Mutagenetix > Incidental Mutation

Incidental Mutation 'R7993:Psmc1'

651890

Institutional Source

Beutler Lab

Gene Symbol

Psmc1

Ensembl Gene

ENSMUSG00000021178

Gene Name

protease (prosome, macropain) 26S subunit, ATPase 1

Synonyms

P26s4, Rpt2/S4, rpt2, S4

MMRRC Submission

046034-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7993 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100076461-100089623 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100081824 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 142 (D142G)

Ref Sequence

ENSEMBL: ENSMUSP00000021595 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021595]

AlphaFold

P62192

Predicted Effect

probably benign
Transcript: ENSMUST00000021595
AA Change: D142G

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000021595
Gene: ENSMUSG00000021178
AA Change: D142G

Domain	Start	End	E-Value	Type
low complexity region	7	24	N/A	INTRINSIC
low complexity region	27	43	N/A	INTRINSIC
AAA	218	357	1.57e-23	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (69/69)

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. This subunit and a 20S core alpha subunit interact specifically with the hepatitis B virus X protein, a protein critical to viral replication. This subunit also interacts with the adenovirus E1A protein and this interaction alters the activity of the proteasome. Finally, this subunit interacts with ataxin-7, suggesting a role for the proteasome in the development of spinocerebellar ataxia type 7, a progressive neurodegenerative disorder. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants are embryonic lethal. Conditional null in cortical neurons causes neurodegeneration and premature death in several different models. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	T	A	19: 43,803,231 (GRCm39)	V689D	possibly damaging	Het
Adamts17	T	C	7: 66,499,612 (GRCm39)	V53A	possibly damaging	Het
Adcy9	T	C	16: 4,235,866 (GRCm39)	N515S	probably damaging	Het
Aoc1l3	T	A	6: 48,964,542 (GRCm39)	N183K	possibly damaging	Het
Atp1a2	A	G	1: 172,118,878 (GRCm39)	V88A	possibly damaging	Het
Atp1a3	T	C	7: 24,700,406 (GRCm39)		probably null	Het
Baz2a	T	C	10: 127,961,491 (GRCm39)	F1706L	probably benign	Het
Cacnb2	A	C	2: 14,968,731 (GRCm39)	N199T	probably benign	Het
Caskin1	T	A	17: 24,718,279 (GRCm39)	Y296*	probably null	Het
Cemip	C	A	7: 83,613,383 (GRCm39)	G605V	probably damaging	Het
Ciart	T	A	3: 95,786,206 (GRCm39)	K290*	probably null	Het
Cideb	G	T	14: 55,995,899 (GRCm39)		probably benign	Het
Copg2	A	T	6: 30,793,097 (GRCm39)	Y413N	probably damaging	Het
Csrp1	T	A	1: 135,674,453 (GRCm39)		probably null	Het
Cyp2j8	C	T	4: 96,335,456 (GRCm39)		probably null	Het
Dcbld1	T	A	10: 52,137,884 (GRCm39)	Y49*	probably null	Het
Dpep1	T	C	8: 123,927,460 (GRCm39)	V338A	possibly damaging	Het
Exoc2	A	G	13: 31,090,713 (GRCm39)		probably null	Het
Fcho2	A	T	13: 98,888,524 (GRCm39)		probably null	Het
Foxd3	C	T	4: 99,544,841 (GRCm39)		probably benign	Het
Gabbr2	C	T	4: 46,736,349 (GRCm39)		probably null	Het
Gipc3	T	C	10: 81,173,805 (GRCm39)	D269G	probably damaging	Het
Gm4861	G	A	3: 137,256,417 (GRCm39)	T63M	probably damaging	Het
Hmga1b	C	A	11: 120,653,833 (GRCm39)	A40E	probably damaging	Het
Hydin	T	A	8: 111,306,264 (GRCm39)	M3889K	probably benign	Het
Inhca	T	A	9: 103,140,332 (GRCm39)	K462N	probably benign	Het
Klk14	T	A	7: 43,344,367 (GRCm39)	M226K	probably benign	Het
Liph	T	G	16: 21,777,562 (GRCm39)	M413L	probably benign	Het
Lrrc37a	T	C	11: 103,348,787 (GRCm39)	D2636G	unknown	Het
Lrrk1	G	A	7: 65,912,202 (GRCm39)	T1786M	probably benign	Het
Map1a	A	G	2: 121,135,057 (GRCm39)	S1958G	possibly damaging	Het
Msto1	A	G	3: 88,817,481 (GRCm39)	F484S	probably benign	Het
Muc2	C	T	7: 141,308,173 (GRCm39)	H890Y		Het
Nectin3	T	C	16: 46,279,184 (GRCm39)	I265V	probably benign	Het
Nectin4	C	T	1: 171,211,322 (GRCm39)	T282I	probably damaging	Het
Nfat5	T	A	8: 108,082,134 (GRCm39)		probably null	Het
Nsmaf	T	C	4: 6,398,647 (GRCm39)	D819G	probably benign	Het
Or8b8	A	T	9: 37,808,633 (GRCm39)		probably benign	Het
Pcdhb1	A	T	18: 37,400,044 (GRCm39)	D665V	probably damaging	Het
Pkd1l1	T	C	11: 8,895,262 (GRCm39)	D616G		Het
Plppr2	A	T	9: 21,858,258 (GRCm39)	H286L	probably damaging	Het
Polrmt	T	C	10: 79,572,085 (GRCm39)	T1203A	probably damaging	Het
Ppm1d	T	A	11: 85,217,777 (GRCm39)	V180E	probably damaging	Het
Ppp1r18	T	A	17: 36,184,718 (GRCm39)	I551N	probably benign	Het
Psg28	C	T	7: 18,160,401 (GRCm39)	C265Y	possibly damaging	Het
Rabgap1l	G	T	1: 160,528,424 (GRCm39)	A394E	probably damaging	Het
Rbm48	G	A	5: 3,640,470 (GRCm39)	P303L	probably benign	Het
Rnf167	T	C	11: 70,540,821 (GRCm39)	V185A	probably benign	Het
Ros1	T	A	10: 51,999,443 (GRCm39)	Q1169L	probably benign	Het
Rrp1b	A	G	17: 32,277,541 (GRCm39)	D607G	probably damaging	Het
Scamp1	A	G	13: 94,366,294 (GRCm39)	Y134H	probably damaging	Het
Scfd1	G	A	12: 51,492,490 (GRCm39)	E600K	probably damaging	Het
Scn3b	A	G	9: 40,193,840 (GRCm39)	E189G	possibly damaging	Het
Scn4b	G	T	9: 45,059,007 (GRCm39)	V93L	probably benign	Het
Serpina3i	A	T	12: 104,231,407 (GRCm39)	T15S	possibly damaging	Het
Slc2a13	A	T	15: 91,296,356 (GRCm39)	C319*	probably null	Het
Tdrd1	A	G	19: 56,854,437 (GRCm39)		probably null	Het
Tep1	T	A	14: 51,067,710 (GRCm39)	I2169F	probably benign	Het
Tm4sf19	A	G	16: 32,226,458 (GRCm39)	D124G	possibly damaging	Het
Trim2	T	C	3: 84,098,026 (GRCm39)	Y434C	probably damaging	Het
Usp34	T	A	11: 23,327,622 (GRCm39)	S1056T		Het
Vmn1r230	T	A	17: 21,067,312 (GRCm39)	M167K	probably benign	Het
Vmn2r14	T	A	5: 109,363,862 (GRCm39)	M685L	probably benign	Het
Zfhx4	T	A	3: 5,478,047 (GRCm39)	V3554D	probably damaging	Het
Zfp1010	C	T	2: 176,957,015 (GRCm39)	G161D	probably damaging	Het
Zfp458	A	G	13: 67,405,234 (GRCm39)	S402P	probably damaging	Het
Zfp462	C	A	4: 55,011,907 (GRCm39)	A1291E	probably damaging	Het
Zmat5	G	A	11: 4,672,379 (GRCm39)		probably benign	Het
Znfx1	C	A	2: 166,897,857 (GRCm39)	E356*	probably null	Het
Zswim5	A	G	4: 116,808,291 (GRCm39)	T292A	probably benign	Het

Other mutations in Psmc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01700:Psmc1	APN	12	100,079,337 (GRCm39)	missense	probably damaging	1.00
IGL02445:Psmc1	APN	12	100,081,087 (GRCm39)	splice site	probably benign
IGL02605:Psmc1	APN	12	100,085,386 (GRCm39)	missense	probably damaging	1.00
R0018:Psmc1	UTSW	12	100,082,951 (GRCm39)	splice site	probably benign
R0018:Psmc1	UTSW	12	100,082,951 (GRCm39)	splice site	probably benign
R0427:Psmc1	UTSW	12	100,085,487 (GRCm39)	missense	probably damaging	0.96
R0534:Psmc1	UTSW	12	100,086,389 (GRCm39)	missense	possibly damaging	0.79
R0931:Psmc1	UTSW	12	100,085,341 (GRCm39)	missense	probably damaging	0.99
R1937:Psmc1	UTSW	12	100,081,102 (GRCm39)	missense	probably benign	0.26
R2405:Psmc1	UTSW	12	100,086,362 (GRCm39)	missense	probably benign	0.03
R5063:Psmc1	UTSW	12	100,081,734 (GRCm39)	missense	probably damaging	0.97
R5293:Psmc1	UTSW	12	100,081,731 (GRCm39)	missense	probably benign	0.11
R5346:Psmc1	UTSW	12	100,086,359 (GRCm39)	missense	probably damaging	0.99
R5542:Psmc1	UTSW	12	100,086,399 (GRCm39)	critical splice donor site	probably null
R7513:Psmc1	UTSW	12	100,081,773 (GRCm39)	missense	probably benign	0.19
R8489:Psmc1	UTSW	12	100,089,356 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGCCTTGTCATTCCAGGCAG -3'
(R):5'- CTAGGGCAAGCAATTCCAGTTTC -3'

Sequencing Primer
(F):5'- TGTCATTCCAGGCAGATACTC -3'
(R):5'- GGCAAGCAATTCCAGTTTCTTTCC -3'

Posted On

2020-09-15