Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03383:Psmd11'

420762

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.961) question?

Stock #

IGL03383

Quality Score

Status

Chromosome

Chromosomal Location

80428615-80473248 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80469845 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 56 (I56T)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000017572
AA Change: I319T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000017572
Gene: ENSMUSG00000017428
AA Change: I319T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000125591
AA Change: I55T

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134320
Gene: ENSMUSG00000017428
AA Change: I55T

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000129500
AA Change: I67T

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000133452
Gene: ENSMUSG00000017428
AA Change: I67T

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

possibly damaging
Transcript: ENSMUST00000148895
AA Change: I106T

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000134083
Gene: ENSMUSG00000017428
AA Change: I106T

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: 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: ENSMUST00000173797
AA Change: I56T

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

SMART Domains

Protein: ENSMUSP00000133739
Gene: ENSMUSG00000017428
AA Change: I56T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000173938
AA Change: I319T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000133571
Gene: ENSMUSG00000017428
AA Change: I319T

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

Coding Region Coverage

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl4	C	T	4: 111,657,423		probably benign	Het
Cit	T	C	5: 115,873,845		probably benign	Het
Clmp	A	G	9: 40,774,441	N211S	probably damaging	Het
Cnot2	A	G	10: 116,494,817		probably benign	Het
Cntn6	A	G	6: 104,776,457		probably benign	Het
Dnajb9	C	T	12: 44,208,313		probably benign	Het
Ece2	T	A	16: 20,633,097	N411K	possibly damaging	Het
Fam208a	A	G	14: 27,441,961	I235V	possibly damaging	Het
Fshr	A	G	17: 89,046,699	I77T	possibly damaging	Het
Fshr	A	G	17: 88,985,693	M519T	probably damaging	Het
Gm10654	G	A	8: 70,932,131		noncoding transcript	Het
Gm5093	A	G	17: 46,439,591	I170T	probably benign	Het
Meis3	A	G	7: 16,183,819	K299R	probably damaging	Het
Nxf1	T	C	19: 8,763,697	F15L	probably damaging	Het
Nxpe3	T	C	16: 55,849,713	D343G	probably benign	Het
Olfr1246	A	T	2: 89,590,312	Y268N	probably benign	Het
Polr3k	A	G	2: 181,866,027	T65A	probably damaging	Het
Preb	A	T	5: 30,958,321	W222R	probably damaging	Het
Rtkn2	A	G	10: 68,017,837	T232A	probably damaging	Het
Scaf11	T	C	15: 96,420,183		probably null	Het
Slc4a10	A	T	2: 62,267,436	K493M	probably damaging	Het
Stard10	A	G	7: 101,342,570	K112E	probably damaging	Het
Sugp1	A	T	8: 70,069,567		probably benign	Het
Tmem156	T	C	5: 65,075,697	E139G	probably damaging	Het
Tubd1	C	T	11: 86,549,008		probably benign	Het
Uap1	G	A	1: 170,158,891	T174M	probably damaging	Het
Vmn2r13	T	C	5: 109,156,532	T678A	probably damaging	Het
Vmn2r84	A	T	10: 130,386,687	C555S	probably damaging	Het
Vps13d	T	C	4: 145,168,319		probably null	Het
Vps8	T	C	16: 21,435,823		probably null	Het
Wee1	A	G	7: 110,139,692	N590S	probably damaging	Het
Zfp112	C	A	7: 24,125,678	S357Y	probably damaging	Het
Zfp423	T	A	8: 87,859,452	K48*	probably null	Het
Zscan4d	A	G	7: 11,162,765	V226A	probably benign	Het

Other mutations in Psmd11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00435:Psmd11	APN	11	80470384	missense	possibly damaging	0.88
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
R7121:Psmd11	UTSW	11	80438273	nonsense	probably null
R7318:Psmd11	UTSW	11	80456302	missense	probably benign	0.29
Z1088:Psmd11	UTSW	11	80471550	frame shift	probably null
Z1176:Psmd11	UTSW	11	80428648	unclassified	probably benign

Posted On

2016-08-02