Mutagenetix > Incidental Mutation

Incidental Mutation 'R0018:Psmc1'

64949

Institutional Source

Beutler Lab

Gene Symbol

Psmc1

Ensembl Gene

ENSMUSG00000021178

Gene Name

protease (prosome, macropain) 26S subunit, ATPase 1

Synonyms

P26s4, Rpt2/S4, rpt2, S4

MMRRC Submission

038313-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0018 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

100076461-100089623 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 100082951 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000021595 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021595]

AlphaFold

P62192

Predicted Effect

probably benign
Transcript: ENSMUST00000021595

SMART Domains

Protein: ENSMUSP00000021595
Gene: ENSMUSG00000021178

Domain	Start	End	E-Value	Type
low complexity region	7	24	N/A	INTRINSIC
low complexity region	27	43	N/A	INTRINSIC
AAA	218	357	1.57e-23	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221308

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222374

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223078

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.9%
20x: 96.6%

Validation Efficiency

100% (64/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. This subunit and a 20S core alpha subunit interact specifically with the hepatitis B virus X protein, a protein critical to viral replication. This subunit also interacts with the adenovirus E1A protein and this interaction alters the activity of the proteasome. Finally, this subunit interacts with ataxin-7, suggesting a role for the proteasome in the development of spinocerebellar ataxia type 7, a progressive neurodegenerative disorder. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants are embryonic lethal. Conditional null in cortical neurons causes neurodegeneration and premature death in several different models. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	C	17: 24,532,162 (GRCm39)		probably null	Het
Afp	A	C	5: 90,654,600 (GRCm39)	Q546P	probably damaging	Het
Api5	A	T	2: 94,251,329 (GRCm39)		probably null	Het
Atp2b4	T	A	1: 133,645,609 (GRCm39)	I982F	probably damaging	Het
BC024139	G	A	15: 76,005,087 (GRCm39)	Q592*	probably null	Het
Capn7	T	A	14: 31,076,069 (GRCm39)	C290*	probably null	Het
Ccn1	A	G	3: 145,355,186 (GRCm39)	L23P	probably damaging	Het
Celsr1	T	A	15: 85,915,243 (GRCm39)	D910V	possibly damaging	Het
Chga	T	C	12: 102,524,764 (GRCm39)	S45P	probably damaging	Het
Cpne2	T	A	8: 95,282,681 (GRCm39)	C59S	possibly damaging	Het
Cyp2b13	G	A	7: 25,785,375 (GRCm39)	R248H	probably benign	Het
Dennd1a	T	A	2: 37,748,472 (GRCm39)	T336S	possibly damaging	Het
Drc7	A	G	8: 95,800,862 (GRCm39)	Y628C	probably damaging	Het
Dse	A	G	10: 34,029,464 (GRCm39)	V542A	probably benign	Het
Dspp	A	T	5: 104,326,096 (GRCm39)	S820C	unknown	Het
Efcab3	G	A	11: 104,612,378 (GRCm39)		probably null	Het
Eif5b	T	C	1: 38,057,970 (GRCm39)	S91P	unknown	Het
Epop	A	G	11: 97,519,017 (GRCm39)	V364A	probably benign	Het
Ext2	G	A	2: 93,626,037 (GRCm39)	P341L	probably damaging	Het
Galns	T	C	8: 123,311,724 (GRCm39)	T429A	probably benign	Het
Gsx2	A	G	5: 75,237,828 (GRCm39)	K260R	probably damaging	Het
H2-M10.6	A	C	17: 37,124,941 (GRCm39)	H286P	probably damaging	Het
Hectd4	A	G	5: 121,392,242 (GRCm39)	N169D	possibly damaging	Het
Helz2	C	A	2: 180,874,552 (GRCm39)	G1981C	probably damaging	Het
Hmcn1	T	C	1: 150,528,302 (GRCm39)	D3282G	probably benign	Het
Hnmt	T	A	2: 23,893,640 (GRCm39)	N285Y	possibly damaging	Het
Hr	A	G	14: 70,795,717 (GRCm39)	R450G	probably benign	Het
Kat6a	A	G	8: 23,419,289 (GRCm39)	D684G	possibly damaging	Het
Kif27	T	G	13: 58,435,867 (GRCm39)	I1309L	probably benign	Het
Mab21l4	T	A	1: 93,082,327 (GRCm39)	D264V	probably benign	Het
Man2b1	T	A	8: 85,824,118 (GRCm39)	V1005E	probably damaging	Het
Me2	A	T	18: 73,924,923 (GRCm39)	F265I	possibly damaging	Het
Myo9a	A	T	9: 59,779,007 (GRCm39)	T1588S	probably benign	Het
Neu4	T	A	1: 93,953,060 (GRCm39)	D476E	probably benign	Het
Nlrp9c	T	A	7: 26,071,423 (GRCm39)	Q895L	possibly damaging	Het
Or1e35	T	C	11: 73,797,452 (GRCm39)	I289V	probably damaging	Het
Or1p1c	A	C	11: 74,160,934 (GRCm39)	T240P	probably benign	Het
Pdzd8	C	T	19: 59,289,105 (GRCm39)	R765H	probably damaging	Het
Plk1	T	C	7: 121,768,208 (GRCm39)		probably null	Het
Ppfia2	A	G	10: 106,678,647 (GRCm39)		probably benign	Het
Prkdc	T	C	16: 15,544,406 (GRCm39)	Y1799H	probably benign	Het
Ptchd3	A	C	11: 121,733,170 (GRCm39)	I687L	probably benign	Het
Ptprh	A	G	7: 4,604,845 (GRCm39)		probably null	Het
Pus3	A	G	9: 35,477,920 (GRCm39)	D384G	probably benign	Het
Rab44	C	T	17: 29,358,354 (GRCm39)	P181S	probably benign	Het
Rasa2	A	G	9: 96,454,016 (GRCm39)	S307P	probably damaging	Het
Rbpms2	A	G	9: 65,558,360 (GRCm39)	D142G	probably damaging	Het
Reln	A	T	5: 22,130,369 (GRCm39)	D2647E	probably benign	Het
Ryr2	G	A	13: 11,610,109 (GRCm39)	T4239I	possibly damaging	Het
Sctr	C	A	1: 119,971,286 (GRCm39)		probably benign	Het
Serpinb6e	A	T	13: 34,021,828 (GRCm39)	Y167N	probably damaging	Het
Slc13a5	T	C	11: 72,157,301 (GRCm39)	I31V	probably benign	Het
Slc15a4	A	T	5: 127,679,074 (GRCm39)	I422N	probably damaging	Het
Stk24	G	A	14: 121,545,419 (GRCm39)		probably benign	Het
Vmn1r213	T	A	13: 23,196,311 (GRCm39)	V298D	probably damaging	Het
Xdh	C	T	17: 74,232,020 (GRCm39)	R230H	probably benign	Het
Zfp418	A	T	7: 7,185,449 (GRCm39)	S471C	probably benign	Het

Other mutations in Psmc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01700:Psmc1	APN	12	100,079,337 (GRCm39)	missense	probably damaging	1.00
IGL02445:Psmc1	APN	12	100,081,087 (GRCm39)	splice site	probably benign
IGL02605:Psmc1	APN	12	100,085,386 (GRCm39)	missense	probably damaging	1.00
R0018:Psmc1	UTSW	12	100,082,951 (GRCm39)	splice site	probably benign
R0427:Psmc1	UTSW	12	100,085,487 (GRCm39)	missense	probably damaging	0.96
R0534:Psmc1	UTSW	12	100,086,389 (GRCm39)	missense	possibly damaging	0.79
R0931:Psmc1	UTSW	12	100,085,341 (GRCm39)	missense	probably damaging	0.99
R1937:Psmc1	UTSW	12	100,081,102 (GRCm39)	missense	probably benign	0.26
R2405:Psmc1	UTSW	12	100,086,362 (GRCm39)	missense	probably benign	0.03
R5063:Psmc1	UTSW	12	100,081,734 (GRCm39)	missense	probably damaging	0.97
R5293:Psmc1	UTSW	12	100,081,731 (GRCm39)	missense	probably benign	0.11
R5346:Psmc1	UTSW	12	100,086,359 (GRCm39)	missense	probably damaging	0.99
R5542:Psmc1	UTSW	12	100,086,399 (GRCm39)	critical splice donor site	probably null
R7513:Psmc1	UTSW	12	100,081,773 (GRCm39)	missense	probably benign	0.19
R7993:Psmc1	UTSW	12	100,081,824 (GRCm39)	missense	probably benign	0.01
R8489:Psmc1	UTSW	12	100,089,356 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGAAAACTCAGTGAGACACCTGCC -3'
(R):5'- GCCTGCTAAGCAGTGTGTTCTACC -3'

Sequencing Primer
(F):5'- GAGACACCTGCCCTCTTCAG -3'
(R):5'- CCAGCTCCAGAGTTGAGCTAAG -3'

Posted On

2013-08-06