Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02265:Psmd13'

286873

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Psmd13

Ensembl Gene

ENSMUSG00000025487

Gene Name

proteasome (prosome, macropain) 26S subunit, non-ATPase, 13

Synonyms

26S proteasome subunit p40.5, S11

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

IGL02265

Quality Score

Status

Chromosome

Chromosomal Location

140462307-140478555 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 140462431 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 16 (P16L)

Ref Sequence

ENSEMBL: ENSMUSP00000026560 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026559] [ENSMUST00000026560] [ENSMUST00000106048] [ENSMUST00000137024] [ENSMUST00000137710] [ENSMUST00000164681] [ENSMUST00000163610] [ENSMUST00000166889] [ENSMUST00000210296] [ENSMUST00000211179] [ENSMUST00000147331]

AlphaFold

Q9WVJ2

Predicted Effect

probably benign
Transcript: ENSMUST00000026559

SMART Domains

Protein: ENSMUSP00000026559
Gene: ENSMUSG00000025486

Domain	Start	End	E-Value	Type
Pfam:SIR2	3	184	5.3e-57	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000026560
AA Change: P16L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000026560
Gene: ENSMUSG00000025487
AA Change: P16L

Domain	Start	End	E-Value	Type
low complexity region	9	14	N/A	INTRINSIC
PINT	263	356	2.26e-21	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106048

SMART Domains

Protein: ENSMUSP00000101663
Gene: ENSMUSG00000025486

Domain	Start	End	E-Value	Type
Pfam:SIR2	3	184	8.7e-57	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129683

Predicted Effect

probably benign
Transcript: ENSMUST00000137024

SMART Domains

Protein: ENSMUSP00000114247
Gene: ENSMUSG00000025486

Domain	Start	End	E-Value	Type
Pfam:SIR2	3	178	1.7e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000137710

SMART Domains

Protein: ENSMUSP00000115202
Gene: ENSMUSG00000025486

Domain	Start	End	E-Value	Type
Pfam:SIR2	3	99	1.2e-28	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140411

Predicted Effect

probably damaging
Transcript: ENSMUST00000164681
AA Change: P16L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000132405
Gene: ENSMUSG00000025487
AA Change: P16L

Domain	Start	End	E-Value	Type
low complexity region	9	14	N/A	INTRINSIC
PDB:4CR4\|O	16	184	1e-12	PDB
low complexity region	217	232	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000163610
AA Change: P16L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000130580
Gene: ENSMUSG00000025487
AA Change: P16L

Domain	Start	End	E-Value	Type
low complexity region	9	14	N/A	INTRINSIC
PDB:4CR4\|O	16	347	7e-44	PDB
Blast:PINT	245	329	9e-26	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000166889
AA Change: P16L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000126532
Gene: ENSMUSG00000025487
AA Change: P16L

Domain	Start	End	E-Value	Type
low complexity region	9	14	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210974

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146875

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210398

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151644

Predicted Effect

probably benign
Transcript: ENSMUST00000210296

Predicted Effect

probably benign
Transcript: ENSMUST00000211179

Predicted Effect

probably benign
Transcript: ENSMUST00000147331

SMART Domains

Protein: ENSMUSP00000121151
Gene: ENSMUSG00000025486

Domain	Start	End	E-Value	Type
low complexity region	16	36	N/A	INTRINSIC
low complexity region	43	54	N/A	INTRINSIC
Pfam:SIR2	80	258	1.9e-54	PFAM

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 a non-ATPase subunit of the 19S regulator. Two transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Eef1d	G	T	15: 75,775,283 (GRCm39)	D125E	probably benign	Het
Faap24	T	C	7: 35,095,689 (GRCm39)	I19V	probably benign	Het
Faf1	T	A	4: 109,600,101 (GRCm39)	S165R	probably benign	Het
Fry	A	G	5: 150,360,618 (GRCm39)	E75G	probably damaging	Het
Hyal1	A	G	9: 107,455,107 (GRCm39)	Q139R	probably benign	Het
Mapk13	T	C	17: 28,996,692 (GRCm39)		probably benign	Het
N4bp3	G	T	11: 51,534,645 (GRCm39)	Q473K	probably benign	Het
Oprk1	A	G	1: 5,672,871 (GRCm39)	N336S	probably damaging	Het
Or10ag58	G	A	2: 87,265,688 (GRCm39)	V286I	probably benign	Het
P4ha3	T	G	7: 99,943,139 (GRCm39)	F175V	probably benign	Het
Rbm24	A	G	13: 46,573,826 (GRCm39)	N82D	possibly damaging	Het
Rtkn	G	A	6: 83,124,523 (GRCm39)	C122Y	probably damaging	Het
Serpini1	T	C	3: 75,526,576 (GRCm39)	I276T	probably damaging	Het
Vmn2r73	A	C	7: 85,520,847 (GRCm39)	F374V	probably benign	Het
Wasf1	A	G	10: 40,812,437 (GRCm39)	T409A	unknown	Het
Xirp2	A	T	2: 67,347,494 (GRCm39)	Q3245L	possibly damaging	Het

Other mutations in Psmd13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00233:Psmd13	APN	7	140,477,534 (GRCm39)	missense	probably damaging	0.97
R0326:Psmd13	UTSW	7	140,477,624 (GRCm39)	missense	probably damaging	1.00
R1163:Psmd13	UTSW	7	140,477,367 (GRCm39)	missense	probably damaging	0.97
R1667:Psmd13	UTSW	7	140,470,522 (GRCm39)	missense	probably damaging	1.00
R1721:Psmd13	UTSW	7	140,463,430 (GRCm39)	missense	probably damaging	1.00
R1867:Psmd13	UTSW	7	140,463,430 (GRCm39)	missense	probably damaging	1.00
R1993:Psmd13	UTSW	7	140,478,107 (GRCm39)	missense	probably damaging	1.00
R2070:Psmd13	UTSW	7	140,477,561 (GRCm39)	missense	probably damaging	0.99
R2844:Psmd13	UTSW	7	140,477,653 (GRCm39)	intron	probably benign
R2845:Psmd13	UTSW	7	140,477,653 (GRCm39)	intron	probably benign
R2846:Psmd13	UTSW	7	140,477,653 (GRCm39)	intron	probably benign
R2869:Psmd13	UTSW	7	140,466,968 (GRCm39)	missense	probably damaging	0.99
R2869:Psmd13	UTSW	7	140,466,968 (GRCm39)	missense	probably damaging	0.99
R2871:Psmd13	UTSW	7	140,466,968 (GRCm39)	missense	probably damaging	0.99
R2871:Psmd13	UTSW	7	140,466,968 (GRCm39)	missense	probably damaging	0.99
R4358:Psmd13	UTSW	7	140,469,418 (GRCm39)	intron	probably benign
R4973:Psmd13	UTSW	7	140,466,766 (GRCm39)	nonsense	probably null
R5197:Psmd13	UTSW	7	140,474,374 (GRCm39)	splice site	probably null
R6700:Psmd13	UTSW	7	140,470,522 (GRCm39)	missense	probably damaging	1.00
R8239:Psmd13	UTSW	7	140,466,450 (GRCm39)	missense	probably damaging	1.00
R8798:Psmd13	UTSW	7	140,477,663 (GRCm39)	nonsense	probably null
R9516:Psmd13	UTSW	7	140,478,455 (GRCm39)	missense
Z1176:Psmd13	UTSW	7	140,462,339 (GRCm39)	unclassified	probably benign

Posted On

2015-04-16