Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02508:Psmc5'

296420

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Psmc5

Ensembl Gene

ENSMUSG00000020708

Gene Name

protease (prosome, macropain) 26S subunit, ATPase 5

Synonyms

mSUG1, Rpt6

Accession Numbers

Essential gene?

Probably essential (E-score: 0.971) question?

Stock #

IGL02508

Quality Score

Status

Chromosome

Chromosomal Location

106147011-106153938 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106153869 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 401 (I401T)

Ref Sequence

ENSEMBL: ENSMUSP00000021049 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021049] [ENSMUST00000021052] [ENSMUST00000106843] [ENSMUST00000133131] [ENSMUST00000140255]

AlphaFold

P62196

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021049
AA Change: I401T

PolyPhen 2 Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000021049
Gene: ENSMUSG00000020708
AA Change: I401T

Domain	Start	End	E-Value	Type
low complexity region	57	69	N/A	INTRINSIC
low complexity region	96	108	N/A	INTRINSIC
AAA	182	321	6.96e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000021052

SMART Domains

Protein: ENSMUSP00000021052
Gene: ENSMUSG00000078619

Domain	Start	End	E-Value	Type
low complexity region	5	42	N/A	INTRINSIC
low complexity region	44	58	N/A	INTRINSIC
low complexity region	122	131	N/A	INTRINSIC
Blast:KISc	136	287	2e-36	BLAST
SWIB	307	386	1.3e-21	SMART
Blast:MYSc	468	514	5e-11	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083228

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000106841

Predicted Effect

probably benign
Transcript: ENSMUST00000106843

SMART Domains

Protein: ENSMUSP00000102456
Gene: ENSMUSG00000078619

Domain	Start	End	E-Value	Type
low complexity region	75	84	N/A	INTRINSIC
Blast:KISc	89	240	1e-36	BLAST
SWIB	260	339	1.3e-21	SMART
Blast:MYSc	421	467	5e-11	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132278

Predicted Effect

probably benign
Transcript: ENSMUST00000133131

SMART Domains

Protein: ENSMUSP00000138057
Gene: ENSMUSG00000020708

Domain	Start	End	E-Value	Type
low complexity region	57	69	N/A	INTRINSIC
low complexity region	96	108	N/A	INTRINSIC
AAA	182	321	6.96e-25	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155243

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174253

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174017

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155514

Predicted Effect

probably benign
Transcript: ENSMUST00000140255

SMART Domains

Protein: ENSMUSP00000133629
Gene: ENSMUSG00000078619

Domain	Start	End	E-Value	Type
SWIB	29	108	1.3e-21	SMART
Blast:MYSc	190	236	6e-12	BLAST

Coding Region Coverage

Validation Efficiency

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. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. In addition to participation in proteasome functions, this subunit may participate in transcriptional regulation since it has been shown to interact with the thyroid hormone receptor and retinoid X receptor-alpha. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
PHENOTYPE: Mice homozygous for a phospho-mimetic allele exhibit absence of cocaine locomotor activity sensitization. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061I17Rik	T	A	3: 116,870,764 (GRCm39)		noncoding transcript	Het
Adgrv1	A	T	13: 81,583,675 (GRCm39)		probably benign	Het
AI429214	T	G	8: 37,461,240 (GRCm39)	D129E	probably benign	Het
Alx1	G	A	10: 102,858,054 (GRCm39)	T215M	probably damaging	Het
Arhgap39	A	G	15: 76,609,184 (GRCm39)	*1079Q	probably null	Het
Brca2	T	C	5: 150,466,773 (GRCm39)	V2179A	possibly damaging	Het
Cdcp3	A	G	7: 130,824,559 (GRCm39)	E91G	probably damaging	Het
Celsr1	G	A	15: 85,914,818 (GRCm39)	Q1052*	probably null	Het
Chd5	A	G	4: 152,447,481 (GRCm39)	E510G	probably damaging	Het
Cntnap2	A	G	6: 46,211,254 (GRCm39)	D556G	probably damaging	Het
Cux2	G	A	5: 121,998,885 (GRCm39)	P1352S	possibly damaging	Het
Cyp4a31	A	T	4: 115,428,261 (GRCm39)	Y319F	probably damaging	Het
Dcaf12	C	T	4: 41,296,310 (GRCm39)		probably null	Het
Dcc	C	A	18: 71,503,773 (GRCm39)	A942S	probably benign	Het
Dyrk1a	A	T	16: 94,486,042 (GRCm39)	D463V	probably damaging	Het
Eln	T	A	5: 134,733,422 (GRCm39)		probably benign	Het
Fbxl13	A	G	5: 21,761,803 (GRCm39)		probably null	Het
Fndc3b	T	C	3: 27,512,900 (GRCm39)	Y742C	probably damaging	Het
Furin	G	A	7: 80,042,269 (GRCm39)	T442I	probably benign	Het
Gli1	T	C	10: 127,172,961 (GRCm39)	Q155R	probably benign	Het
Glra3	A	G	8: 56,538,179 (GRCm39)	E218G	probably benign	Het
Grb10	C	T	11: 11,896,767 (GRCm39)	V236M	probably damaging	Het
Grhl2	T	C	15: 37,310,009 (GRCm39)		probably benign	Het
Hgfac	A	T	5: 35,204,564 (GRCm39)	M579L	probably damaging	Het
Ifi202b	A	T	1: 173,802,338 (GRCm39)	D165E	probably benign	Het
Klhl26	A	T	8: 70,905,381 (GRCm39)	D95E	probably damaging	Het
Klk12	T	C	7: 43,419,113 (GRCm39)	V26A	probably benign	Het
Lrp2	C	T	2: 69,333,774 (GRCm39)	G1489D	probably benign	Het
Lrrtm1	A	T	6: 77,221,574 (GRCm39)	S344C	probably damaging	Het
Lzts1	G	A	8: 69,593,500 (GRCm39)	R36*	probably null	Het
Mapkap1	T	C	2: 34,408,681 (GRCm39)		probably benign	Het
Meis3	T	A	7: 15,912,722 (GRCm39)		probably null	Het
Mtmr14	T	A	6: 113,217,267 (GRCm39)	C60S	probably damaging	Het
Nfkb1	T	A	3: 135,296,579 (GRCm39)	Y789F	probably damaging	Het
Nup54	G	A	5: 92,565,398 (GRCm39)	Q440*	probably null	Het
Ogdhl	T	G	14: 32,067,131 (GRCm39)	M861R	probably damaging	Het
Or13c7b	T	C	4: 43,821,289 (GRCm39)	E24G	possibly damaging	Het
Or4d10	G	T	19: 12,051,251 (GRCm39)	H248Q	possibly damaging	Het
Or4k42	C	T	2: 111,320,180 (GRCm39)	A108T	probably damaging	Het
Or52w1	A	T	7: 105,017,743 (GRCm39)	H61L	possibly damaging	Het
Or6c69b	A	G	10: 129,626,660 (GRCm39)	V266A	probably benign	Het
Pde6c	A	G	19: 38,145,948 (GRCm39)	K412R	probably benign	Het
Pex5l	T	C	3: 33,047,051 (GRCm39)		probably benign	Het
Pigr	A	T	1: 130,778,595 (GRCm39)	I760L	probably benign	Het
Pramel28	T	C	4: 143,691,590 (GRCm39)	N378D	probably benign	Het
Prr14l	G	A	5: 32,988,286 (GRCm39)	A403V	probably benign	Het
Prrt3	T	C	6: 113,471,268 (GRCm39)	D968G	probably damaging	Het
Ralyl	T	A	3: 14,172,332 (GRCm39)		probably benign	Het
Samd9l	T	C	6: 3,374,798 (GRCm39)	E821G	probably damaging	Het
Serpinb3a	T	A	1: 106,973,802 (GRCm39)	I370F	probably damaging	Het
Setd1a	A	G	7: 127,396,870 (GRCm39)		probably benign	Het
Slco2a1	T	A	9: 102,951,615 (GRCm39)	F381L	probably benign	Het
Strada	A	G	11: 106,059,182 (GRCm39)	Y199H	probably benign	Het
Stxbp2	T	C	8: 3,682,531 (GRCm39)	I40T	probably damaging	Het
Tbx3	T	C	5: 119,816,877 (GRCm39)	V358A	possibly damaging	Het
Tenm3	A	G	8: 48,752,674 (GRCm39)	L896S	probably benign	Het
Tmem132a	A	G	19: 10,835,882 (GRCm39)	S883P	probably damaging	Het
Trio	A	G	15: 27,818,190 (GRCm39)	I496T	possibly damaging	Het
Unc79	C	T	12: 103,078,535 (GRCm39)	R1548W	probably damaging	Het
Unc79	T	C	12: 103,078,277 (GRCm39)		probably benign	Het
Vmn2r9	T	C	5: 108,996,067 (GRCm39)	M194V	possibly damaging	Het

Other mutations in Psmc5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02234:Psmc5	APN	11	106,153,836 (GRCm39)	missense	probably benign	0.21
Chomp	UTSW	11	106,152,746 (GRCm39)	nonsense	probably null
R0398:Psmc5	UTSW	11	106,152,370 (GRCm39)	missense	probably benign	0.01
R0529:Psmc5	UTSW	11	106,151,990 (GRCm39)	splice site	probably null
R1642:Psmc5	UTSW	11	106,153,242 (GRCm39)	missense	probably benign	0.16
R5353:Psmc5	UTSW	11	106,152,327 (GRCm39)	missense	probably damaging	0.98
R6159:Psmc5	UTSW	11	106,152,088 (GRCm39)	missense	possibly damaging	0.82
R7647:Psmc5	UTSW	11	106,152,433 (GRCm39)	missense	possibly damaging	0.58
R7802:Psmc5	UTSW	11	106,152,538 (GRCm39)	critical splice donor site	probably null
R8757:Psmc5	UTSW	11	106,153,687 (GRCm39)	missense	probably benign	0.40
R8759:Psmc5	UTSW	11	106,153,687 (GRCm39)	missense	probably benign	0.40
R8783:Psmc5	UTSW	11	106,153,858 (GRCm39)	missense	possibly damaging	0.94
R8872:Psmc5	UTSW	11	106,152,746 (GRCm39)	nonsense	probably null
R8992:Psmc5	UTSW	11	106,152,787 (GRCm39)	missense	probably damaging	1.00
R9427:Psmc5	UTSW	11	106,153,303 (GRCm39)	missense	probably damaging	1.00
X0027:Psmc5	UTSW	11	106,153,418 (GRCm39)	missense	probably benign	0.33

Posted On

2015-04-16