Mutagenetix > Incidental Mutation

Incidental Mutation 'R1078:Psme1'

85751

Institutional Source

Beutler Lab

Gene Symbol

Psme1

Ensembl Gene

ENSMUSG00000022216

Gene Name

proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)

Synonyms

PA28a

MMRRC Submission

039164-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1078 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55578123-55581529 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 55580650 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 149 (G149V)

Ref Sequence

ENSEMBL: ENSMUSP00000133883 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022826] [ENSMUST00000022828] [ENSMUST00000089619] [ENSMUST00000172738] [ENSMUST00000174259] [ENSMUST00000174563] [ENSMUST00000174484]

AlphaFold

P97371

Predicted Effect

probably benign
Transcript: ENSMUST00000022826

SMART Domains

Protein: ENSMUSP00000022826
Gene: ENSMUSG00000022215

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
transmembrane domain	58	80	N/A	INTRINSIC
transmembrane domain	95	114	N/A	INTRINSIC
low complexity region	127	141	N/A	INTRINSIC
transmembrane domain	189	211	N/A	INTRINSIC
transmembrane domain	221	243	N/A	INTRINSIC
transmembrane domain	250	272	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000022828

SMART Domains

Protein: ENSMUSP00000022828
Gene: ENSMUSG00000022217

Domain	Start	End	E-Value	Type
Pfam:UPF0172	3	191	1.9e-59	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000089619
AA Change: G149V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000087046
Gene: ENSMUSG00000022216
AA Change: G149V

Domain	Start	End	E-Value	Type
Pfam:PA28_alpha	6	69	4.1e-29	PFAM
low complexity region	70	98	N/A	INTRINSIC
Pfam:PA28_beta	100	236	2.4e-59	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135068

Predicted Effect

probably benign
Transcript: ENSMUST00000172738

SMART Domains

Protein: ENSMUSP00000133867
Gene: ENSMUSG00000022216

Domain	Start	End	E-Value	Type
Pfam:PA28_alpha	6	69	3.8e-29	PFAM
low complexity region	70	98	N/A	INTRINSIC
Pfam:PA28_beta	129	226	3.2e-43	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172941

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173113

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173169

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173388

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173544

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174148

Predicted Effect

probably damaging
Transcript: ENSMUST00000174259
AA Change: G149V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134735
Gene: ENSMUSG00000022216
AA Change: G149V

Domain	Start	End	E-Value	Type
Pfam:PA28_alpha	8	68	6e-27	PFAM
low complexity region	70	98	N/A	INTRINSIC
Pfam:PA28_beta	103	247	9.5e-64	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000174563
AA Change: G138V

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

SMART Domains

Protein: ENSMUSP00000133366
Gene: ENSMUSG00000022216
AA Change: G138V

Domain	Start	End	E-Value	Type
Pfam:PA28_alpha	6	58	7.5e-18	PFAM
low complexity region	59	87	N/A	INTRINSIC
Pfam:PA28_beta	89	173	5.4e-37	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000174484
AA Change: G149V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133883
Gene: ENSMUSG00000022216
AA Change: G149V

Domain	Start	End	E-Value	Type
Pfam:PA28_alpha	6	69	4.4e-29	PFAM
low complexity region	70	98	N/A	INTRINSIC
Pfam:PA28_beta	100	238	7.7e-67	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174791

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174618

Predicted Effect

probably benign
Transcript: ENSMUST00000174352

SMART Domains

Protein: ENSMUSP00000133463
Gene: ENSMUSG00000022217

Domain	Start	End	E-Value	Type
Pfam:UPF0172	1	43	6.3e-11	PFAM
Pfam:UPF0172	41	82	1.2e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228834

Predicted Effect

probably benign
Transcript: ENSMUST00000174419

Meta Mutation Damage Score

0.9681

Coding Region Coverage

1x: 99.7%
3x: 99.1%
10x: 97.4%
20x: 94.4%

Validation Efficiency

96% (53/55)

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. The immunoproteasome contains an alternate regulator, referred to as the 11S regulator or PA28, that replaces the 19S regulator. Three subunits (alpha, beta and gamma) of the 11S regulator have been identified. This gene encodes the alpha subunit of the 11S regulator, one of the two 11S subunits that is induced by gamma-interferon. Three alpha and three beta subunits combine to form a heterohexameric ring. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	C	11: 23,611,762	I358S	probably benign	Het
9130230L23Rik	T	C	5: 65,988,355	T138A	unknown	Het
Abi3bp	T	C	16: 56,654,081		probably null	Het
Alpk3	A	T	7: 81,078,600	M493L	probably benign	Het
Bace2	C	T	16: 97,356,860	A20V	unknown	Het
Bms1	T	C	6: 118,405,221	D452G	probably benign	Het
Ccdc187	T	C	2: 26,294,377	T3A	probably damaging	Het
Ctu2	T	C	8: 122,481,499	V95A	possibly damaging	Het
Cyp2a5	A	G	7: 26,835,541	K60E	probably benign	Het
Cyp4f13	T	C	17: 32,925,568	H318R	probably damaging	Het
Dlgap5	G	A	14: 47,399,566	T485M	probably damaging	Het
Dsp	C	T	13: 38,183,106		probably benign	Het
Ell2	T	C	13: 75,746,419		probably benign	Het
Eml2	A	T	7: 19,179,762	Y168F	probably benign	Het
Ep400	C	T	5: 110,735,522		probably benign	Het
Ercc4	C	A	16: 13,130,197	A336D	probably benign	Het
Fam189a2	T	A	19: 23,973,575	R547S	probably benign	Het
Fat4	T	C	3: 38,983,086	L3629S	probably benign	Het
Gabbr2	C	T	4: 46,664,833	R925H	probably damaging	Het
Gfi1b	A	T	2: 28,613,865	W108R	probably damaging	Het
Gtse1	C	T	15: 85,862,307	P108L	probably damaging	Het
Hfm1	A	T	5: 106,878,830	F140I	probably damaging	Het
Hyal2	T	A	9: 107,572,246	H400Q	probably benign	Het
Igfn1	A	G	1: 135,974,847	Y371H	probably damaging	Het
Iltifb	T	G	10: 118,290,151	*180C	probably null	Het
Kdm2b	T	C	5: 122,961,541	T118A	possibly damaging	Het
Lama5	A	T	2: 180,179,764		probably benign	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Lmo7	C	T	14: 101,920,474		probably benign	Het
Lrrc37a	G	T	11: 103,497,631	P2323T	unknown	Het
Lrrc38	A	G	4: 143,350,518	Y117C	probably benign	Het
Myo1e	T	C	9: 70,383,999	V1024A	probably benign	Het
Myrfl	T	C	10: 116,776,732	N904S	possibly damaging	Het
Olfr1015	T	C	2: 85,786,093	V194A	possibly damaging	Het
Olfr103	T	A	17: 37,337,026	I69F	probably damaging	Het
Olfr1297	T	C	2: 111,621,345	H243R	probably damaging	Het
Pld4	A	T	12: 112,763,442	I53F	probably benign	Het
Plekhg4	T	A	8: 105,381,677	C1117*	probably null	Het
Prss39	G	A	1: 34,502,086	E224K	probably benign	Het
Soat2	T	A	15: 102,153,138		probably null	Het
Stab2	C	T	10: 86,907,133		probably null	Het
Tcf7l2	A	G	19: 55,743,195	T127A	probably benign	Het
Tcp1	T	C	17: 12,923,204		probably benign	Het
Thbs4	G	A	13: 92,762,926		probably benign	Het
Tmf1	T	C	6: 97,173,300	D482G	probably damaging	Het
Trim66	G	T	7: 109,472,319	P591H	probably damaging	Het
Umodl1	T	C	17: 30,959,373	S108P	probably benign	Het
Unc79	T	G	12: 103,074,853	M715R	probably benign	Het
Usp34	C	A	11: 23,433,175		probably benign	Het
Utrn	T	G	10: 12,455,566		probably null	Het
Zfp830	T	C	11: 82,765,339		probably null	Het

Other mutations in Psme1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02532:Psme1	APN	14	55581138	nonsense	probably null
IGL02867:Psme1	APN	14	55579926	splice site	probably benign
IGL02889:Psme1	APN	14	55579926	splice site	probably benign
IGL03257:Psme1	APN	14	55580629	missense	probably damaging	1.00
R0491:Psme1	UTSW	14	55579921	splice site	probably benign
R1597:Psme1	UTSW	14	55580765	missense	probably damaging	1.00
R7620:Psme1	UTSW	14	55580340	nonsense	probably null
R8050:Psme1	UTSW	14	55579599	missense	possibly damaging	0.86
R8903:Psme1	UTSW	14	55580396	missense
R9022:Psme1	UTSW	14	55579814	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACTTCGCACGCCCAGTCATTC -3'
(R):5'- TGTTGTGATGAGGCCACTCACTTG -3'

Sequencing Primer
(F):5'- TGTCACTGAGCAACTCAATCTGG -3'
(R):5'- ACTCACTTGGAGATCTGCG -3'

Posted On

2013-11-18