Mutagenetix > Incidental Mutation

Incidental Mutation 'R5027:Naca'

391449

Institutional Source

Beutler Lab

Gene Symbol

Naca

Ensembl Gene

ENSMUSG00000061315

Gene Name

nascent polypeptide-associated complex alpha polypeptide

Synonyms

LOC380777, skNAC

MMRRC Submission

042618-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.734) question?

Stock #

R5027 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127871444-127884506 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 127883990 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 2140 (E2140D)

Ref Sequence

ENSEMBL: ENSMUSP00000089680 (fasta)

Gene Model

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

AlphaFold

P70670

Predicted Effect

probably benign
Transcript: ENSMUST00000073868
AA Change: E168D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000073532
Gene: ENSMUSG00000061315
AA Change: E168D

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

possibly damaging
Transcript: ENSMUST00000092048
AA Change: E2140D

PolyPhen 2 Score 0.635 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000089680
Gene: ENSMUSG00000061315
AA Change: E2140D

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

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.6%

Validation Efficiency

97% (97/100)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	G	7: 119,911,505 (GRCm39)	I1363R	probably benign	Het
Abcc1	T	C	16: 14,221,917 (GRCm39)		probably null	Het
Adgrf1	T	A	17: 43,614,638 (GRCm39)	F241I	probably damaging	Het
Afg3l1	T	C	8: 124,216,553 (GRCm39)	M264T	probably benign	Het
Ankle1	T	C	8: 71,861,623 (GRCm39)	S434P	probably damaging	Het
Apoe	C	T	7: 19,430,940 (GRCm39)	A101T	probably damaging	Het
Apol11a	G	T	15: 77,401,153 (GRCm39)	K213N	probably damaging	Het
Asap2	A	G	12: 21,254,082 (GRCm39)	M198V	probably damaging	Het
Atg4b	C	T	1: 93,714,297 (GRCm39)	A360V	probably benign	Het
B3gnt5	T	A	16: 19,588,444 (GRCm39)	V221D	probably damaging	Het
Baz2b	A	T	2: 59,928,988 (GRCm39)		probably benign	Het
Cep350	C	A	1: 155,809,100 (GRCm39)	W492L	probably benign	Het
Cln6	A	G	9: 62,754,375 (GRCm39)	Y139C	probably damaging	Het
Col16a1	C	T	4: 129,972,988 (GRCm39)	T643M	probably benign	Het
Cul9	C	T	17: 46,811,708 (GRCm39)	E2507K	probably damaging	Het
Dgkz	A	T	2: 91,775,888 (GRCm39)	V125D	probably benign	Het
Dnah17	T	C	11: 117,993,365 (GRCm39)	M1127V	probably benign	Het
Dnajb1	C	A	8: 84,336,732 (GRCm39)	D67E	probably benign	Het
Dync1li1	A	G	9: 114,542,612 (GRCm39)	D258G	probably damaging	Het
Egflam	G	T	15: 7,283,125 (GRCm39)	P311T	probably benign	Het
Fbxw11	T	A	11: 32,602,811 (GRCm39)		probably benign	Het
Fn3krp	T	G	11: 121,320,274 (GRCm39)	D206E	probably benign	Het
Fsip2	A	G	2: 82,819,477 (GRCm39)	H5070R	possibly damaging	Het
Gm6605	T	C	7: 38,149,683 (GRCm39)		noncoding transcript	Het
Gna14	C	A	19: 16,580,636 (GRCm39)	T158K	probably benign	Het
Gstt2	A	T	10: 75,667,726 (GRCm39)	I243N	probably damaging	Het
Haus6	C	T	4: 86,523,933 (GRCm39)	D50N	possibly damaging	Het
Hcrtr2	A	G	9: 76,230,578 (GRCm39)	I70T	probably benign	Het
Herc1	G	A	9: 66,380,811 (GRCm39)	V3563I	probably benign	Het
Herc1	A	T	9: 66,411,900 (GRCm39)	I4707F	probably damaging	Het
Hic2	C	T	16: 17,076,611 (GRCm39)	A480V	possibly damaging	Het
Hsd17b3	A	G	13: 64,210,720 (GRCm39)	Y212H	probably damaging	Het
Hspa5	A	G	2: 34,665,827 (GRCm39)	K557R	probably damaging	Het
Iqch	T	C	9: 63,432,294 (GRCm39)	E367G	possibly damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Lars2	A	G	9: 123,270,560 (GRCm39)	M551V	probably benign	Het
Lbp	T	C	2: 158,150,646 (GRCm39)	I57T	possibly damaging	Het
Liat1	A	G	11: 75,891,047 (GRCm39)	K54E	probably damaging	Het
Litaf	T	C	16: 10,778,868 (GRCm39)	Q142R	possibly damaging	Het
Lpar5	G	C	6: 125,059,110 (GRCm39)	R277P	possibly damaging	Het
Muc6	T	A	7: 141,216,349 (GRCm39)	I2710F	probably benign	Het
Myo7b	T	A	18: 32,108,265 (GRCm39)	I1199F	probably benign	Het
Nup214	G	T	2: 31,881,329 (GRCm39)	G396C	probably damaging	Het
Or2v1	A	T	11: 49,025,451 (GRCm39)	Q144L	probably benign	Het
Or5aq7	T	A	2: 86,938,150 (GRCm39)	I194F	probably benign	Het
Or5j3	G	A	2: 86,128,540 (GRCm39)	V127I	possibly damaging	Het
Or7g33	A	G	9: 19,448,573 (GRCm39)	Y218H	probably damaging	Het
Or8b57	A	T	9: 40,003,690 (GRCm39)	S187T	probably damaging	Het
P4htm	A	G	9: 108,456,492 (GRCm39)	V436A	probably benign	Het
Pfkm	A	G	15: 98,017,307 (GRCm39)	I117V	possibly damaging	Het
Phlpp1	T	G	1: 106,209,201 (GRCm39)	V518G	probably damaging	Het
Piwil4	G	A	9: 14,621,240 (GRCm39)	L598F	probably damaging	Het
Polr1b	T	G	2: 128,965,803 (GRCm39)	I815R	possibly damaging	Het
Ppef2	T	C	5: 92,382,150 (GRCm39)	N515S	probably damaging	Het
Prp2rt	A	G	13: 97,235,648 (GRCm39)	I33T	probably benign	Het
Prpsap2	G	T	11: 61,631,830 (GRCm39)		probably null	Het
Rab27a	A	G	9: 73,002,695 (GRCm39)	D208G	probably benign	Het
Ralgds	A	G	2: 28,442,102 (GRCm39)		probably null	Het
Raph1	C	A	1: 60,535,436 (GRCm39)	C540F	probably damaging	Het
Rbsn	A	G	6: 92,175,231 (GRCm39)	L281P	probably damaging	Het
Rigi	T	A	4: 40,208,845 (GRCm39)	M756L	probably benign	Het
Rmdn1	G	T	4: 19,588,533 (GRCm39)	G110*	probably null	Het
Rph3a	T	A	5: 121,092,512 (GRCm39)	E363V	possibly damaging	Het
Serpina16	G	T	12: 103,641,262 (GRCm39)	Y154*	probably null	Het
Sh2d3c	G	A	2: 32,634,814 (GRCm39)	E198K	possibly damaging	Het
Shank2	C	A	7: 143,812,842 (GRCm39)	Y663*	probably null	Het
Sharpin	T	C	15: 76,234,225 (GRCm39)		probably benign	Het
Slitrk1	G	A	14: 109,149,740 (GRCm39)	P324S	probably benign	Het
Sorbs2	T	A	8: 46,199,571 (GRCm39)		probably null	Het
Spag16	C	T	1: 69,962,963 (GRCm39)		probably benign	Het
Sycp2l	A	T	13: 41,283,247 (GRCm39)		probably null	Het
Synj1	A	T	16: 90,737,407 (GRCm39)		probably null	Het
Sytl1	T	C	4: 132,983,530 (GRCm39)		probably benign	Het
Tkfc	A	T	19: 10,570,023 (GRCm39)		probably null	Het
Tnn	T	C	1: 159,972,781 (GRCm39)	T274A	probably damaging	Het
Trav14-2	T	A	14: 53,878,505 (GRCm39)	W35R	probably damaging	Het
Trim72	T	C	7: 127,607,137 (GRCm39)	M222T	probably damaging	Het
Trim9	A	G	12: 70,393,482 (GRCm39)	V154A	probably damaging	Het
Ttc7b	T	C	12: 100,268,001 (GRCm39)	Y266C	probably damaging	Het
Uchl3	T	A	14: 101,903,982 (GRCm39)	I43K	possibly damaging	Het
Vdac1	T	A	11: 52,279,305 (GRCm39)	N269K	possibly damaging	Het
Wdr72	T	A	9: 74,053,258 (GRCm39)	W187R	probably damaging	Het
Zfp30	T	A	7: 29,492,491 (GRCm39)	C248*	probably null	Het
Zfp940	A	T	7: 29,550,381 (GRCm39)		probably benign	Het
Zfp980	G	A	4: 145,428,653 (GRCm39)	G461S	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
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'- TGCAGAGGTTAAGCCCCAATTG -3'
(R):5'- TGCGACATGACCAGTTCTATG -3'

Sequencing Primer
(F):5'- GAGGTTAAGCCCCAATTGTGATACC -3'
(R):5'- GACATGACCAGTTCTATGTCCTTAAC -3'

Posted On

2016-06-06