Mutagenetix > Incidental Mutation

Incidental Mutation 'R4979:Psmb1'

384708

Institutional Source

Beutler Lab

Gene Symbol

Psmb1

Ensembl Gene

ENSMUSG00000014769

Gene Name

proteasome (prosome, macropain) subunit, beta type 1

Synonyms

Lmpc5

MMRRC Submission

042574-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.942) question?

Stock #

R4979 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

15475021-15499751 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 15476189 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 85 (M85K)

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: M185K

PolyPhen 2 Score 0.230 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000014913
Gene: ENSMUSG00000014769
AA Change: M185K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000231341

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231696

Predicted Effect

probably benign
Transcript: ENSMUST00000232500
AA Change: M85K

PolyPhen 2 Score 0.230 (Sensitivity: 0.91; Specificity: 0.88)

Meta Mutation Damage Score

0.0879

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.4%

Validation Efficiency

99% (79/80)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	G	A	17: 9,001,811 (GRCm38)	E381K	probably damaging	Het
Abca1	T	C	4: 53,085,092 (GRCm38)		probably null	Het
Abca7	C	T	10: 80,004,783 (GRCm38)	Q870*	probably null	Het
Ambp	C	T	4: 63,152,651 (GRCm38)	V64M	probably benign	Het
Ank1	T	C	8: 23,132,196 (GRCm38)	V1542A	probably damaging	Het
Anln	T	C	9: 22,376,501 (GRCm38)	Y168C	probably benign	Het
Apoa4	T	A	9: 46,241,505 (GRCm38)	N29K	probably benign	Het
Arfgef1	T	C	1: 10,213,109 (GRCm38)	T192A	probably damaging	Het
Atad2b	G	T	12: 5,034,513 (GRCm38)	D1420Y	probably damaging	Het
Baiap3	A	G	17: 25,246,362 (GRCm38)	W648R	possibly damaging	Het
Bank1	A	G	3: 136,254,901 (GRCm38)	L198P	probably damaging	Het
Bicd2	A	G	13: 49,379,464 (GRCm38)	K509E	possibly damaging	Het
Cacna1e	T	C	1: 154,413,993 (GRCm38)	D1821G	probably damaging	Het
Ccdc80	G	A	16: 45,116,287 (GRCm38)	V692M	possibly damaging	Het
Ccdc88a	C	T	11: 29,482,133 (GRCm38)	Q308*	probably null	Het
Ccl8	T	C	11: 82,116,147 (GRCm38)	V62A	probably damaging	Het
Clspn	C	A	4: 126,578,386 (GRCm38)	P951Q	probably damaging	Het
Cngb1	T	A	8: 95,259,157 (GRCm38)	I858F	probably damaging	Het
Cspp1	T	A	1: 10,126,463 (GRCm38)	N900K	probably damaging	Het
Ctc1	C	T	11: 69,033,502 (GRCm38)	A960V	probably damaging	Het
Ctnnd2	A	G	15: 31,009,075 (GRCm38)	E1106G	probably damaging	Het
Dido1	C	T	2: 180,660,813 (GRCm38)	R1766H	probably damaging	Het
Dnajc13	G	T	9: 104,186,723 (GRCm38)	N1341K	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038 (GRCm38)		probably null	Homo
E2f8	G	A	7: 48,875,170 (GRCm38)		probably benign	Het
Entpd8	A	G	2: 25,082,955 (GRCm38)	D91G	possibly damaging	Het
Fam69a	A	T	5: 107,909,534 (GRCm38)	L386*	probably null	Het
Fars2	A	G	13: 36,204,581 (GRCm38)	R18G	possibly damaging	Het
Fcgbp	A	G	7: 28,117,570 (GRCm38)	S2486G	probably benign	Het
Fibin	C	T	2: 110,362,618 (GRCm38)	D60N	possibly damaging	Het
Fpgs	A	G	2: 32,687,367 (GRCm38)		probably benign	Het
Galnt15	A	G	14: 32,043,290 (GRCm38)	D303G	probably damaging	Het
Gli3	C	A	13: 15,724,464 (GRCm38)	T812K	possibly damaging	Het
Gpbar1	G	C	1: 74,279,245 (GRCm38)	A216P	probably benign	Het
Grin2d	A	G	7: 45,857,933 (GRCm38)	I448T	probably benign	Het
Il21	C	A	3: 37,232,504 (GRCm38)	S21I	probably damaging	Het
Iqce	G	T	5: 140,691,621 (GRCm38)	D148E	probably damaging	Het
Iqcg	T	A	16: 33,019,514 (GRCm38)	E354V	probably damaging	Het
Iws1	T	C	18: 32,093,267 (GRCm38)		probably benign	Het
Ly75	C	T	2: 60,375,894 (GRCm38)	G144S	probably damaging	Het
Marco	C	A	1: 120,494,225 (GRCm38)	M83I	probably benign	Het
Mettl6	A	T	14: 31,479,795 (GRCm38)	L185H	probably damaging	Het
Mppe1	C	T	18: 67,229,702 (GRCm38)	G154D	probably damaging	Het
Mrpl42	T	C	10: 95,490,375 (GRCm38)	E85G	probably benign	Het
Neb	A	G	2: 52,189,909 (GRCm38)	V5518A	probably damaging	Het
Olfr103	A	T	17: 37,336,868 (GRCm38)	F121L	probably benign	Het
Olfr1458	A	T	19: 13,102,689 (GRCm38)	I199N	probably damaging	Het
Olfr656	T	A	7: 104,618,605 (GRCm38)	F317I	probably null	Het
Olfr77	G	T	9: 19,920,359 (GRCm38)	S50I	probably benign	Het
Olfr8	T	A	10: 78,955,932 (GRCm38)	C242*	probably null	Het
Perm1	A	G	4: 156,217,577 (GRCm38)	T193A	probably benign	Het
Prkd2	T	A	7: 16,848,727 (GRCm38)	C172S	probably damaging	Het
Prr23a3	T	A	9: 98,865,378 (GRCm38)	D128E	possibly damaging	Het
Prss28	A	G	17: 25,309,737 (GRCm38)	Y51C	probably damaging	Het
Rae1	T	A	2: 173,012,608 (GRCm38)		probably benign	Het
Rasal1	A	G	5: 120,678,676 (GRCm38)	D759G	probably benign	Het
Rcvrn	G	A	11: 67,695,420 (GRCm38)	G2R	probably damaging	Het
Robo3	C	T	9: 37,423,344 (GRCm38)	A597T	probably damaging	Het
Rsf1	GCG	GCGACGGCGCCG	7: 97,579,907 (GRCm38)		probably benign	Homo
Sdcbp	T	A	4: 6,378,980 (GRCm38)	Y22*	probably null	Het
Sin3a	T	C	9: 57,118,076 (GRCm38)	F1069L	probably damaging	Het
Slitrk3	C	T	3: 73,049,796 (GRCm38)	V548I	possibly damaging	Het
Tbc1d22a	A	G	15: 86,391,086 (GRCm38)	H403R	probably damaging	Het
Tbr1	G	T	2: 61,805,249 (GRCm38)		probably null	Het
Tiam2	T	A	17: 3,505,710 (GRCm38)	D65E	probably damaging	Het
Tpcn2	A	G	7: 145,260,096 (GRCm38)	S488P	probably benign	Het
Trav9-2	T	C	14: 53,591,238 (GRCm38)	S22P	probably damaging	Het
Trim34a	T	A	7: 104,247,862 (GRCm38)	N44K	probably benign	Het
Unc79	C	G	12: 103,112,432 (GRCm38)	P1619A	probably benign	Het
Usp22	A	T	11: 61,157,216 (GRCm38)	V426E	probably damaging	Het
Vhl	A	T	6: 113,624,198 (GRCm38)	M20L	unknown	Het
Vmn1r215	G	A	13: 23,075,894 (GRCm38)	A35T	probably benign	Het
Vmn1r222	G	A	13: 23,232,432 (GRCm38)	L204F	possibly damaging	Het
Zfp871	A	T	17: 32,775,855 (GRCm38)	H115Q	probably damaging	Het
Zpr1	T	A	9: 46,278,342 (GRCm38)	F340L	probably benign	Het

Other mutations in Psmb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02227:Psmb1	APN	17	15,490,284 (GRCm38)	start codon destroyed	probably null	0.21
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
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

Predicted Primers

PCR Primer
(F):5'- TCCAATATATGACCCGCATGTC -3'
(R):5'- AGAAATTGGGAGCATTGCCCC -3'

Sequencing Primer
(F):5'- GCATGTCAGTCTTTCCGCAG -3'
(R):5'- AAATTGGGAGCATTGCCCCATTTC -3'

Posted On

2016-05-10