Mutagenetix > Incidental Mutation

Incidental Mutation 'R0747:Psmc3'

70167

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

MMRRC Submission

038928-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0747 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90884361-90889783 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90884645 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 18 (E18G)

Ref Sequence

ENSEMBL: ENSMUSP00000107068 (fasta)

Gene Model

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

AlphaFold

O88685

Predicted Effect

probably benign
Transcript: ENSMUST00000002171
AA Change: E18G

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000002171
Gene: ENSMUSG00000002102
AA Change: E18G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000067663
AA Change: E18G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000071054
Gene: ENSMUSG00000002102
AA Change: E18G

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: ENSMUST00000111441
AA Change: E18G

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000107068
Gene: ENSMUSG00000002102
AA Change: E18G

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

noncoding transcript
Transcript: ENSMUST00000144822

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145317

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152269

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151419

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146633

Predicted Effect

probably benign
Transcript: ENSMUST00000185715

SMART Domains

Protein: ENSMUSP00000139782
Gene: ENSMUSG00000002102

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

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

Meta Mutation Damage Score

0.0731

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 94.8%

Validation Efficiency

100% (50/50)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	A	T	11: 46,009,322 (GRCm39)		probably null	Het
Anks4b	C	T	7: 119,781,386 (GRCm39)	A139V	probably damaging	Het
Arf1	G	A	11: 59,103,461 (GRCm39)	R149C	probably benign	Het
Axl	A	T	7: 25,463,484 (GRCm39)	C598S	possibly damaging	Het
B3gnt2	T	C	11: 22,786,316 (GRCm39)	I291V	possibly damaging	Het
Ccdc158	T	A	5: 92,781,156 (GRCm39)	H883L	probably benign	Het
Cep15	T	A	14: 12,287,287 (GRCm38)	M16K	probably benign	Het
Col6a3	A	G	1: 90,730,375 (GRCm39)	S1644P	probably damaging	Het
Cspg4	T	C	9: 56,797,564 (GRCm39)	S1343P	probably damaging	Het
D430041D05Rik	G	T	2: 104,060,651 (GRCm39)	H1414Q	probably damaging	Het
Dnah5	C	G	15: 28,444,332 (GRCm39)	I4043M	probably damaging	Het
Dnah5	T	A	15: 28,444,333 (GRCm39)	C4044S	possibly damaging	Het
Dpep3	C	T	8: 106,704,018 (GRCm39)	A267T	probably benign	Het
Dync1h1	A	C	12: 110,578,845 (GRCm39)	H106P	probably benign	Het
Dync1h1	A	C	12: 110,595,718 (GRCm39)	E1466A	probably damaging	Het
Fggy	T	C	4: 95,700,337 (GRCm39)		probably benign	Het
Frmd6	A	G	12: 70,910,830 (GRCm39)	T5A	probably benign	Het
Gnb5	G	A	9: 75,218,752 (GRCm39)	V26I	probably benign	Het
Hephl1	A	T	9: 14,965,297 (GRCm39)		probably benign	Het
Hmmr	C	T	11: 40,612,572 (GRCm39)		probably benign	Het
Hpn	A	T	7: 30,798,971 (GRCm39)	F356Y	probably damaging	Het
Iqgap3	T	C	3: 88,014,810 (GRCm39)		probably benign	Het
Ism2	A	G	12: 87,332,172 (GRCm39)		probably benign	Het
Kansl1	T	A	11: 104,233,802 (GRCm39)	M754L	probably benign	Het
Kcnc4	A	T	3: 107,355,470 (GRCm39)	I326N	probably damaging	Het
Lcn6	G	A	2: 25,567,184 (GRCm39)	V62M	probably damaging	Het
Lrp1b	A	T	2: 40,760,353 (GRCm39)	C2858S	probably damaging	Het
Lyn	G	A	4: 3,745,638 (GRCm39)		probably benign	Het
Mov10	T	A	3: 104,709,812 (GRCm39)	H358L	probably benign	Het
Notch1	A	G	2: 26,362,152 (GRCm39)	V60A	unknown	Het
Or2t6	C	T	14: 14,175,429 (GRCm38)	A218T	probably benign	Het
Pgap2	C	A	7: 101,886,343 (GRCm39)	Y176*	probably null	Het
Pglyrp1	A	G	7: 18,624,200 (GRCm39)	Q161R	possibly damaging	Het
Plod3	A	G	5: 137,017,049 (GRCm39)	N66S	probably benign	Het
Psme3	T	G	11: 101,207,872 (GRCm39)	M9R	probably benign	Het
Rapgef4	A	G	2: 72,053,417 (GRCm39)	N428S	possibly damaging	Het
Rbp3	A	G	14: 33,678,235 (GRCm39)	I728V	possibly damaging	Het
Sall4	A	T	2: 168,596,886 (GRCm39)	H651Q	probably damaging	Het
Skint3	T	A	4: 112,111,102 (GRCm39)	Y76N	probably damaging	Het
Slc13a4	T	C	6: 35,255,263 (GRCm39)	T342A	probably damaging	Het
Slc25a1	G	T	16: 17,744,084 (GRCm39)	T239K	probably damaging	Het
Slc36a2	T	A	11: 55,060,685 (GRCm39)	I242F	probably benign	Het
Tekt2	G	A	4: 126,217,553 (GRCm39)	Q171*	probably null	Het
Tet2	T	G	3: 133,173,231 (GRCm39)	H1677P	possibly damaging	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Trcg1	C	T	9: 57,149,204 (GRCm39)	P259S	probably benign	Het
Ttn	A	C	2: 76,540,942 (GRCm39)	S25688A	probably damaging	Het
Vmn2r117	T	A	17: 23,694,477 (GRCm39)	R457*	probably null	Het
Zbbx	C	T	3: 75,062,734 (GRCm39)	V8I	probably damaging	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
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
R6169:Psmc3	UTSW	2	90,888,184 (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'- TGCATTTCCCGAAAGACTCCGC -3'
(R):5'- TGCTTCCTTAACCCAACAGCAGG -3'

Sequencing Primer
(F):5'- GCAGATTCGCTCGGAGAC -3'
(R):5'- TTAACCCAACAGCAGGATGAAG -3'

Posted On

2013-09-30