Mutagenetix > Incidental Mutation

Incidental Mutation 'R6168:Psmc6'

490271

Institutional Source

Beutler Lab

Gene Symbol

Psmc6

Ensembl Gene

ENSMUSG00000021832

Gene Name

proteasome (prosome, macropain) 26S subunit, ATPase, 6

Synonyms

2300001E01Rik

MMRRC Submission

044430-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6168 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45567285-45587150 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45581140 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 312 (I312T)

Ref Sequence

ENSEMBL: ENSMUSP00000022380 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022380]

AlphaFold

P62334

Predicted Effect

probably damaging
Transcript: ENSMUST00000022380
AA Change: I312T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000022380
Gene: ENSMUSG00000021832
AA Change: I312T

Domain	Start	End	E-Value	Type
low complexity region	25	39	N/A	INTRINSIC
AAA	166	305	8.77e-22	SMART
Blast:AAA	333	381	3e-17	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226739

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227148

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227385

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228026

Predicted Effect

probably benign
Transcript: ENSMUST00000228479

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228831

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

Validation Efficiency

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. Pseudogenes have been identified on chromosomes 8 and 12. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	C	T	2: 68,571,827 (GRCm39)	L568F	possibly damaging	Het
Adam3	A	T	8: 25,171,630 (GRCm39)		probably null	Het
Adamts13	G	T	2: 26,894,898 (GRCm39)	A1069S	probably benign	Het
Adarb1	A	G	10: 77,158,153 (GRCm39)	L98P	probably damaging	Het
Ahnak2	T	C	12: 112,747,750 (GRCm39)	E1035G	probably benign	Het
Alox12b	T	A	11: 69,060,460 (GRCm39)	I672N	probably damaging	Het
Ark2n	A	G	18: 77,761,653 (GRCm39)	S220P	probably damaging	Het
Ash1l	C	T	3: 88,960,080 (GRCm39)	R2271*	probably null	Het
Atf7ip	A	G	6: 136,536,817 (GRCm39)	T17A	probably damaging	Het
Col6a5	A	G	9: 105,752,986 (GRCm39)		probably null	Het
Crcp	A	G	5: 130,066,737 (GRCm39)	N41S	probably damaging	Het
Defb15	A	C	8: 22,420,069 (GRCm39)	N19K	possibly damaging	Het
Dnah7a	T	A	1: 53,450,727 (GRCm39)	D3901V	probably damaging	Het
Dnah7b	A	C	1: 46,329,863 (GRCm39)	T3236P	probably damaging	Het
Dnmbp	A	G	19: 43,838,679 (GRCm39)	S608P	probably damaging	Het
Efcab12	T	C	6: 115,791,577 (GRCm39)	K532E	probably damaging	Het
Fbrsl1	C	T	5: 110,543,922 (GRCm39)	V54M	probably damaging	Het
Gm14496	T	A	2: 181,642,750 (GRCm39)	V807E	probably damaging	Het
Hoxa2	A	G	6: 52,140,461 (GRCm39)	L175P	probably damaging	Het
Igkv4-58	A	C	6: 69,477,281 (GRCm39)	D105E	probably damaging	Het
Igkv8-27	A	T	6: 70,148,880 (GRCm39)	S91R	probably benign	Het
Itgax	T	C	7: 127,732,269 (GRCm39)	V175A	probably damaging	Het
Kcnc2	A	G	10: 112,291,661 (GRCm39)	D283G	probably benign	Het
Lepr	G	A	4: 101,592,789 (GRCm39)	G135R	probably damaging	Het
Mcf2l	A	G	8: 13,051,823 (GRCm39)	S378G	probably benign	Het
Mta1	T	A	12: 113,086,739 (GRCm39)	D145E	probably damaging	Het
Nkd1	T	A	8: 89,311,859 (GRCm39)	N44K	probably damaging	Het
Notch2	A	G	3: 98,052,533 (GRCm39)	K2010E	probably damaging	Het
Nsd3	G	A	8: 26,181,188 (GRCm39)	G930S	probably null	Het
Or2w1	T	G	13: 21,317,399 (GRCm39)	I151M	possibly damaging	Het
Or6c203	A	G	10: 129,010,035 (GRCm39)	F285S	probably damaging	Het
Or8g35	A	G	9: 39,381,953 (GRCm39)	L23P	probably damaging	Het
Or8k3	T	G	2: 86,058,938 (GRCm39)	I126L	probably damaging	Het
Or8u8	T	C	2: 86,012,309 (GRCm39)	I49V	probably damaging	Het
Pde4c	G	A	8: 71,202,688 (GRCm39)	E625K	probably benign	Het
Pdgfb	T	C	15: 79,884,587 (GRCm39)	T151A	probably benign	Het
Pik3r5	T	C	11: 68,383,501 (GRCm39)	V440A	probably benign	Het
Piwil2	T	C	14: 70,632,800 (GRCm39)	T591A	probably benign	Het
Ppm1l	A	G	3: 69,456,740 (GRCm39)	D219G	probably damaging	Het
Rasl10a	T	C	11: 5,008,442 (GRCm39)	V46A	possibly damaging	Het
Rhov	T	C	2: 119,101,453 (GRCm39)	Y51C	probably damaging	Het
S100a16	C	T	3: 90,449,879 (GRCm39)	Q121*	probably null	Het
Slc5a12	T	C	2: 110,447,089 (GRCm39)	V199A	probably damaging	Het
Slc6a7	A	T	18: 61,134,734 (GRCm39)	M447K	probably benign	Het
Tarbp1	A	G	8: 127,175,144 (GRCm39)	V764A	possibly damaging	Het
Vmn1r197	T	C	13: 22,512,678 (GRCm39)	Y200H	possibly damaging	Het
Vmn2r102	G	A	17: 19,914,402 (GRCm39)	A656T	possibly damaging	Het
Vmn2r49	G	T	7: 9,718,713 (GRCm39)	D450E	probably benign	Het
Wdr7	T	A	18: 63,911,048 (GRCm39)	N813K	probably damaging	Het
Yeats2	T	C	16: 19,998,308 (GRCm39)	S288P	probably benign	Het
Zfta	T	C	19: 7,400,305 (GRCm39)	V257A	probably benign	Het
Zswim6	G	A	13: 107,924,299 (GRCm39)		noncoding transcript	Het

Other mutations in Psmc6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01139:Psmc6	APN	14	45,581,167 (GRCm39)	missense	probably benign	0.27
IGL01396:Psmc6	APN	14	45,581,124 (GRCm39)	missense	probably benign	0.21
R2072:Psmc6	UTSW	14	45,567,323 (GRCm39)	missense	possibly damaging	0.94
R5948:Psmc6	UTSW	14	45,572,114 (GRCm39)	missense	probably benign	0.37
R6120:Psmc6	UTSW	14	45,586,130 (GRCm39)	missense	possibly damaging	0.80
R6931:Psmc6	UTSW	14	45,581,182 (GRCm39)	missense	possibly damaging	0.86
R7548:Psmc6	UTSW	14	45,572,375 (GRCm39)	missense	probably benign	0.00
R7772:Psmc6	UTSW	14	45,581,107 (GRCm39)	missense	probably damaging	1.00
R8059:Psmc6	UTSW	14	45,578,260 (GRCm39)	missense	probably damaging	0.99
R8856:Psmc6	UTSW	14	45,578,320 (GRCm39)	missense	probably damaging	0.99
R9040:Psmc6	UTSW	14	45,581,111 (GRCm39)	missense	probably benign
R9448:Psmc6	UTSW	14	45,568,483 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- TGCGCCCAGGAAGATTAGATAG -3'
(R):5'- GTAGCAATACTTCCAATCTTCACAC -3'

Sequencing Primer
(F):5'- AATACGTGAGTTACTCTCTTT -3'
(R):5'- TCCAATCTTCACACTTTATTCTTCTG -3'

Posted On

2017-10-10