Mutagenetix > Incidental Mutation

Incidental Mutation 'R0747:Psme3'

474035

Institutional Source

Beutler Lab

Gene Symbol

Psme3

Ensembl Gene

ENSMUSG00000078652

Gene Name

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

Synonyms

pa28g, REGgamma, PA28gamma, Ki

MMRRC Submission

038928-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.945) question?

Stock #

R0747 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101207039-101214363 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 101207872 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 9 (M9R)

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
AA Change: M23R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000118279
Gene: ENSMUSG00000078652
AA Change: M23R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000151385
AA Change: M9R

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000116996
Gene: ENSMUSG00000078652
AA Change: M9R

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 94.8%

Validation Efficiency

100% (50/50)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	A	T	11: 46,009,322 (GRCm39)		probably null	Het
Anks4b	C	T	7: 119,781,386 (GRCm39)	A139V	probably damaging	Het
Arf1	G	A	11: 59,103,461 (GRCm39)	R149C	probably benign	Het
Axl	A	T	7: 25,463,484 (GRCm39)	C598S	possibly damaging	Het
B3gnt2	T	C	11: 22,786,316 (GRCm39)	I291V	possibly damaging	Het
Ccdc158	T	A	5: 92,781,156 (GRCm39)	H883L	probably benign	Het
Cep15	T	A	14: 12,287,287 (GRCm38)	M16K	probably benign	Het
Col6a3	A	G	1: 90,730,375 (GRCm39)	S1644P	probably damaging	Het
Cspg4	T	C	9: 56,797,564 (GRCm39)	S1343P	probably damaging	Het
D430041D05Rik	G	T	2: 104,060,651 (GRCm39)	H1414Q	probably damaging	Het
Dnah5	C	G	15: 28,444,332 (GRCm39)	I4043M	probably damaging	Het
Dnah5	T	A	15: 28,444,333 (GRCm39)	C4044S	possibly damaging	Het
Dpep3	C	T	8: 106,704,018 (GRCm39)	A267T	probably benign	Het
Dync1h1	A	C	12: 110,578,845 (GRCm39)	H106P	probably benign	Het
Dync1h1	A	C	12: 110,595,718 (GRCm39)	E1466A	probably damaging	Het
Fggy	T	C	4: 95,700,337 (GRCm39)		probably benign	Het
Frmd6	A	G	12: 70,910,830 (GRCm39)	T5A	probably benign	Het
Gnb5	G	A	9: 75,218,752 (GRCm39)	V26I	probably benign	Het
Hephl1	A	T	9: 14,965,297 (GRCm39)		probably benign	Het
Hmmr	C	T	11: 40,612,572 (GRCm39)		probably benign	Het
Hpn	A	T	7: 30,798,971 (GRCm39)	F356Y	probably damaging	Het
Iqgap3	T	C	3: 88,014,810 (GRCm39)		probably benign	Het
Ism2	A	G	12: 87,332,172 (GRCm39)		probably benign	Het
Kansl1	T	A	11: 104,233,802 (GRCm39)	M754L	probably benign	Het
Kcnc4	A	T	3: 107,355,470 (GRCm39)	I326N	probably damaging	Het
Lcn6	G	A	2: 25,567,184 (GRCm39)	V62M	probably damaging	Het
Lrp1b	A	T	2: 40,760,353 (GRCm39)	C2858S	probably damaging	Het
Lyn	G	A	4: 3,745,638 (GRCm39)		probably benign	Het
Mov10	T	A	3: 104,709,812 (GRCm39)	H358L	probably benign	Het
Notch1	A	G	2: 26,362,152 (GRCm39)	V60A	unknown	Het
Or2t6	C	T	14: 14,175,429 (GRCm38)	A218T	probably benign	Het
Pgap2	C	A	7: 101,886,343 (GRCm39)	Y176*	probably null	Het
Pglyrp1	A	G	7: 18,624,200 (GRCm39)	Q161R	possibly damaging	Het
Plod3	A	G	5: 137,017,049 (GRCm39)	N66S	probably benign	Het
Psmc3	A	G	2: 90,884,645 (GRCm39)	E18G	probably benign	Het
Rapgef4	A	G	2: 72,053,417 (GRCm39)	N428S	possibly damaging	Het
Rbp3	A	G	14: 33,678,235 (GRCm39)	I728V	possibly damaging	Het
Sall4	A	T	2: 168,596,886 (GRCm39)	H651Q	probably damaging	Het
Skint3	T	A	4: 112,111,102 (GRCm39)	Y76N	probably damaging	Het
Slc13a4	T	C	6: 35,255,263 (GRCm39)	T342A	probably damaging	Het
Slc25a1	G	T	16: 17,744,084 (GRCm39)	T239K	probably damaging	Het
Slc36a2	T	A	11: 55,060,685 (GRCm39)	I242F	probably benign	Het
Tekt2	G	A	4: 126,217,553 (GRCm39)	Q171*	probably null	Het
Tet2	T	G	3: 133,173,231 (GRCm39)	H1677P	possibly damaging	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Trcg1	C	T	9: 57,149,204 (GRCm39)	P259S	probably benign	Het
Ttn	A	C	2: 76,540,942 (GRCm39)	S25688A	probably damaging	Het
Vmn2r117	T	A	17: 23,694,477 (GRCm39)	R457*	probably null	Het
Zbbx	C	T	3: 75,062,734 (GRCm39)	V8I	probably damaging	Het

Other mutations in Psme3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02474:Psme3	APN	11	101,208,480 (GRCm39)	missense	probably benign	0.09
IGL03380:Psme3	APN	11	101,210,852 (GRCm39)	critical splice donor site	probably null
R0432:Psme3	UTSW	11	101,211,268 (GRCm39)	missense	possibly damaging	0.84
R0545:Psme3	UTSW	11	101,210,730 (GRCm39)	splice site	probably benign
R3889:Psme3	UTSW	11	101,210,282 (GRCm39)	missense	probably damaging	0.96
R4603:Psme3	UTSW	11	101,208,435 (GRCm39)	splice site	probably null
R4849:Psme3	UTSW	11	101,207,907 (GRCm39)	missense	probably benign	0.00
R8693:Psme3	UTSW	11	101,211,422 (GRCm39)	missense	probably damaging	0.98
R9235:Psme3	UTSW	11	101,211,594 (GRCm39)	missense	possibly damaging	0.95
R9322:Psme3	UTSW	11	101,211,437 (GRCm39)	missense	probably damaging	1.00
R9416:Psme3	UTSW	11	101,211,559 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2017-04-14