Mutagenetix > Incidental Mutation

Incidental Mutation 'R5234:Psmd11'

398230

Institutional Source

Beutler Lab

Gene Symbol

Psmd11

Ensembl Gene

ENSMUSG00000017428

Gene Name

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

Synonyms

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

MMRRC Submission

042806-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R5234 (G1)

Quality Score

195

Status

Not validated

Chromosome

Chromosomal Location

80319441-80364074 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80319566 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 19 (I19V)

Ref Sequence

ENSEMBL: ENSMUSP00000133442 (fasta)

Gene Model

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

AlphaFold

Q8BG32

Predicted Effect

probably benign
Transcript: ENSMUST00000017572
AA Change: I26V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000017572
Gene: ENSMUSG00000017428
AA Change: I26V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147898

Predicted Effect

probably benign
Transcript: ENSMUST00000172615
AA Change: I26V

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

SMART Domains

Protein: ENSMUSP00000134129
Gene: ENSMUSG00000017428
AA Change: I26V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172641

Predicted Effect

probably benign
Transcript: ENSMUST00000172773
AA Change: I26V

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

SMART Domains

Protein: ENSMUSP00000134096
Gene: ENSMUSG00000017428
AA Change: I26V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000172847
AA Change: I19V

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

SMART Domains

Protein: ENSMUSP00000134136
Gene: ENSMUSG00000017428
AA Change: I19V

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

Predicted Effect

unknown
Transcript: ENSMUST00000173060
AA Change: I17V

SMART Domains

Protein: ENSMUSP00000133509
Gene: ENSMUSG00000017428
AA Change: I17V

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
AA Change: I19V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000173938
AA Change: I26V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000133571
Gene: ENSMUSG00000017428
AA Change: I26V

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
AA Change: I19V

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
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. 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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	G	A	1: 71,302,823 (GRCm39)	T2132M	probably damaging	Het
Abca8b	A	T	11: 109,867,420 (GRCm39)	F213I	possibly damaging	Het
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Adamts6	A	G	13: 104,630,130 (GRCm39)	Y1091C	probably damaging	Het
Adamtsl4	T	C	3: 95,588,230 (GRCm39)	M586V	probably benign	Het
Anapc4	T	C	5: 53,006,118 (GRCm39)	S336P	probably damaging	Het
Atp1a4	A	T	1: 172,054,737 (GRCm39)	I964K	possibly damaging	Het
Bcan	A	T	3: 87,903,453 (GRCm39)	D246E	probably damaging	Het
Ccnf	G	A	17: 24,453,411 (GRCm39)	R343*	probably null	Het
Col6a5	T	C	9: 105,741,404 (GRCm39)	H2505R	probably damaging	Het
Dlg5	T	A	14: 24,242,930 (GRCm39)	M72L	probably damaging	Het
Dnajc18	T	C	18: 35,816,351 (GRCm39)	T196A	probably benign	Het
Dnajc19	T	A	3: 34,112,108 (GRCm39)	I146F	probably benign	Het
Espnl	A	G	1: 91,272,515 (GRCm39)	D581G	probably benign	Het
Fam167a	T	C	14: 63,689,787 (GRCm39)	L28P	probably damaging	Het
Fra10ac1	T	C	19: 38,204,294 (GRCm39)	D94G	probably damaging	Het
Fut8	A	G	12: 77,379,004 (GRCm39)	H35R	probably benign	Het
Gad1-ps	T	A	10: 99,281,188 (GRCm39)		noncoding transcript	Het
Garin2	T	A	12: 78,762,045 (GRCm39)	Y236*	probably null	Het
Idh2	A	T	7: 79,745,853 (GRCm39)	V333E	probably damaging	Het
Inpp5f	A	G	7: 128,265,407 (GRCm39)	I121V	probably benign	Het
Itga1	A	T	13: 115,185,839 (GRCm39)	Y54*	probably null	Het
Lax1	A	G	1: 133,608,321 (GRCm39)	V140A	probably benign	Het
Ncoa6	A	G	2: 155,279,933 (GRCm39)	F28L	probably benign	Het
Or12e10	T	C	2: 87,641,112 (GRCm39)	V316A	probably benign	Het
Or1q1	T	C	2: 36,887,107 (GRCm39)	V95A	probably benign	Het
Polr2a	T	C	11: 69,627,666 (GRCm39)	I1414V	probably benign	Het
Ppp1r14b	A	G	19: 6,954,227 (GRCm39)	E115G	possibly damaging	Het
Prune2	A	G	19: 17,096,032 (GRCm39)	D512G	probably damaging	Het
Pthlh	C	A	6: 147,158,592 (GRCm39)	G123W	probably damaging	Het
Qars1	T	A	9: 108,391,364 (GRCm39)	L572Q	probably damaging	Het
Rubcn	T	C	16: 32,656,828 (GRCm39)	I516V	probably damaging	Het
Sgsm3	A	T	15: 80,892,145 (GRCm39)	S238C	probably damaging	Het
Slc25a22	C	A	7: 141,014,116 (GRCm39)		probably benign	Het
Slc4a1	G	A	11: 102,252,209 (GRCm39)	R5W	probably benign	Het
Tie1	G	A	4: 118,339,959 (GRCm39)	T356I	probably benign	Het
Tnn	A	T	1: 159,972,569 (GRCm39)	H344Q	possibly damaging	Het
Tnrc6c	G	T	11: 117,651,555 (GRCm39)	V1693F	probably benign	Het
Topaz1	C	T	9: 122,619,258 (GRCm39)	T1285M	possibly damaging	Het
Trank1	A	T	9: 111,215,535 (GRCm39)	S1822C	probably damaging	Het
Ttll11	A	C	2: 35,830,745 (GRCm39)	Y209D	probably damaging	Het
Unc45a	C	G	7: 79,978,547 (GRCm39)	A634P	probably benign	Het
Vmn2r4	C	T	3: 64,305,878 (GRCm39)	V515I	possibly damaging	Het

Other mutations in Psmd11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00435:Psmd11	APN	11	80,361,210 (GRCm39)	missense	possibly damaging	0.88
IGL03383:Psmd11	APN	11	80,360,671 (GRCm39)	missense	probably damaging	1.00
R0358:Psmd11	UTSW	11	80,353,510 (GRCm39)	splice site	probably benign
R0529:Psmd11	UTSW	11	80,361,515 (GRCm39)	unclassified	probably benign
R1127:Psmd11	UTSW	11	80,362,410 (GRCm39)	missense	possibly damaging	0.89
R1936:Psmd11	UTSW	11	80,319,570 (GRCm39)	missense	probably damaging	1.00
R1985:Psmd11	UTSW	11	80,336,089 (GRCm39)	missense	probably damaging	1.00
R2356:Psmd11	UTSW	11	80,319,530 (GRCm39)	missense	possibly damaging	0.89
R2994:Psmd11	UTSW	11	80,351,493 (GRCm39)	missense	probably damaging	1.00
R4898:Psmd11	UTSW	11	80,329,146 (GRCm39)	missense	probably damaging	1.00
R5173:Psmd11	UTSW	11	80,351,566 (GRCm39)	missense	probably benign	0.01
R5794:Psmd11	UTSW	11	80,362,318 (GRCm39)	missense	probably benign	0.00
R6169:Psmd11	UTSW	11	80,351,539 (GRCm39)	missense	probably damaging	1.00
R6266:Psmd11	UTSW	11	80,336,767 (GRCm39)	missense	probably benign	0.01
R6275:Psmd11	UTSW	11	80,329,458 (GRCm39)	intron	probably benign
R7121:Psmd11	UTSW	11	80,329,099 (GRCm39)	nonsense	probably null
R7318:Psmd11	UTSW	11	80,347,128 (GRCm39)	missense	probably benign	0.29
R7769:Psmd11	UTSW	11	80,325,408 (GRCm39)	intron	probably benign
R8250:Psmd11	UTSW	11	80,336,752 (GRCm39)	missense	possibly damaging	0.68
R8733:Psmd11	UTSW	11	80,325,342 (GRCm39)	intron	probably benign
R8913:Psmd11	UTSW	11	80,362,338 (GRCm39)	missense	probably damaging	0.99
R9064:Psmd11	UTSW	11	80,336,069 (GRCm39)	missense	probably damaging	0.97
Z1088:Psmd11	UTSW	11	80,362,376 (GRCm39)	frame shift	probably null
Z1176:Psmd11	UTSW	11	80,319,474 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- AGAGAGACTACAACTCCCGG -3'
(R):5'- TAACAACGGCGGGAAATGTC -3'

Sequencing Primer
(F):5'- TACAACTCCCGGGGTGCTC -3'
(R):5'- AAATGTCAGTCCTGCGCG -3'

Posted On

2016-07-06