Mutagenetix > Incidental Mutation

Incidental Mutation 'R6752:Psmb5'

530853

Institutional Source

Beutler Lab

Gene Symbol

Psmb5

Ensembl Gene

ENSMUSG00000022193

Gene Name

proteasome (prosome, macropain) subunit, beta type 5

Synonyms

MMRRC Submission

044869-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R6752 (G1)

Quality Score

195.009

Status

Validated

Chromosome

Chromosomal Location

54851577-54855452 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54854212 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 89 (T89A)

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 benign
Transcript: ENSMUST00000022803
AA Change: T89A

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

SMART Domains

Protein: ENSMUSP00000022803
Gene: ENSMUSG00000022193
AA Change: T89A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000102174

Predicted Effect

probably benign
Transcript: ENSMUST00000227257

Predicted Effect

probably benign
Transcript: ENSMUST00000228446

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

98% (55/56)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	C	11: 84,086,309 (GRCm39)	L45S	probably benign	Het
Agbl2	G	A	2: 90,633,418 (GRCm39)	C518Y	probably damaging	Het
Akt3	A	T	1: 176,877,756 (GRCm39)	Y337*	probably null	Het
Aox1	T	C	1: 58,086,398 (GRCm39)	I101T	probably benign	Het
Arhgap23	T	C	11: 97,343,074 (GRCm39)	F241S	probably damaging	Het
Asmt	A	G	X: 169,110,096 (GRCm39)	M202V	probably benign	Het
Atp6v0a2	A	G	5: 124,779,452 (GRCm39)	E189G	probably damaging	Het
Birc2	G	A	9: 7,857,345 (GRCm39)	A376V	probably benign	Het
Ccbe1	C	T	18: 66,209,378 (GRCm39)		probably null	Het
Chst2	C	A	9: 95,286,802 (GRCm39)	E515*	probably null	Het
Col12a1	A	T	9: 79,540,706 (GRCm39)	N2426K	possibly damaging	Het
Dmrt2	A	G	19: 25,655,706 (GRCm39)	N435S	probably damaging	Het
Dnah14	A	G	1: 181,421,017 (GRCm39)	K123E	probably benign	Het
Dock4	T	A	12: 40,870,616 (GRCm39)	L1452Q	probably damaging	Het
Galnt7	G	A	8: 58,105,985 (GRCm39)	R10C	probably damaging	Het
Gm16506	A	G	14: 43,964,876 (GRCm39)	I22T	unknown	Het
H2-Q6	A	G	17: 35,647,103 (GRCm39)	T292A	probably damaging	Het
Ifne	A	G	4: 88,798,319 (GRCm39)	M33T	probably benign	Het
Igf2r	G	A	17: 12,933,831 (GRCm39)	R808W	probably damaging	Het
Igfbp5	T	C	1: 72,903,068 (GRCm39)	E169G	probably damaging	Het
Inppl1	G	A	7: 101,481,749 (GRCm39)	R198*	probably null	Het
Irgm1	T	C	11: 48,757,290 (GRCm39)	T174A	probably damaging	Het
Itih3	C	T	14: 30,645,446 (GRCm39)	G21S	possibly damaging	Het
Klra4	G	T	6: 130,038,991 (GRCm39)	Q134K	probably benign	Het
Mfsd1	T	A	3: 67,503,936 (GRCm39)	Y309*	probably null	Het
Mrps10	A	G	17: 47,688,740 (GRCm39)	N162S	probably damaging	Het
Mtmr14	T	C	6: 113,217,358 (GRCm39)	F90S	probably damaging	Het
Myh15	A	G	16: 49,003,290 (GRCm39)	D1783G	probably damaging	Het
Myo3b	A	G	2: 70,119,856 (GRCm39)	E972G	probably damaging	Het
Myt1	G	T	2: 181,442,875 (GRCm39)	V455F	probably damaging	Het
Nbea	A	T	3: 55,944,640 (GRCm39)	S575T	probably benign	Het
Nbea	T	A	3: 55,875,730 (GRCm39)	T1647S	probably benign	Het
Ntn4	A	G	10: 93,570,037 (GRCm39)	N466S	probably benign	Het
Or10ag52	A	G	2: 87,043,388 (GRCm39)	M51V	probably benign	Het
Or5b114-ps1	T	A	19: 13,352,890 (GRCm39)	L188H	unknown	Het
Or5h27	T	A	16: 59,006,694 (GRCm39)	N51Y	probably damaging	Het
Pcdhgb4	T	A	18: 37,853,704 (GRCm39)	I33N	probably damaging	Het
Pi4ka	A	G	16: 17,194,846 (GRCm39)	L184P	possibly damaging	Het
Pom121l2	T	G	13: 22,165,939 (GRCm39)	F70C	probably damaging	Het
Rab11fip2	T	C	19: 59,895,475 (GRCm39)	D471G	probably damaging	Het
Rnh1	A	G	7: 140,743,354 (GRCm39)	V207A	probably benign	Het
Sh3tc2	C	A	18: 62,094,108 (GRCm39)	T49N	probably benign	Het
Skint4	T	C	4: 111,977,060 (GRCm39)	M158T	possibly damaging	Het
Skint7	T	A	4: 111,837,463 (GRCm39)	H80Q	probably benign	Het
Smg1	A	G	7: 117,762,539 (GRCm39)		probably benign	Het
Sostdc1	T	C	12: 36,364,411 (GRCm39)	V40A	probably benign	Het
Sptlc1	C	A	13: 53,489,394 (GRCm39)	K437N	possibly damaging	Het
Stat2	T	C	10: 128,119,622 (GRCm39)	F503L	probably damaging	Het
Syt16	A	T	12: 74,275,987 (GRCm39)		probably null	Het
Tspyl1	T	C	10: 34,158,583 (GRCm39)	S103P	probably benign	Het
Ube4a	A	T	9: 44,837,246 (GRCm39)	S1053R	probably damaging	Het
Vipr1	A	G	9: 121,482,959 (GRCm39)	N58S	probably damaging	Het
Zfp184	C	A	13: 22,143,578 (GRCm39)	A428E	probably damaging	Het
Zfp292	A	C	4: 34,808,593 (GRCm39)	F1484V	possibly damaging	Het
Zfp599	G	A	9: 22,160,840 (GRCm39)	H442Y	probably damaging	Het
Zfp944	G	A	17: 22,558,500 (GRCm39)	T249I	probably benign	Het
Zkscan14	T	A	5: 145,132,316 (GRCm39)	H405L	probably damaging	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
R7007:Psmb5	UTSW	14	54,854,166 (GRCm39)	missense	probably damaging	0.99
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'- GATGCAAAGCCAGGTTATCTTTC -3'

Sequencing Primer
(F):5'- GTACTGATACACCATGTTAGCGAGC -3'
(R):5'- GTTTCTCCATGGAGTCATT -3'

Posted On

2018-08-01