Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01548:Naca'

93192

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

Genbank: NM_013608; MGI: 106095 ; Ensembl: ENSMUST00000092048

Is this an essential gene?

Probably essential (E-score: 0.774) question?

Stock #

IGL01548

Quality Score

Status

Chromosome

Chromosomal Location

128035575-128048637 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 128040904 bp (GRCm38)

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: T602S

SMART Domains

Protein: ENSMUSP00000089680
Gene: ENSMUSG00000061315
AA Change: T602S

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	T	C	2: 130,814,259	N110D	probably damaging	Het
Acot3	C	T	12: 84,057,089	T224I	probably benign	Het
Adamts18	C	T	8: 113,764,299	G512E	probably damaging	Het
Atp4b	A	G	8: 13,389,679	I181T	probably damaging	Het
Bcl11a	A	G	11: 24,163,346	I230V	probably benign	Het
Cenpj	C	A	14: 56,532,319	V1138L	probably benign	Het
Cep78	A	G	19: 15,981,200		probably benign	Het
Clec2j	T	A	6: 128,655,978		noncoding transcript	Het
Col5a3	T	C	9: 20,803,000		probably benign	Het
Cpne6	A	T	14: 55,512,726	T105S	probably damaging	Het
Csmd1	A	T	8: 16,288,646	Y482*	probably null	Het
Ctrl	C	A	8: 105,933,258		probably benign	Het
Dhcr24	T	A	4: 106,573,871	C252*	probably null	Het
Dnah17	G	A	11: 118,098,612	P1261S	probably benign	Het
Dnaic2	T	C	11: 114,752,942	L466P	probably damaging	Het
Dync2h1	A	T	9: 7,071,922	F3036Y	probably damaging	Het
Eef1akmt2	A	C	7: 132,831,405	S191A	probably damaging	Het
Fam205c	T	C	4: 42,868,564	E353G	probably benign	Het
Fat4	G	A	3: 39,009,257	C4454Y	probably damaging	Het
Fat4	T	C	3: 38,887,758	S267P	probably damaging	Het
Frrs1	T	C	3: 116,885,185	C219R	probably damaging	Het
Gabra6	T	A	11: 42,317,023	Q207L	probably damaging	Het
Gm19668	A	T	10: 77,798,408	C242*	probably null	Het
Gm2840	G	A	5: 96,174,277		noncoding transcript	Het
Gm6614	A	G	6: 141,992,512	I227T	possibly damaging	Het
Gm8765	A	G	13: 50,700,378	T91A	probably benign	Het
Gmcl1p1	G	A	X: 3,078,226	G423S	probably benign	Het
Golim4	C	T	3: 75,908,125		probably null	Het
Gucy1b1	G	T	3: 82,034,862	T530K	probably damaging	Het
Hacl1	A	T	14: 31,640,596	D31E	possibly damaging	Het
Hectd4	A	G	5: 121,364,660	T4276A	possibly damaging	Het
Henmt1	T	C	3: 108,942,779	I26T	probably damaging	Het
Hspa1l	G	A	17: 34,978,391	A469T	probably damaging	Het
Htra3	T	A	5: 35,664,076		probably null	Het
Lrrc28	C	A	7: 67,628,294		probably null	Het
Mfhas1	T	C	8: 35,590,459	L696P	probably damaging	Het
Mios	A	G	6: 8,234,252	K808E	possibly damaging	Het
Mtnr1b	A	G	9: 15,863,200	Y188H	probably damaging	Het
Myom1	A	G	17: 71,101,220		probably benign	Het
Nckap1l	T	A	15: 103,462,720	V213D	probably benign	Het
Ndufa6	C	T	15: 82,354,081	V50M	possibly damaging	Het
Olfr1000	A	G	2: 85,608,761	W50R	probably benign	Het
Olfr1055	T	A	2: 86,347,733	Y11F	possibly damaging	Het
Olfr1260	T	A	2: 89,978,539	F254I	possibly damaging	Het
Olfr1465	A	G	19: 13,313,986	F100L	possibly damaging	Het
Olfr923	A	G	9: 38,828,350	T220A	probably benign	Het
Osbpl1a	T	C	18: 12,763,575	Y311C	probably damaging	Het
Parp11	A	C	6: 127,491,599	Y204S	probably damaging	Het
Pla2g4a	A	G	1: 149,932,656		probably null	Het
Plec	T	C	15: 76,189,258	R519G	probably benign	Het
Ppp2r5c	T	A	12: 110,567,827	Y375N	probably benign	Het
Prss35	C	A	9: 86,755,274	S32R	probably benign	Het
Prss57	C	T	10: 79,785,747		probably benign	Het
Ptprc	A	C	1: 138,099,481		probably null	Het
Rims1	A	G	1: 22,538,602	C188R	probably damaging	Het
Ripk4	G	T	16: 97,751,496	Y144*	probably null	Het
Rpgrip1	A	T	14: 52,126,271		probably benign	Het
Rps6ka4	A	G	19: 6,832,323	V378A	probably benign	Het
Rtf1	A	G	2: 119,712,108	K298E	probably benign	Het
Sdk1	T	C	5: 142,085,765	F1237L	possibly damaging	Het
Slc40a1	T	C	1: 45,909,492	K543E	probably benign	Het
Sorcs3	A	T	19: 48,794,168	I1041F	possibly damaging	Het
Taok3	T	C	5: 117,272,197	M818T	probably benign	Het
Tas2r119	T	A	15: 32,177,977	F230I	probably damaging	Het
Tbc1d8	T	C	1: 39,381,304	D716G	probably damaging	Het
Tfg	A	G	16: 56,701,102	S58P	probably damaging	Het
Thnsl1	A	G	2: 21,213,132	I45V	probably damaging	Het
Tle1	A	G	4: 72,170,718	L96P	probably damaging	Het
Tmem260	A	C	14: 48,480,325	S276R	possibly damaging	Het
Utp20	A	G	10: 88,764,781	S24P	probably damaging	Het
Vcam1	T	C	3: 116,115,951	I576V	probably benign	Het
Vmn1r27	G	T	6: 58,215,553	N105K	probably benign	Het
Vmn2r12	A	C	5: 109,093,027	Y73*	probably null	Het
Vmn2r86	T	C	10: 130,446,282	I822V	probably benign	Het
Wdr6	C	T	9: 108,574,897	V596I	possibly damaging	Het
Zfp946	A	T	17: 22,454,662	K132N	possibly damaging	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
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
R7632:Naca	UTSW	10	128040506	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

Posted On

2013-12-09