Mutagenetix > Incidental Mutation

Incidental Mutation 'R9633:Psmb9'

725682

Institutional Source

Beutler Lab

Gene Symbol

Psmb9

Ensembl Gene

ENSMUSG00000096727

Gene Name

proteasome (prosome, macropain) subunit, beta type 9 (large multifunctional peptidase 2)

Synonyms

Lmp-2, Lmp2

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.212) question?

Stock #

R9633 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34401006-34406347 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34402119 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 159 (D159V)

Ref Sequence

ENSEMBL: ENSMUSP00000133499 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041633] [ENSMUST00000170086] [ENSMUST00000171321] [ENSMUST00000173831] [ENSMUST00000174576]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000041633

SMART Domains

Protein: ENSMUSP00000039264
Gene: ENSMUSG00000037321

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
transmembrane domain	37	59	N/A	INTRINSIC
transmembrane domain	66	88	N/A	INTRINSIC
transmembrane domain	116	138	N/A	INTRINSIC
Pfam:ABC_membrane	163	420	9.1e-55	PFAM
AAA	478	666	2.21e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000170086

SMART Domains

Protein: ENSMUSP00000128401
Gene: ENSMUSG00000037321

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
transmembrane domain	37	59	N/A	INTRINSIC
transmembrane domain	66	88	N/A	INTRINSIC
transmembrane domain	116	138	N/A	INTRINSIC
Pfam:ABC_membrane	163	434	5.8e-70	PFAM
AAA	506	694	2.21e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000171321

Predicted Effect

probably benign
Transcript: ENSMUST00000173831

SMART Domains

Protein: ENSMUSP00000134120
Gene: ENSMUSG00000096727

Domain	Start	End	E-Value	Type
Pfam:Proteasome	1	64	2.3e-17	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000174576
AA Change: D159V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133499
Gene: ENSMUSG00000096727
AA Change: D159V

Domain	Start	End	E-Value	Type
Pfam:Proteasome	17	198	1.2e-45	PFAM

Coding Region Coverage

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

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure 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. 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. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. This gene is located in the class II region of the MHC (major histocompatibility complex). Expression of this gene is induced by gamma interferon and this gene product replaces catalytic subunit 1 (proteasome beta 6 subunit) in the immunoproteasome. Proteolytic processing is required to generate a mature subunit. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene have a grossly normal phenotype but suffer from increased susceptibility to some viruses and have an increased risk of tumor development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot11	A	G	4: 106,613,178 (GRCm39)	V319A	probably damaging	Het
Afap1l1	A	C	18: 61,890,795 (GRCm39)	S53A	possibly damaging	Het
Alms1	T	A	6: 85,600,125 (GRCm39)	N1650K	probably damaging	Het
Atf6b	T	A	17: 34,872,507 (GRCm39)	V553E	possibly damaging	Het
Avl9	T	A	6: 56,707,634 (GRCm39)	I193N	probably damaging	Het
Ceacam3	A	G	7: 16,895,688 (GRCm39)	N553D		Het
Dnah3	C	A	7: 119,550,216 (GRCm39)	V389L	probably benign	Het
Erich6	T	C	3: 58,537,277 (GRCm39)	M246V	probably benign	Het
F830016B08Rik	A	T	18: 60,432,965 (GRCm39)	D16V	probably damaging	Het
Fgfr1	T	A	8: 26,060,776 (GRCm39)	Y483N	probably damaging	Het
Fmo4	T	A	1: 162,631,191 (GRCm39)	M259L	probably benign	Het
Gnat2	T	A	3: 108,002,770 (GRCm39)	D59E	probably benign	Het
Izumo3	T	A	4: 92,034,795 (GRCm39)	Y94F	probably damaging	Het
Kcnb2	A	T	1: 15,781,444 (GRCm39)	H772L	probably benign	Het
Kcnrg	CACAACAA	CACAA	14: 61,845,009 (GRCm39)		probably benign	Het
Krt6b	C	T	15: 101,586,996 (GRCm39)	V259M	probably benign	Het
Lingo2	A	G	4: 35,709,885 (GRCm39)	C32R		Het
Lrrtm4	C	T	6: 80,000,064 (GRCm39)	T492M	probably damaging	Het
Maea	T	A	5: 33,526,050 (GRCm39)	M242K	possibly damaging	Het
Mdga2	T	C	12: 66,736,206 (GRCm39)	T341A	probably benign	Het
Mfsd14b	C	A	13: 65,221,414 (GRCm39)	V293L	probably benign	Het
Mmadhc	A	T	2: 50,178,988 (GRCm39)	S143R	probably benign	Het
Ms4a8a	A	G	19: 11,056,956 (GRCm39)	V42A	probably benign	Het
N4bp2l2	A	T	5: 150,585,103 (GRCm39)	H292Q	probably benign	Het
Nkx2-2	A	G	2: 147,027,686 (GRCm39)	Y85H	possibly damaging	Het
Pramel14	T	C	4: 143,720,818 (GRCm39)	K41R	possibly damaging	Het
Rgs4	T	A	1: 169,572,843 (GRCm39)	D31V	possibly damaging	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Slc22a14	A	G	9: 119,008,528 (GRCm39)	S247P	probably benign	Het
Slc26a7	G	A	4: 14,524,540 (GRCm39)	T448I	possibly damaging	Het
Slc7a14	T	A	3: 31,278,166 (GRCm39)	T480S	probably benign	Het
Spocd1	T	C	4: 129,850,463 (GRCm39)	S830P	unknown	Het
Sycp2	A	G	2: 177,998,254 (GRCm39)	S1089P	probably damaging	Het
Tcf4	A	T	18: 69,726,382 (GRCm39)		probably benign	Het
Tktl2	T	C	8: 66,965,813 (GRCm39)	V457A	probably benign	Het
Tmem131	A	T	1: 36,847,069 (GRCm39)	I1343N	probably damaging	Het
Tnrc6c	G	A	11: 117,638,009 (GRCm39)	A1164T	probably damaging	Het
Tomm5	G	A	4: 45,107,982 (GRCm39)	R18W	probably damaging	Het
Ubxn7	T	C	16: 32,200,248 (GRCm39)	S335P	probably benign	Het
Unc5c	A	C	3: 141,495,654 (GRCm39)	T508P	probably damaging	Het
Upp1	G	A	11: 9,084,909 (GRCm39)	M209I		Het
Vmn1r213	A	G	13: 23,195,519 (GRCm39)	D34G	unknown	Het
Vmn1r235	G	T	17: 21,482,330 (GRCm39)	W218C	possibly damaging	Het
Vmn1r235	G	T	17: 21,482,329 (GRCm39)	W218L	probably benign	Het
Vmn2r57	T	C	7: 41,076,006 (GRCm39)	E502G	probably benign	Het
Wwc2	GCC	GCCC	8: 48,304,959 (GRCm39)		probably null	Het
Zfc3h1	T	A	10: 115,247,852 (GRCm39)	H1018Q	probably damaging	Het
Zfp318	T	A	17: 46,710,421 (GRCm39)	S715T	probably damaging	Het

Other mutations in Psmb9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02008:Psmb9	APN	17	34,402,653 (GRCm39)	missense	probably damaging	1.00
bias	UTSW	17	34,402,199 (GRCm39)	nonsense	probably null
preconception	UTSW	17	34,402,588 (GRCm39)	critical splice donor site	probably null
R0021:Psmb9	UTSW	17	34,403,277 (GRCm39)	missense	probably benign	0.26
R0105:Psmb9	UTSW	17	34,406,249 (GRCm39)	missense	probably benign
R0477:Psmb9	UTSW	17	34,401,238 (GRCm39)	missense	probably damaging	0.99
R3919:Psmb9	UTSW	17	34,402,588 (GRCm39)	critical splice donor site	probably null
R5898:Psmb9	UTSW	17	34,401,266 (GRCm39)	missense	probably damaging	0.97
R5943:Psmb9	UTSW	17	34,403,265 (GRCm39)	missense	probably damaging	0.99
R6408:Psmb9	UTSW	17	34,404,707 (GRCm39)	missense	probably damaging	1.00
R6919:Psmb9	UTSW	17	34,402,199 (GRCm39)	nonsense	probably null
R8512:Psmb9	UTSW	17	34,402,602 (GRCm39)	missense	probably benign
R9105:Psmb9	UTSW	17	34,401,905 (GRCm39)	intron	probably benign
R9304:Psmb9	UTSW	17	34,406,222 (GRCm39)	critical splice donor site	probably null
R9454:Psmb9	UTSW	17	34,402,078 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AAAGCTTCGACACGGAATGG -3'
(R):5'- AGTTCCTCTAAAGACATCCTACAGC -3'

Sequencing Primer
(F):5'- GGAATGGCCACCCTTGTATTTC -3'
(R):5'- GGTATGAAGAACCTGCTCTCTAG -3'

Posted On

2022-09-12