Mutagenetix > Incidental Mutation

Incidental Mutation 'R4976:Psmb1'

382711

Institutional Source

Beutler Lab

Gene Symbol

Psmb1

Ensembl Gene

ENSMUSG00000014769

Gene Name

proteasome (prosome, macropain) subunit, beta type 1

Synonyms

Lmpc5

MMRRC Submission

042571-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.946) question?

Stock #

R4976 (G1)

Quality Score

202

Status

Not validated

Chromosome

Chromosomal Location

15695983-15718538 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to C at 15718524 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 1 (M1V)

Ref Sequence

ENSEMBL: ENSMUSP00000156355 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014911] [ENSMUST00000014913] [ENSMUST00000117593] [ENSMUST00000118001] [ENSMUST00000119879] [ENSMUST00000143924] [ENSMUST00000147081] [ENSMUST00000232500] [ENSMUST00000155051] [ENSMUST00000159197] [ENSMUST00000162505] [ENSMUST00000231341]

AlphaFold

O09061

Predicted Effect

probably benign
Transcript: ENSMUST00000014911

SMART Domains

Protein: ENSMUSP00000014911
Gene: ENSMUSG00000014767

Domain	Start	End	E-Value	Type
low complexity region	55	97	N/A	INTRINSIC
low complexity region	103	115	N/A	INTRINSIC
low complexity region	117	133	N/A	INTRINSIC
Pfam:TBP	138	222	4.3e-34	PFAM
Pfam:TBP	227	313	3.4e-35	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000014913
AA Change: M1V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000014913
Gene: ENSMUSG00000014769
AA Change: M1V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000117593

SMART Domains

Protein: ENSMUSP00000112794
Gene: ENSMUSG00000014767

Domain	Start	End	E-Value	Type
low complexity region	55	97	N/A	INTRINSIC
low complexity region	103	115	N/A	INTRINSIC
low complexity region	117	133	N/A	INTRINSIC
Pfam:TBP	138	222	4.3e-34	PFAM
Pfam:TBP	227	313	3.4e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118001

SMART Domains

Protein: ENSMUSP00000113999
Gene: ENSMUSG00000014767

Domain	Start	End	E-Value	Type
low complexity region	55	97	N/A	INTRINSIC
low complexity region	103	115	N/A	INTRINSIC
low complexity region	117	133	N/A	INTRINSIC
Pfam:TBP	138	204	1.4e-29	PFAM
Pfam:TBP	203	257	4.4e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119879

SMART Domains

Protein: ENSMUSP00000114007
Gene: ENSMUSG00000014767

Domain	Start	End	E-Value	Type
low complexity region	55	97	N/A	INTRINSIC
low complexity region	103	115	N/A	INTRINSIC
low complexity region	117	133	N/A	INTRINSIC
Pfam:TBP	138	222	8.9e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143924

SMART Domains

Protein: ENSMUSP00000122696
Gene: ENSMUSG00000014767

Domain	Start	End	E-Value	Type
low complexity region	55	97	N/A	INTRINSIC
low complexity region	103	115	N/A	INTRINSIC
low complexity region	117	133	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000147081

SMART Domains

Protein: ENSMUSP00000120484
Gene: ENSMUSG00000014767

Domain	Start	End	E-Value	Type
low complexity region	55	97	N/A	INTRINSIC
low complexity region	103	115	N/A	INTRINSIC
low complexity region	117	133	N/A	INTRINSIC
Pfam:TBP	138	178	9.6e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000232500

Predicted Effect

probably benign
Transcript: ENSMUST00000155051

SMART Domains

Protein: ENSMUSP00000117551
Gene: ENSMUSG00000014767

Domain	Start	End	E-Value	Type
low complexity region	55	70	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159197

SMART Domains

Protein: ENSMUSP00000125691
Gene: ENSMUSG00000014767

Domain	Start	End	E-Value	Type
low complexity region	55	97	N/A	INTRINSIC
low complexity region	103	115	N/A	INTRINSIC
low complexity region	117	128	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162505

SMART Domains

Protein: ENSMUSP00000124317
Gene: ENSMUSG00000014767

Domain	Start	End	E-Value	Type
low complexity region	55	97	N/A	INTRINSIC
low complexity region	103	115	N/A	INTRINSIC
low complexity region	117	133	N/A	INTRINSIC
Pfam:TBP	139	221	1.1e-34	PFAM
Pfam:TBP	229	312	8.5e-34	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000231341
AA Change: M1V

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232661

Meta Mutation Damage Score

0.8822

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 90.4%

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. 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: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	A	T	13: 61,001,387 (GRCm39)	Y113*	probably null	Het
Abcc2	C	T	19: 43,789,074 (GRCm39)	T243M	probably benign	Het
Actr6	A	T	10: 89,561,717 (GRCm39)	L143Q	probably damaging	Het
Adamts18	A	G	8: 114,425,642 (GRCm39)	Y1207H	probably benign	Het
Adamts2	A	G	11: 50,628,193 (GRCm39)	I298V	possibly damaging	Het
Adamts6	T	A	13: 104,433,998 (GRCm39)	S142R	probably damaging	Het
Adat2	A	T	10: 13,432,650 (GRCm39)	N51Y	probably damaging	Het
Alg6	G	A	4: 99,638,965 (GRCm39)		probably null	Het
Aoc3	T	A	11: 101,221,800 (GRCm39)	L12Q	probably damaging	Het
Aox3	G	A	1: 58,227,683 (GRCm39)		probably null	Het
Atp2b2	T	A	6: 113,736,122 (GRCm39)	I986F	probably damaging	Het
Axin1	G	T	17: 26,413,045 (GRCm39)	Q779H	probably benign	Het
Axin1	A	T	17: 26,413,044 (GRCm39)	Q779L	probably benign	Het
Bltp3a	T	C	17: 28,103,000 (GRCm39)	S345P	probably damaging	Het
Btaf1	T	C	19: 36,963,979 (GRCm39)	V850A	probably benign	Het
Camsap2	A	G	1: 136,232,124 (GRCm39)	V157A	probably damaging	Het
Ccdc191	T	C	16: 43,763,868 (GRCm39)	V443A	probably benign	Het
Cd1d1	T	A	3: 86,905,958 (GRCm39)	M106L	probably benign	Het
Cenpe	A	G	3: 134,940,637 (GRCm39)	D632G	probably damaging	Het
Cnih2	T	A	19: 5,143,957 (GRCm39)		probably null	Het
Crnkl1	G	T	2: 145,765,796 (GRCm39)	Q425K	possibly damaging	Het
Crnn	T	A	3: 93,055,990 (GRCm39)	S259T	probably benign	Het
Cspp1	T	A	1: 10,196,688 (GRCm39)	N900K	probably damaging	Het
Ctc1	G	T	11: 68,918,152 (GRCm39)	G425C	probably damaging	Het
Dctn4	T	A	18: 60,689,464 (GRCm39)	I445N	probably benign	Het
Dnah7a	A	T	1: 53,737,851 (GRCm39)	D27E	probably benign	Het
Dock10	A	T	1: 80,545,711 (GRCm39)		probably null	Het
Dst	A	T	1: 34,235,050 (GRCm39)	K3710*	probably null	Het
Ecel1	T	A	1: 87,078,861 (GRCm39)	Y526F	probably benign	Het
Elp6	C	T	9: 110,143,141 (GRCm39)	P118L	probably damaging	Het
Enpp2	T	A	15: 54,733,701 (GRCm39)	R420*	probably null	Het
Ep400	A	G	5: 110,846,678 (GRCm39)	F1480L	unknown	Het
Ep400	T	C	5: 110,868,622 (GRCm39)	E934G	unknown	Het
Epb41	A	C	4: 131,664,747 (GRCm39)		probably benign	Het
Epha5	A	T	5: 84,232,683 (GRCm39)	V777E	probably damaging	Het
Erp44	A	T	4: 48,208,797 (GRCm39)	M221K	probably benign	Het
Esp36	T	C	17: 38,728,177 (GRCm39)	T35A	possibly damaging	Het
Flvcr1	T	C	1: 190,757,692 (GRCm39)	Q158R	probably damaging	Het
Fsip2	A	T	2: 82,818,535 (GRCm39)	D4756V	probably damaging	Het
Fzd10	T	A	5: 128,679,178 (GRCm39)	Y299*	probably null	Het
Gabrg1	C	A	5: 70,931,754 (GRCm39)	V330L	possibly damaging	Het
Gata4	A	T	14: 63,441,138 (GRCm39)	N87K	probably damaging	Het
Gdpd3	A	T	7: 126,366,454 (GRCm39)	N97I	probably damaging	Het
Gm28042	G	A	2: 119,865,124 (GRCm39)	A250T	probably damaging	Het
Golim4	T	C	3: 75,785,950 (GRCm39)		probably null	Het
Gpr183	G	T	14: 122,192,275 (GRCm39)	T82N	possibly damaging	Het
Hsd17b4	T	C	18: 50,293,202 (GRCm39)	L247S	probably damaging	Het
Hsdl1	T	A	8: 120,292,606 (GRCm39)	Y203F	possibly damaging	Het
Igkv17-121	A	G	6: 68,014,068 (GRCm39)	K40R	probably benign	Het
Igsf3	T	A	3: 101,346,677 (GRCm39)		probably null	Het
Ints1	C	A	5: 139,738,566 (GRCm39)	G110C	probably damaging	Het
Klhdc8b	A	T	9: 108,328,386 (GRCm39)	V22E	probably damaging	Het
Kmt2d	G	A	15: 98,745,075 (GRCm39)		probably benign	Het
Kpna2	C	T	11: 106,882,295 (GRCm39)	G204S	probably damaging	Het
Ktn1	G	A	14: 47,907,756 (GRCm39)		probably null	Het
Ldah	G	A	12: 8,277,237 (GRCm39)	A58T	probably benign	Het
Lmx1a	G	T	1: 167,619,123 (GRCm39)	A161S	possibly damaging	Het
Lrig1	T	C	6: 94,602,043 (GRCm39)	Y270C	probably damaging	Het
Lrrc24	T	C	15: 76,600,200 (GRCm39)	Q313R	probably benign	Het
Ltbp1	T	C	17: 75,628,090 (GRCm39)		probably null	Het
Luzp1	A	G	4: 136,270,708 (GRCm39)	D977G	possibly damaging	Het
Mbd4	T	C	6: 115,827,685 (GRCm39)	T43A	possibly damaging	Het
Meak7	A	C	8: 120,494,882 (GRCm39)	L292R	probably damaging	Het
Meltf	T	C	16: 31,713,532 (GRCm39)	S592P	probably benign	Het
Mrgpra4	A	G	7: 47,631,466 (GRCm39)	L45P	probably damaging	Het
Mrpl39	A	G	16: 84,531,293 (GRCm39)		probably null	Het
Myocd	T	C	11: 65,112,876 (GRCm39)	T79A	probably benign	Het
Myt1l	A	G	12: 29,882,302 (GRCm39)	E499G	unknown	Het
Ncan	C	T	8: 70,567,675 (GRCm39)	E146K	probably damaging	Het
Ncoa3	T	A	2: 165,889,820 (GRCm39)	D68E	probably damaging	Het
Nt5m	T	A	11: 59,765,381 (GRCm39)	Y136*	probably null	Het
Or10h5	C	T	17: 33,434,728 (GRCm39)	A200T	probably benign	Het
Or4c12	A	T	2: 89,774,147 (GRCm39)	I104N	possibly damaging	Het
Or51m1	A	T	7: 103,578,944 (GRCm39)	I305F	probably benign	Het
Or5p66	A	C	7: 107,885,818 (GRCm39)	C172G	probably damaging	Het
Or7g21	G	A	9: 19,032,797 (GRCm39)	C179Y	probably damaging	Het
Pak6	A	T	2: 118,525,029 (GRCm39)	I552F	probably damaging	Het
Pcyox1	T	A	6: 86,365,708 (GRCm39)	K502M	probably damaging	Het
Phyhipl	A	T	10: 70,404,904 (GRCm39)	D56E	probably damaging	Het
Ppp2r2a	A	T	14: 67,254,086 (GRCm39)	S361T	possibly damaging	Het
Prim1	A	T	10: 127,851,131 (GRCm39)	D5V	probably damaging	Het
Prl7a1	A	T	13: 27,817,564 (GRCm39)	H233Q	possibly damaging	Het
Prpf40a	A	G	2: 53,034,861 (GRCm39)	F776L	probably damaging	Het
Reln	T	A	5: 22,176,868 (GRCm39)	N1933Y	probably benign	Het
Retsat	T	A	6: 72,578,609 (GRCm39)	M107K	probably damaging	Het
Rhbdl1	C	T	17: 26,054,002 (GRCm39)	W289*	probably null	Het
Rlf	G	A	4: 121,004,652 (GRCm39)	H1443Y	probably damaging	Het
Rpgrip1l	T	C	8: 92,007,444 (GRCm39)	E382G	probably damaging	Het
Rprd2	T	A	3: 95,673,661 (GRCm39)	T497S	probably damaging	Het
Rps6kc1	T	C	1: 190,530,924 (GRCm39)	T936A	probably damaging	Het
Scgb1b10	A	G	7: 31,800,609 (GRCm39)	Q66R	possibly damaging	Het
Scrib	C	T	15: 75,923,602 (GRCm39)		probably null	Het
Setbp1	T	A	18: 79,129,927 (GRCm39)	T102S	probably damaging	Het
Shox2	T	C	3: 66,881,008 (GRCm39)		probably benign	Het
Skp1	C	A	11: 52,134,458 (GRCm39)	T63N	probably benign	Het
Slc10a6	C	T	5: 103,754,470 (GRCm39)	V354M	probably benign	Het
Slc35f3	T	C	8: 127,116,020 (GRCm39)		probably null	Het
Slc8b1	T	A	5: 120,663,740 (GRCm39)	L320*	probably null	Het
Snap29	T	A	16: 17,237,132 (GRCm39)	L81Q	probably damaging	Het
Sorl1	A	G	9: 41,894,299 (GRCm39)	I1837T	probably benign	Het
Spmip4	T	A	6: 50,566,164 (GRCm39)		probably null	Het
Tacr3	A	G	3: 134,638,033 (GRCm39)	T397A	probably benign	Het
Tcte1	T	C	17: 45,845,854 (GRCm39)	F153L	probably damaging	Het
Them7	A	G	2: 105,209,153 (GRCm39)	T158A	probably benign	Het
Tmprss4	A	G	9: 45,084,706 (GRCm39)	S433P	possibly damaging	Het
Tpcn1	T	C	5: 120,698,387 (GRCm39)	H45R	probably benign	Het
Vps13d	A	G	4: 144,832,468 (GRCm39)	S2813P	possibly damaging	Het
Wdfy3	C	T	5: 102,090,985 (GRCm39)	D532N	probably benign	Het
Zbed6	T	C	1: 133,585,832 (GRCm39)	T502A	probably benign	Het
Zfp277	A	G	12: 40,378,687 (GRCm39)	V390A	possibly damaging	Het

Other mutations in Psmb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02227:Psmb1	APN	17	15,710,546 (GRCm39)	start codon destroyed	probably null	0.21
R0416:Psmb1	UTSW	17	15,714,781 (GRCm39)	missense	probably benign	0.00
R3908:Psmb1	UTSW	17	15,710,543 (GRCm39)	missense	probably damaging	1.00
R4946:Psmb1	UTSW	17	15,718,478 (GRCm39)	missense	probably benign	0.01
R4979:Psmb1	UTSW	17	15,696,451 (GRCm39)	missense	probably benign	0.23
R5119:Psmb1	UTSW	17	15,718,524 (GRCm39)	start codon destroyed	probably null	0.99
R5506:Psmb1	UTSW	17	15,710,478 (GRCm39)	missense	probably damaging	1.00
R5939:Psmb1	UTSW	17	15,718,440 (GRCm39)	missense	probably damaging	1.00
R6848:Psmb1	UTSW	17	15,697,509 (GRCm39)	missense	probably benign	0.03
R7178:Psmb1	UTSW	17	15,697,521 (GRCm39)	missense	possibly damaging	0.50
R7701:Psmb1	UTSW	17	15,697,509 (GRCm39)	missense	probably benign	0.03
R7891:Psmb1	UTSW	17	15,714,748 (GRCm39)	missense	probably benign	0.01
R9369:Psmb1	UTSW	17	15,710,478 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGTCCATGCACAACTGAGTG -3'
(R):5'- TCTATCCGCCATGAGTAAATCC -3'

Sequencing Primer
(F):5'- ACAACTGAGTGCTGGGCTG -3'
(R):5'- CGCCATGAGTAAATCCAAACGTTTTC -3'

Posted On

2016-04-27