Mutagenetix > Incidental Mutation

Incidental Mutation 'R7620:Psme1'

589114

Institutional Source

Beutler Lab

Gene Symbol

Psme1

Ensembl Gene

ENSMUSG00000022216

Gene Name

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

Synonyms

PA28a

MMRRC Submission

045687-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7620 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55815951-55818984 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 55817797 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 101 (C101*)

Ref Sequence

ENSEMBL: ENSMUSP00000134735 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022826] [ENSMUST00000022828] [ENSMUST00000089619] [ENSMUST00000172738] [ENSMUST00000174259] [ENSMUST00000174484] [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 null
Transcript: ENSMUST00000089619
AA Change: C101*

SMART Domains

Protein: ENSMUSP00000087046
Gene: ENSMUSG00000022216
AA Change: C101*

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

probably null
Transcript: ENSMUST00000172738
AA Change: C101*

SMART Domains

Protein: ENSMUSP00000133867
Gene: ENSMUSG00000022216
AA Change: C101*

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

probably null
Transcript: ENSMUST00000174259
AA Change: C101*

SMART Domains

Protein: ENSMUSP00000134735
Gene: ENSMUSG00000022216
AA Change: C101*

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: 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

Predicted Effect

probably null
Transcript: ENSMUST00000174484
AA Change: C101*

SMART Domains

Protein: ENSMUSP00000133883
Gene: ENSMUSG00000022216
AA Change: C101*

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 null
Transcript: ENSMUST00000174563
AA Change: C90*

SMART Domains

Protein: ENSMUSP00000133366
Gene: ENSMUSG00000022216
AA Change: C90*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (43/44)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adnp2	T	C	18: 80,173,702 (GRCm39)	T236A	probably damaging	Het
Alkbh7	A	G	17: 57,304,551 (GRCm39)	Y63C	probably damaging	Het
Calhm6	A	T	10: 34,003,614 (GRCm39)	C98S	probably damaging	Het
Ccr9	T	A	9: 123,608,911 (GRCm39)	C198S	probably damaging	Het
Chil3	T	A	3: 106,067,751 (GRCm39)	D138V	probably damaging	Het
Cntd1	A	T	11: 101,174,240 (GRCm39)	E66D	probably benign	Het
Cpz	A	T	5: 35,669,194 (GRCm39)	N312K	possibly damaging	Het
Crat	A	G	2: 30,298,090 (GRCm39)	I203T	probably damaging	Het
Cyp2j13	T	A	4: 95,944,899 (GRCm39)	H410L	probably benign	Het
Cyp39a1	G	A	17: 44,036,544 (GRCm39)		probably null	Het
Dnah1	A	T	14: 31,025,863 (GRCm39)	I828N	possibly damaging	Het
Dnah7b	A	G	1: 46,307,794 (GRCm39)	D3036G	probably damaging	Het
Dnpep	A	G	1: 75,290,092 (GRCm39)	V295A	probably benign	Het
Efcab3	T	A	11: 104,722,969 (GRCm39)	S1942T	possibly damaging	Het
Fam111a	A	G	19: 12,565,301 (GRCm39)	D394G	possibly damaging	Het
Fat1	A	G	8: 45,462,887 (GRCm39)	K1235E	possibly damaging	Het
Gabre	C	A	X: 71,313,865 (GRCm39)	Q311H	unknown	Het
Garem1	T	C	18: 21,262,898 (GRCm39)	S639G	probably benign	Het
Gsdma	A	G	11: 98,557,429 (GRCm39)	T123A	probably benign	Het
Iqcb1	A	G	16: 36,676,772 (GRCm39)	N369S	probably benign	Het
Lepr	G	T	4: 101,609,270 (GRCm39)	V286F	probably benign	Het
Lgsn	T	C	1: 31,242,461 (GRCm39)	M181T	probably benign	Het
Mapk15	T	G	15: 75,870,697 (GRCm39)	S512A	probably benign	Het
Mcm3ap	A	G	10: 76,306,267 (GRCm39)	T127A	probably benign	Het
Msto1	A	G	3: 88,818,614 (GRCm39)	F315L	possibly damaging	Het
Myo5a	T	A	9: 75,071,418 (GRCm39)	D673E	probably benign	Het
Nup88	G	C	11: 70,860,605 (GRCm39)	P58R	probably benign	Het
Or4x12-ps1	A	C	2: 89,915,977 (GRCm39)	I276R	probably damaging	Het
Or52e15	C	A	7: 104,645,962 (GRCm39)	V50L	possibly damaging	Het
Pierce1	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,356,122 (GRCm39)		probably benign	Het
Ppp1r18	T	C	17: 36,178,191 (GRCm39)	V22A	probably benign	Het
Rapgef4	G	T	2: 72,059,422 (GRCm39)	C743F	probably damaging	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Rnmt	T	A	18: 68,447,105 (GRCm39)	Y330N	probably damaging	Het
Skint10	T	A	4: 112,573,014 (GRCm39)	M261L	possibly damaging	Het
Slc35b1	T	C	11: 95,278,691 (GRCm39)	Y192H	probably damaging	Het
Socs3	A	G	11: 117,858,396 (GRCm39)	Y221H	probably damaging	Het
Spink12	A	G	18: 44,237,684 (GRCm39)		probably benign	Het
Sspo	T	C	6: 48,444,020 (GRCm39)		probably null	Het
Trp73	G	A	4: 154,143,714 (GRCm39)	Q551*	probably null	Het
Vmn2r45	C	T	7: 8,486,222 (GRCm39)	W355*	probably null	Het
Wdr35	A	G	12: 9,066,042 (GRCm39)	I678V	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
IGL02867:Psme1	APN	14	55,817,383 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- AGAGAGCATCAGCCTCAGTC -3'
(R):5'- CTTGGAGCAAAGAACGCGTC -3'

Sequencing Primer
(F):5'- GAGCATCAGCCTCAGTCCTGTC -3'
(R):5'- CAAAGAACGCGTCTTGGCTTTATC -3'

Posted On

2019-10-24