Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02061:Psmb10'

185399

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Psmb10

Ensembl Gene

ENSMUSG00000031897

Gene Name

proteasome (prosome, macropain) subunit, beta type 10

Synonyms

Mecl-1, Mecl1

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.341) question?

Stock #

IGL02061

Quality Score

Status

Chromosome

Chromosomal Location

106662360-106665024 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106664343 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 38 (T38A)

Ref Sequence

ENSEMBL: ENSMUSP00000034369 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034368] [ENSMUST00000034369] [ENSMUST00000038896]

AlphaFold

O35955

PDB Structure

Mouse 20S immunoproteasome in complex with PR-957 [X-RAY DIFFRACTION]
Mouse 20S immunoproteasome [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000034368

SMART Domains

Protein: ENSMUSP00000034368
Gene: ENSMUSG00000031896

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Tryp_SPc	33	257	1.41e-92	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000034369
AA Change: T38A

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

SMART Domains

Protein: ENSMUSP00000034369
Gene: ENSMUSG00000031897
AA Change: T38A

Domain	Start	End	E-Value	Type
Pfam:Proteasome	36	217	3.9e-49	PFAM
Pfam:Pr_beta_C	231	267	3.8e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000038896

SMART Domains

Protein: ENSMUSP00000038232
Gene: ENSMUSG00000035237

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:LCAT	81	414	1.7e-111	PFAM
low complexity region	425	437	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141168

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212044

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212332

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212561

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212876

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212595

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212686

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212938

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure 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. 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 member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. Proteolytic processing is required to generate a mature subunit. Expression of this gene is induced by gamma interferon, and this gene product replaces catalytic subunit 2 (proteasome beta 7 subunit) in the immunoproteasome. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mice have a reduced number of splenic CD8 T cells with defects in proliferation and an altered T cell receptor repertoire to viral antigens. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arl15	T	A	13: 113,931,193 (GRCm39)	D3E	probably benign	Het
Atp4a	A	G	7: 30,414,454 (GRCm39)	Y159C	probably damaging	Het
Card10	A	G	15: 78,662,415 (GRCm39)	F861S	probably damaging	Het
Ccdc85c	A	G	12: 108,188,002 (GRCm39)	V279A	probably damaging	Het
Cndp1	G	A	18: 84,652,751 (GRCm39)	R136W	probably damaging	Het
Eif2b3	A	G	4: 116,885,608 (GRCm39)	E50G	possibly damaging	Het
Entrep3	C	T	3: 89,095,903 (GRCm39)	R545*	probably null	Het
Eva1c	C	T	16: 90,663,163 (GRCm39)	Q67*	probably null	Het
Exoc1	A	G	5: 76,689,967 (GRCm39)	E169G	probably damaging	Het
Fsd2	T	A	7: 81,190,172 (GRCm39)	K537*	probably null	Het
Gbf1	T	G	19: 46,267,697 (GRCm39)	S1236A	possibly damaging	Het
Gpt	C	A	15: 76,583,617 (GRCm39)		probably benign	Het
Gsap	A	G	5: 21,486,609 (GRCm39)		probably benign	Het
Hdac6	A	C	X: 7,809,878 (GRCm39)		probably null	Het
Ivns1abp	T	A	1: 151,227,324 (GRCm39)	L44Q	probably damaging	Het
Kcnt1	T	A	2: 25,790,494 (GRCm39)		probably null	Het
Kdm2b	A	G	5: 123,021,404 (GRCm39)	I58T	probably damaging	Het
Mrpl23	C	T	7: 142,094,319 (GRCm39)	P76S	probably benign	Het
Nbea	A	G	3: 55,625,308 (GRCm39)	I2261T	possibly damaging	Het
Oasl1	G	A	5: 115,061,651 (GRCm39)	V61M	probably damaging	Het
Or4g7	T	A	2: 111,309,614 (GRCm39)	F162I	possibly damaging	Het
Pabpc2	A	G	18: 39,908,046 (GRCm39)	Q437R	probably benign	Het
Ppp1r26	T	A	2: 28,340,639 (GRCm39)	C90S	possibly damaging	Het
Ppp3ca	A	G	3: 136,503,624 (GRCm39)	T66A	probably benign	Het
Prss55	A	G	14: 64,313,192 (GRCm39)	Y231H	possibly damaging	Het
Rfx5	A	G	3: 94,865,792 (GRCm39)	T364A	probably benign	Het
Scgb2b26	T	C	7: 33,642,610 (GRCm39)	N107S	probably benign	Het
Seh1l	A	G	18: 67,920,328 (GRCm39)		probably benign	Het
Skic3	T	A	13: 76,277,660 (GRCm39)		probably null	Het
Sod1	T	A	16: 90,022,126 (GRCm39)	H111Q	probably benign	Het
Thbs2	A	T	17: 14,900,176 (GRCm39)	D592E	probably benign	Het
Tmem67	G	A	4: 12,053,526 (GRCm39)	A740V	probably damaging	Het
Tra2a	A	G	6: 49,226,032 (GRCm39)	V136A	possibly damaging	Het
Utp18	T	C	11: 93,772,967 (GRCm39)	D158G	probably benign	Het
Zfp524	A	G	7: 5,020,871 (GRCm39)	E133G	probably damaging	Het

Other mutations in Psmb10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02421:Psmb10	APN	8	106,664,124 (GRCm39)	critical splice donor site	probably null
IGL03118:Psmb10	APN	8	106,663,532 (GRCm39)	missense	probably damaging	1.00
R0506:Psmb10	UTSW	8	106,664,177 (GRCm39)	missense	possibly damaging	0.95
R2420:Psmb10	UTSW	8	106,663,934 (GRCm39)	missense	probably benign	0.20
R4496:Psmb10	UTSW	8	106,662,660 (GRCm39)	missense	probably damaging	0.98
R8421:Psmb10	UTSW	8	106,663,342 (GRCm39)	missense	probably benign	0.00
R9308:Psmb10	UTSW	8	106,662,662 (GRCm39)	missense	probably damaging	0.99
R9610:Psmb10	UTSW	8	106,664,144 (GRCm39)	missense	probably benign	0.14
R9611:Psmb10	UTSW	8	106,664,144 (GRCm39)	missense	probably benign	0.14

Posted On

2014-05-07