Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00772:Psmd1'

13705

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Psmd1

Ensembl Gene

ENSMUSG00000026229

Gene Name

proteasome (prosome, macropain) 26S subunit, non-ATPase, 1

Synonyms

P112, S1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

IGL00772

Quality Score

Status

Chromosome

Chromosomal Location

85992341-86067017 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 86017920 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122121 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027432] [ENSMUST00000139715]

AlphaFold

Q3TXS7

Predicted Effect

probably benign
Transcript: ENSMUST00000027432

SMART Domains

Protein: ENSMUSP00000027432
Gene: ENSMUSG00000026229

Domain	Start	End	E-Value	Type
Pfam:PC_rep	441	474	5.1e-9	PFAM
Pfam:PC_rep	476	510	8.4e-8	PFAM
Pfam:PC_rep	511	545	1.1e-7	PFAM
Pfam:HEAT_2	599	693	3.3e-15	PFAM
Pfam:PC_rep	651	685	1.1e-11	PFAM
low complexity region	818	828	N/A	INTRINSIC
low complexity region	837	872	N/A	INTRINSIC
low complexity region	936	949	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000104086

Predicted Effect

probably benign
Transcript: ENSMUST00000139715

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: In eukaryotic cells, most proteins in the cytosol and nucleus are degraded via the ubiquitin-proteasome pathway. The 26S proteasome is a self-compartmentalizing protease comprised of approximately 31 different subunits. It contains a barrel-shaped proteolytic core complex (the 20S proteasome), capped at one or both ends by 19S regulatory complexes, which recognize ubiquitinated proteins. Protein degradation by proteasomes is the source of most antigenic peptides presented on MHC class I molecules. This gene encodes a non-ATPase subunit of the 26S proteasome. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Als2	A	T	1: 59,209,055 (GRCm39)	C1501*	probably null	Het
Ap3b2	T	C	7: 81,121,697 (GRCm39)	E513G	probably damaging	Het
Cdh19	T	C	1: 110,876,982 (GRCm39)	D119G	probably damaging	Het
Clasp2	A	G	9: 113,735,060 (GRCm39)		probably benign	Het
Cobl	A	G	11: 12,216,985 (GRCm39)	M419T	probably benign	Het
Crygd	C	T	1: 65,101,250 (GRCm39)	R115Q	probably benign	Het
Ctu2	T	C	8: 123,203,977 (GRCm39)		probably benign	Het
Dnah2	A	C	11: 69,342,083 (GRCm39)	Y2968D	probably damaging	Het
Eme1	A	G	11: 94,536,277 (GRCm39)	L564P	probably damaging	Het
Faim	G	A	9: 98,874,218 (GRCm39)	G15R	probably damaging	Het
Folh1	A	G	7: 86,380,992 (GRCm39)	S494P	probably damaging	Het
Fras1	T	A	5: 96,783,971 (GRCm39)	I825N	probably benign	Het
Grk1	A	G	8: 13,455,349 (GRCm39)	T78A	probably benign	Het
Lipi	A	T	16: 75,347,254 (GRCm39)		probably benign	Het
Mak	A	T	13: 41,209,296 (GRCm39)		probably benign	Het
Prkd1	T	C	12: 50,430,199 (GRCm39)	E636G	probably damaging	Het
Scara5	G	A	14: 65,908,011 (GRCm39)		probably benign	Het
Skint8	A	G	4: 111,796,120 (GRCm39)	I265V	probably benign	Het
Slc48a1	A	G	15: 97,687,835 (GRCm39)	Y63C	probably damaging	Het
Slc4a2	G	T	5: 24,640,194 (GRCm39)	V598L	probably damaging	Het
Smo	A	T	6: 29,758,893 (GRCm39)	K565*	probably null	Het
Spink5	A	G	18: 44,139,487 (GRCm39)	I617V	probably benign	Het
Tmed11	T	C	5: 108,934,031 (GRCm39)	D55G	probably benign	Het
Tro	A	G	X: 149,438,321 (GRCm39)	V112A	probably benign	Het
Utrn	G	A	10: 12,524,929 (GRCm39)	R2185C	probably benign	Het

Other mutations in Psmd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02410:Psmd1	APN	1	86,005,159 (GRCm39)	missense	probably damaging	0.97
IGL02455:Psmd1	APN	1	86,006,302 (GRCm39)	missense	probably damaging	0.97
IGL03015:Psmd1	APN	1	86,055,914 (GRCm39)	missense	probably damaging	0.97
IGL03100:Psmd1	APN	1	86,046,243 (GRCm39)	missense	possibly damaging	0.68
Neutralized	UTSW	1	86,012,914 (GRCm39)	missense	probably damaging	0.98
Rickety	UTSW	1	85,998,350 (GRCm39)	critical splice donor site	probably null
PIT4480001:Psmd1	UTSW	1	86,055,960 (GRCm39)	missense	probably damaging	0.99
R0027:Psmd1	UTSW	1	86,021,987 (GRCm39)	splice site	probably benign
R0115:Psmd1	UTSW	1	86,010,993 (GRCm39)	missense	possibly damaging	0.89
R0201:Psmd1	UTSW	1	86,046,338 (GRCm39)	missense	probably benign	0.11
R0206:Psmd1	UTSW	1	86,061,463 (GRCm39)	missense	possibly damaging	0.94
R0208:Psmd1	UTSW	1	86,061,463 (GRCm39)	missense	possibly damaging	0.94
R0255:Psmd1	UTSW	1	86,006,304 (GRCm39)	missense	probably damaging	1.00
R0486:Psmd1	UTSW	1	86,022,012 (GRCm39)	missense	probably damaging	0.99
R0675:Psmd1	UTSW	1	86,009,761 (GRCm39)	missense	probably benign	0.03
R0790:Psmd1	UTSW	1	86,005,172 (GRCm39)	missense	possibly damaging	0.94
R1565:Psmd1	UTSW	1	86,019,719 (GRCm39)	splice site	probably benign
R1721:Psmd1	UTSW	1	85,999,567 (GRCm39)	missense	probably damaging	0.99
R2010:Psmd1	UTSW	1	86,003,719 (GRCm39)	missense	probably damaging	0.96
R2098:Psmd1	UTSW	1	86,009,823 (GRCm39)	splice site	probably null
R2118:Psmd1	UTSW	1	86,006,422 (GRCm39)	missense	possibly damaging	0.94
R2119:Psmd1	UTSW	1	86,006,422 (GRCm39)	missense	possibly damaging	0.94
R2120:Psmd1	UTSW	1	86,006,422 (GRCm39)	missense	possibly damaging	0.94
R2122:Psmd1	UTSW	1	86,006,422 (GRCm39)	missense	possibly damaging	0.94
R2504:Psmd1	UTSW	1	86,017,719 (GRCm39)	missense	possibly damaging	0.91
R3810:Psmd1	UTSW	1	86,060,437 (GRCm39)	missense	probably damaging	0.99
R3811:Psmd1	UTSW	1	86,060,437 (GRCm39)	missense	probably damaging	0.99
R3978:Psmd1	UTSW	1	86,055,909 (GRCm39)	missense	probably benign	0.05
R4131:Psmd1	UTSW	1	86,006,422 (GRCm39)	missense	probably damaging	0.98
R4360:Psmd1	UTSW	1	86,061,459 (GRCm39)	missense	probably damaging	0.97
R4386:Psmd1	UTSW	1	86,055,914 (GRCm39)	missense	possibly damaging	0.93
R4402:Psmd1	UTSW	1	86,003,673 (GRCm39)	missense	possibly damaging	0.59
R4591:Psmd1	UTSW	1	86,055,926 (GRCm39)	missense	probably benign	0.05
R4783:Psmd1	UTSW	1	86,006,434 (GRCm39)	missense	probably damaging	0.97
R4824:Psmd1	UTSW	1	86,064,820 (GRCm39)	missense	probably benign	0.08
R4937:Psmd1	UTSW	1	86,010,947 (GRCm39)	missense	probably damaging	0.98
R5443:Psmd1	UTSW	1	86,017,905 (GRCm39)	missense	probably damaging	0.99
R5486:Psmd1	UTSW	1	86,064,772 (GRCm39)	missense	possibly damaging	0.59
R5979:Psmd1	UTSW	1	86,017,775 (GRCm39)	missense	possibly damaging	0.92
R6033:Psmd1	UTSW	1	86,064,817 (GRCm39)	missense	probably damaging	1.00
R6425:Psmd1	UTSW	1	85,998,350 (GRCm39)	critical splice donor site	probably null
R7467:Psmd1	UTSW	1	86,044,355 (GRCm39)	missense	probably damaging	0.99
R8257:Psmd1	UTSW	1	86,006,345 (GRCm39)	missense	probably damaging	0.99
R8390:Psmd1	UTSW	1	86,006,329 (GRCm39)	missense	possibly damaging	0.59
R8750:Psmd1	UTSW	1	86,016,585 (GRCm39)	missense	probably damaging	0.99
R8890:Psmd1	UTSW	1	86,012,914 (GRCm39)	missense	probably damaging	0.98
R9017:Psmd1	UTSW	1	86,054,231 (GRCm39)	missense	probably damaging	0.99
R9142:Psmd1	UTSW	1	86,064,817 (GRCm39)	missense	probably damaging	1.00
R9330:Psmd1	UTSW	1	86,061,490 (GRCm39)	missense	probably damaging	1.00
R9799:Psmd1	UTSW	1	86,054,236 (GRCm39)	missense	possibly damaging	0.77
Z1177:Psmd1	UTSW	1	86,010,890 (GRCm39)	missense	probably benign	0.03

Posted On

2012-12-06