Mutagenetix > Incidental Mutation

Incidental Mutation 'R2994:Psmd11'

257151

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

040529-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R2994 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80319441-80364074 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80351493 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 239 (Y239H)

Ref Sequence

ENSEMBL: ENSMUSP00000133571 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017572] [ENSMUST00000125591] [ENSMUST00000129500] [ENSMUST00000148895] [ENSMUST00000172773] [ENSMUST00000172847] [ENSMUST00000173938] [ENSMUST00000174743] [ENSMUST00000173186] [ENSMUST00000173565]

AlphaFold

Q8BG32

Predicted Effect

probably damaging
Transcript: ENSMUST00000017572
AA Change: Y239H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000017572
Gene: ENSMUSG00000017428
AA Change: Y239H

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: ENSMUST00000125591

SMART Domains

Protein: ENSMUSP00000134320
Gene: ENSMUSG00000017428

Domain	Start	End	E-Value	Type
Pfam:PCI	21	92	2.1e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129500

SMART Domains

Protein: ENSMUSP00000133452
Gene: ENSMUSG00000017428

Domain	Start	End	E-Value	Type
Blast:PAM	1	68	8e-42	BLAST
PINT	69	140	4.38e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147898

Predicted Effect

probably damaging
Transcript: ENSMUST00000148895
AA Change: Y47H

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

SMART Domains

Protein: ENSMUSP00000134083
Gene: ENSMUSG00000017428
AA Change: Y47H

Domain	Start	End	E-Value	Type
Blast:PAM	1	107	1e-74	BLAST
PINT	108	191	4.34e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000172773

SMART Domains

Protein: ENSMUSP00000134096
Gene: ENSMUSG00000017428

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

SMART Domains

Protein: ENSMUSP00000134136
Gene: ENSMUSG00000017428

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000173938
AA Change: Y239H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133571
Gene: ENSMUSG00000017428
AA Change: Y239H

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: ENSMUST00000173797

SMART Domains

Protein: ENSMUSP00000133739
Gene: ENSMUSG00000017428

Domain	Start	End	E-Value	Type
Blast:PAM	2	58	9e-33	BLAST
PINT	59	142	4.34e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000174743

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 benign
Transcript: ENSMUST00000173060

SMART Domains

Protein: ENSMUSP00000133509
Gene: ENSMUSG00000017428

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.9%

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	C	17: 24,603,538 (GRCm39)	S577P	probably damaging	Het
Agrn	T	C	4: 156,251,785 (GRCm39)	T1826A	possibly damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Btnl6	C	A	17: 34,734,498 (GRCm39)	R88I	possibly damaging	Het
Cfap52	T	A	11: 67,830,617 (GRCm39)	Y281F	probably benign	Het
CK137956	T	C	4: 127,845,300 (GRCm39)	T148A	probably benign	Het
Fpr3	C	T	17: 18,191,130 (GRCm39)	Q134*	probably null	Het
Gbp4	A	T	5: 105,284,886 (GRCm39)	M1K	probably null	Het
Gpsm1	G	A	2: 26,209,843 (GRCm39)		probably benign	Het
Nedd4	A	G	9: 72,638,185 (GRCm39)	D440G	probably benign	Het
Nlgn1	C	T	3: 25,490,162 (GRCm39)	D522N	probably damaging	Het
Oprk1	T	C	1: 5,672,955 (GRCm39)	V364A	probably benign	Het
Or1e35	T	C	11: 73,797,541 (GRCm39)	Y259C	probably damaging	Het
Or5d18	A	G	2: 87,865,301 (GRCm39)	Y61H	probably damaging	Het
Polr1e	T	C	4: 45,027,473 (GRCm39)		probably null	Het
Ripor2	A	T	13: 24,885,610 (GRCm39)	D576V	probably damaging	Het
Rundc3a	C	T	11: 102,291,489 (GRCm39)	T327I	probably damaging	Het
Sh3rf1	A	G	8: 61,825,609 (GRCm39)	T535A	probably benign	Het
Slc13a2	T	A	11: 78,295,563 (GRCm39)	E101V	probably damaging	Het
Tg	A	T	15: 66,553,802 (GRCm39)	T406S	probably benign	Het
Tjp2	T	C	19: 24,090,215 (GRCm39)	E609G	probably damaging	Het
Zfp459	G	A	13: 67,556,853 (GRCm39)	P77S	possibly damaging	Het
Zfp612	A	G	8: 110,816,049 (GRCm39)	K380E	probably damaging	Het
Zfp629	T	C	7: 127,210,228 (GRCm39)	E527G	probably 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
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
R5234:Psmd11	UTSW	11	80,319,566 (GRCm39)	missense	probably benign	0.05
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'- CCTTTTGAATTGGGTCTGTAACTC -3'
(R):5'- ACCTCTAGTGGCCAAACTCC -3'

Sequencing Primer
(F):5'- CTAGACACCTGGGGTTCTAATGC -3'
(R):5'- AAACTCCCCGCCTGAGC -3'

Posted On

2015-01-11