Mutagenetix > Incidental Mutation

Incidental Mutation 'R0581:Psmb4'

56415

Institutional Source

Beutler Lab

Gene Symbol

Psmb4

Ensembl Gene

ENSMUSG00000005779

Gene Name

proteasome (prosome, macropain) subunit, beta type 4

Synonyms

Pros-27

MMRRC Submission

038771-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.873) question?

Stock #

R0581 (G1)

Quality Score

154

Status

Validated

Chromosome

Chromosomal Location

94791635-94794269 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94793479 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 134 (H134R)

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: H134R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000005923
Gene: ENSMUSG00000005779
AA Change: H134R

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

0.9033

Coding Region Coverage

1x: 99.7%
3x: 99.0%
10x: 97.3%
20x: 93.7%

Validation Efficiency

95% (42/44)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	A	G	5: 4,100,620 (GRCm39)	T2761A	probably benign	Het
Apold1	G	A	6: 134,960,776 (GRCm39)	V77I	probably benign	Het
Atad2	T	C	15: 57,990,060 (GRCm39)	T139A	probably benign	Het
Cacna1a	A	T	8: 85,328,565 (GRCm39)	I1668F	possibly damaging	Het
Ccer2	T	A	7: 28,456,451 (GRCm39)		probably benign	Het
Cyp2c54	T	A	19: 40,035,999 (GRCm39)	T304S	probably benign	Het
Dpp4	T	A	2: 62,187,020 (GRCm39)	M497L	probably benign	Het
Evpl	T	A	11: 116,120,316 (GRCm39)	I541L	probably benign	Het
Ggn	A	G	7: 28,871,729 (GRCm39)	T370A	probably benign	Het
Ghr	A	G	15: 3,418,116 (GRCm39)		probably benign	Het
Gm6605	C	A	7: 38,147,699 (GRCm39)		noncoding transcript	Het
Gpr68	G	C	12: 100,844,815 (GRCm39)	P243R	probably damaging	Het
Gtf3c2	G	T	5: 31,316,862 (GRCm39)	Y720*	probably null	Het
Il2rb	T	A	15: 78,366,136 (GRCm39)	Y387F	possibly damaging	Het
Kcnu1	T	A	8: 26,427,529 (GRCm39)	V282E	probably damaging	Het
Krt222	G	A	11: 99,127,018 (GRCm39)	Q201*	probably null	Het
Lats1	A	G	10: 7,578,705 (GRCm39)	T610A	possibly damaging	Het
Mroh2a	GT	GTT	1: 88,183,888 (GRCm39)		probably null	Het
Myh7	T	C	14: 55,222,953 (GRCm39)	I751V	probably benign	Het
Mypn	A	G	10: 62,998,023 (GRCm39)	I429T	probably benign	Het
Nemf	A	T	12: 69,369,045 (GRCm39)	D723E	probably benign	Het
Nlrp4b	T	C	7: 10,448,457 (GRCm39)	L220P	probably damaging	Het
Npr3	T	A	15: 11,851,536 (GRCm39)	D418V	probably damaging	Het
Nsd3	A	G	8: 26,200,718 (GRCm39)	N1270S	probably damaging	Het
Or1j15	T	C	2: 36,458,834 (GRCm39)	S75P	probably damaging	Het
Or2g1	A	G	17: 38,106,993 (GRCm39)	I219M	probably damaging	Het
Otogl	G	A	10: 107,624,901 (GRCm39)	T1579I	possibly damaging	Het
Pkp2	T	A	16: 16,087,647 (GRCm39)		probably benign	Het
Psd3	T	C	8: 68,173,598 (GRCm39)	Y301C	probably damaging	Het
Ralgapb	A	G	2: 158,334,881 (GRCm39)	T1043A	probably benign	Het
Sec14l5	T	A	16: 4,996,349 (GRCm39)		probably null	Het
Serpina12	T	A	12: 103,997,399 (GRCm39)	Q374L	probably damaging	Het
Serpinb10	C	T	1: 107,474,692 (GRCm39)	R362*	probably null	Het
Sorcs1	T	A	19: 50,241,139 (GRCm39)	I416F	possibly damaging	Het
Sparcl1	T	C	5: 104,241,178 (GRCm39)	D82G	probably damaging	Het
Stat6	A	T	10: 127,483,985 (GRCm39)	Q89L	probably damaging	Het
Tat	A	G	8: 110,718,270 (GRCm39)	T52A	possibly damaging	Het
Yipf7	T	A	5: 69,678,406 (GRCm39)	I128F	probably benign	Het
Zfp112	T	A	7: 23,825,288 (GRCm39)	C419S	probably damaging	Het
Zzef1	A	G	11: 72,742,726 (GRCm39)	I769V	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
R0322:Psmb4	UTSW	3	94,793,402 (GRCm39)	missense	probably benign	0.05
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'- GCATGTCCACATAACCGAGGAAGC -3'
(R):5'- CAGATGGTGTAAGTCGCCTCCAAG -3'

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

Posted On

2013-07-11