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: 0.942) question?

Stock #

IGL02227

Quality Score

Status

Chromosome

Chromosomal Location

15475021-15499751 bp(-) (GRCm38)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to T at 15490284 bp (GRCm38)

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
1810043G02Rik	A	G	10: 77,982,950 (GRCm38)	N152D	possibly damaging	Het
Acsl1	A	G	8: 46,534,365 (GRCm38)	E662G	probably benign	Het
Acss3	A	G	10: 107,045,335 (GRCm38)	S262P	probably benign	Het
Agap1	T	C	1: 89,663,775 (GRCm38)	V263A	probably damaging	Het
Ap3b2	A	G	7: 81,473,404 (GRCm38)	L454P	probably damaging	Het
Arrdc1	A	T	2: 24,926,152 (GRCm38)	F280I	possibly damaging	Het
Atp8b1	G	T	18: 64,562,190 (GRCm38)	H485N	probably benign	Het
Atrip	A	G	9: 109,061,664 (GRCm38)	S91P	possibly damaging	Het
Bcorl1	T	C	X: 48,369,360 (GRCm38)	V590A	probably benign	Het
Brf1	C	A	12: 112,961,774 (GRCm38)	R590S	probably damaging	Het
Ccdc18	A	T	5: 108,148,922 (GRCm38)	D197V	possibly damaging	Het
Ccr6	T	C	17: 8,256,452 (GRCm38)	V163A	probably damaging	Het
Cct6b	T	C	11: 82,741,391 (GRCm38)	E257G	probably damaging	Het
Cdc42bpa	A	G	1: 180,094,424 (GRCm38)	D564G	possibly damaging	Het
Cdh2	C	T	18: 16,629,586 (GRCm38)	V434I	probably benign	Het
Cltc	C	T	11: 86,697,340 (GRCm38)	V1610M	possibly damaging	Het
Cnot4	A	G	6: 35,051,263 (GRCm38)	F473L	probably benign	Het
Dock3	T	C	9: 107,062,055 (GRCm38)	K165E	probably damaging	Het
Duox2	A	T	2: 122,285,153 (GRCm38)		probably benign	Het
Epha7	A	G	4: 28,821,587 (GRCm38)	S251G	possibly damaging	Het
Epn1	T	A	7: 5,095,036 (GRCm38)	V282E	probably benign	Het
Fat1	T	C	8: 45,023,659 (GRCm38)	L1914P	probably damaging	Het
Fbln2	T	C	6: 91,256,367 (GRCm38)	I611T	possibly damaging	Het
Fgd6	G	T	10: 94,134,084 (GRCm38)	M1198I	probably damaging	Het
Frmpd4	T	A	X: 167,492,935 (GRCm38)	I379F	probably damaging	Het
Gm6614	A	T	6: 141,993,675 (GRCm38)	C197*	probably null	Het
Grk4	T	A	5: 34,694,782 (GRCm38)	D123E	probably benign	Het
Hc	T	G	2: 35,009,911 (GRCm38)		probably benign	Het
Hephl1	T	C	9: 15,069,793 (GRCm38)	Y781C	probably damaging	Het
Hfe	T	C	13: 23,706,943 (GRCm38)	E71G	probably benign	Het
Hk1	A	G	10: 62,281,140 (GRCm38)		probably benign	Het
Ifnk	G	A	4: 35,152,642 (GRCm38)		probably benign	Het
Kcnv1	C	A	15: 45,114,274 (GRCm38)	G123C	probably damaging	Het
Kdelc2	T	C	9: 53,388,479 (GRCm38)	L96S	probably damaging	Het
Klhl38	A	T	15: 58,323,237 (GRCm38)	I32N	possibly damaging	Het
Lpl	T	C	8: 68,895,800 (GRCm38)	V227A	probably damaging	Het
Lurap1l	A	T	4: 80,953,857 (GRCm38)	S196C	probably damaging	Het
Mta1	T	C	12: 113,120,908 (GRCm38)	L91P	possibly damaging	Het
Nelfe	C	A	17: 34,854,354 (GRCm38)	D288E	probably benign	Het
Olfr491	T	A	7: 108,317,201 (GRCm38)	C102*	probably null	Het
Otof	T	C	5: 30,370,784 (GRCm38)	E1905G	probably damaging	Het
Pck2	T	C	14: 55,543,866 (GRCm38)	I148T	probably benign	Het
Plcl2	G	T	17: 50,606,397 (GRCm38)	V145F	probably damaging	Het
Plec	A	G	15: 76,172,274 (GRCm38)	S4510P	probably damaging	Het
Plxna2	A	G	1: 194,752,089 (GRCm38)	E641G	probably damaging	Het
Ppp1r12a	C	T	10: 108,269,324 (GRCm38)	T434M	probably damaging	Het
Ppp6r3	A	T	19: 3,518,245 (GRCm38)	N184K	possibly damaging	Het
Prkar1a	G	A	11: 109,660,175 (GRCm38)		probably benign	Het
Pwwp2a	T	C	11: 43,705,621 (GRCm38)	S538P	possibly damaging	Het
Rbm25	C	T	12: 83,672,753 (GRCm38)	R516W	probably damaging	Het
Rnf103	A	G	6: 71,510,188 (GRCm38)	D601G	probably benign	Het
Senp3	A	G	11: 69,674,530 (GRCm38)	V467A	possibly damaging	Het
Slc8a3	T	G	12: 81,315,683 (GRCm38)	T121P	probably damaging	Het
Srrt	G	A	5: 137,296,274 (GRCm38)	T790M	probably damaging	Het
Ssc5d	T	C	7: 4,933,454 (GRCm38)		probably null	Het
Tas2r129	G	A	6: 132,951,394 (GRCm38)	W98*	probably null	Het
Thoc5	A	C	11: 4,926,217 (GRCm38)	M609L	probably benign	Het
Tnip1	G	A	11: 54,936,471 (GRCm38)	T155M	possibly damaging	Het
Ttn	A	G	2: 76,788,328 (GRCm38)	V14458A	probably benign	Het
Unc5cl	A	G	17: 48,459,781 (GRCm38)	E61G	probably benign	Het
Usp32	T	C	11: 84,986,481 (GRCm38)	K151E	probably damaging	Het
Vmn2r121	T	C	X: 124,132,681 (GRCm38)	M260V	probably benign	Het
Vwa7	G	T	17: 35,020,084 (GRCm38)	R345L	probably damaging	Het
Zfp366	G	T	13: 99,234,188 (GRCm38)	R472L	possibly damaging	Het
Zfp811	A	T	17: 32,798,642 (GRCm38)	Y141*	probably null	Het
Zpbp	C	T	11: 11,415,248 (GRCm38)	E200K	probably benign	Het

Other mutations in Psmb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0416:Psmb1	UTSW	17	15,494,519 (GRCm38)	missense	probably benign	0.00
R3908:Psmb1	UTSW	17	15,490,281 (GRCm38)	missense	probably damaging	1.00
R4946:Psmb1	UTSW	17	15,498,216 (GRCm38)	missense	probably benign	0.01
R4976:Psmb1	UTSW	17	15,498,262 (GRCm38)	start codon destroyed	probably null	0.99
R4979:Psmb1	UTSW	17	15,476,189 (GRCm38)	missense	probably benign	0.23
R5119:Psmb1	UTSW	17	15,498,262 (GRCm38)	start codon destroyed	probably null	0.99
R5506:Psmb1	UTSW	17	15,490,216 (GRCm38)	missense	probably damaging	1.00
R5939:Psmb1	UTSW	17	15,498,178 (GRCm38)	missense	probably damaging	1.00
R6848:Psmb1	UTSW	17	15,477,247 (GRCm38)	missense	probably benign	0.03
R7178:Psmb1	UTSW	17	15,477,259 (GRCm38)	missense	possibly damaging	0.50
R7701:Psmb1	UTSW	17	15,477,247 (GRCm38)	missense	probably benign	0.03
R7891:Psmb1	UTSW	17	15,494,486 (GRCm38)	missense	probably benign	0.01
R9369:Psmb1	UTSW	17	15,490,216 (GRCm38)	missense	probably damaging	1.00

Posted On

2015-04-16