Mutagenetix > Incidental Mutation

Incidental Mutation 'R9218:Psmd5'

699288

Institutional Source

Beutler Lab

Gene Symbol

Psmd5

Ensembl Gene

ENSMUSG00000026869

Gene Name

proteasome (prosome, macropain) 26S subunit, non-ATPase, 5

Synonyms

S5b, 1500032A03Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9218 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34742099-34760983 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 34747794 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 288 (Q288K)

Ref Sequence

ENSEMBL: ENSMUSP00000028225 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028225]

AlphaFold

Q8BJY1

Predicted Effect

probably benign
Transcript: ENSMUST00000028225
AA Change: Q288K

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000028225
Gene: ENSMUSG00000026869
AA Change: Q288K

Domain	Start	End	E-Value	Type
Pfam:Proteasom_PSMB	1	504	3.8e-199	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000135575

SMART Domains

Protein: ENSMUSP00000116880
Gene: ENSMUSG00000026869

Domain	Start	End	E-Value	Type
Pfam:Proteasom_PSMB	1	56	1.4e-17	PFAM
Pfam:Proteasom_PSMB	51	140	1.5e-34	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

93% (57/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core 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. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase 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. This gene encodes a non-ATPase subunit of the 19S regulator base that functions as a chaperone protein during 26S proteasome assembly. [provided by RefSeq, Jul 2012]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,610,460 (GRCm39)	T378A	probably damaging	Het
Abcb4	A	G	5: 8,977,960 (GRCm39)	M513V	probably benign	Het
Abhd18	T	C	3: 40,871,201 (GRCm39)		probably null	Het
Adamtsl4	A	T	3: 95,588,404 (GRCm39)	Y561*	probably null	Het
Alx4	T	A	2: 93,473,172 (GRCm39)	F57I	possibly damaging	Het
Ap3b1	A	G	13: 94,584,959 (GRCm39)		probably null	Het
Arsj	A	C	3: 126,232,114 (GRCm39)	N287H	probably benign	Het
Bltp3a	T	A	17: 28,114,529 (GRCm39)	C1387S	probably benign	Het
Cabp4	T	A	19: 4,188,693 (GRCm39)		probably null	Het
Cdcp3	C	T	7: 130,863,728 (GRCm39)	H1244Y	unknown	Het
Cdh6	T	C	15: 13,057,556 (GRCm39)	N255S	probably null	Het
Ctrb1	C	T	8: 112,416,140 (GRCm39)	V49M	probably damaging	Het
Cts3	A	G	13: 61,716,583 (GRCm39)	S18P	possibly damaging	Het
Dcst1	A	T	3: 89,272,412 (GRCm39)	I17N	probably benign	Het
Dennd5a	G	A	7: 109,507,592 (GRCm39)	H823Y	probably damaging	Het
Dmrt2	T	G	19: 25,651,066 (GRCm39)	L84R	possibly damaging	Het
Dock9	G	T	14: 121,905,871 (GRCm39)	T93K	probably damaging	Het
Fsip2	C	T	2: 82,823,062 (GRCm39)	P6265L	probably damaging	Het
Fxn	T	A	19: 24,239,388 (GRCm39)	K168M	probably damaging	Het
Hc	A	G	2: 34,922,203 (GRCm39)	L541P	probably damaging	Het
Hsd3b5	T	C	3: 98,526,354 (GRCm39)	H364R	probably benign	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Inf2	G	A	12: 112,567,858 (GRCm39)	D163N	possibly damaging	Het
Iqcd	C	T	5: 120,738,707 (GRCm39)	P175L	possibly damaging	Het
Iqck	C	T	7: 118,540,902 (GRCm39)	A267V	probably damaging	Het
Kcnh1	A	T	1: 192,135,938 (GRCm39)	N66I	unknown	Het
Kif16b	T	A	2: 142,541,583 (GRCm39)	E1239V	possibly damaging	Het
Mctp1	A	G	13: 76,871,816 (GRCm39)	D362G	possibly damaging	Het
Muc5ac	T	A	7: 141,361,098 (GRCm39)	S1470T	probably damaging	Het
Neb	A	G	2: 52,183,638 (GRCm39)		probably null	Het
Odc1	T	A	12: 17,598,312 (GRCm39)	L151*	probably null	Het
Or4e1	A	T	14: 52,700,788 (GRCm39)	V226E	probably damaging	Het
Or51f23c-ps1	T	C	7: 102,431,373 (GRCm39)	I230T	possibly damaging	Het
Otof	T	A	5: 30,542,469 (GRCm39)	Q693L	probably benign	Het
Pitpnm2	G	A	5: 124,265,344 (GRCm39)	S753F	probably damaging	Het
Pkd1l3	C	A	8: 110,382,128 (GRCm39)	S1632*	probably null	Het
Pkhd1l1	A	G	15: 44,384,122 (GRCm39)	T1171A	possibly damaging	Het
Plpp2	A	G	10: 79,366,501 (GRCm39)	F104L	probably damaging	Het
Pmaip1	A	G	18: 66,596,370 (GRCm39)	R80G	probably damaging	Het
Pms2	G	A	5: 143,867,945 (GRCm39)	V850I	probably benign	Het
Rab37	G	A	11: 115,051,475 (GRCm39)	R194H	probably damaging	Het
Sds	C	T	5: 120,621,677 (GRCm39)	A273V	probably damaging	Het
Sema4f	A	G	6: 82,890,480 (GRCm39)	S776P	probably benign	Het
Sh3tc2	T	C	18: 62,101,101 (GRCm39)	C65R	probably benign	Het
Siglece	C	T	7: 43,307,162 (GRCm39)	R275H	possibly damaging	Het
Slc6a12	G	A	6: 121,335,623 (GRCm39)	A318T	probably damaging	Het
Smcr8	A	T	11: 60,670,705 (GRCm39)	I618L	probably benign	Het
Stt3a	A	G	9: 36,670,556 (GRCm39)	F72L	probably damaging	Het
Tecpr1	T	C	5: 144,154,049 (GRCm39)	K135E	possibly damaging	Het
Tmem62	A	G	2: 120,835,224 (GRCm39)	I516M	probably benign	Het
Tnpo2	C	A	8: 85,776,609 (GRCm39)	H439N	possibly damaging	Het
Tut4	A	T	4: 108,370,083 (GRCm39)	K661*	probably null	Het
Txlnb	C	T	10: 17,718,570 (GRCm39)	S467F	probably damaging	Het
Tyw5	G	A	1: 57,435,948 (GRCm39)	P81S	probably damaging	Het
Vamp2	A	G	11: 68,980,585 (GRCm39)	D51G	possibly damaging	Het
Vmn1r220	T	A	13: 23,368,609 (GRCm39)	Y29F	probably benign	Het
Vmn2r80	A	G	10: 79,030,270 (GRCm39)	T699A	possibly damaging	Het
Vps9d1	G	A	8: 123,977,674 (GRCm39)	T87I	probably benign	Het
Zfhx3	T	C	8: 109,520,501 (GRCm39)	V541A	probably benign	Het
Zmym4	A	T	4: 126,809,415 (GRCm39)	L295Q	probably damaging	Het

Other mutations in Psmd5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01815:Psmd5	APN	2	34,742,783 (GRCm39)	missense	probably benign	0.05
IGL01929:Psmd5	APN	2	34,753,478 (GRCm39)	missense	probably damaging	0.96
IGL02019:Psmd5	APN	2	34,744,286 (GRCm39)	missense	probably benign	0.16
IGL02291:Psmd5	APN	2	34,747,811 (GRCm39)	missense	probably benign
IGL02402:Psmd5	APN	2	34,747,784 (GRCm39)	missense	probably damaging	0.98
R1597:Psmd5	UTSW	2	34,757,035 (GRCm39)	missense	probably damaging	0.97
R1820:Psmd5	UTSW	2	34,760,758 (GRCm39)	splice site	probably null
R4855:Psmd5	UTSW	2	34,742,564 (GRCm39)	utr 3 prime	probably benign
R4948:Psmd5	UTSW	2	34,760,795 (GRCm39)	missense	probably benign	0.00
R5019:Psmd5	UTSW	2	34,755,965 (GRCm39)	intron	probably benign
R5633:Psmd5	UTSW	2	34,746,500 (GRCm39)	missense	probably benign	0.00
R6208:Psmd5	UTSW	2	34,757,023 (GRCm39)	missense	probably damaging	1.00
R6765:Psmd5	UTSW	2	34,746,545 (GRCm39)	missense	probably benign
R6787:Psmd5	UTSW	2	34,747,649 (GRCm39)	critical splice donor site	probably null
R7594:Psmd5	UTSW	2	34,750,741 (GRCm39)	missense	probably benign	0.12
R7883:Psmd5	UTSW	2	34,746,524 (GRCm39)	missense	possibly damaging	0.81
R8409:Psmd5	UTSW	2	34,760,856 (GRCm39)	missense	probably damaging	0.99
R8886:Psmd5	UTSW	2	34,747,755 (GRCm39)	missense	possibly damaging	0.71
R9457:Psmd5	UTSW	2	34,744,338 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGCCCAAAATATGTCTTACAAAAGC -3'
(R):5'- TGGAACCACACAGATGGGTC -3'

Sequencing Primer
(F):5'- TGTCTTACAAAAGCCAAGTCAAGTC -3'
(R):5'- CCACACAGATGGGTCTTTGAATC -3'

Posted On

2022-02-07