Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03023:Psmc4'

408037

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Psmc4

Ensembl Gene

ENSMUSG00000030603

Gene Name

proteasome (prosome, macropain) 26S subunit, ATPase, 4

Synonyms

MIP224, CAR interacting protein 21, CIP21

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03023

Quality Score

Status

Chromosome

Chromosomal Location

27741127-27749517 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 27742285 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 264 (I264L)

Ref Sequence

ENSEMBL: ENSMUSP00000032824 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032824] [ENSMUST00000140053]

AlphaFold

P54775

PDB Structure

Structure of Gankyrin-S6ATPase photo-cross-linked site-specifically, and incoporated by genetic code expansion [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032824
AA Change: I264L

PolyPhen 2 Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000032824
Gene: ENSMUSG00000030603
AA Change: I264L

Domain	Start	End	E-Value	Type
low complexity region	47	59	N/A	INTRINSIC
Blast:AAA	96	156	2e-31	BLAST
AAA	198	337	2.6e-24	SMART
Blast:AAA	368	418	7e-11	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126528

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134486

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135482

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138512

Predicted Effect

probably benign
Transcript: ENSMUST00000140053
AA Change: I233L

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)

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 triple-A family of ATPases that is a component of the 19S regulatory subunit and plays a role in 26S proteasome assembly. The encoded protein interacts with gankyrin, a liver oncoprotein, and may also play a role in Parkinson's disease through interactions with synphilin-1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for disruptions in this gene die as embryos. Mice heterozygous for a knock-out allele and a conditional allele activated in motor neurons develop ALS-like symptoms. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd18	A	G	3: 40,859,419 (GRCm39)	D28G	probably damaging	Het
Btaf1	C	T	19: 36,987,415 (GRCm39)	R1746C	possibly damaging	Het
Comp	T	C	8: 70,831,260 (GRCm39)		probably benign	Het
Cspg4b	A	G	13: 113,488,275 (GRCm39)	D99G	probably benign	Het
Cyp2d9	A	G	15: 82,339,719 (GRCm39)	T313A	probably damaging	Het
Cyp3a59	T	A	5: 146,022,660 (GRCm39)	D55E	probably benign	Het
Dysf	A	G	6: 84,169,989 (GRCm39)	Y1790C	probably damaging	Het
Fmo3	A	C	1: 162,786,034 (GRCm39)	F319V	probably benign	Het
Frem2	A	T	3: 53,563,049 (GRCm39)	V486D	probably benign	Het
Gucy2c	A	T	6: 136,679,794 (GRCm39)		probably null	Het
Hdac7	A	T	15: 97,695,838 (GRCm39)	Y674N	probably damaging	Het
Inpp5a	G	A	7: 139,105,702 (GRCm39)		probably null	Het
Jup	T	C	11: 100,271,518 (GRCm39)		probably benign	Het
Krt84	T	C	15: 101,436,880 (GRCm39)	T385A	possibly damaging	Het
Nbeal1	T	C	1: 60,292,572 (GRCm39)	Y1075H	probably damaging	Het
Nphp4	A	G	4: 152,608,692 (GRCm39)		probably null	Het
Or10ak11	A	T	4: 118,687,449 (GRCm39)	F63I	probably damaging	Het
Or12d17	A	G	17: 37,777,885 (GRCm39)	T263A	probably benign	Het
Or4p7	G	A	2: 88,221,687 (GRCm39)	C32Y	probably damaging	Het
Rwdd4a	T	C	8: 47,995,803 (GRCm39)	V61A	probably benign	Het
Setx	A	G	2: 29,035,914 (GRCm39)	T800A	probably benign	Het
Vmn1r74	T	C	7: 11,581,257 (GRCm39)	C186R	possibly damaging	Het
Vsig2	A	G	9: 37,453,708 (GRCm39)	Y136C	probably damaging	Het

Other mutations in Psmc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03054:Psmc4	UTSW	7	27,746,605 (GRCm39)	missense	probably damaging	1.00
R0117:Psmc4	UTSW	7	27,742,165 (GRCm39)	splice site	probably benign
R0725:Psmc4	UTSW	7	27,748,287 (GRCm39)	missense	probably benign
R1371:Psmc4	UTSW	7	27,742,222 (GRCm39)	splice site	probably benign
R2063:Psmc4	UTSW	7	27,748,322 (GRCm39)	missense	probably damaging	0.97
R4833:Psmc4	UTSW	7	27,746,937 (GRCm39)	missense	probably damaging	1.00
R5942:Psmc4	UTSW	7	27,746,480 (GRCm39)	missense	probably damaging	1.00
R7307:Psmc4	UTSW	7	27,742,085 (GRCm39)	missense	probably benign	0.02

Posted On

2016-08-02