Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02605:Psmc1'

300225

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Psmc1

Ensembl Gene

ENSMUSG00000021178

Gene Name

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

Synonyms

S4, Rpt2/S4, rpt2, P26s4

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02605

Quality Score

Status

Chromosome

Chromosomal Location

100110154-100123405 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 100119127 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 249 (R249L)

Ref Sequence

ENSEMBL: ENSMUSP00000021595 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000021595
AA Change: R249L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021595
Gene: ENSMUSG00000021178
AA Change: R249L

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

Validation Efficiency

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	A	T	2: 103,717,257	Y992F	probably benign	Het
Adgrg6	T	A	10: 14,467,232	N324Y	probably damaging	Het
Ampd3	T	C	7: 110,795,758	F305L	probably benign	Het
Ankrd35	A	G	3: 96,681,072		probably null	Het
Api5	A	G	2: 94,429,719	I64T	possibly damaging	Het
Arhgap21	A	G	2: 20,855,588	I1165T	probably damaging	Het
Bdp1	T	C	13: 100,078,115		probably null	Het
Capn3	T	A	2: 120,496,037	I570N	probably damaging	Het
Catsperg2	T	C	7: 29,719,565	H232R	possibly damaging	Het
Clcn7	T	C	17: 25,146,818	L156P	possibly damaging	Het
Cpa3	C	A	3: 20,222,212	V286F	probably benign	Het
Csrnp3	G	A	2: 66,022,809	C527Y	probably damaging	Het
Dock5	A	T	14: 67,828,438	V372E	probably benign	Het
Elmo1	T	C	13: 20,605,202	L696P	probably damaging	Het
Fam91a1	T	C	15: 58,431,196		probably benign	Het
Gm12695	T	A	4: 96,762,751	D155V	probably null	Het
Hspa4l	A	G	3: 40,781,623	I559V	probably benign	Het
Kdm1a	G	T	4: 136,551,037		probably benign	Het
Lrrc8d	A	T	5: 105,826,817		noncoding transcript	Het
Minpp1	A	T	19: 32,498,415	Y316F	possibly damaging	Het
Neto2	T	C	8: 85,663,435		probably benign	Het
Nrxn2	T	A	19: 6,450,580	D277E	probably benign	Het
Ola1	A	G	2: 73,142,300		probably benign	Het
Olfr1298	A	G	2: 111,645,505	V164A	probably benign	Het
Olfr550	T	C	7: 102,579,395	I300T	probably damaging	Het
Olfr893	T	A	9: 38,209,236	M61K	probably damaging	Het
Pam	A	G	1: 97,840,339	V722A	possibly damaging	Het
Pfdn6	T	C	17: 33,939,103	Y90C	probably benign	Het
Pkhd1	T	A	1: 20,550,902	H844L	possibly damaging	Het
Plk5	G	A	10: 80,363,062	V422M	probably damaging	Het
Ptpro	C	T	6: 137,380,318	P269L	probably benign	Het
Ralgapa1	G	T	12: 55,712,665	H1480Q	possibly damaging	Het
Rars	G	A	11: 35,824,526		probably benign	Het
Rbm48	G	A	5: 3,590,600	R260C	possibly damaging	Het
Smarcc1	C	T	9: 110,222,000	H963Y	possibly damaging	Het
Spef2	T	C	15: 9,725,152	E230G	probably damaging	Het
Spg11	A	G	2: 122,092,260	S903P	probably benign	Het
Tas2r122	T	C	6: 132,711,609	Y107C	probably damaging	Het
Tpm3	C	A	3: 90,088,446	N204K	probably benign	Het
Wdr36	T	C	18: 32,851,991	I450T	possibly damaging	Het

Other mutations in Psmc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01700:Psmc1	APN	12	100113078	missense	probably damaging	1.00
IGL02445:Psmc1	APN	12	100114828	splice site	probably benign
R0018:Psmc1	UTSW	12	100116692	splice site	probably benign
R0018:Psmc1	UTSW	12	100116692	splice site	probably benign
R0427:Psmc1	UTSW	12	100119228	missense	probably damaging	0.96
R0534:Psmc1	UTSW	12	100120130	missense	possibly damaging	0.79
R0931:Psmc1	UTSW	12	100119082	missense	probably damaging	0.99
R1937:Psmc1	UTSW	12	100114843	missense	probably benign	0.26
R2405:Psmc1	UTSW	12	100120103	missense	probably benign	0.03
R5063:Psmc1	UTSW	12	100115475	missense	probably damaging	0.97
R5293:Psmc1	UTSW	12	100115472	missense	probably benign	0.11
R5346:Psmc1	UTSW	12	100120100	missense	probably damaging	0.99
R5542:Psmc1	UTSW	12	100120140	critical splice donor site	probably null
R7513:Psmc1	UTSW	12	100115514	missense	probably benign	0.19
R7993:Psmc1	UTSW	12	100115565	missense	probably benign	0.01
R8489:Psmc1	UTSW	12	100123097	missense	probably benign	0.00

Posted On

2015-04-16