Mutagenetix > Incidental Mutation

Incidental Mutation 'R9040:Psmc6'

687690

Institutional Source

Beutler Lab

Gene Symbol

Psmc6

Ensembl Gene

ENSMUSG00000021832

Gene Name

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

Synonyms

2300001E01Rik

MMRRC Submission

068867-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9040 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45567285-45587150 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45581111 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 302 (D302E)

Ref Sequence

ENSEMBL: ENSMUSP00000022380 (fasta)

Gene Model

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

AlphaFold

P62334

Predicted Effect

probably benign
Transcript: ENSMUST00000022380
AA Change: D302E

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

SMART Domains

Protein: ENSMUSP00000022380
Gene: ENSMUSG00000021832
AA Change: D302E

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

probably benign
Transcript: ENSMUST00000228479

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (59/59)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34	A	C	8: 44,103,363 (GRCm39)		probably benign	Het
Agap1	T	C	1: 89,671,466 (GRCm39)	V391A	probably damaging	Het
Apba2	C	T	7: 64,393,072 (GRCm39)	A531V	possibly damaging	Het
Apcdd1	T	A	18: 63,070,414 (GRCm39)	V227E	probably damaging	Het
Bbs7	A	G	3: 36,629,987 (GRCm39)	V564A	probably benign	Het
Ccdc154	T	A	17: 25,382,793 (GRCm39)	M141K	possibly damaging	Het
Cd200l1	C	A	16: 45,264,509 (GRCm39)	K16N	possibly damaging	Het
Cdk9	C	A	2: 32,597,999 (GRCm39)	Q352H	probably benign	Het
Chsy3	T	C	18: 59,542,760 (GRCm39)	Y633H	probably damaging	Het
Cpz	T	A	5: 35,672,835 (GRCm39)	Y195F	possibly damaging	Het
Cyp3a16	T	C	5: 145,392,922 (GRCm39)	R128G	possibly damaging	Het
Dhodh	A	T	8: 110,328,781 (GRCm39)		probably benign	Het
Dlec1	G	A	9: 118,950,985 (GRCm39)	S517N	probably benign	Het
Dock7	A	T	4: 98,889,364 (GRCm39)	L175*	probably null	Het
Duxf1	A	G	10: 58,059,608 (GRCm39)	I382T	unknown	Het
Ect2l	A	T	10: 18,077,098 (GRCm39)	S2T	possibly damaging	Het
Epn3	G	A	11: 94,382,749 (GRCm39)	S445F	possibly damaging	Het
Gm40460	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	7: 141,794,171 (GRCm39)		probably benign	Het
Gm7298	T	C	6: 121,764,438 (GRCm39)	F1439S	probably benign	Het
Hormad1	A	T	3: 95,487,470 (GRCm39)	E289D	possibly damaging	Het
Idua	T	C	5: 108,828,929 (GRCm39)	L391P	probably damaging	Het
Kank2	G	T	9: 21,706,115 (GRCm39)	A301E	probably damaging	Het
Kcnk10	C	T	12: 98,401,098 (GRCm39)	E526K	probably benign	Het
Kif16b	T	C	2: 142,691,798 (GRCm39)	I229V	probably benign	Het
Krt25	T	C	11: 99,207,379 (GRCm39)	Y400C	probably benign	Het
Krt26	C	T	11: 99,222,093 (GRCm39)	G405S	probably benign	Het
Krt42	G	A	11: 100,157,859 (GRCm39)	R202W	probably damaging	Het
Lbr	A	G	1: 181,644,910 (GRCm39)	V547A	probably damaging	Het
Lrrc8b	T	C	5: 105,628,161 (GRCm39)	L169P	probably benign	Het
Midn	T	A	10: 79,989,918 (GRCm39)	V262D	probably damaging	Het
Mroh9	T	A	1: 162,890,069 (GRCm39)	I223F	probably benign	Het
Mtor	C	A	4: 148,548,205 (GRCm39)	A490E	probably benign	Het
Muc16	G	A	9: 18,556,082 (GRCm39)	Q3404*	probably null	Het
Myo5a	A	T	9: 75,081,341 (GRCm39)	E975D	probably benign	Het
Ncoa7	T	C	10: 30,530,389 (GRCm39)	Y764C	probably benign	Het
Nedd4l	T	C	18: 65,342,734 (GRCm39)	L769P	probably damaging	Het
Or11g25	G	T	14: 50,722,995 (GRCm39)	G27W	probably benign	Het
Pank4	C	G	4: 155,064,559 (GRCm39)	T706R	probably benign	Het
Plxnc1	G	T	10: 94,779,379 (GRCm39)	C354*	probably null	Het
Prkca	A	G	11: 107,905,186 (GRCm39)	I184T	possibly damaging	Het
Prune2	T	C	19: 17,097,991 (GRCm39)	V1165A	probably damaging	Het
Rab11fip5	A	G	6: 85,324,915 (GRCm39)	L464P	probably damaging	Het
Reg1	A	T	6: 78,403,268 (GRCm39)		probably benign	Het
Rhbdf1	T	C	11: 32,163,063 (GRCm39)	T438A	probably benign	Het
Ryr2	T	C	13: 11,609,672 (GRCm39)	R4385G	probably damaging	Het
Ryr3	A	G	2: 112,784,731 (GRCm39)	Y237H	probably damaging	Het
Scai	G	T	2: 38,965,164 (GRCm39)	T560K	probably benign	Het
Scn1a	A	G	2: 66,148,245 (GRCm39)	L80P	probably damaging	Het
Sez6	T	C	11: 77,864,762 (GRCm39)	L574P	probably benign	Het
Slc41a1	T	G	1: 131,768,623 (GRCm39)	S194A	probably damaging	Het
Slc6a7	T	C	18: 61,134,360 (GRCm39)		probably benign	Het
Slit3	A	G	11: 35,594,136 (GRCm39)	H1442R	probably damaging	Het
Sra1	A	T	18: 36,808,790 (GRCm39)	L281Q	probably damaging	Het
Steap2	A	T	5: 5,732,722 (GRCm39)	W101R	probably benign	Het
Tfap2b	C	T	1: 19,304,314 (GRCm39)	R375W	probably damaging	Het
Tfr2	A	T	5: 137,572,967 (GRCm39)	T233S	probably benign	Het
Traf3ip1	T	A	1: 91,429,092 (GRCm39)	H286Q	probably damaging	Het
Ubash3a	A	G	17: 31,457,960 (GRCm39)		probably benign	Het
Vmn2r85	A	G	10: 130,254,311 (GRCm39)	I791T	probably damaging	Het
Zkscan4	T	C	13: 21,668,229 (GRCm39)	C256R	probably benign	Het
Zscan4-ps3	A	T	7: 11,346,638 (GRCm39)	N225Y	probably benign	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
R6168:Psmc6	UTSW	14	45,581,140 (GRCm39)	missense	probably damaging	1.00
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
R9448:Psmc6	UTSW	14	45,568,483 (GRCm39)	missense	probably benign	0.05

Predicted Primers

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

Sequencing Primer
(F):5'- TGCTGCGCCCAGGAAGATTAG -3'
(R):5'- TTCAGAAGAGTCCATAAACTCCTAGG -3'

Posted On

2021-11-19