Mutagenetix > Incidental Mutation

Incidental Mutation 'R6208:Psmd5'

503242

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

044342-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6208 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34742099-34760983 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34757023 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 67 (I67N)

Ref Sequence

ENSEMBL: ENSMUSP00000028225 (fasta)

Gene Model

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

AlphaFold

Q8BJY1

Predicted Effect

probably damaging
Transcript: ENSMUST00000028225
AA Change: I67N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000028225
Gene: ENSMUSG00000026869
AA Change: I67N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143456

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189715

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202917

Meta Mutation Damage Score

0.8419

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (57/58)

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
Actl6a	A	T	3: 32,766,043 (GRCm39)	I18F	probably benign	Het
Apol11a	C	T	15: 77,401,241 (GRCm39)	R243C	probably damaging	Het
Asap3	A	G	4: 135,968,508 (GRCm39)	M687V	probably benign	Het
Axdnd1	C	T	1: 156,220,426 (GRCm39)		probably benign	Het
Baz2b	A	G	2: 59,755,150 (GRCm39)	F1026S	probably damaging	Het
Bsg	T	C	10: 79,544,672 (GRCm39)	L70P	probably damaging	Het
Col10a1	A	G	10: 34,270,582 (GRCm39)	N185D	possibly damaging	Het
Col6a2	T	A	10: 76,450,891 (GRCm39)	N50I	possibly damaging	Het
Cux2	G	A	5: 121,998,885 (GRCm39)	P1352S	possibly damaging	Het
Defa25	A	G	8: 21,575,197 (GRCm39)		probably null	Het
Emc1	G	T	4: 139,081,582 (GRCm39)	R70L	probably damaging	Het
Fat1	T	C	8: 45,480,650 (GRCm39)	F3028S	probably damaging	Het
Fhit	T	C	14: 9,573,435 (GRCm38)	E205G	probably benign	Het
Gaa	C	A	11: 119,171,997 (GRCm39)	A700D	probably benign	Het
Gm20830	T	G	Y: 6,916,792 (GRCm39)	E109A	probably benign	Homo
Grm1	A	T	10: 10,595,690 (GRCm39)	F646Y	probably damaging	Het
Hp1bp3	A	G	4: 137,944,481 (GRCm39)		probably benign	Het
Lce1d	G	A	3: 92,593,312 (GRCm39)	P34S	unknown	Het
Lpar1	G	A	4: 58,504,630 (GRCm39)	Q13*	probably null	Het
Lrrc61	C	T	6: 48,545,839 (GRCm39)	R221*	probably null	Het
Map2	A	G	1: 66,470,749 (GRCm39)	N328D	probably damaging	Het
Mndal	T	A	1: 173,684,988 (GRCm39)	D527V	possibly damaging	Het
Mycbp2	T	G	14: 103,532,664 (GRCm39)	N430T	probably benign	Het
Myo1e	A	G	9: 70,283,887 (GRCm39)	Y861C	probably damaging	Het
Nav2	A	G	7: 49,213,851 (GRCm39)	T1622A	probably damaging	Het
Nom1	A	T	5: 29,654,617 (GRCm39)	H773L	possibly damaging	Het
Npc2	G	T	12: 84,803,919 (GRCm39)	P144Q	probably damaging	Het
Npnt	A	G	3: 132,655,774 (GRCm39)		probably benign	Het
Nxpe4	A	T	9: 48,304,678 (GRCm39)	Y255F	probably benign	Het
Obscn	G	A	11: 58,958,474 (GRCm39)	A3769V	possibly damaging	Het
Optc	T	C	1: 133,832,737 (GRCm39)	D121G	probably damaging	Het
Pard6a	T	C	8: 106,428,866 (GRCm39)	F26L	probably damaging	Het
Pcdhga4	T	A	18: 37,819,762 (GRCm39)	I437N	probably damaging	Het
Phf12	G	T	11: 77,914,417 (GRCm39)	V71F	probably damaging	Het
Phf21b	T	A	15: 84,679,317 (GRCm39)	S282C	probably damaging	Het
Pou5f1	T	C	17: 35,821,357 (GRCm39)	F323S	possibly damaging	Het
Pyroxd1	A	G	6: 142,303,182 (GRCm39)	K273R	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rpusd1	A	T	17: 25,949,352 (GRCm39)	H174L	probably damaging	Het
Ryr2	T	C	13: 11,910,106 (GRCm39)	K94R	probably benign	Het
Scn2b	A	G	9: 45,029,328 (GRCm39)	R3G	probably benign	Het
Sf3b2	A	T	19: 5,325,126 (GRCm39)	M782K	possibly damaging	Het
Skint7	A	G	4: 111,842,073 (GRCm39)		probably null	Het
Slc43a1	A	G	2: 84,687,184 (GRCm39)	I319V	possibly damaging	Het
Snupn	T	A	9: 56,890,247 (GRCm39)	M356K	probably damaging	Het
Spata31d1a	C	A	13: 59,848,378 (GRCm39)	R1250M	probably damaging	Het
Sprr2h	T	C	3: 92,294,216 (GRCm39)	V21A	unknown	Het
Srpra	A	G	9: 35,127,291 (GRCm39)	T614A	possibly damaging	Het
Stk36	A	T	1: 74,650,591 (GRCm39)	Q327L	probably benign	Het
Syne3	A	G	12: 104,909,622 (GRCm39)	I738T	probably benign	Het
Tcea3	A	T	4: 135,975,360 (GRCm39)	M1L	probably damaging	Het
Tead2	G	T	7: 44,867,526 (GRCm39)	R85L	probably damaging	Het
Thap7	T	C	16: 17,346,300 (GRCm39)	N228D	possibly damaging	Het
Trip11	T	A	12: 101,865,154 (GRCm39)	E173V	probably damaging	Het
Ttc38	T	A	15: 85,725,698 (GRCm39)	M187K	possibly damaging	Het
Vmn1r193	T	A	13: 22,403,138 (GRCm39)	T285S	possibly damaging	Het
Vmn2r106	T	C	17: 20,488,591 (GRCm39)	T603A	probably damaging	Het
Vps39	A	T	2: 120,163,897 (GRCm39)	M355K	probably damaging	Het
Wnt5b	G	T	6: 119,423,473 (GRCm39)	L51I	probably damaging	Het
Xxylt1	A	G	16: 30,826,626 (GRCm39)	Y230H	probably benign	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
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
R9218:Psmd5	UTSW	2	34,747,794 (GRCm39)	missense	probably benign	0.12
R9457:Psmd5	UTSW	2	34,744,338 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TACAGGTTGATCTCGTGAGC -3'
(R):5'- CAAAGAGTTTAGTGCAGAGATACAC -3'

Sequencing Primer
(F):5'- TTGATCTCGTGAGCTCGCACAG -3'
(R):5'- TTGTTGTCTCCAGCCTGA -3'

Posted On

2018-02-27