Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02867:Psme1'

362380

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Psme1

Ensembl Gene

ENSMUSG00000022216

Gene Name

proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)

Synonyms

PA28a

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02867

Quality Score

Status

Chromosome

Chromosomal Location

55815951-55818984 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 55817383 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133366 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022826] [ENSMUST00000022828] [ENSMUST00000089619] [ENSMUST00000172738] [ENSMUST00000174484] [ENSMUST00000174259] [ENSMUST00000174563]

AlphaFold

P97371

Predicted Effect

probably benign
Transcript: ENSMUST00000022826

SMART Domains

Protein: ENSMUSP00000022826
Gene: ENSMUSG00000022215

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
transmembrane domain	58	80	N/A	INTRINSIC
transmembrane domain	95	114	N/A	INTRINSIC
low complexity region	127	141	N/A	INTRINSIC
transmembrane domain	189	211	N/A	INTRINSIC
transmembrane domain	221	243	N/A	INTRINSIC
transmembrane domain	250	272	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000022828

SMART Domains

Protein: ENSMUSP00000022828
Gene: ENSMUSG00000022217

Domain	Start	End	E-Value	Type
Pfam:UPF0172	3	191	1.9e-59	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000089619

SMART Domains

Protein: ENSMUSP00000087046
Gene: ENSMUSG00000022216

Domain	Start	End	E-Value	Type
Pfam:PA28_alpha	6	69	4.1e-29	PFAM
low complexity region	70	98	N/A	INTRINSIC
Pfam:PA28_beta	100	236	2.4e-59	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135068

Predicted Effect

probably benign
Transcript: ENSMUST00000172738

SMART Domains

Protein: ENSMUSP00000133867
Gene: ENSMUSG00000022216

Domain	Start	End	E-Value	Type
Pfam:PA28_alpha	6	69	3.8e-29	PFAM
low complexity region	70	98	N/A	INTRINSIC
Pfam:PA28_beta	129	226	3.2e-43	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172941

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173113

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174791

Predicted Effect

probably benign
Transcript: ENSMUST00000174484

SMART Domains

Protein: ENSMUSP00000133883
Gene: ENSMUSG00000022216

Domain	Start	End	E-Value	Type
Pfam:PA28_alpha	6	69	4.4e-29	PFAM
low complexity region	70	98	N/A	INTRINSIC
Pfam:PA28_beta	100	238	7.7e-67	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174259

SMART Domains

Protein: ENSMUSP00000134735
Gene: ENSMUSG00000022216

Domain	Start	End	E-Value	Type
Pfam:PA28_alpha	8	68	6e-27	PFAM
low complexity region	70	98	N/A	INTRINSIC
Pfam:PA28_beta	103	247	9.5e-64	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174563

SMART Domains

Protein: ENSMUSP00000133366
Gene: ENSMUSG00000022216

Domain	Start	End	E-Value	Type
Pfam:PA28_alpha	6	58	7.5e-18	PFAM
low complexity region	59	87	N/A	INTRINSIC
Pfam:PA28_beta	89	173	5.4e-37	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173169

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174618

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173544

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174148

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173388

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228834

Predicted Effect

probably benign
Transcript: ENSMUST00000174352

SMART Domains

Protein: ENSMUSP00000133463
Gene: ENSMUSG00000022217

Domain	Start	End	E-Value	Type
Pfam:UPF0172	1	43	6.3e-11	PFAM
Pfam:UPF0172	41	82	1.2e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174419

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. The immunoproteasome contains an alternate regulator, referred to as the 11S regulator or PA28, that replaces the 19S regulator. Three subunits (alpha, beta and gamma) of the 11S regulator have been identified. This gene encodes the alpha subunit of the 11S regulator, one of the two 11S subunits that is induced by gamma-interferon. Three alpha and three beta subunits combine to form a heterohexameric ring. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf2	T	A	5: 24,776,149 (GRCm39)	Y310F	probably benign	Het
Adarb1	C	T	10: 77,149,375 (GRCm39)	V371I	probably benign	Het
Antxr2	G	T	5: 98,125,509 (GRCm39)	H249Q	probably benign	Het
Arel1	A	T	12: 84,981,097 (GRCm39)	N303K	probably benign	Het
Bloc1s6	T	C	2: 122,584,604 (GRCm39)	Y60H	probably damaging	Het
Ccdc125	A	T	13: 100,820,790 (GRCm39)		probably benign	Het
Cxcl16	A	T	11: 70,349,892 (GRCm39)	Y45N	possibly damaging	Het
Dnajb3	T	A	1: 88,133,249 (GRCm39)	Q51L	probably benign	Het
Ear10	A	G	14: 44,160,726 (GRCm39)	F34L	probably damaging	Het
Fgf11	A	G	11: 69,690,498 (GRCm39)	S100P	possibly damaging	Het
Fpgs	G	A	2: 32,575,891 (GRCm39)		probably benign	Het
Fyb1	A	T	15: 6,609,527 (GRCm39)	Q33H	probably damaging	Het
Ints3	G	T	3: 90,300,143 (GRCm39)	H925N	probably damaging	Het
Krt16	T	C	11: 100,138,402 (GRCm39)	K249E	probably damaging	Het
Lrp2	A	T	2: 69,382,794 (GRCm39)	S30R	possibly damaging	Het
Naa35	T	C	13: 59,756,668 (GRCm39)		probably benign	Het
Or11g27	A	G	14: 50,770,970 (GRCm39)	I34V	probably benign	Het
Or1e22	A	G	11: 73,376,817 (GRCm39)	Y278H	probably damaging	Het
Or8g2b	A	G	9: 39,751,533 (GRCm39)	M268V	probably benign	Het
Osbpl6	A	G	2: 76,426,214 (GRCm39)		probably benign	Het
Pramel6	A	T	2: 87,340,736 (GRCm39)	Q356L	probably damaging	Het
Prima1	A	G	12: 103,163,575 (GRCm39)	V132A	probably benign	Het
Rdh11	A	G	12: 79,235,828 (GRCm39)	V40A	possibly damaging	Het
Rin1	C	T	19: 5,103,198 (GRCm39)	R485C	probably damaging	Het
Rnf40	C	A	7: 127,190,601 (GRCm39)	S255*	probably null	Het
Spata24	C	A	18: 35,789,805 (GRCm39)	R194L	probably benign	Het
Spata31h1	C	T	10: 82,119,654 (GRCm39)	S482N	probably damaging	Het
Tas1r1	A	T	4: 152,112,735 (GRCm39)	S773T	probably damaging	Het
Trdv5	G	T	14: 54,386,429 (GRCm39)		probably benign	Het
Trpc3	A	C	3: 36,694,850 (GRCm39)	D701E	probably benign	Het
Vim	A	G	2: 13,585,491 (GRCm39)	R424G	probably damaging	Het
Vmn1r216	A	C	13: 23,283,649 (GRCm39)	T111P	probably damaging	Het
Zbtb26	A	C	2: 37,326,261 (GRCm39)	N247K	probably benign	Het
Zfp629	T	G	7: 127,209,203 (GRCm39)		probably benign	Het

Other mutations in Psme1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02532:Psme1	APN	14	55,818,595 (GRCm39)	nonsense	probably null
IGL02889:Psme1	APN	14	55,817,383 (GRCm39)	splice site	probably benign
IGL03257:Psme1	APN	14	55,818,086 (GRCm39)	missense	probably damaging	1.00
R0491:Psme1	UTSW	14	55,817,378 (GRCm39)	splice site	probably benign
R1078:Psme1	UTSW	14	55,818,107 (GRCm39)	missense	probably damaging	1.00
R1597:Psme1	UTSW	14	55,818,222 (GRCm39)	missense	probably damaging	1.00
R7620:Psme1	UTSW	14	55,817,797 (GRCm39)	nonsense	probably null
R8050:Psme1	UTSW	14	55,817,056 (GRCm39)	missense	possibly damaging	0.86
R8903:Psme1	UTSW	14	55,817,853 (GRCm39)	missense
R9022:Psme1	UTSW	14	55,817,271 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-12-18