Mutagenetix > Incidental Mutation

Incidental Mutation 'R9235:Psme3'

700440

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.945) question?

Stock #

R9235 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101207039-101214363 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 101211594 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 213 (E213D)

Ref Sequence

ENSEMBL: ENSMUSP00000019470 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019470] [ENSMUST00000041095] [ENSMUST00000107264] [ENSMUST00000142640] [ENSMUST00000151385]

AlphaFold

P61290

Predicted Effect

possibly damaging
Transcript: ENSMUST00000019470
AA Change: E213D

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000019470
Gene: ENSMUSG00000078652
AA Change: E213D

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

probably benign
Transcript: ENSMUST00000041095

SMART Domains

Protein: ENSMUSP00000040255
Gene: ENSMUSG00000078651

Domain	Start	End	E-Value	Type
transmembrane domain	5	26	N/A	INTRINSIC
Pfam:Cu_amine_oxidN2	62	148	1.7e-29	PFAM
Pfam:Cu_amine_oxidN3	165	263	5.7e-22	PFAM
Pfam:Cu_amine_oxid	309	718	3.7e-110	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107264

SMART Domains

Protein: ENSMUSP00000102885
Gene: ENSMUSG00000078651

Domain	Start	End	E-Value	Type
transmembrane domain	5	26	N/A	INTRINSIC
Pfam:Cu_amine_oxidN2	62	148	8.2e-24	PFAM
Pfam:Cu_amine_oxidN3	165	263	9.9e-20	PFAM
Pfam:Cu_amine_oxid	308	605	5.9e-86	PFAM
Pfam:Cu_amine_oxid	600	694	7.3e-26	PFAM

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

0.1500

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (59/59)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	A	18: 6,623,518 (GRCm39)	I76N	possibly damaging	Het
4930558K02Rik	T	C	1: 161,780,172 (GRCm39)	H114R	possibly damaging	Het
C2	T	C	17: 35,083,845 (GRCm39)	D414G	probably damaging	Het
Catsper4	C	T	4: 133,954,606 (GRCm39)	D15N	probably benign	Het
Ccnb2	A	G	9: 70,318,163 (GRCm39)	V203A	probably damaging	Het
Cd2	A	G	3: 101,195,159 (GRCm39)	F13L	probably benign	Het
Cwf19l1	G	A	19: 44,113,275 (GRCm39)	A227V	probably damaging	Het
Dis3l2	G	A	1: 86,749,061 (GRCm39)	D176N	possibly damaging	Het
Dmpk	T	G	7: 18,822,141 (GRCm39)	N366K	probably damaging	Het
Dnajb12	C	T	10: 59,728,799 (GRCm39)	T229I	probably benign	Het
Efcab3	A	G	11: 104,907,987 (GRCm39)	D4479G	probably benign	Het
Fat3	T	A	9: 15,833,674 (GRCm39)	E126V	probably null	Het
Fbxo27	T	A	7: 28,397,756 (GRCm39)	Y264*	probably null	Het
Fign	A	G	2: 63,810,907 (GRCm39)	M121T	probably damaging	Het
Flt3	T	C	5: 147,320,202 (GRCm39)	Y54C	possibly damaging	Het
Frmd4a	G	A	2: 4,599,366 (GRCm39)	R460H	probably damaging	Het
Igkv4-53	A	T	6: 69,626,301 (GRCm39)	I13N	possibly damaging	Het
Islr	T	A	9: 58,064,944 (GRCm39)	I188F	possibly damaging	Het
Klk15	C	T	7: 43,587,790 (GRCm39)	H73Y	possibly damaging	Het
Klra3	A	T	6: 130,311,218 (GRCm39)	C54*	probably null	Het
Klrb1b	A	G	6: 128,795,547 (GRCm39)	F140S	probably damaging	Het
Kmt2c	T	C	5: 25,504,997 (GRCm39)	E3437G	probably damaging	Het
Mdn1	C	A	4: 32,739,122 (GRCm39)	L3648I	probably benign	Het
Mlxipl	C	A	5: 135,157,541 (GRCm39)	T359K	possibly damaging	Het
Morc3	T	C	16: 93,659,321 (GRCm39)	W410R	probably damaging	Het
Mrpl49	G	A	19: 6,105,147 (GRCm39)	R105*	probably null	Het
Myom3	T	A	4: 135,541,653 (GRCm39)	Y1415N	probably damaging	Het
Nlgn3	T	C	X: 100,352,390 (GRCm39)	V179A	probably damaging	Het
Nrap	A	T	19: 56,330,760 (GRCm39)	Y1100*	probably null	Het
Or14a257	A	T	7: 86,138,306 (GRCm39)	V151E	probably benign	Het
Or5d43	A	T	2: 88,104,724 (GRCm39)	I223N	probably damaging	Het
Or5t5	T	C	2: 86,616,548 (GRCm39)	I158T	probably benign	Het
Or6c8b	G	T	10: 128,882,051 (GRCm39)	Q294K	probably benign	Het
Pank1	C	A	19: 34,856,197 (GRCm39)	A94S	probably benign	Het
Pikfyve	C	A	1: 65,299,188 (GRCm39)	T1613K	probably benign	Het
Plbd2	T	A	5: 120,626,554 (GRCm39)	I352L	probably benign	Het
Plec	T	C	15: 76,059,701 (GRCm39)	D3412G	probably damaging	Het
Plekhd1	T	A	12: 80,768,791 (GRCm39)	Y425N	possibly damaging	Het
Plscr5	A	G	9: 92,086,417 (GRCm39)	N129S	possibly damaging	Het
Prkdc	T	A	16: 15,651,751 (GRCm39)	M3796K	probably damaging	Het
Ptprn2	G	A	12: 117,233,271 (GRCm39)		probably null	Het
Sema5a	A	G	15: 32,619,034 (GRCm39)	S521G	probably benign	Het
Slc34a2	A	T	5: 53,226,667 (GRCm39)	M597L	probably benign	Het
Slc6a13	A	G	6: 121,301,984 (GRCm39)	R189G	probably damaging	Het
Smyd4	G	A	11: 75,295,689 (GRCm39)	E782K	probably benign	Het
Sspo	T	A	6: 48,466,718 (GRCm39)	C4078S	probably damaging	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Trim28	G	A	7: 12,763,490 (GRCm39)	A544T	probably benign	Het
Ttc21a	G	T	9: 119,774,559 (GRCm39)	R271L	probably benign	Het
Ubr5	A	G	15: 38,045,982 (GRCm39)	L114P		Het
Ugt1a2	A	G	1: 88,128,488 (GRCm39)	R44G	possibly damaging	Het
Ulk4	G	A	9: 120,981,217 (GRCm39)	T907I	probably benign	Het
Unc13a	G	T	8: 72,115,912 (GRCm39)	L97I	probably benign	Het
Uqcc6	A	T	10: 82,458,586 (GRCm39)	C22S	possibly damaging	Het
Vmn1r25	A	G	6: 57,955,488 (GRCm39)	L267P	probably damaging	Het
Vmn2r101	T	A	17: 19,810,238 (GRCm39)	N341K	probably damaging	Het
Wdr3	T	A	3: 100,054,023 (GRCm39)	Q534L	probably benign	Het
Zfp28	A	T	7: 6,397,605 (GRCm39)	H680L	probably damaging	Het
Zfp986	T	A	4: 145,625,759 (GRCm39)	F140I	probably benign	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
R0747:Psme3	UTSW	11	101,207,872 (GRCm39)	missense	probably benign	0.04
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
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

PCR Primer
(F):5'- TTCAGGGTCTTTTCAGCTGC -3'
(R):5'- TCTCTACTCCATGCTGATGAAC -3'

Sequencing Primer
(F):5'- GAGCCAAATTGGTTTCTAAAATAGC -3'
(R):5'- GATGAACAGCTCTCTCTGTACC -3'

Posted On

2022-02-07