Mutagenetix > Incidental Mutation

Incidental Mutation 'R6160:Psmb7'

489790

Institutional Source

Beutler Lab

Gene Symbol

Psmb7

Ensembl Gene

ENSMUSG00000026750

Gene Name

proteasome (prosome, macropain) subunit, beta type 7

Synonyms

MC14

MMRRC Submission

044307-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R6160 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38478058-38533964 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38533393 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 45 (T45A)

Ref Sequence

ENSEMBL: ENSMUSP00000028083 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028083]

AlphaFold

P70195

PDB Structure

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000028083
AA Change: T45A

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

SMART Domains

Protein: ENSMUSP00000028083
Gene: ENSMUSG00000026750
AA Change: T45A

Domain	Start	End	E-Value	Type
Pfam:Proteasome	40	221	5.4e-52	PFAM
Pfam:Pr_beta_C	235	271	2e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151981

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

94% (62/66)

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. The encoded protein is a member of the proteasome B-type family, also known as the T1B family, and is a 20S core beta subunit in the proteasome. Expression of this catalytic subunit is downregulated by gamma interferon, and proteolytic processing is required to generate a mature subunit. A pseudogene of this gene is located on the long arm of chromosome 14. [provided by RefSeq, Jul 2012]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	T	A	7: 40,642,950 (GRCm39)	S297R	possibly damaging	Het
5530400C23Rik	A	G	6: 133,271,289 (GRCm39)	E111G	possibly damaging	Het
8030423J24Rik	T	A	13: 71,032,029 (GRCm39)	S34T	unknown	Het
Ace3	T	A	11: 105,885,558 (GRCm39)	W20R	possibly damaging	Het
Adgrf1	A	G	17: 43,621,578 (GRCm39)	E605G	probably damaging	Het
Arhgap44	G	A	11: 65,053,375 (GRCm39)		probably benign	Het
Atm	A	C	9: 53,402,259 (GRCm39)	H1404Q	probably benign	Het
AW209491	A	G	13: 14,811,306 (GRCm39)	E53G	probably damaging	Het
Bhmt1b	G	A	18: 87,775,245 (GRCm39)	C256Y	probably damaging	Het
Cdt1	C	T	8: 123,298,107 (GRCm39)	T366I	probably benign	Het
Cerk	A	T	15: 86,026,974 (GRCm39)	C179S	probably benign	Het
Cldn10	T	C	14: 119,099,255 (GRCm39)	V123A	possibly damaging	Het
Clip1	T	C	5: 123,751,604 (GRCm39)	K726E	possibly damaging	Het
Dcaf12	A	T	4: 41,294,043 (GRCm39)	Y365N	probably damaging	Het
Dennd6b	A	G	15: 89,073,024 (GRCm39)	L171P	probably damaging	Het
Dip2c	G	A	13: 9,583,290 (GRCm39)	V91I	probably benign	Het
Dlec1	A	G	9: 118,972,387 (GRCm39)	I1431V	probably benign	Het
Egln1	T	C	8: 125,675,231 (GRCm39)	D188G	probably damaging	Het
Enpp5	T	A	17: 44,392,259 (GRCm39)	N229K	possibly damaging	Het
Fmo1	T	G	1: 162,663,867 (GRCm39)	I221L	probably benign	Het
Fsip2	G	A	2: 82,818,289 (GRCm39)	W4674*	probably null	Het
Gm12185	G	A	11: 48,799,255 (GRCm39)	Q413*	probably null	Het
Gm7298	A	T	6: 121,741,886 (GRCm39)	H436L	probably benign	Het
Gucy2c	G	A	6: 136,717,684 (GRCm39)	Q430*	probably null	Het
Hgd	A	G	16: 37,433,660 (GRCm39)	H134R	probably damaging	Het
Hoxd8	A	G	2: 74,536,343 (GRCm39)	E151G	probably damaging	Het
Il15ra	A	G	2: 11,724,827 (GRCm39)	D99G	probably damaging	Het
Ints4	T	A	7: 97,158,790 (GRCm39)		probably null	Het
Itgb1	T	A	8: 129,446,764 (GRCm39)	F426L	possibly damaging	Het
Itpr1	A	C	6: 108,495,716 (GRCm39)	I2534L	probably benign	Het
Kcnq4	T	A	4: 120,573,756 (GRCm39)	H235L	probably damaging	Het
Kcnt1	T	A	2: 25,782,395 (GRCm39)	I178N	probably damaging	Het
Kidins220	A	G	12: 25,047,310 (GRCm39)	D252G	probably damaging	Het
Krt23	A	G	11: 99,376,544 (GRCm39)	I204T	probably damaging	Het
Lipo4	A	G	19: 33,480,693 (GRCm39)	L225P	probably damaging	Het
Lrp3	T	C	7: 34,903,548 (GRCm39)	D245G	possibly damaging	Het
Mmp16	A	G	4: 18,051,857 (GRCm39)	D282G	probably damaging	Het
Myo1c	A	T	11: 75,541,568 (GRCm39)	H18L	probably benign	Het
Myo1f	C	A	17: 33,823,318 (GRCm39)	P981Q	probably benign	Het
Nle1	A	T	11: 82,798,983 (GRCm39)	F33I	probably benign	Het
Nlrp4e	T	G	7: 23,020,731 (GRCm39)	M406R	probably damaging	Het
Obscn	A	T	11: 58,942,611 (GRCm39)	V4857E	probably damaging	Het
Palb2	A	T	7: 121,727,643 (GRCm39)		probably null	Het
Phospho1	A	T	11: 95,721,450 (GRCm39)	E22V	probably damaging	Het
Pom121l2	C	T	13: 22,167,838 (GRCm39)	S703L	possibly damaging	Het
Prex2	T	C	1: 11,064,075 (GRCm39)	L20P	probably damaging	Het
R3hdm2	T	C	10: 127,320,376 (GRCm39)	I532T	probably damaging	Het
Rcn1	T	C	2: 105,222,362 (GRCm39)	D208G	probably damaging	Het
Recql5	A	G	11: 115,823,613 (GRCm39)		probably null	Het
Resf1	G	A	6: 149,233,005 (GRCm39)		probably null	Het
Rfc4	A	T	16: 22,933,433 (GRCm39)	I242N	probably damaging	Het
Rims1	T	C	1: 22,503,235 (GRCm39)	Y650C	probably damaging	Het
Shc2	C	T	10: 79,462,853 (GRCm39)		probably null	Het
Slc14a2	A	T	18: 78,202,190 (GRCm39)		probably null	Het
Slc6a6	A	T	6: 91,716,995 (GRCm39)		probably null	Het
Synj2	C	A	17: 6,058,336 (GRCm39)	H275N	possibly damaging	Het
T	A	T	17: 8,660,618 (GRCm39)	T410S	probably benign	Het
Tars3	A	G	7: 65,332,527 (GRCm39)	I543V	probably benign	Het
Tbc1d8	T	A	1: 39,411,484 (GRCm39)	K1117N	probably damaging	Het
Tm7sf3	A	T	6: 146,507,787 (GRCm39)	L425*	probably null	Het
Trav14-3	A	G	14: 54,000,978 (GRCm39)	Y63C	probably damaging	Het
Tyro3	A	C	2: 119,633,751 (GRCm39)	D133A	probably damaging	Het
Vmn1r119	T	G	7: 20,745,740 (GRCm39)	H214P	possibly damaging	Het
Vmn2r120	G	A	17: 57,816,418 (GRCm39)	P646S	probably benign	Het
Zbtb7c	A	T	18: 76,278,904 (GRCm39)	Y454F	probably benign	Het
Zmym2	T	C	14: 57,187,766 (GRCm39)	L1144P	probably damaging	Het

Other mutations in Psmb7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
reclamation	UTSW	2	38,523,976 (GRCm39)	missense	possibly damaging	0.94
R0029:Psmb7	UTSW	2	38,523,919 (GRCm39)	missense	probably damaging	0.96
R0102:Psmb7	UTSW	2	38,533,377 (GRCm39)	missense	possibly damaging	0.80
R0102:Psmb7	UTSW	2	38,533,377 (GRCm39)	missense	possibly damaging	0.80
R3822:Psmb7	UTSW	2	38,503,440 (GRCm39)	splice site	probably benign
R4064:Psmb7	UTSW	2	38,530,188 (GRCm39)	missense	probably damaging	0.98
R4108:Psmb7	UTSW	2	38,532,211 (GRCm39)	missense	probably damaging	0.99
R4787:Psmb7	UTSW	2	38,478,283 (GRCm39)	missense	probably benign	0.00
R5731:Psmb7	UTSW	2	38,478,289 (GRCm39)	missense	probably damaging	1.00
R6266:Psmb7	UTSW	2	38,530,199 (GRCm39)	missense	probably damaging	1.00
R7616:Psmb7	UTSW	2	38,523,976 (GRCm39)	missense	possibly damaging	0.94
R8909:Psmb7	UTSW	2	38,503,481 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CTTAGGAAAAGCCAAATTGCCCTC -3'
(R):5'- TGATCACACTGGGGTGGAAG -3'

Sequencing Primer
(F):5'- AGCCAAATTGCCCTCATGTG -3'
(R):5'- GGTGGAAGAAAATTGAGTTCCTTCC -3'

Posted On

2017-10-10