Mutagenetix > Incidental Mutation

Incidental Mutation 'R6169:Psmc3'

490286

Institutional Source

Beutler Lab

Gene Symbol

Psmc3

Ensembl Gene

ENSMUSG00000002102

Gene Name

proteasome (prosome, macropain) 26S subunit, ATPase 3

Synonyms

Tat binding protein 1, TBP-1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6169 (G1)

Quality Score

166.009

Status

Validated

Chromosome

Chromosomal Location

90884361-90889783 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90888184 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 304 (F304S)

Ref Sequence

ENSEMBL: ENSMUSP00000139782 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002171] [ENSMUST00000067663] [ENSMUST00000073575] [ENSMUST00000079976] [ENSMUST00000111441] [ENSMUST00000185715]

AlphaFold

O88685

Predicted Effect

probably damaging
Transcript: ENSMUST00000002171
AA Change: F323S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000002171
Gene: ENSMUSG00000002102
AA Change: F323S

Domain	Start	End	E-Value	Type
AAA	222	361	6.65e-22	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000067663
AA Change: F323S

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

SMART Domains

Protein: ENSMUSP00000071054
Gene: ENSMUSG00000002102
AA Change: F323S

Domain	Start	End	E-Value	Type
AAA	222	361	6.65e-22	SMART
Blast:AAA	390	436	9e-20	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000073575

SMART Domains

Protein: ENSMUSP00000073263
Gene: ENSMUSG00000002105

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
Pfam:Zip	65	357	5e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000079976

SMART Domains

Protein: ENSMUSP00000078892
Gene: ENSMUSG00000002105

Domain	Start	End	E-Value	Type
Pfam:Zip	3	156	3.1e-41	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000111441
AA Change: F281S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000107068
Gene: ENSMUSG00000002102
AA Change: F281S

Domain	Start	End	E-Value	Type
AAA	180	319	6.65e-22	SMART
Blast:AAA	348	394	8e-20	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131473

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141462

Predicted Effect

probably damaging
Transcript: ENSMUST00000185715
AA Change: F304S

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

SMART Domains

Protein: ENSMUSP00000139782
Gene: ENSMUSG00000002102
AA Change: F304S

Domain	Start	End	E-Value	Type
AAA	203	301	9e-14	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151419

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152269

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146633

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145317

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144822

Predicted Effect

probably benign
Transcript: ENSMUST00000146506

SMART Domains

Protein: ENSMUSP00000121688
Gene: ENSMUSG00000002102

Domain	Start	End	E-Value	Type
PDB:4CR4\|M	13	183	2e-69	PDB
Blast:AAA	140	183	1e-20	BLAST

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

94% (67/71)

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 that have chaperone-like activity. This subunit may compete with PSMC2 for binding to the HIV tat protein to regulate the interaction between the viral protein and the transcription complex. A pseudogene has been identified on chromosome 9. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene die as embryos. [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
4930556J24Rik	C	A	11: 3,888,005 (GRCm39)	C127F	unknown	Het
9930111J21Rik2	A	T	11: 48,910,088 (GRCm39)		probably null	Het
Adamts16	A	T	13: 70,918,393 (GRCm39)	L676*	probably null	Het
Adgrv1	A	T	13: 81,567,378 (GRCm39)	V5265E	probably benign	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Akap6	T	A	12: 53,189,141 (GRCm39)	M2185K	probably benign	Het
Ankfy1	G	A	11: 72,645,285 (GRCm39)	C788Y	probably benign	Het
Ankrd50	A	G	3: 38,509,988 (GRCm39)	V793A	probably damaging	Het
Arid2	T	A	15: 96,266,558 (GRCm39)	N535K	probably benign	Het
Atrnl1	A	G	19: 57,630,895 (GRCm39)	T221A	probably benign	Het
Bbof1	C	T	12: 84,473,588 (GRCm39)	T306I	probably benign	Het
Cabs1	C	T	5: 88,127,613 (GRCm39)	T88I	possibly damaging	Het
Ccdc60	C	A	5: 116,275,131 (GRCm39)	A351S	probably benign	Het
Cetn3	A	C	13: 81,940,097 (GRCm39)	R44S	probably damaging	Het
Cluap1	A	G	16: 3,746,425 (GRCm39)	K262R	possibly damaging	Het
Cnrip1	G	A	11: 17,004,731 (GRCm39)	V94I	probably null	Het
Cog6	A	T	3: 52,914,722 (GRCm39)	S245T	probably benign	Het
Disp2	T	A	2: 118,622,031 (GRCm39)	V921D	probably damaging	Het
Entrep2	G	A	7: 64,409,147 (GRCm39)	P416S	probably benign	Het
Ep400	T	C	5: 110,889,863 (GRCm39)	K504E	possibly damaging	Het
Fbn1	T	A	2: 125,177,409 (GRCm39)		probably null	Het
Fyb2	T	C	4: 104,857,713 (GRCm39)	V630A	probably benign	Het
Gm43218	T	A	6: 70,217,606 (GRCm39)	Y50F	probably benign	Het
Gm5431	T	C	11: 48,779,402 (GRCm39)	T507A	probably benign	Het
Gucy2e	G	T	11: 69,126,930 (GRCm39)	A181E	probably benign	Het
Hrnr	C	G	3: 93,233,062 (GRCm39)	S1100*	probably null	Het
Htt	T	C	5: 35,064,817 (GRCm39)	V3010A	probably damaging	Het
Ighv1-11	T	C	12: 114,575,918 (GRCm39)	Y99C	probably damaging	Het
Ighv1-12	T	C	12: 114,579,577 (GRCm39)	K25E	possibly damaging	Het
Il6ra	A	G	3: 89,778,598 (GRCm39)	F417S	probably benign	Het
Itgb4	T	C	11: 115,885,102 (GRCm39)	S994P	probably damaging	Het
Itgbl1	G	A	14: 123,897,790 (GRCm39)	A24T	probably benign	Het
Itpr1	T	C	6: 108,346,077 (GRCm39)	F127L	probably damaging	Het
Itprid2	T	G	2: 79,475,406 (GRCm39)	I455R	probably damaging	Het
Krt86	A	G	15: 101,374,170 (GRCm39)	Y243C	probably damaging	Het
Lnx1	A	T	5: 74,838,230 (GRCm39)	W11R	probably damaging	Het
Mast4	A	G	13: 102,923,929 (GRCm39)	L302P	probably damaging	Het
Mettl3	A	G	14: 52,536,214 (GRCm39)	V210A	possibly damaging	Het
Mllt1	T	C	17: 57,206,822 (GRCm39)	T341A	probably benign	Het
Obscn	T	C	11: 58,891,325 (GRCm39)	E7069G	unknown	Het
Or1e27-ps1	A	T	11: 73,556,160 (GRCm39)	T242S	possibly damaging	Het
Or52b4	T	C	7: 102,184,479 (GRCm39)	I175T	probably benign	Het
Osgep	A	G	14: 51,157,209 (GRCm39)	V11A	possibly damaging	Het
Oxld1	G	A	11: 120,347,675 (GRCm39)	A174V	possibly damaging	Het
Pibf1	A	T	14: 99,350,443 (GRCm39)	E197V	probably null	Het
Pkn1	G	A	8: 84,407,835 (GRCm39)	Q425*	probably null	Het
Pramel22	T	C	4: 143,380,685 (GRCm39)	Y446C	probably benign	Het
Prss35	T	C	9: 86,637,491 (GRCm39)	I87T	probably benign	Het
Psmd11	T	A	11: 80,351,539 (GRCm39)	M254K	probably damaging	Het
Ralgapa2	T	C	2: 146,292,385 (GRCm39)	Y218C	probably damaging	Het
Sec23b	C	T	2: 144,428,894 (GRCm39)	R701C	probably damaging	Het
Slc22a21	A	G	11: 53,848,913 (GRCm39)	S280P	probably damaging	Het
Slc39a12	T	C	2: 14,405,044 (GRCm39)	I212T	possibly damaging	Het
Slc7a12	T	C	3: 14,562,388 (GRCm39)	V255A	probably damaging	Het
Smc3	T	A	19: 53,622,517 (GRCm39)	N697K	probably benign	Het
Snai1	C	A	2: 167,380,831 (GRCm39)	P108Q	probably benign	Het
Stim2	T	G	5: 54,276,021 (GRCm39)	L732R	probably damaging	Het
Syde1	A	G	10: 78,421,938 (GRCm39)	L597S	probably damaging	Het
Tcte1	T	A	17: 45,845,996 (GRCm39)	M200K	probably benign	Het
Tenm2	T	A	11: 36,030,517 (GRCm39)	T761S	probably damaging	Het
Thoc2l	T	A	5: 104,666,262 (GRCm39)	N261K	probably benign	Het
Tlr2	C	A	3: 83,745,455 (GRCm39)	E209D	probably benign	Het
Tpp2	T	C	1: 44,022,739 (GRCm39)	L33P	probably damaging	Het
Trmt1l	C	A	1: 151,304,704 (GRCm39)		probably benign	Het
Unc45a	A	C	7: 79,978,511 (GRCm39)	S646A	possibly damaging	Het
Usp37	A	T	1: 74,534,910 (GRCm39)	I12N	probably damaging	Het
Vmn2r81	T	C	10: 79,104,382 (GRCm39)	V335A	probably benign	Het
Wwc2	A	T	8: 48,311,878 (GRCm39)	S762T	unknown	Het
Yeats2	A	G	16: 20,038,417 (GRCm39)	K129E	probably damaging	Het
Zscan4-ps2	T	C	7: 11,251,558 (GRCm39)	V198A	probably benign	Het

Other mutations in Psmc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
E0370:Psmc3	UTSW	2	90,885,463 (GRCm39)	splice site	probably null
R0747:Psmc3	UTSW	2	90,884,645 (GRCm39)	missense	probably benign	0.10
R1182:Psmc3	UTSW	2	90,886,380 (GRCm39)	missense	probably damaging	1.00
R1763:Psmc3	UTSW	2	90,886,340 (GRCm39)	missense	possibly damaging	0.81
R1967:Psmc3	UTSW	2	90,888,189 (GRCm39)	missense	probably benign	0.19
R2056:Psmc3	UTSW	2	90,888,433 (GRCm39)	missense	probably benign	0.40
R2484:Psmc3	UTSW	2	90,886,346 (GRCm39)	missense	probably damaging	0.97
R3411:Psmc3	UTSW	2	90,886,263 (GRCm39)	missense	probably damaging	1.00
R3608:Psmc3	UTSW	2	90,884,925 (GRCm39)	missense	probably benign	0.00
R4917:Psmc3	UTSW	2	90,896,317 (GRCm39)	unclassified	probably benign
R4954:Psmc3	UTSW	2	90,885,974 (GRCm39)	intron	probably benign
R5033:Psmc3	UTSW	2	90,884,953 (GRCm39)	missense	probably benign	0.03
R5073:Psmc3	UTSW	2	90,884,915 (GRCm39)	splice site	probably benign
R5279:Psmc3	UTSW	2	90,884,667 (GRCm39)	missense	probably benign
R5354:Psmc3	UTSW	2	90,889,698 (GRCm39)	missense	probably damaging	1.00
R6224:Psmc3	UTSW	2	90,884,975 (GRCm39)	missense	probably damaging	1.00
R7039:Psmc3	UTSW	2	90,885,391 (GRCm39)	missense	probably benign	0.32
R7275:Psmc3	UTSW	2	90,886,275 (GRCm39)	missense	probably damaging	0.97
R7962:Psmc3	UTSW	2	90,887,007 (GRCm39)	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- TGGTGAACCTTTCTCTGTACCAG -3'
(R):5'- CAGGATGTCCACCCTGTTAGTG -3'

Sequencing Primer
(F):5'- GAACCTTTCTCTGTACCAGTCCCTG -3'
(R):5'- CCTGTTAGTGGCTGCAATTACCTAAG -3'

Posted On

2017-10-10