Mutagenetix > Incidental Mutation

Incidental Mutation 'R6993:Psmb8'

544002

Institutional Source

Beutler Lab

Gene Symbol

Psmb8

Ensembl Gene

ENSMUSG00000024338

Gene Name

proteasome (prosome, macropain) subunit, beta type 8 (large multifunctional peptidase 7)

Synonyms

Lmp-7, Lmp7

MMRRC Submission

045099-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6993 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34417169-34420428 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34418617 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 123 (D123G)

Ref Sequence

ENSEMBL: ENSMUSP00000134664 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025196] [ENSMUST00000025197] [ENSMUST00000041633] [ENSMUST00000138491] [ENSMUST00000170086] [ENSMUST00000173441]

AlphaFold

P28063

Predicted Effect

probably damaging
Transcript: ENSMUST00000025196
AA Change: D123G

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

SMART Domains

Protein: ENSMUSP00000025196
Gene: ENSMUSG00000024338
AA Change: D123G

Domain	Start	End	E-Value	Type
Pfam:Proteasome	69	251	1.9e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000025197

SMART Domains

Protein: ENSMUSP00000025197
Gene: ENSMUSG00000024339

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
transmembrane domain	55	77	N/A	INTRINSIC
transmembrane domain	97	119	N/A	INTRINSIC
Pfam:ABC_membrane	151	419	1.8e-62	PFAM
AAA	494	678	2.58e-19	SMART

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: ENSMUST00000138491

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 damaging
Transcript: ENSMUST00000173441
AA Change: D123G

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

SMART Domains

Protein: ENSMUSP00000134664
Gene: ENSMUSG00000024338
AA Change: D123G

Domain	Start	End	E-Value	Type
Pfam:Proteasome	69	248	6.3e-53	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (66/67)

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 3 (proteasome beta 5 subunit) in the immunoproteasome. Proteolytic processing is required to generate a mature subunit. Two alternative transcripts encoding two isoforms have been identified; both isoforms are processed to yield the same mature subunit. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display an essentially normal phenotype. However they have a reduced ability to process MHC class I restricted antigens. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	T	C	8: 79,975,053 (GRCm39)	E10G	possibly damaging	Het
Akap9	A	G	5: 4,115,866 (GRCm39)	I3429V	possibly damaging	Het
Braf	T	A	6: 39,620,097 (GRCm39)	I441F	probably damaging	Het
C5ar1	A	T	7: 15,982,837 (GRCm39)	V61E	probably damaging	Het
Camk2a	C	A	18: 61,076,247 (GRCm39)		probably benign	Het
Cd163	A	G	6: 124,294,673 (GRCm39)	Y579C	probably damaging	Het
Celf1	T	C	2: 90,840,821 (GRCm39)	Y363H	probably damaging	Het
Cntn3	T	C	6: 102,255,365 (GRCm39)	T178A	probably damaging	Het
Cryab	C	T	9: 50,664,748 (GRCm39)	P58S	probably benign	Het
Ctsf	G	T	19: 4,908,511 (GRCm39)	R290L	probably benign	Het
Ctsw	T	A	19: 5,515,865 (GRCm39)	I258F	probably damaging	Het
Dnah7b	T	C	1: 46,234,299 (GRCm39)		probably null	Het
Drg1	TCATCTTCCA	TCA	11: 3,200,294 (GRCm39)		probably null	Het
Etfb	A	G	7: 43,105,978 (GRCm39)	T172A	possibly damaging	Het
Etfdh	A	G	3: 79,519,338 (GRCm39)	Y272H	probably benign	Het
Ewsr1	C	T	11: 5,021,573 (GRCm39)	R454Q	probably benign	Het
F2rl2	T	A	13: 95,837,642 (GRCm39)	I229N	probably damaging	Het
Fam162a	A	T	16: 35,870,215 (GRCm39)	I88N	probably damaging	Het
Fastkd5	A	G	2: 130,458,459 (GRCm39)	S44P	probably benign	Het
Fat3	T	G	9: 15,830,517 (GRCm39)	S4326R	probably damaging	Het
Fbf1	T	C	11: 116,043,610 (GRCm39)	K400E	probably benign	Het
Fndc7	A	G	3: 108,783,907 (GRCm39)	V234A	probably benign	Het
Gfi1	T	A	5: 107,865,634 (GRCm39)	H481L	probably damaging	Het
Gm5591	T	A	7: 38,218,647 (GRCm39)	H742L	probably benign	Het
Golm1	ACTTCTTCT	ACTTCT	13: 59,797,390 (GRCm39)		probably benign	Het
H2-DMb1	A	C	17: 34,376,324 (GRCm39)	T148P	possibly damaging	Het
H2-T3	A	G	17: 36,497,962 (GRCm39)	L317P	probably damaging	Het
Hes3	T	C	4: 152,371,380 (GRCm39)	T190A	probably benign	Het
Hivep1	C	T	13: 42,312,190 (GRCm39)	L1477F	possibly damaging	Het
Insr	C	T	8: 3,308,752 (GRCm39)	G95S	probably damaging	Het
Irf9	A	G	14: 55,846,414 (GRCm39)	I394V	probably benign	Het
Kat2b	T	C	17: 53,945,550 (GRCm39)	L323P	probably damaging	Het
Kdr	T	C	5: 76,133,071 (GRCm39)	D69G	probably benign	Het
Krt1c	C	T	15: 101,724,395 (GRCm39)	E290K	probably damaging	Het
Krtap4-6	G	T	11: 99,556,545 (GRCm39)	R61S	unknown	Het
Ldc1	A	G	4: 130,112,106 (GRCm39)	L192P	probably damaging	Het
Lrrc27	A	T	7: 138,822,540 (GRCm39)	K477M	probably damaging	Het
Lvrn	T	C	18: 47,015,365 (GRCm39)	V579A	probably benign	Het
Malrd1	A	T	2: 16,155,602 (GRCm39)	I2004L	unknown	Het
Mast4	A	T	13: 102,872,482 (GRCm39)	N2103K	probably benign	Het
Mast4	C	T	13: 102,941,155 (GRCm39)	V301I	probably damaging	Het
Myo18a	T	A	11: 77,749,900 (GRCm39)		probably benign	Het
Or10d5	T	A	9: 39,861,933 (GRCm39)	M45L	probably benign	Het
Or52ab2	G	T	7: 102,969,998 (GRCm39)		probably benign	Het
Pcdhga10	A	G	18: 37,882,309 (GRCm39)	Y690C	probably damaging	Het
Pdcd2	A	G	17: 15,747,343 (GRCm39)	Y65H	probably damaging	Het
Ppp1r12a	A	G	10: 108,076,698 (GRCm39)	E309G	probably benign	Het
Ptcd3	A	T	6: 71,862,299 (GRCm39)	W513R	probably damaging	Het
Ptx4	G	A	17: 25,343,898 (GRCm39)	V383I	possibly damaging	Het
Ric1	T	C	19: 29,564,013 (GRCm39)	L589S	probably damaging	Het
Rmnd5b	A	G	11: 51,515,427 (GRCm39)		probably benign	Het
Sec16a	A	T	2: 26,313,586 (GRCm39)	S1925T	probably damaging	Het
Slc16a11	T	A	11: 70,106,842 (GRCm39)	M360K	possibly damaging	Het
Slc19a2	T	A	1: 164,088,391 (GRCm39)	F79I	probably benign	Het
Slc2a6	G	T	2: 26,917,255 (GRCm39)	S45R	probably damaging	Het
Slco1a7	G	A	6: 141,711,468 (GRCm39)	T81I	possibly damaging	Het
Sppl3	T	A	5: 115,220,349 (GRCm39)	M87K	probably damaging	Het
Tbcel	A	T	9: 42,327,413 (GRCm39)	L330*	probably null	Het
Tbx5	A	T	5: 120,009,454 (GRCm39)	Y321F	possibly damaging	Het
Tenm3	C	T	8: 48,689,474 (GRCm39)	D2038N	probably damaging	Het
Tesk1	A	G	4: 43,447,006 (GRCm39)	T465A	probably benign	Het
Unc45a	A	T	7: 79,975,403 (GRCm39)	Y934N	probably damaging	Het
Unc80	A	T	1: 66,588,952 (GRCm39)	Q1039L	possibly damaging	Het
Vmn2r112	T	C	17: 22,822,195 (GRCm39)	L291P	probably benign	Het
Wwc2	A	T	8: 48,300,500 (GRCm39)	F988I	unknown	Het
Zfp947	G	A	17: 22,364,961 (GRCm39)	P238S	probably benign	Het

Other mutations in Psmb8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00817:Psmb8	APN	17	34,419,703 (GRCm39)	missense	probably damaging	0.97
IGL01153:Psmb8	APN	17	34,420,215 (GRCm39)	missense	possibly damaging	0.82
IGL01307:Psmb8	APN	17	34,418,210 (GRCm39)	missense	probably benign
IGL01394:Psmb8	APN	17	34,419,703 (GRCm39)	missense	probably damaging	1.00
IGL01821:Psmb8	APN	17	34,417,517 (GRCm39)	missense	probably benign
IGL01936:Psmb8	APN	17	34,419,168 (GRCm39)	missense	probably damaging	1.00
IGL02118:Psmb8	APN	17	34,420,198 (GRCm39)	missense	probably damaging	0.98
IGL02708:Psmb8	APN	17	34,420,217 (GRCm39)	missense	probably benign	0.00
IGL02739:Psmb8	APN	17	34,419,728 (GRCm39)	nonsense	probably null
R1952:Psmb8	UTSW	17	34,419,884 (GRCm39)	missense	probably damaging	1.00
R2869:Psmb8	UTSW	17	34,419,144 (GRCm39)	missense	probably damaging	0.98
R2869:Psmb8	UTSW	17	34,419,144 (GRCm39)	missense	probably damaging	0.98
R2870:Psmb8	UTSW	17	34,419,144 (GRCm39)	missense	probably damaging	0.98
R2870:Psmb8	UTSW	17	34,419,144 (GRCm39)	missense	probably damaging	0.98
R2871:Psmb8	UTSW	17	34,419,144 (GRCm39)	missense	probably damaging	0.98
R2871:Psmb8	UTSW	17	34,419,144 (GRCm39)	missense	probably damaging	0.98
R2873:Psmb8	UTSW	17	34,419,144 (GRCm39)	missense	probably damaging	0.98
R2874:Psmb8	UTSW	17	34,419,144 (GRCm39)	missense	probably damaging	0.98
R5632:Psmb8	UTSW	17	34,420,214 (GRCm39)	missense	probably benign
R6395:Psmb8	UTSW	17	34,418,265 (GRCm39)	missense	possibly damaging	0.86
R7645:Psmb8	UTSW	17	34,419,186 (GRCm39)	missense	possibly damaging	0.76
R7672:Psmb8	UTSW	17	34,417,404 (GRCm39)	missense	probably benign	0.06
R8804:Psmb8	UTSW	17	34,419,225 (GRCm39)	missense	probably damaging	1.00
R9492:Psmb8	UTSW	17	34,417,435 (GRCm39)	missense	probably benign	0.00
Z1176:Psmb8	UTSW	17	34,419,830 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGCTGGCATTATAGCACACTGAG -3'
(R):5'- TATAAGCAGGGACCCAGGCTAG -3'

Sequencing Primer
(F):5'- CACTGAGGGTGGGGGTG -3'
(R):5'- ACCCAGGCTAGGATTTGGG -3'

Posted On

2019-05-13