Mutagenetix > Incidental Mutation

Incidental Mutation 'R2072:Psmc6'

227259

Institutional Source

Beutler Lab

Gene Symbol

Psmc6

Ensembl Gene

ENSMUSG00000021832

Gene Name

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

Synonyms

2300001E01Rik

MMRRC Submission

040077-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2072 (G1)

Quality Score

208

Status

Not validated

Chromosome

Chromosomal Location

45567285-45587150 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45567323 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 7 (K7E)

Ref Sequence

ENSEMBL: ENSMUSP00000153960 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022380] [ENSMUST00000228300]

AlphaFold

P62334

Predicted Effect

probably benign
Transcript: ENSMUST00000022380
AA Change: K7E

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

SMART Domains

Protein: ENSMUSP00000022380
Gene: ENSMUSG00000021832
AA Change: K7E

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: ENSMUST00000226431

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227148

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227385

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228026

Predicted Effect

possibly damaging
Transcript: ENSMUST00000228300
AA Change: K7E

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

unknown
Transcript: ENSMUST00000228479
AA Change: K2E

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228870

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228831

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	C	5: 64,056,080 (GRCm39)	R272P	possibly damaging	Het
Ablim3	A	T	18: 61,990,159 (GRCm39)	D83E	possibly damaging	Het
Aco1	G	A	4: 40,183,605 (GRCm39)	G508S	probably damaging	Het
Adamts13	C	A	2: 26,895,437 (GRCm39)	T1176N	probably benign	Het
Adgre5	T	C	8: 84,454,433 (GRCm39)	T357A	probably benign	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Ankrd33	T	C	15: 101,017,517 (GRCm39)	V310A	probably benign	Het
Armh3	A	T	19: 45,953,820 (GRCm39)	I188K	probably damaging	Het
Bnipl	C	T	3: 95,151,522 (GRCm39)	G232E	probably damaging	Het
Btbd17	A	T	11: 114,682,778 (GRCm39)		probably null	Het
Cacna1s	G	A	1: 136,007,242 (GRCm39)	V173I	probably benign	Het
Ccdc122	T	C	14: 77,306,391 (GRCm39)		probably null	Het
Ces1a	T	A	8: 93,774,703 (GRCm39)	N12Y	probably benign	Het
Chrdl1	T	C	X: 142,086,414 (GRCm39)	I231V	probably benign	Het
Ciita	C	T	16: 10,336,217 (GRCm39)	T958I	probably benign	Het
Cnot1	G	T	8: 96,466,461 (GRCm39)	T1592K	possibly damaging	Het
Dcaf15	T	C	8: 84,828,370 (GRCm39)	D240G	probably damaging	Het
Dlgap1	C	T	17: 70,969,765 (GRCm39)	R524C	probably damaging	Het
Dmd	G	C	X: 83,356,089 (GRCm39)	A2257P	probably benign	Het
Dsg1c	A	G	18: 20,408,309 (GRCm39)	M453V	probably benign	Het
Ednrb	G	T	14: 104,054,535 (GRCm39)	N432K	probably benign	Het
Fcgbp	G	A	7: 27,819,814 (GRCm39)	G2514S	probably damaging	Het
Fez1	A	G	9: 36,779,241 (GRCm39)	K306R	probably benign	Het
Fmo4	A	G	1: 162,637,456 (GRCm39)	V12A	probably benign	Het
Fpgt	T	C	3: 154,793,511 (GRCm39)	Y172C	probably damaging	Het
Fsip2	T	A	2: 82,839,159 (GRCm39)	F6976I	possibly damaging	Het
Galnt12	C	T	4: 47,108,477 (GRCm39)	R205*	probably null	Het
Grik5	A	T	7: 24,714,738 (GRCm39)	M752K	possibly damaging	Het
Herc2	A	G	7: 55,876,712 (GRCm39)	N4516S	probably damaging	Het
Ifrd2	A	T	9: 107,469,744 (GRCm39)	D439V	probably damaging	Het
Igsf3	A	G	3: 101,346,831 (GRCm39)	T609A	probably benign	Het
Kif5a	T	C	10: 127,081,238 (GRCm39)	D232G	probably damaging	Het
Lgi2	A	G	5: 52,695,847 (GRCm39)	S371P	probably damaging	Het
Marchf3	A	T	18: 56,944,925 (GRCm39)	V56E	possibly damaging	Het
Mib2	T	C	4: 155,744,158 (GRCm39)	D168G	probably damaging	Het
Nhs	T	A	X: 160,625,717 (GRCm39)	H544L	probably damaging	Het
Nlrp2	A	G	7: 5,328,005 (GRCm39)	S683P	probably damaging	Het
Onecut3	T	G	10: 80,330,848 (GRCm39)	L3V	unknown	Het
Or12j2	T	C	7: 139,916,566 (GRCm39)	S264P	possibly damaging	Het
Or4c35	C	A	2: 89,808,557 (GRCm39)	T145K	probably benign	Het
Or5b102	A	T	19: 13,041,044 (GRCm39)	M90L	probably benign	Het
Otogl	C	T	10: 107,616,904 (GRCm39)	C1791Y	probably damaging	Het
Paip1	T	C	13: 119,566,798 (GRCm39)	V128A	possibly damaging	Het
Pcnx2	A	T	8: 126,488,481 (GRCm39)	C1688S	possibly damaging	Het
Pdzd2	A	G	15: 12,385,905 (GRCm39)	L955P	probably damaging	Het
Phlpp2	T	C	8: 110,655,124 (GRCm39)	S605P	possibly damaging	Het
Pkhd1l1	G	T	15: 44,422,035 (GRCm39)	A3102S	probably damaging	Het
Plxnb2	G	T	15: 89,042,654 (GRCm39)	R1545S	probably damaging	Het
Ppp4c	T	C	7: 126,386,520 (GRCm39)		probably null	Het
Prune1	C	T	3: 95,162,719 (GRCm39)	R318Q	probably benign	Het
Psg27	T	C	7: 18,294,342 (GRCm39)	D355G	probably damaging	Het
Psg27	A	G	7: 18,298,934 (GRCm39)	L129P	probably benign	Het
Reln	A	T	5: 22,124,175 (GRCm39)	V2777E	probably damaging	Het
Rigi	A	T	4: 40,224,069 (GRCm39)		probably null	Het
Scn11a	G	T	9: 119,640,274 (GRCm39)	A207E	possibly damaging	Het
Slc5a5	C	T	8: 71,345,083 (GRCm39)	G75R	possibly damaging	Het
Smarcd2	A	T	11: 106,156,133 (GRCm39)	L42*	probably null	Het
Smg1	T	C	7: 117,762,389 (GRCm39)		probably benign	Het
Smurf2	T	A	11: 106,732,595 (GRCm39)	Q335L	probably benign	Het
Sspo	A	T	6: 48,450,451 (GRCm39)	H2580L	probably benign	Het
Stk3	T	C	15: 34,959,195 (GRCm39)	M256V	possibly damaging	Het
Syt1	A	G	10: 108,419,833 (GRCm39)	I276T	probably damaging	Het
Syt10	C	T	15: 89,674,979 (GRCm39)	D456N	probably damaging	Het
Taar9	A	T	10: 23,984,877 (GRCm39)	C186S	probably damaging	Het
Tnrc6b	C	T	15: 80,767,166 (GRCm39)	P977L	possibly damaging	Het
Trp53bp2	A	G	1: 182,286,432 (GRCm39)	T1091A	probably benign	Het
Ttn	G	T	2: 76,768,120 (GRCm39)	T2947N	probably damaging	Het
Ube2q1	T	C	3: 89,686,878 (GRCm39)		probably null	Het
Ube3c	A	G	5: 29,840,638 (GRCm39)	E671G	probably benign	Het
Upf3a	A	G	8: 13,835,850 (GRCm39)	K56R	possibly damaging	Het
Vmn2r15	A	T	5: 109,434,619 (GRCm39)	M695K	possibly damaging	Het
Vmn2r3	A	T	3: 64,182,493 (GRCm39)	M402K	possibly damaging	Het
Zfp354b	T	A	11: 50,813,279 (GRCm39)	R549*	probably null	Het
Zfp37	A	T	4: 62,109,945 (GRCm39)	M411K	probably damaging	Het
Zfp747	T	A	7: 126,973,142 (GRCm39)	T343S	possibly damaging	Het
Zfp853	T	A	5: 143,275,137 (GRCm39)	Q161L	unknown	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
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
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'- GCTCTAGGTGACTGACTTCG -3'
(R):5'- GTGGCTGTTCTCTATGCCAC -3'

Sequencing Primer
(F):5'- TGACTGACTTCGGCGCC -3'
(R):5'- GATGACAAAGCGCCTCGTC -3'

Posted On

2014-09-17