Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01351:Psmb4'

75375

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Psmb4

Ensembl Gene

ENSMUSG00000005779

Gene Name

proteasome (prosome, macropain) subunit, beta type 4

Synonyms

Pros-27

Accession Numbers

Essential gene?

Probably essential (E-score: 0.880) question?

Stock #

IGL01351

Quality Score

Status

Chromosome

Chromosomal Location

94791635-94794269 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 94793538 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000005923 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005923] [ENSMUST00000107269] [ENSMUST00000107270]

AlphaFold

P99026

PDB Structure

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

Predicted Effect

probably null
Transcript: ENSMUST00000005923

SMART Domains

Protein: ENSMUSP00000005923
Gene: ENSMUSG00000005779

Domain	Start	End	E-Value	Type
Pfam:Proteasome	50	237	3.1e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107269

SMART Domains

Protein: ENSMUSP00000102890
Gene: ENSMUSG00000038902

Domain	Start	End	E-Value	Type
low complexity region	9	16	N/A	INTRINSIC
low complexity region	41	54	N/A	INTRINSIC
low complexity region	144	171	N/A	INTRINSIC
low complexity region	242	249	N/A	INTRINSIC
PDB:2E72\|A	276	307	5e-16	PDB
low complexity region	315	350	N/A	INTRINSIC
ZnF_C2H2	396	418	1.64e-1	SMART
ZnF_C2H2	432	455	5.34e0	SMART
ZnF_C2H2	462	485	4.79e-3	SMART
ZnF_C2H2	492	515	9.3e-1	SMART
ZnF_C2H2	521	543	3.34e-2	SMART
ZnF_C2H2	549	571	1.13e1	SMART
ZnF_C2H2	672	695	9.46e0	SMART
ZnF_C2H2	716	741	5.26e1	SMART
low complexity region	810	829	N/A	INTRINSIC
low complexity region	860	869	N/A	INTRINSIC
low complexity region	898	910	N/A	INTRINSIC
CENPB	922	986	3.84e-15	SMART
Pfam:DDE_1	1018	1203	1.1e-22	PFAM
low complexity region	1269	1279	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107270

SMART Domains

Protein: ENSMUSP00000102891
Gene: ENSMUSG00000038902

Domain	Start	End	E-Value	Type
low complexity region	9	16	N/A	INTRINSIC
low complexity region	41	54	N/A	INTRINSIC
low complexity region	239	266	N/A	INTRINSIC
low complexity region	337	344	N/A	INTRINSIC
PDB:2E72\|A	371	402	5e-16	PDB
low complexity region	410	445	N/A	INTRINSIC
ZnF_C2H2	491	513	1.64e-1	SMART
ZnF_C2H2	527	550	5.34e0	SMART
ZnF_C2H2	557	580	4.79e-3	SMART
ZnF_C2H2	587	610	9.3e-1	SMART
ZnF_C2H2	616	638	3.34e-2	SMART
ZnF_C2H2	644	666	1.13e1	SMART
ZnF_C2H2	767	790	9.46e0	SMART
ZnF_C2H2	811	836	5.26e1	SMART
low complexity region	905	924	N/A	INTRINSIC
low complexity region	955	964	N/A	INTRINSIC
low complexity region	993	1005	N/A	INTRINSIC
CENPB	1017	1081	3.84e-15	SMART
Pfam:DDE_1	1150	1298	1.5e-18	PFAM
low complexity region	1364	1374	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133412

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134133

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136143

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200513

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. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,217,565 (GRCm39)	S336P	probably benign	Het
Abca9	T	C	11: 110,039,729 (GRCm39)	Y428C	probably damaging	Het
Alpk1	T	C	3: 127,466,011 (GRCm39)	Q1165R	probably damaging	Het
Angel2	C	A	1: 190,665,310 (GRCm39)	N80K	probably benign	Het
Bmp6	T	C	13: 38,653,610 (GRCm39)	S226P	probably damaging	Het
Ccar2	T	C	14: 70,383,311 (GRCm39)	T229A	probably benign	Het
Cdh12	G	A	15: 21,237,989 (GRCm39)	V75M	probably damaging	Het
Cdh6	G	T	15: 13,034,326 (GRCm39)	A778E	possibly damaging	Het
Corin	A	T	5: 72,496,334 (GRCm39)	C540S	probably damaging	Het
Cyfip1	C	A	7: 55,547,991 (GRCm39)	Y530*	probably null	Het
Dock10	T	G	1: 80,570,876 (GRCm39)	K327N	probably damaging	Het
Dpy19l3	A	G	7: 35,426,840 (GRCm39)		probably benign	Het
E2f8	T	C	7: 48,516,899 (GRCm39)	T827A	probably benign	Het
Edem3	T	C	1: 151,668,136 (GRCm39)	V305A	possibly damaging	Het
Fam170a	T	C	18: 50,414,845 (GRCm39)	W164R	probably benign	Het
Fbxw14	T	C	9: 109,103,640 (GRCm39)	D24G	possibly damaging	Het
Gnmt	T	C	17: 47,037,606 (GRCm39)	D124G	probably benign	Het
Gpx5	T	C	13: 21,471,669 (GRCm39)	D178G	probably damaging	Het
Gsdmd	T	A	15: 75,736,186 (GRCm39)	I105N	probably damaging	Het
Hps5	C	T	7: 46,410,856 (GRCm39)	M1113I	probably damaging	Het
Hyal6	T	C	6: 24,734,178 (GRCm39)	F37S	probably damaging	Het
Il17c	C	T	8: 123,148,862 (GRCm39)	T2I	probably benign	Het
Lyz1	A	G	10: 117,127,093 (GRCm39)	C48R	probably damaging	Het
Or52e18	T	A	7: 104,609,946 (GRCm39)		probably benign	Het
Pafah1b3	G	A	7: 24,994,570 (GRCm39)	R215C	possibly damaging	Het
Rnf213	T	C	11: 119,373,944 (GRCm39)	V5009A	probably benign	Het
Sema6a	T	C	18: 47,414,369 (GRCm39)	K494E	possibly damaging	Het
Sfmbt1	T	C	14: 30,491,777 (GRCm39)	V17A	probably benign	Het
Speg	T	A	1: 75,387,920 (GRCm39)		probably benign	Het
Spint1	A	G	2: 119,076,936 (GRCm39)	D340G	probably damaging	Het
Tasor	A	G	14: 27,186,258 (GRCm39)	E819G	probably benign	Het
Tctn3	T	C	19: 40,596,081 (GRCm39)	I309V	probably benign	Het
Tex19.1	T	A	11: 121,038,072 (GRCm39)	D143E	probably damaging	Het
Tktl2	A	G	8: 66,965,548 (GRCm39)	I369V	probably benign	Het
Tm2d2	A	G	8: 25,510,573 (GRCm39)		probably benign	Het
Traf4	C	A	11: 78,056,226 (GRCm39)	R14L	possibly damaging	Het
Zfhx4	A	G	3: 5,466,196 (GRCm39)	Y2118C	probably damaging	Het
Zmynd15	C	A	11: 70,354,416 (GRCm39)	N425K	probably benign	Het

Other mutations in Psmb4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0322:Psmb4	UTSW	3	94,793,402 (GRCm39)	missense	probably benign	0.05
R0581:Psmb4	UTSW	3	94,793,479 (GRCm39)	missense	probably damaging	0.99
R0646:Psmb4	UTSW	3	94,792,275 (GRCm39)	missense	probably benign	0.34
R2316:Psmb4	UTSW	3	94,792,322 (GRCm39)	missense	probably benign	0.06
R4505:Psmb4	UTSW	3	94,793,456 (GRCm39)	missense	probably damaging	1.00
R5118:Psmb4	UTSW	3	94,792,253 (GRCm39)	missense	probably damaging	1.00
R8694:Psmb4	UTSW	3	94,793,435 (GRCm39)	missense	probably benign	0.02
R8695:Psmb4	UTSW	3	94,793,435 (GRCm39)	missense	probably benign	0.02
R9622:Psmb4	UTSW	3	94,792,285 (GRCm39)	missense	probably benign

Posted On

2013-10-07