A	G	1: 128,089,933 (GRCm39)		probably benign	Het
Rbfox2	T	C	15: 76,987,136 (GRCm39)	N206D	probably damaging	Het
Rlf	T	C	4: 121,005,536 (GRCm39)	E1258G	possibly damaging	Het
Rpl8	T	C	15: 76,789,242 (GRCm39)		probably benign	Het
Senp5	A	C	16: 31,809,092 (GRCm39)	V27G	probably benign	Het
Serpina1b	T	A	12: 103,694,525 (GRCm39)	K406N	probably damaging	Het
Sfi1	C	T	11: 3,085,671 (GRCm39)	A853T	probably damaging	Het
Sfi1	T	C	11: 3,093,689 (GRCm39)		probably benign	Het
Sfi1	G	A	11: 3,084,337 (GRCm39)	A975V	probably benign	Het
Shc1	T	C	3: 89,331,536 (GRCm39)	S154P	probably damaging	Het
Sirpd	C	T	3: 15,397,205 (GRCm39)		probably null	Het
Skint5	A	G	4: 113,400,070 (GRCm39)		probably null	Het
Slc17a8	T	C	10: 89,412,392 (GRCm39)	D531G	probably benign	Het
Slc4a10	A	C	2: 62,117,284 (GRCm39)	T718P	probably damaging	Het
Slc7a11	C	T	3: 50,333,518 (GRCm39)	R411Q	probably damaging	Het
Slitrk3	A	G	3: 72,957,414 (GRCm39)	F453L	probably damaging	Het
Slk	A	C	19: 47,568,691 (GRCm39)	Q20P	probably damaging	Het
Smg5	T	C	3: 88,250,345 (GRCm39)		probably null	Het
Sp110	G	A	1: 85,514,002 (GRCm39)	R252C	possibly damaging	Het
Sp140	G	A	1: 85,553,854 (GRCm39)	R231K	probably benign	Het
Sp140	C	T	1: 85,553,886 (GRCm39)	R242C	possibly damaging	Het
Speer4a3	A	C	5: 26,159,222 (GRCm39)	W41G	probably benign	Het
Speer4b	G	A	5: 27,706,272 (GRCm39)	P30S	probably damaging	Het
Spef1l	A	C	7: 139,558,016 (GRCm39)	V60G	probably damaging	Het
Stim1	T	A	7: 102,075,954 (GRCm39)	H395Q	probably damaging	Het
Sult2a1	T	C	7: 13,537,961 (GRCm39)	I187M	probably benign	Het
Thap1	G	A	8: 26,652,759 (GRCm39)	D189N	probably benign	Het
Thap1	C	T	8: 26,650,910 (GRCm39)	P37L	possibly damaging	Het
Thrap3	C	T	4: 126,059,188 (GRCm39)		probably benign	Het
Tmem132d	C	T	5: 127,861,896 (GRCm39)	V742I	possibly damaging	Het
Tmprss9	A	G	10: 80,728,126 (GRCm39)	D572G	possibly damaging	Het
Tmtc1	T	G	6: 148,345,442 (GRCm39)	T86P	probably benign	Het
Trip12	A	T	1: 84,729,605 (GRCm39)	N1026K	probably damaging	Het
Ttll5	T	A	12: 85,923,363 (GRCm39)	V280E	probably damaging	Het
Ubn2	T	A	6: 38,459,540 (GRCm39)	D592E	possibly damaging	Het
Ubr1	T	G	2: 120,761,353 (GRCm39)	H608P	probably damaging	Het
Ugt1a6b	A	T	1: 88,142,900 (GRCm39)		probably null	Het
Vmn1r77	C	A	7: 11,775,695 (GRCm39)	S89Y	probably benign	Het
Vmn1r77	A	C	7: 11,775,403 (GRCm39)	I60L	probably benign	Het
Vmn2r114	G	A	17: 23,509,939 (GRCm39)	A847V	probably benign	Het
Vmn2r114	A	T	17: 23,510,212 (GRCm39)	L756Q	probably damaging	Het
Vmn2r114	G	T	17: 23,509,957 (GRCm39)	S841Y	probably benign	Het
Vmn2r115	G	A	17: 23,578,753 (GRCm39)	G742D	probably damaging	Het
Vmn2r115	C	T	17: 23,565,238 (GRCm39)	S375F	probably benign	Het
Vmn2r115	A	G	17: 23,575,934 (GRCm39)	M511V	probably benign	Het
Vmn2r115	A	G	17: 23,565,346 (GRCm39)	Q411R	probably benign	Het
Vmn2r115	C	T	17: 23,565,345 (GRCm39)	Q411*	probably null	Het
Vmn2r115	C	T	17: 23,578,371 (GRCm39)	P615S	probably damaging	Het
Vmn2r115	A	G	17: 23,565,135 (GRCm39)	N341D	probably benign	Het
Vmn2r115	G	A	17: 23,565,252 (GRCm39)	E380K	probably benign	Het
Vmn2r115	A	C	17: 23,565,313 (GRCm39)	N400T	probably damaging	Het
Vmn2r115	T	A	17: 23,578,798 (GRCm39)	L757Q	probably damaging	Het
Vmn2r115	G	T	17: 23,567,008 (GRCm39)	G507*	probably null	Het
Vmn2r115	A	T	17: 23,565,180 (GRCm39)	M356L	possibly damaging	Het
Vmn2r115	C	T	17: 23,565,150 (GRCm39)	P346S	probably benign	Het
Vmn2r115	G	T	17: 23,578,323 (GRCm39)	A599S	probably benign	Het
Vmn2r116	C	T	17: 23,606,210 (GRCm39)	S374F	probably benign	Het
Vmn2r116	C	T	17: 23,616,701 (GRCm39)	P540S	probably damaging	Het
Vmn2r117	T	G	17: 23,694,403 (GRCm39)	K481N	probably damaging	Het
Vmn2r117	C	T	17: 23,696,814 (GRCm39)	A198T	probably damaging	Het
Vmn2r117	A	C	17: 23,698,520 (GRCm39)	S18A	probably benign	Het
Vmn2r121	T	G	X: 123,037,499 (GRCm39)	K840N	probably benign	Het
Vmn2r121	C	T	X: 123,043,413 (GRCm39)	E73K	probably benign	Het
Vmn2r121	T	A	X: 123,037,480 (GRCm39)	N847Y	possibly damaging	Het
Vmn2r125	T	A	4: 156,703,521 (GRCm39)	L300M	probably benign	Het
Vmn2r125	A	T	4: 156,703,332 (GRCm39)	T237S	probably benign	Het
Vmn2r125	C	T	4: 156,703,333 (GRCm39)	T237I	probably benign	Het
Vmn2r125	C	A	4: 156,703,194 (GRCm39)	Q191K	probably benign	Het
Vmn2r125	A	C	4: 156,703,195 (GRCm39)	Q191P	probably benign	Het
Vmn2r125	T	C	4: 156,703,261 (GRCm39)	V213A	probably benign	Het
Vmn2r125	T	C	4: 156,703,678 (GRCm39)	M352T	probably benign	Het
Vmn2r129	C	A	4: 156,690,730 (GRCm39)		noncoding transcript	Het
Vmn2r129	A	T	4: 156,690,441 (GRCm39)		noncoding transcript	Het
Vmn2r129	T	G	4: 156,690,779 (GRCm39)		noncoding transcript	Het
Vmn2r129	T	G	4: 156,686,857 (GRCm39)		noncoding transcript	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het
Vmn2r129	T	C	4: 156,686,558 (GRCm39)		noncoding transcript	Het
Vmn2r129	G	T	4: 156,690,755 (GRCm39)		noncoding transcript	Het
Vmn2r88	A	G	14: 51,650,582 (GRCm39)	I98M	probably benign	Het
Vmn2r88	C	T	14: 51,654,259 (GRCm39)	P539L	possibly damaging	Het
Vmn2r88	T	C	14: 51,650,713 (GRCm39)	I142T	probably benign	Het
Vmn2r88	T	C	14: 51,650,517 (GRCm39)	F77L	probably benign	Het
Vmn2r89	A	C	14: 51,693,428 (GRCm39)	Q259H	probably benign	Het
Vmn2r89	T	G	14: 51,694,950 (GRCm39)	L477V	probably benign	Het
Zfp180	C	T	7: 23,804,255 (GRCm39)	R225C	probably benign	Het
Zfp180	G	A	7: 23,803,841 (GRCm39)	C85Y	possibly damaging	Het
Zfp180	G	A	7: 23,804,420 (GRCm39)	V280M	possibly damaging	Het
Zfp982	G	A	4: 147,596,826 (GRCm39)	C61Y	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
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
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

Posted On

2013-04-17