Mutagenetix > Incidental Mutation

Incidental Mutation 'R0322:Psmb4'

25602

Institutional Source

Beutler Lab

Gene Symbol

Psmb4

Ensembl Gene

ENSMUSG00000005779

Gene Name

proteasome (prosome, macropain) subunit, beta type 4

Synonyms

Pros-27

MMRRC Submission

038532-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.873) question?

Stock #

R0322 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94791635-94794269 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 94793402 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 160 (Y160H)

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 benign
Transcript: ENSMUST00000005923
AA Change: Y160H

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000005923
Gene: ENSMUSG00000005779
AA Change: Y160H

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

0.0597

Coding Region Coverage

1x: 98.7%
3x: 97.5%
10x: 93.8%
20x: 84.3%

Validation Efficiency

98% (58/59)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130401M01Rik	A	T	15: 57,888,768 (GRCm39)	S275T	possibly damaging	Het
Adam34	G	T	8: 44,104,958 (GRCm39)	T229N	probably benign	Het
Adgrb3	C	A	1: 25,260,829 (GRCm39)		probably benign	Het
Ankhd1	T	A	18: 36,791,061 (GRCm39)	Y2478*	probably null	Het
Arl9	A	G	5: 77,155,037 (GRCm39)		probably benign	Het
Bub1b	G	A	2: 118,470,099 (GRCm39)		probably benign	Het
Chl1	A	T	6: 103,678,844 (GRCm39)		probably benign	Het
Cobl	T	A	11: 12,217,072 (GRCm39)	E465V	probably damaging	Het
Cobll1	A	T	2: 64,932,442 (GRCm39)	M520K	possibly damaging	Het
Dll3	A	G	7: 27,995,793 (GRCm39)	V336A	possibly damaging	Het
Dnmbp	T	C	19: 43,843,285 (GRCm39)	H1193R	probably damaging	Het
Fbxo43	T	C	15: 36,152,338 (GRCm39)		probably benign	Het
Gart	G	A	16: 91,419,925 (GRCm39)		probably benign	Het
Gjc3	A	T	5: 137,955,760 (GRCm39)	M175K	possibly damaging	Het
Gpc5	T	A	14: 115,636,563 (GRCm39)	N415K	probably benign	Het
Idh2	C	T	7: 79,748,005 (GRCm39)	A232T	probably damaging	Het
Il7r	A	T	15: 9,510,301 (GRCm39)	F251I	probably benign	Het
Insc	A	G	7: 114,391,500 (GRCm39)	E141G	probably damaging	Het
Itm2c	C	T	1: 85,834,751 (GRCm39)	T160M	probably damaging	Het
Mboat1	T	C	13: 30,416,063 (GRCm39)		probably benign	Het
Mdm2	G	T	10: 117,538,109 (GRCm39)	H96Q	possibly damaging	Het
Mettl13	A	G	1: 162,371,745 (GRCm39)		probably benign	Het
Mfsd4b3-ps	T	C	10: 39,823,526 (GRCm39)	N245D	probably damaging	Het
Mroh2a	C	T	1: 88,158,402 (GRCm39)	R150*	probably null	Het
Mtmr3	T	C	11: 4,437,505 (GRCm39)	Y982C	possibly damaging	Het
Mymk	A	T	2: 26,957,418 (GRCm39)	L66Q	probably damaging	Het
Myo18a	T	C	11: 77,720,626 (GRCm39)	S767P	probably damaging	Het
Ndufa8	T	C	2: 35,926,634 (GRCm39)	D134G	probably benign	Het
Noxa1	A	G	2: 24,982,566 (GRCm39)	F83S	probably damaging	Het
Npc1l1	T	A	11: 6,179,042 (GRCm39)	I123L	probably benign	Het
Ogdhl	A	G	14: 32,059,534 (GRCm39)	T394A	probably benign	Het
Or4s2b	T	C	2: 88,509,011 (GRCm39)	S264P	probably damaging	Het
Or5ae1	A	G	7: 84,565,521 (GRCm39)	Y178C	probably damaging	Het
Pcdh20	T	C	14: 88,706,383 (GRCm39)	T306A	probably benign	Het
Pcid2	G	A	8: 13,140,775 (GRCm39)		probably benign	Het
Phyhip	G	A	14: 70,700,836 (GRCm39)	V108M	possibly damaging	Het
Pnpla5	G	T	15: 84,004,920 (GRCm39)	L144M	probably damaging	Het
Riox2	A	T	16: 59,309,752 (GRCm39)	K369*	probably null	Het
Rnf26rt	T	C	6: 76,473,401 (GRCm39)	Y405C	probably benign	Het
Sh3tc1	G	A	5: 35,863,905 (GRCm39)	P761S	possibly damaging	Het
Slc6a3	T	A	13: 73,709,045 (GRCm39)	V323D	possibly damaging	Het
Smg7	A	G	1: 152,725,624 (GRCm39)		probably null	Het
Srrt	G	A	5: 137,294,870 (GRCm39)	R370C	probably damaging	Het
Stc1	T	C	14: 69,266,858 (GRCm39)	V7A	probably benign	Het
Svep1	G	T	4: 58,057,996 (GRCm39)		probably benign	Het
Tbpl2	A	G	2: 23,984,991 (GRCm39)	V51A	probably benign	Het
Tecr	A	G	8: 84,298,872 (GRCm39)	Y248H	probably damaging	Het
Tenm3	A	G	8: 48,689,947 (GRCm39)		probably benign	Het
Tia1	C	T	6: 86,397,369 (GRCm39)	A114V	probably damaging	Het
Tmprss11f	A	T	5: 86,739,275 (GRCm39)	M2K	probably benign	Het
Tnfsf8	T	C	4: 63,752,403 (GRCm39)	T221A	probably damaging	Het
Tubgcp5	G	A	7: 55,464,726 (GRCm39)	G536S	probably damaging	Het
Tyr	A	T	7: 87,142,125 (GRCm39)	I145N	probably benign	Het
Ubr4	T	A	4: 139,149,729 (GRCm39)	V1809E	probably damaging	Het
Vmn2r65	A	T	7: 84,595,756 (GRCm39)	N309K	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- AAGCATGTCCACATAACCGAGGAAG -3'
(R):5'- GGGGAGCCTGACCTGTTATCATTG -3'

Sequencing Primer
(F):5'- gagggtggggaagcagg -3'
(R):5'- GCCTGACCTGTTATCATTGCTTTC -3'

Posted On

2013-04-16