Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02227:Psmb1'

285585

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Psmb1

Ensembl Gene

ENSMUSG00000014769

Gene Name

proteasome (prosome, macropain) subunit, beta type 1

Synonyms

Lmpc5

Accession Numbers

Essential gene?

Probably essential (E-score: 0.941) question?

Stock #

IGL02227

Quality Score

Status

Chromosome

Chromosomal Location

15695983-15718538 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to T at 15710546 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1 (M1K)

Ref Sequence

ENSEMBL: ENSMUSP00000156359 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014913] [ENSMUST00000231341] [ENSMUST00000232500]

AlphaFold

O09061

Predicted Effect

probably benign
Transcript: ENSMUST00000014913
AA Change: M101K

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000014913
Gene: ENSMUSG00000014769
AA Change: M101K

Domain	Start	End	E-Value	Type
Pfam:Proteasome	33	225	8.9e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000231341
AA Change: M101K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

probably null
Transcript: ENSMUST00000232500
AA Change: M1K

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)

Coding Region Coverage

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 tightly linked to the TBP (TATA-binding protein) gene in human and in mouse, and is transcribed in the opposite orientation in both species. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl1	A	G	8: 46,987,402 (GRCm39)	E662G	probably benign	Het
Acss3	A	G	10: 106,881,196 (GRCm39)	S262P	probably benign	Het
Agap1	T	C	1: 89,591,497 (GRCm39)	V263A	probably damaging	Het
Ap3b2	A	G	7: 81,123,152 (GRCm39)	L454P	probably damaging	Het
Arrdc1	A	T	2: 24,816,164 (GRCm39)	F280I	possibly damaging	Het
Atp8b1	G	T	18: 64,695,261 (GRCm39)	H485N	probably benign	Het
Atrip	A	G	9: 108,890,732 (GRCm39)	S91P	possibly damaging	Het
Bcorl1	T	C	X: 47,458,237 (GRCm39)	V590A	probably benign	Het
Brf1	C	A	12: 112,925,394 (GRCm39)	R590S	probably damaging	Het
Ccdc18	A	T	5: 108,296,788 (GRCm39)	D197V	possibly damaging	Het
Ccr6	T	C	17: 8,475,284 (GRCm39)	V163A	probably damaging	Het
Cct6b	T	C	11: 82,632,217 (GRCm39)	E257G	probably damaging	Het
Cdc42bpa	A	G	1: 179,921,989 (GRCm39)	D564G	possibly damaging	Het
Cdh2	C	T	18: 16,762,643 (GRCm39)	V434I	probably benign	Het
Cfap410	A	G	10: 77,818,784 (GRCm39)	N152D	possibly damaging	Het
Cltc	C	T	11: 86,588,166 (GRCm39)	V1610M	possibly damaging	Het
Cnot4	A	G	6: 35,028,198 (GRCm39)	F473L	probably benign	Het
Dock3	T	C	9: 106,939,254 (GRCm39)	K165E	probably damaging	Het
Duox2	A	T	2: 122,115,634 (GRCm39)		probably benign	Het
Epha7	A	G	4: 28,821,587 (GRCm39)	S251G	possibly damaging	Het
Epn1	T	A	7: 5,098,035 (GRCm39)	V282E	probably benign	Het
Fat1	T	C	8: 45,476,696 (GRCm39)	L1914P	probably damaging	Het
Fbln2	T	C	6: 91,233,349 (GRCm39)	I611T	possibly damaging	Het
Fgd6	G	T	10: 93,969,946 (GRCm39)	M1198I	probably damaging	Het
Frmpd4	T	A	X: 166,275,931 (GRCm39)	I379F	probably damaging	Het
Grk4	T	A	5: 34,852,126 (GRCm39)	D123E	probably benign	Het
Hc	T	G	2: 34,899,923 (GRCm39)		probably benign	Het
Hephl1	T	C	9: 14,981,089 (GRCm39)	Y781C	probably damaging	Het
Hfe	T	C	13: 23,890,926 (GRCm39)	E71G	probably benign	Het
Hk1	A	G	10: 62,116,919 (GRCm39)		probably benign	Het
Ifnk	G	A	4: 35,152,642 (GRCm39)		probably benign	Het
Kcnv1	C	A	15: 44,977,670 (GRCm39)	G123C	probably damaging	Het
Klhl38	A	T	15: 58,186,633 (GRCm39)	I32N	possibly damaging	Het
Lpl	T	C	8: 69,348,452 (GRCm39)	V227A	probably damaging	Het
Lurap1l	A	T	4: 80,872,094 (GRCm39)	S196C	probably damaging	Het
Mta1	T	C	12: 113,084,528 (GRCm39)	L91P	possibly damaging	Het
Nelfe	C	A	17: 35,073,330 (GRCm39)	D288E	probably benign	Het
Or5p1	T	A	7: 107,916,408 (GRCm39)	C102*	probably null	Het
Otof	T	C	5: 30,528,128 (GRCm39)	E1905G	probably damaging	Het
Pck2	T	C	14: 55,781,323 (GRCm39)	I148T	probably benign	Het
Plcl2	G	T	17: 50,913,425 (GRCm39)	V145F	probably damaging	Het
Plec	A	G	15: 76,056,474 (GRCm39)	S4510P	probably damaging	Het
Plxna2	A	G	1: 194,434,397 (GRCm39)	E641G	probably damaging	Het
Poglut3	T	C	9: 53,299,779 (GRCm39)	L96S	probably damaging	Het
Ppp1r12a	C	T	10: 108,105,185 (GRCm39)	T434M	probably damaging	Het
Ppp6r3	A	T	19: 3,568,245 (GRCm39)	N184K	possibly damaging	Het
Prkar1a	G	A	11: 109,551,001 (GRCm39)		probably benign	Het
Pwwp2a	T	C	11: 43,596,448 (GRCm39)	S538P	possibly damaging	Het
Rbm25	C	T	12: 83,719,527 (GRCm39)	R516W	probably damaging	Het
Rnf103	A	G	6: 71,487,172 (GRCm39)	D601G	probably benign	Het
Senp3	A	G	11: 69,565,356 (GRCm39)	V467A	possibly damaging	Het
Slc8a3	T	G	12: 81,362,457 (GRCm39)	T121P	probably damaging	Het
Slco1a8	A	T	6: 141,939,401 (GRCm39)	C197*	probably null	Het
Srrt	G	A	5: 137,294,536 (GRCm39)	T790M	probably damaging	Het
Ssc5d	T	C	7: 4,936,453 (GRCm39)		probably null	Het
Tas2r129	G	A	6: 132,928,357 (GRCm39)	W98*	probably null	Het
Thoc5	A	C	11: 4,876,217 (GRCm39)	M609L	probably benign	Het
Tnip1	G	A	11: 54,827,297 (GRCm39)	T155M	possibly damaging	Het
Ttn	A	G	2: 76,618,672 (GRCm39)	V14458A	probably benign	Het
Unc5cl	A	G	17: 48,766,809 (GRCm39)	E61G	probably benign	Het
Usp32	T	C	11: 84,877,307 (GRCm39)	K151E	probably damaging	Het
Vmn2r121	T	C	X: 123,042,378 (GRCm39)	M260V	probably benign	Het
Vwa7	G	T	17: 35,239,060 (GRCm39)	R345L	probably damaging	Het
Zfp366	G	T	13: 99,370,696 (GRCm39)	R472L	possibly damaging	Het
Zfp811	A	T	17: 33,017,616 (GRCm39)	Y141*	probably null	Het
Zpbp	C	T	11: 11,365,248 (GRCm39)	E200K	probably benign	Het

Other mutations in Psmb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0416:Psmb1	UTSW	17	15,714,781 (GRCm39)	missense	probably benign	0.00
R3908:Psmb1	UTSW	17	15,710,543 (GRCm39)	missense	probably damaging	1.00
R4946:Psmb1	UTSW	17	15,718,478 (GRCm39)	missense	probably benign	0.01
R4976:Psmb1	UTSW	17	15,718,524 (GRCm39)	start codon destroyed	probably null	0.99
R4979:Psmb1	UTSW	17	15,696,451 (GRCm39)	missense	probably benign	0.23
R5119:Psmb1	UTSW	17	15,718,524 (GRCm39)	start codon destroyed	probably null	0.99
R5506:Psmb1	UTSW	17	15,710,478 (GRCm39)	missense	probably damaging	1.00
R5939:Psmb1	UTSW	17	15,718,440 (GRCm39)	missense	probably damaging	1.00
R6848:Psmb1	UTSW	17	15,697,509 (GRCm39)	missense	probably benign	0.03
R7178:Psmb1	UTSW	17	15,697,521 (GRCm39)	missense	possibly damaging	0.50
R7701:Psmb1	UTSW	17	15,697,509 (GRCm39)	missense	probably benign	0.03
R7891:Psmb1	UTSW	17	15,714,748 (GRCm39)	missense	probably benign	0.01
R9369:Psmb1	UTSW	17	15,710,478 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16