Mutagenetix > Incidental Mutation

Incidental Mutation 'R0545:Psme3'

44775

Institutional Source

Beutler Lab

Gene Symbol

Psme3

Ensembl Gene

ENSMUSG00000078652

Gene Name

proteaseome (prosome, macropain) activator subunit 3 (PA28 gamma, Ki)

Synonyms

pa28g, Ki, PA28gamma, REGgamma

MMRRC Submission

038737-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.931) question?

Stock #

R0545 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101316213-101323537 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 101319904 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116996 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019470] [ENSMUST00000142640] [ENSMUST00000151385]

AlphaFold

P61290

Predicted Effect

probably benign
Transcript: ENSMUST00000019470

SMART Domains

Protein: ENSMUSP00000019470
Gene: ENSMUSG00000078652

Domain	Start	End	E-Value	Type
Pfam:PA28_alpha	9	69	2.9e-30	PFAM
Pfam:PA28_beta	108	252	3e-68	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127998

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131170

Predicted Effect

probably benign
Transcript: ENSMUST00000142640

SMART Domains

Protein: ENSMUSP00000118279
Gene: ENSMUSG00000078652

Domain	Start	End	E-Value	Type
Pfam:PA28_alpha	31	95	8.4e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000151385

SMART Domains

Protein: ENSMUSP00000116996
Gene: ENSMUSG00000078652

Domain	Start	End	E-Value	Type
Pfam:PA28_alpha	17	81	1.5e-32	PFAM
Pfam:PA28_beta	116	203	5.6e-40	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.9%
20x: 94.0%

Validation Efficiency

99% (66/67)

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 gamma subunit of the 11S regulator. Six gamma subunits combine to form a homohexameric ring. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012]
PHENOTYPE: Homozygous null mutants are smaller than normal with a defect in cell proliferation and increased susceptibility to fungal infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	C	T	2: 19,542,376	R76H	probably damaging	Het
4932438A13Rik	G	A	3: 36,987,690		probably benign	Het
Adnp2	T	C	18: 80,129,401	I598V	probably benign	Het
Ago3	T	C	4: 126,417,232	N63D	probably damaging	Het
Alkbh7	C	T	17: 56,999,012	R138*	probably null	Het
Atp6ap1l	T	C	13: 90,883,663	H300R	probably benign	Het
BC051076	C	T	5: 87,963,490		noncoding transcript	Het
Bpifb9a	T	A	2: 154,261,950	C104*	probably null	Het
Cacna2d2	T	C	9: 107,525,223	L826P	probably damaging	Het
Car5b	G	A	X: 163,979,301	R282C	probably damaging	Het
Ccdc88c	T	C	12: 100,947,188	D526G	probably damaging	Het
Cdh23	T	A	10: 60,331,291	T1861S	probably benign	Het
Ces2f	A	C	8: 104,950,036	M121L	possibly damaging	Het
Cfap58	G	A	19: 47,941,097		probably benign	Het
Chpf2	T	C	5: 24,590,324	S282P	possibly damaging	Het
Cluap1	C	T	16: 3,933,772	R332W	probably damaging	Het
Cma2	A	T	14: 55,973,113	M86L	probably benign	Het
Cog6	A	T	3: 52,996,075	M134K	probably damaging	Het
Col1a1	A	G	11: 94,951,594	D1446G	unknown	Het
Cpne8	T	A	15: 90,497,075	D512V	probably damaging	Het
Ctnna2	T	A	6: 77,605,182	N352I	probably damaging	Het
Cyp2c69	A	C	19: 39,886,661	L16R	probably damaging	Het
Dysf	T	C	6: 84,099,461	S603P	probably damaging	Het
Epha5	A	G	5: 84,067,358		probably null	Het
Ercc3	T	C	18: 32,245,902	S270P	probably damaging	Het
F10	T	A	8: 13,048,249	C151S	probably damaging	Het
Gpr180	T	G	14: 118,160,046	H317Q	possibly damaging	Het
Gstp2	T	C	19: 4,041,633	E32G	possibly damaging	Het
Ikzf5	T	C	7: 131,392,500	T133A	possibly damaging	Het
Itch	G	T	2: 155,182,298	G274*	probably null	Het
Jarid2	T	A	13: 44,902,831	N365K	probably benign	Het
Lama3	T	A	18: 12,561,701	S1295T	possibly damaging	Het
Lipc	A	G	9: 70,812,705	L255P	probably damaging	Het
Lrrc38	A	G	4: 143,350,758	D197G	probably benign	Het
Mfap2	A	G	4: 141,014,185		probably benign	Het
Mfhas1	A	G	8: 35,589,048	K226E	probably damaging	Het
Morc1	A	G	16: 48,565,657	R548G	probably benign	Het
Mrgprb5	T	C	7: 48,168,885	N34S	probably benign	Het
Mroh4	T	C	15: 74,625,427	T182A	probably benign	Het
Mylk	G	C	16: 34,879,475	E403Q	possibly damaging	Het
Myo5a	T	C	9: 75,167,037	F743L	possibly damaging	Het
Notch4	A	C	17: 34,583,433	D1276A	probably damaging	Het
Olfr139	A	G	11: 74,045,047	C76R	possibly damaging	Het
Olfr215	T	A	6: 116,582,656	I97L	probably benign	Het
Olfr394	A	T	11: 73,888,017	Y118*	probably null	Het
Olfr799	T	A	10: 129,647,349	C74S	probably damaging	Het
Plin4	T	A	17: 56,106,567	T353S	probably damaging	Het
Ppp1r9a	A	G	6: 5,115,357	T827A	probably benign	Het
Prlr	C	T	15: 10,317,566	T40I	probably damaging	Het
Pygb	A	T	2: 150,815,706	D363V	probably benign	Het
Rsph6a	C	T	7: 19,054,946	Q68*	probably null	Het
Serpini2	A	G	3: 75,258,138	V178A	probably benign	Het
Sh2d2a	T	C	3: 87,851,888		probably benign	Het
Skint7	A	C	4: 111,980,198	M58L	probably benign	Het
Slco3a1	G	T	7: 74,320,553	Y435*	probably null	Het
Stk17b	T	C	1: 53,762,583		probably benign	Het
Tinag	T	A	9: 77,031,710	H162L	possibly damaging	Het
Ttc21a	T	A	9: 119,958,799	L811Q	probably damaging	Het
Ttc41	A	T	10: 86,759,097	M912L	probably benign	Het
Vmn2r98	G	T	17: 19,053,613	V41F	probably benign	Het
Washc5	C	T	15: 59,342,093	C838Y	possibly damaging	Het
Wrnip1	A	G	13: 32,806,813	T352A	probably damaging	Het
Zan	A	C	5: 137,396,177	C4467G	unknown	Het
Zc3h7a	T	C	16: 11,152,333		probably benign	Het
Zfp729a	C	A	13: 67,620,226	C628F	probably benign	Het

Other mutations in Psme3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02474:Psme3	APN	11	101317654	missense	probably benign	0.09
IGL03380:Psme3	APN	11	101320026	critical splice donor site	probably null
R0432:Psme3	UTSW	11	101320442	missense	possibly damaging	0.84
R0747:Psme3	UTSW	11	101317046	missense	probably benign	0.04
R3889:Psme3	UTSW	11	101319456	missense	probably damaging	0.96
R4603:Psme3	UTSW	11	101317609	splice site	probably null
R4849:Psme3	UTSW	11	101317081	missense	probably benign	0.00
R8693:Psme3	UTSW	11	101320596	missense	probably damaging	0.98
R9235:Psme3	UTSW	11	101320768	missense	possibly damaging	0.95
R9322:Psme3	UTSW	11	101320611	missense	probably damaging	1.00
R9416:Psme3	UTSW	11	101320733	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAAGCCATGCCTCACACTTGTC -3'
(R):5'- GCTGAACCCACATTTTGACCTGGAG -3'

Sequencing Primer
(F):5'- TTGTCACAGAGGCCCATAGTC -3'
(R):5'- CCACATTTTGACCTGGAGTATGAG -3'

Posted On

2013-06-11