Mutagenetix > Incidental Mutation

Incidental Mutation 'R4505:Psmb4'

331958

Institutional Source

Beutler Lab

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 #

R4505 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94791635-94794269 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 94793456 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 142 (Y142D)

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 damaging
Transcript: ENSMUST00000005923
AA Change: Y142D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000005923
Gene: ENSMUSG00000005779
AA Change: Y142D

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

Meta Mutation Damage Score

0.9512

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

96% (50/52)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	T	16: 20,152,445 (GRCm39)	I1367N	probably damaging	Het
Acbd4	A	G	11: 102,995,605 (GRCm39)		probably benign	Het
Adarb2	A	T	13: 8,747,727 (GRCm39)	S428C	probably damaging	Het
Atl3	T	A	19: 7,498,184 (GRCm39)	D193E	probably benign	Het
Bhlhe22	T	C	3: 18,109,123 (GRCm39)	S58P	probably benign	Het
Clasrp	C	A	7: 19,319,165 (GRCm39)		probably benign	Het
Cylc2	C	G	4: 51,229,651 (GRCm39)	T331R	unknown	Het
Epha10	A	G	4: 124,809,480 (GRCm39)		probably benign	Het
Farp2	A	T	1: 93,546,732 (GRCm39)	N917I	probably damaging	Het
Fbh1	A	G	2: 11,753,828 (GRCm39)	V838A	possibly damaging	Het
Fras1	T	A	5: 96,929,207 (GRCm39)	N3870K	probably damaging	Het
Gm6632	C	T	5: 59,211,821 (GRCm39)		noncoding transcript	Het
Gpr20	T	C	15: 73,568,321 (GRCm39)	T23A	probably benign	Het
Grb14	A	C	2: 64,852,912 (GRCm39)	V26G	probably damaging	Het
H2-T5	A	T	17: 36,472,372 (GRCm39)		probably benign	Het
Itgb4	G	A	11: 115,874,087 (GRCm39)		silent	Het
Jak1	T	C	4: 101,011,800 (GRCm39)	T1101A	probably benign	Het
Kcnq3	A	T	15: 65,867,191 (GRCm39)	Y817*	probably null	Het
Krtcap2	A	G	3: 89,153,563 (GRCm39)		probably benign	Het
Lhx5	C	A	5: 120,578,073 (GRCm39)	H298N	possibly damaging	Het
Lrig3	C	T	10: 125,849,216 (GRCm39)	P979S	probably benign	Het
Map3k13	A	G	16: 21,740,928 (GRCm39)	S752G	probably benign	Het
Map4	T	C	9: 109,861,253 (GRCm39)	S206P	probably benign	Het
Mon2	A	G	10: 122,845,494 (GRCm39)	S1405P	probably damaging	Het
Mvb12a	G	T	8: 71,996,103 (GRCm39)	A86S	probably benign	Het
Or5p62	T	C	7: 107,771,175 (GRCm39)	I259V	probably benign	Het
Or8a1b	C	T	9: 37,622,760 (GRCm39)	V272I	probably benign	Het
Pithd1	T	C	4: 135,706,144 (GRCm39)	N37S	probably benign	Het
Piwil4	T	C	9: 14,637,259 (GRCm39)	T352A	probably damaging	Het
Prb1a	T	A	6: 132,184,533 (GRCm39)	R367*	probably null	Het
Ptprs	T	C	17: 56,758,678 (GRCm39)	N181S	possibly damaging	Het
Rcbtb2	T	C	14: 73,411,345 (GRCm39)	L370P	probably damaging	Het
Ric8a	A	G	7: 140,438,429 (GRCm39)	I223V	probably benign	Het
Runx1t1	G	T	4: 13,889,676 (GRCm39)	C535F	probably damaging	Het
Samd4b	A	G	7: 28,106,925 (GRCm39)	M329T	probably benign	Het
Serpinb9g	T	A	13: 33,670,546 (GRCm39)	F11L	probably damaging	Het
Slc25a51	C	T	4: 45,399,768 (GRCm39)	V141M	probably benign	Het
Sp110	T	G	1: 85,516,894 (GRCm39)	Q201P	probably damaging	Het
Taar3	A	G	10: 23,825,471 (GRCm39)	I6V	possibly damaging	Het
Tjp2	T	C	19: 24,086,195 (GRCm39)	T776A	possibly damaging	Het
Tmc1	C	T	19: 20,845,738 (GRCm39)	V162I	probably benign	Het
Upf1	G	A	8: 70,790,216 (GRCm39)	R637C	probably damaging	Het
Ush2a	A	G	1: 188,460,793 (GRCm39)	T2685A	possibly damaging	Het
Vmn2r102	C	T	17: 19,880,845 (GRCm39)	T62I	probably benign	Het
Vps13c	A	T	9: 67,846,316 (GRCm39)	Q2128L	probably benign	Het
Zfp26	T	C	9: 20,353,561 (GRCm39)	E76G	probably benign	Het
Zfp28	T	C	7: 6,397,160 (GRCm39)	S532P	probably damaging	Het

Other mutations in Psmb4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01351:Psmb4	APN	3	94,793,538 (GRCm39)	splice site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- ATTCTCTGGGGTCAAAGTGC -3'
(R):5'- TGTAAGTCGCCTCCAAGTGG -3'

Sequencing Primer
(F):5'- ATGCCCGATGACCCAAGTTTG -3'
(R):5'- CCGTTTATTATTCCTGTAGGCG -3'

Posted On

2015-07-21