Mutagenetix > Incidental Mutation

Incidental Mutation 'R7007:Psmb5'

544790

Institutional Source

Beutler Lab

Gene Symbol

Psmb5

Ensembl Gene

ENSMUSG00000022193

Gene Name

proteasome (prosome, macropain) subunit, beta type 5

Synonyms

MMRRC Submission

045109-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R7007 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54851577-54855452 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 54854166 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 104 (M104K)

Ref Sequence

ENSEMBL: ENSMUSP00000022803 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022803] [ENSMUST00000227257] [ENSMUST00000228446]

AlphaFold

O55234

PDB Structure

Mouse constitutive 20S proteasome in complex with PR-957 [X-RAY DIFFRACTION]
Mouse constitutive 20S proteasome [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000022803
AA Change: M104K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000022803
Gene: ENSMUSG00000022193
AA Change: M104K

Domain	Start	End	E-Value	Type
low complexity region	17	42	N/A	INTRINSIC
Pfam:Proteasome	56	238	8.3e-50	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000227257

Predicted Effect

probably benign
Transcript: ENSMUST00000228446

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

95% (63/66)

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 in the proteasome. This catalytic subunit is not present in the immunoproteasome and is replaced by catalytic subunit 3i (proteasome beta 8 subunit). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	C	T	14: 35,817,121 (GRCm39)	T57I	probably benign	Het
Adcy8	T	C	15: 64,576,565 (GRCm39)	N999S	possibly damaging	Het
Adgrv1	T	A	13: 81,684,483 (GRCm39)	I1073F	possibly damaging	Het
Akap3	A	G	6: 126,843,439 (GRCm39)	D686G	probably damaging	Het
Alg2	A	T	4: 47,471,881 (GRCm39)	I309N	probably benign	Het
Ankrd36	A	G	11: 5,639,168 (GRCm39)	E1360G	probably benign	Het
Aox1	C	A	1: 58,370,051 (GRCm39)	Q788K	probably damaging	Het
Apoc2	A	T	7: 19,407,282 (GRCm39)	D26E	possibly damaging	Het
Bbx	G	A	16: 50,022,851 (GRCm39)	T703I	possibly damaging	Het
C2cd4d	T	C	3: 94,271,378 (GRCm39)	Y215H	probably benign	Het
C3	C	T	17: 57,525,809 (GRCm39)	E858K	probably benign	Het
Ciita	T	C	16: 10,329,171 (GRCm39)	L482P	probably damaging	Het
Cldn9	T	C	17: 23,902,052 (GRCm39)	E191G	probably benign	Het
Cnst	T	A	1: 179,438,133 (GRCm39)	S566T	probably damaging	Het
Col5a2	A	G	1: 45,417,609 (GRCm39)	I1322T	possibly damaging	Het
Cp	G	A	3: 20,024,137 (GRCm39)	V326M	probably damaging	Het
Cyp7b1	G	A	3: 18,151,782 (GRCm39)	Q144*	probably null	Het
Dnah10	T	C	5: 124,864,490 (GRCm39)	S2232P	probably damaging	Het
Dnah17	T	C	11: 118,009,697 (GRCm39)	E625G	possibly damaging	Het
Dnah7c	T	A	1: 46,571,910 (GRCm39)	D794E	probably benign	Het
Dusp10	G	A	1: 183,769,414 (GRCm39)	V127M	probably benign	Het
Dysf	G	C	6: 84,090,962 (GRCm39)	W1015C	probably damaging	Het
Fbxw17	T	C	13: 50,577,808 (GRCm39)	Y104H	probably damaging	Het
Gm6408	G	A	5: 146,420,647 (GRCm39)	E176K	probably damaging	Het
Gp1bb	T	A	16: 18,439,689 (GRCm39)	D135V	possibly damaging	Het
Gprin1	C	T	13: 54,886,069 (GRCm39)	C735Y	probably damaging	Het
Heatr9	T	A	11: 83,411,446 (GRCm39)	M30L	possibly damaging	Het
Hhat	G	A	1: 192,376,134 (GRCm39)	T333I	possibly damaging	Het
Htr5b	A	G	1: 121,438,223 (GRCm39)	F336S	probably damaging	Het
Ippk	T	G	13: 49,590,181 (GRCm39)		probably null	Het
Jph1	T	A	1: 17,074,410 (GRCm39)	H11L	possibly damaging	Het
Kif12	T	A	4: 63,084,717 (GRCm39)	I534L	probably benign	Het
Lemd3	A	T	10: 120,788,137 (GRCm39)	F523I	probably benign	Het
Lgsn	C	A	1: 31,229,508 (GRCm39)	H76Q	probably benign	Het
Lipm	T	A	19: 34,089,497 (GRCm39)	W152R	probably damaging	Het
Mei1	A	T	15: 81,978,200 (GRCm39)	R216W	probably damaging	Het
Mybpc1	C	T	10: 88,389,274 (GRCm39)	G379S	probably damaging	Het
Myh8	A	G	11: 67,179,142 (GRCm39)	T512A	probably benign	Het
Nf1	A	G	11: 79,337,849 (GRCm39)		probably null	Het
Npc1	T	C	18: 12,343,605 (GRCm39)	T463A	probably benign	Het
Or12e10	A	G	2: 87,640,230 (GRCm39)	N22S	probably damaging	Het
Or2y13	G	A	11: 49,415,011 (GRCm39)	V154M	probably benign	Het
Or6c7	A	T	10: 129,323,277 (GRCm39)	I133F	probably damaging	Het
Osbpl11	T	G	16: 33,047,309 (GRCm39)	I424R	possibly damaging	Het
Pnma8b	A	T	7: 16,680,181 (GRCm39)	K388N	possibly damaging	Het
Ppp1r26	A	T	2: 28,341,171 (GRCm39)	K267I	probably damaging	Het
Ptges2	T	C	2: 32,292,318 (GRCm39)	V378A	probably benign	Het
Rcan2	C	T	17: 44,147,216 (GRCm39)	S18F	probably benign	Het
Saxo5	A	T	8: 3,526,309 (GRCm39)	D154V	probably damaging	Het
Sf3b2	C	T	19: 5,324,545 (GRCm39)	R859Q	probably benign	Het
Slc7a1	G	A	5: 148,289,256 (GRCm39)			Het
Spata31d1a	T	A	13: 59,851,448 (GRCm39)	T227S	probably benign	Het
Sptbn2	T	A	19: 4,794,173 (GRCm39)	V1459E	possibly damaging	Het
Srgap2	T	C	1: 131,247,275 (GRCm39)	I586V	probably benign	Het
St6galnac1	G	A	11: 116,657,833 (GRCm39)	R356*	probably null	Het
Taf5	T	A	19: 47,059,650 (GRCm39)	F265I	probably damaging	Het
Tkfc	T	A	19: 10,573,727 (GRCm39)	I229L	probably benign	Het
Tmem132c	T	A	5: 127,436,679 (GRCm39)	L56Q	probably damaging	Het
Togaram2	C	T	17: 72,016,638 (GRCm39)	A665V	probably damaging	Het
Ttn	G	A	2: 76,537,390 (GRCm39)	T34846I	probably benign	Het
Tyr	G	A	7: 87,142,548 (GRCm39)	A4V	probably benign	Het
Ubap2	A	C	4: 41,206,221 (GRCm39)	F549L	probably damaging	Het
Usp2	T	C	9: 44,001,339 (GRCm39)	S294P	probably damaging	Het
Vrk3	A	G	7: 44,407,187 (GRCm39)	N53D	probably damaging	Het
Zfp324	T	C	7: 12,705,142 (GRCm39)	S444P	probably damaging	Het
Zfp597	T	C	16: 3,683,791 (GRCm39)	I322V	probably benign	Het

Other mutations in Psmb5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01140:Psmb5	APN	14	54,855,264 (GRCm39)	missense	possibly damaging	0.85
IGL02967:Psmb5	APN	14	54,854,083 (GRCm39)	missense	probably benign	0.11
IGL03095:Psmb5	APN	14	54,854,014 (GRCm39)	missense	probably damaging	1.00
R2447:Psmb5	UTSW	14	54,851,927 (GRCm39)	missense	probably damaging	0.97
R5651:Psmb5	UTSW	14	54,854,221 (GRCm39)	missense	possibly damaging	0.64
R6346:Psmb5	UTSW	14	54,854,130 (GRCm39)	missense	probably damaging	0.98
R6372:Psmb5	UTSW	14	54,854,130 (GRCm39)	missense	probably damaging	0.98
R6657:Psmb5	UTSW	14	54,851,840 (GRCm39)	missense	possibly damaging	0.61
R6687:Psmb5	UTSW	14	54,854,130 (GRCm39)	missense	probably damaging	0.98
R6688:Psmb5	UTSW	14	54,854,130 (GRCm39)	missense	probably damaging	0.98
R6752:Psmb5	UTSW	14	54,854,212 (GRCm39)	missense	probably benign	0.00
R7801:Psmb5	UTSW	14	54,854,212 (GRCm39)	missense	probably benign	0.00
R8066:Psmb5	UTSW	14	54,851,698 (GRCm39)	missense	probably benign	0.00
R8278:Psmb5	UTSW	14	54,855,342 (GRCm39)	missense	probably benign	0.13
R8497:Psmb5	UTSW	14	54,851,837 (GRCm39)	missense	possibly damaging	0.95
R8728:Psmb5	UTSW	14	54,855,261 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTATCCCAGCCACAGATCATGG -3'
(R):5'- AGATGCAAAGCCAGGTTATCTTTC -3'

Sequencing Primer
(F):5'- GATCATGGTGCCCATAGACAGC -3'
(R):5'- TGGAGTCATTGTTGCAGC -3'

Posted On

2019-05-13