Mutagenetix > Incidental Mutations

Incidental Mutation 'R7121:Psmd11'

552025

Institutional Source

Beutler Lab

Gene Symbol

Psmd11

Ensembl Gene

ENSMUSG00000017428

Gene Name

proteasome (prosome, macropain) 26S subunit, non-ATPase, 11

Synonyms

1700089D09Rik, 2810055C24Rik, P44.5, C78232, 2610024G20Rik, S9, 1810019E17Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R7121 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80428615-80473248 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 80438273 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 72 (Y72*)

Ref Sequence

ENSEMBL: ENSMUSP00000017572 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017572] [ENSMUST00000172615] [ENSMUST00000172773] [ENSMUST00000172847] [ENSMUST00000173186] [ENSMUST00000173565] [ENSMUST00000173938] [ENSMUST00000174743]

Predicted Effect

probably null
Transcript: ENSMUST00000017572
AA Change: Y72*

SMART Domains

Protein: ENSMUSP00000017572
Gene: ENSMUSG00000017428
AA Change: Y72*

Domain	Start	End	E-Value	Type
PAM	143	320	1.6e-67	SMART
PINT	321	404	4.34e-23	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000172615
AA Change: Y72*

SMART Domains

Protein: ENSMUSP00000134129
Gene: ENSMUSG00000017428
AA Change: Y72*

Domain	Start	End	E-Value	Type
PDB:3TXN\|A	37	106	1e-22	PDB
Blast:PAM	83	106	2e-6	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000172773
AA Change: Y72*

SMART Domains

Protein: ENSMUSP00000134096
Gene: ENSMUSG00000017428
AA Change: Y72*

Domain	Start	End	E-Value	Type
PDB:3TXN\|A	37	110	7e-24	PDB
Blast:PAM	83	110	1e-7	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000172847
AA Change: Y65*

SMART Domains

Protein: ENSMUSP00000134136
Gene: ENSMUSG00000017428
AA Change: Y65*

Domain	Start	End	E-Value	Type
PDB:3TXN\|A	30	99	2e-22	PDB
Blast:PAM	76	99	1e-6	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000173060
AA Change: Y63*

SMART Domains

Protein: ENSMUSP00000133509
Gene: ENSMUSG00000017428
AA Change: Y63*

Domain	Start	End	E-Value	Type
PDB:3TXN\|A	29	98	2e-22	PDB
Blast:PAM	75	98	1e-6	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000173186

Predicted Effect

probably benign
Transcript: ENSMUST00000173565

SMART Domains

Protein: ENSMUSP00000134326
Gene: ENSMUSG00000017428

Domain	Start	End	E-Value	Type
PDB:3TXN\|A	1	114	2e-50	PDB
Blast:PAM	45	114	3e-31	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000173938
AA Change: Y72*

SMART Domains

Protein: ENSMUSP00000133571
Gene: ENSMUSG00000017428
AA Change: Y72*

Domain	Start	End	E-Value	Type
PAM	143	320	1.6e-67	SMART
PINT	321	404	4.34e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000174743

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (71/72)

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. This gene encodes a member of the proteasome subunit S9 family that functions as a non-ATPase subunit of the 19S regulator and is phosphorylated by AMP-activated protein kinase. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933411K16Rik	C	T	19: 42,052,673	A81V	probably benign	Het
Abcc9	A	T	6: 142,689,127	L137*	probably null	Het
Akap10	A	G	11: 61,886,698		probably null	Het
Alms1	T	A	6: 85,624,622	Y1683N	probably damaging	Het
Atl1	A	G	12: 69,931,634	S127G	probably damaging	Het
Cadm1	G	A	9: 47,799,410	V204M	probably damaging	Het
Cbr3	T	A	16: 93,690,550	I207N	probably damaging	Het
Ccdc148	A	T	2: 58,827,567	Y475N	probably damaging	Het
Ccdc33	A	T	9: 58,080,884	S144T	probably benign	Het
Ceacam5	C	A	7: 17,745,537	A193E	probably benign	Het
Chd2	T	C	7: 73,469,670	D1042G	probably benign	Het
Chmp5	A	T	4: 40,952,217		probably null	Het
Clca1	T	A	3: 145,011,806	N467I	probably damaging	Het
D130040H23Rik	T	C	8: 69,302,279	V112A	probably damaging	Het
Dbh	A	T	2: 27,168,306	D162V	probably damaging	Het
Dnah12	G	A	14: 26,778,912		probably null	Het
Dnm2	C	T	9: 21,474,566	T295I	probably benign	Het
Faiml	A	C	9: 99,234,393	D81E	probably benign	Het
Fer1l4	T	A	2: 156,044,557	Y720F	probably benign	Het
Fn1	A	C	1: 71,600,538		probably benign	Het
Ftsj3	T	C	11: 106,252,297	E397G	probably damaging	Het
Gm16506	T	C	14: 43,727,360	K42E		Het
Gpr179	A	G	11: 97,334,730	S2200P	probably benign	Het
Gusb	T	C	5: 130,000,043	D202G	probably benign	Het
Hspe1	A	G	1: 55,089,151	E35G	probably damaging	Het
Kptn	T	A	7: 16,123,098	H170Q	probably damaging	Het
Lama3	G	A	18: 12,462,782	A923T	probably benign	Het
Lmo7	T	A	14: 101,887,035	I432K	probably damaging	Het
Maneal	G	A	4: 124,857,112	P284S	probably benign	Het
Mrgbp	A	G	2: 180,582,889	T28A	probably benign	Het
Myo1h	T	C	5: 114,338,229	V493A		Het
Naxd	T	C	8: 11,506,745	L122P	probably damaging	Het
Neto2	T	C	8: 85,670,391		probably null	Het
Obscn	T	A	11: 59,013,252	R7299*	probably null	Het
Odf2l	G	A	3: 145,139,820	V363I	possibly damaging	Het
Olfr117	T	C	17: 37,659,808	H175R	probably damaging	Het
Olfr1186	A	T	2: 88,525,826	D81V	probably damaging	Het
Olfr1458	T	A	19: 13,103,173	I44F	probably benign	Het
Olfr69	A	T	7: 103,767,733	Y221*	probably null	Het
Olfr721-ps1	A	G	14: 14,407,998	T257A	possibly damaging	Het
Otud3	G	A	4: 138,896,756	P325L	probably benign	Het
Palb2	T	C	7: 122,124,834	N564S	probably benign	Het
Pcnt	A	G	10: 76,427,927	V401A	possibly damaging	Het
Plcd4	G	A	1: 74,565,365	E767K	probably benign	Het
Ppp3ca	T	C	3: 136,868,626	F95S	probably damaging	Het
Prkar2a	A	G	9: 108,692,622	T56A	probably benign	Het
Psma2	T	A	13: 14,625,230	D186E	probably benign	Het
Ror1	G	A	4: 100,302,945	D53N	probably benign	Het
Rubcn	C	T	16: 32,836,469	R527Q	probably damaging	Het
Sgca	G	A	11: 94,969,547	P255S	possibly damaging	Het
Skint11	A	T	4: 114,227,796	R167S	probably benign	Het
Slco5a1	A	G	1: 12,990,437	V20A	probably benign	Het
Snai2	T	C	16: 14,707,106	S159P	probably benign	Het
Taar2	T	G	10: 23,940,827	S88R	probably damaging	Het
Tacc3	T	A	5: 33,667,165	N378K	possibly damaging	Het
Tek	A	G	4: 94,811,410	K342E	probably benign	Het
Tm9sf3	G	T	19: 41,245,505	S198*	probably null	Het
Tmbim4	T	A	10: 120,215,609	F56I	possibly damaging	Het
Tsen34	T	A	7: 3,694,987	S85T	probably benign	Het
Ttc27	C	A	17: 74,747,715	Q339K	probably benign	Het
Ubap2	G	T	4: 41,205,550	P636T	probably benign	Het
Ubr1	G	A	2: 120,875,498	L1495F	probably benign	Het
Vsig10	T	C	5: 117,343,902	S386P	probably damaging	Het
Wnk2	C	A	13: 49,147,177	R19L	probably benign	Het
Wsb2	T	C	5: 117,370,879	L126P	probably damaging	Het
Xylb	A	G	9: 119,382,292	I402V	probably benign	Het
Yrdc	A	G	4: 124,850,955	S61G	probably benign	Het
Zbtb3	A	G	19: 8,803,407	D128G	probably damaging	Het
Zfp423	C	T	8: 87,780,861	G952R	probably damaging	Het
Zfp646	A	G	7: 127,879,772	T374A	possibly damaging	Het

Other mutations in Psmd11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00435:Psmd11	APN	11	80470384	missense	possibly damaging	0.88
IGL03383:Psmd11	APN	11	80469845	missense	probably damaging	1.00
R0358:Psmd11	UTSW	11	80462684	splice site	probably benign
R0529:Psmd11	UTSW	11	80470689	unclassified	probably benign
R1127:Psmd11	UTSW	11	80471584	missense	possibly damaging	0.89
R1936:Psmd11	UTSW	11	80428744	missense	probably damaging	1.00
R1985:Psmd11	UTSW	11	80445263	missense	probably damaging	1.00
R2356:Psmd11	UTSW	11	80428704	missense	possibly damaging	0.89
R2994:Psmd11	UTSW	11	80460667	missense	probably damaging	1.00
R4898:Psmd11	UTSW	11	80438320	missense	probably damaging	1.00
R5173:Psmd11	UTSW	11	80460740	missense	probably benign	0.01
R5234:Psmd11	UTSW	11	80428740	missense	probably benign	0.05
R5794:Psmd11	UTSW	11	80471492	missense	probably benign	0.00
R6169:Psmd11	UTSW	11	80460713	missense	probably damaging	1.00
R6266:Psmd11	UTSW	11	80445941	missense	probably benign	0.01
R6275:Psmd11	UTSW	11	80438632	intron	probably benign
R7318:Psmd11	UTSW	11	80456302	missense	probably benign	0.29
R7769:Psmd11	UTSW	11	80434582	intron	probably benign
R8250:Psmd11	UTSW	11	80445926	missense	possibly damaging	0.68
Z1088:Psmd11	UTSW	11	80471550	frame shift	probably null
Z1176:Psmd11	UTSW	11	80428648	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- AACACAGTTGGCAGGAATTTG -3'
(R):5'- TAAGTCCTGAGCATCCTCCC -3'

Sequencing Primer
(F):5'- AGGAATTTGGTCCTGGGGTGTAAG -3'
(R):5'- CACAGTGAAGTAAGTAGGCATCTTTC -3'

Posted On

2019-05-15