Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01700:Psmc1'

104447

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 #

IGL01700

Quality Score

Status

Chromosome

Chromosomal Location

100110154-100123405 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 100113078 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Histidine at position 27 (P27H)

Ref Sequence

ENSEMBL: ENSMUSP00000021595 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000021595
AA Change: P27H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021595
Gene: ENSMUSG00000021178
AA Change: P27H

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: 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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	A	1: 71,280,390	M1778L	probably benign	Het
Aldh6a1	C	T	12: 84,439,538	C202Y	probably damaging	Het
Ankrd36	A	G	11: 5,632,198	T276A	probably benign	Het
Ankrd55	T	C	13: 112,381,168	I556T	probably benign	Het
Aqp4	A	G	18: 15,399,865	I57T	probably benign	Het
Atp1a1	T	C	3: 101,594,258	D43G	possibly damaging	Het
Cyld	G	A	8: 88,707,099	R172H	probably damaging	Het
Diexf	G	A	1: 193,118,265	P416S	probably damaging	Het
Ear2	A	T	14: 44,103,259	R125*	probably null	Het
Efcab9	T	C	11: 32,527,451	R24G	probably damaging	Het
F7	C	A	8: 13,028,685	Q39K	probably benign	Het
Galntl6	A	T	8: 57,958,460		probably benign	Het
Kcnj5	A	G	9: 32,322,629	V130A	probably damaging	Het
Magee2	A	G	X: 104,855,968	I359T	possibly damaging	Het
Myh1	T	G	11: 67,211,412	I843S	probably damaging	Het
Nfat5	T	A	8: 107,339,130	M98K	probably damaging	Het
Nrip3	T	A	7: 109,761,867	N200I	possibly damaging	Het
Olfr818	A	T	10: 129,945,941	N40K	probably damaging	Het
Phkb	A	T	8: 86,017,465	Q581L	probably benign	Het
Plxdc2	T	C	2: 16,512,115	V69A	probably benign	Het
Pou3f1	G	T	4: 124,658,857	W384L	probably damaging	Het
Prrc2a	G	A	17: 35,150,667	S1890L	possibly damaging	Het
Pvr	C	A	7: 19,909,232	A359S	probably benign	Het
Rasal1	A	T	5: 120,676,817	I711F	probably benign	Het
Ror1	C	T	4: 100,409,771	A223V	probably damaging	Het
Slc22a16	A	T	10: 40,603,908	I638L	unknown	Het
Slfn10-ps	C	T	11: 83,029,112		noncoding transcript	Het
Sptbn4	A	G	7: 27,404,268	L1176P	probably damaging	Het
Usp21	A	T	1: 171,283,402	F421I	probably damaging	Het
Vmn1r61	T	A	7: 5,611,203	R37S	possibly damaging	Het
Vps13a	G	A	19: 16,744,857	R364*	probably null	Het
Vps29	A	G	5: 122,362,867	Y165C	probably damaging	Het
Wdfy4	T	C	14: 33,020,238		probably benign	Het
Wdr24	A	G	17: 25,825,828	D219G	probably damaging	Het
Xpo1	T	C	11: 23,276,422		probably benign	Het
Zfp831	C	A	2: 174,644,918	T462K	possibly damaging	Het
Zswim5	T	C	4: 116,986,461		probably benign	Het

Other mutations in Psmc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02445:Psmc1	APN	12	100114828	splice site	probably benign
IGL02605:Psmc1	APN	12	100119127	missense	probably damaging	1.00
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

Posted On

2014-01-21