Mutagenetix > Incidental Mutation

Incidental Mutation 'R9629:Naca'

725369

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

Essential gene?

Possibly essential (E-score: 0.734) question?

Stock #

R9629 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127871444-127884506 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127878226 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1086 (E1086G)

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: E1086G

SMART Domains

Protein: ENSMUSP00000089680
Gene: ENSMUSG00000061315
AA Change: E1086G

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	T	C	14: 35,532,134 (GRCm39)	E147G	probably damaging	Het
Agrn	G	A	4: 156,257,094 (GRCm39)	Q1217*	probably null	Het
Ankrd13c	G	C	3: 157,653,313 (GRCm39)	K50N	probably benign	Het
Anks3	C	T	16: 4,775,565 (GRCm39)	S144N	probably damaging	Het
Apob	A	T	12: 8,059,054 (GRCm39)	D2512V	probably damaging	Het
Arhgap45	A	G	10: 79,863,694 (GRCm39)	K815E	probably damaging	Het
Atr	T	A	9: 95,747,098 (GRCm39)	C127S	probably benign	Het
B4galnt4	A	G	7: 140,648,575 (GRCm39)	D697G	probably damaging	Het
C2cd3	C	T	7: 100,029,249 (GRCm39)	L134F	probably damaging	Het
Celsr2	C	T	3: 108,308,915 (GRCm39)	G1697D	probably damaging	Het
Cep170	A	G	1: 176,583,821 (GRCm39)	S88P	possibly damaging	Het
Cnot1	A	G	8: 96,455,874 (GRCm39)	V1961A	probably damaging	Het
Cntnap4	A	G	8: 113,568,349 (GRCm39)	N795S	probably damaging	Het
Cog2	T	A	8: 125,260,125 (GRCm39)	V256D	possibly damaging	Het
Col14a1	A	G	15: 55,382,545 (GRCm39)	Y515C		Het
Cox7a1	A	G	7: 29,884,583 (GRCm39)	Q30R	probably damaging	Het
Cs	T	C	10: 128,196,885 (GRCm39)	S427P	probably damaging	Het
Dbr1	T	A	9: 99,464,523 (GRCm39)	C101S		Het
Dhcr7	C	A	7: 143,401,212 (GRCm39)	Y461*	probably null	Het
Dis3l2	T	A	1: 86,974,784 (GRCm39)	M691K	probably benign	Het
Dnah17	T	C	11: 117,979,804 (GRCm39)	D1751G	probably damaging	Het
Dock10	A	T	1: 80,481,389 (GRCm39)	I536K		Het
Dok6	G	T	18: 89,491,988 (GRCm39)	F196L	possibly damaging	Het
Epx	C	T	11: 87,755,651 (GRCm39)	D678N	probably damaging	Het
Fcrlb	G	C	1: 170,739,735 (GRCm39)	P56A	probably benign	Het
Flrt3	T	C	2: 140,502,816 (GRCm39)	R271G	possibly damaging	Het
Galnt15	T	A	14: 31,774,301 (GRCm39)	L479Q	probably damaging	Het
Gfy	G	A	7: 44,827,785 (GRCm39)	L104F	probably benign	Het
Gltp	C	T	5: 114,814,382 (GRCm39)	M80I	probably benign	Het
Gm21560	G	A	14: 6,218,250 (GRCm38)	T76I	probably benign	Het
Gm5150	A	G	3: 16,044,829 (GRCm39)	I132T	probably benign	Het
Hdac9	T	C	12: 34,439,389 (GRCm39)	H437R	probably damaging	Het
Hpgd	C	A	8: 56,751,419 (GRCm39)	F82L		Het
Ifi207	GAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATGAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATGAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGACTATTGGATGGTGTTGATAGAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATGAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGAT	GAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATGAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGACTATTGGATGGTGTTGATAGAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATGAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGAT	1: 173,556,561 (GRCm39)		probably benign	Het
Ilrun	A	T	17: 28,012,913 (GRCm39)	F95I	probably damaging	Het
Itgb5	C	T	16: 33,696,295 (GRCm39)	T162I	probably damaging	Het
Jakmip3	G	A	7: 138,625,118 (GRCm39)		probably null	Het
Kctd1	A	T	18: 15,196,611 (GRCm39)	M4K	unknown	Het
Kirrel1	C	A	3: 87,003,025 (GRCm39)	E123*	probably null	Het
Krt87	G	C	15: 101,389,048 (GRCm39)	P95A	probably benign	Het
Man1a	A	T	10: 53,796,158 (GRCm39)	H511Q	probably damaging	Het
Megf8	A	G	7: 25,043,194 (GRCm39)	D1372G	possibly damaging	Het
Mrgprd	A	G	7: 144,875,189 (GRCm39)	D20G	probably benign	Het
Mrpl54	C	T	10: 81,101,528 (GRCm39)	G78S	probably damaging	Het
Myl1	T	A	1: 66,969,448 (GRCm39)	E61D	probably benign	Het
Myo7a	G	T	7: 97,712,937 (GRCm39)	H1679Q	probably benign	Het
Nagpa	C	G	16: 5,017,829 (GRCm39)	D258H	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nr2f6	G	A	8: 71,827,171 (GRCm39)	L377F	probably damaging	Het
Ntsr1	G	A	2: 180,183,274 (GRCm39)	R328H	probably damaging	Het
Nup93	G	A	8: 95,033,267 (GRCm39)	S592N	probably damaging	Het
Or10a2	A	T	7: 106,673,164 (GRCm39)	N43I	probably damaging	Het
Or4k40	T	A	2: 111,251,137 (GRCm39)	H53L	probably benign	Het
Or8g36	T	C	9: 39,422,497 (GRCm39)	D173G	probably benign	Het
Pard3	T	C	8: 128,136,153 (GRCm39)	V842A	possibly damaging	Het
Phospho2	T	A	2: 69,626,295 (GRCm39)	N150K	probably damaging	Het
Piwil1	T	C	5: 128,831,051 (GRCm39)	S791P	probably damaging	Het
Pkhd1	A	G	1: 20,462,437 (GRCm39)	V2039A	possibly damaging	Het
Ppp1r3c	A	G	19: 36,711,404 (GRCm39)	I122T	probably benign	Het
Prrc2c	A	G	1: 162,519,959 (GRCm39)	Y2131H	possibly damaging	Het
Qtrt2	T	C	16: 43,683,540 (GRCm39)	M311V	possibly damaging	Het
Rbbp4	T	C	4: 129,212,243 (GRCm39)	D346G	probably damaging	Het
Slc13a5	A	G	11: 72,138,578 (GRCm39)	I455T	probably damaging	Het
Slc28a3	A	T	13: 58,717,187 (GRCm39)	Y366*	probably null	Het
Srgap1	T	A	10: 121,705,746 (GRCm39)	Q226L	probably benign	Het
Syt17	A	G	7: 118,007,379 (GRCm39)	V362A	probably damaging	Het
Tas2r117	T	C	6: 132,780,374 (GRCm39)	S171P	probably benign	Het
Tfap2b	A	T	1: 19,289,468 (GRCm39)	I198F	probably damaging	Het
Tg	A	T	15: 66,555,587 (GRCm39)	I760F	possibly damaging	Het
Tmem123	T	C	9: 7,790,984 (GRCm39)	V95A	possibly damaging	Het
Tmem198b	C	A	10: 128,638,386 (GRCm39)	G59V	probably damaging	Het
Tmem30c	T	G	16: 57,096,585 (GRCm39)	I179L	probably benign	Het
Tmprss2	A	T	16: 97,369,702 (GRCm39)	D357E	probably benign	Het
Tns3	G	A	11: 8,401,142 (GRCm39)	T1052M	possibly damaging	Het
Trex1	A	T	9: 108,887,632 (GRCm39)	C120S	probably damaging	Het
Ttc8	A	G	12: 98,886,965 (GRCm39)	S13G	possibly damaging	Het
Ttll7	T	C	3: 146,621,487 (GRCm39)	I362T	probably damaging	Het
Usp34	A	T	11: 23,314,364 (GRCm39)	T769S		Het
Vmn1r185	G	T	7: 26,311,439 (GRCm39)	T22K	probably damaging	Het
Vmn1r39	T	G	6: 66,781,578 (GRCm39)	M247L	probably benign	Het
Vmn2r96	A	G	17: 18,803,257 (GRCm39)	D389G	probably benign	Het
Xirp1	C	T	9: 119,846,379 (GRCm39)	V835I	probably benign	Het
Ylpm1	T	G	12: 85,044,036 (GRCm39)	I258S	unknown	Het
Zfp971	A	T	2: 177,675,417 (GRCm39)	S339C	probably 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
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
X0053:Naca	UTSW	10	127,884,124 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GCTGTTCCACTGGAGATTCC -3'
(R):5'- TCCAGTGGCATAGCTGTGAC -3'

Sequencing Primer
(F):5'- GAGATTCCTCCTTGCTCCAAAAAGG -3'
(R):5'- ATAGCTGTGACCCCTCCAG -3'

Posted On

2022-09-12