Mutagenetix > Incidental Mutation

Incidental Mutation 'R5942:Psmc4'

460343

Institutional Source

Beutler Lab

Gene Symbol

Psmc4

Ensembl Gene

ENSMUSG00000030603

Gene Name

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

Synonyms

MIP224, CAR interacting protein 21, CIP21

MMRRC Submission

044134-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5942 (G1)

Quality Score

218

Status

Not validated

Chromosome

Chromosomal Location

27741127-27749517 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 27746480 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 202 (V202I)

Ref Sequence

ENSEMBL: ENSMUSP00000032824 (fasta)

Gene Model

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

probably damaging
Transcript: ENSMUST00000032824
AA Change: V202I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000032824
Gene: ENSMUSG00000030603
AA Change: V202I

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

probably damaging
Transcript: ENSMUST00000032824
AA Change: V202I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000032824
Gene: ENSMUSG00000030603
AA Change: V202I

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

possibly damaging
Transcript: ENSMUST00000140053
AA Change: V171I

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000140053
AA Change: V171I

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 99.8%
3x: 99.3%
10x: 96.7%
20x: 89.5%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	C	T	17: 46,623,333 (GRCm39)	V860M	probably benign	Het
Accs	A	T	2: 93,666,392 (GRCm39)	L432M	probably damaging	Het
Actrt3	T	A	3: 30,652,813 (GRCm39)	N94Y	possibly damaging	Het
Adamts18	T	C	8: 114,504,380 (GRCm39)	Q80R	probably benign	Het
Ccr8	G	T	9: 119,923,772 (GRCm39)	V296F	probably damaging	Het
Cep170	T	A	1: 176,583,985 (GRCm39)	E798V	probably damaging	Het
Cttnbp2	T	A	6: 18,448,439 (GRCm39)	E73D	probably damaging	Het
Cyp2a4	A	T	7: 26,010,129 (GRCm39)		probably null	Het
Dync2h1	A	T	9: 7,117,466 (GRCm39)	Y41*	probably null	Het
Enc1	G	A	13: 97,382,887 (GRCm39)	D466N	probably benign	Het
Enpp1	C	A	10: 24,551,966 (GRCm39)	E138*	probably null	Het
Entrep1	A	G	19: 23,963,834 (GRCm39)	V245A	probably damaging	Het
Ezh2	T	C	6: 47,554,516 (GRCm39)	R27G	possibly damaging	Het
Fut10	A	G	8: 31,691,485 (GRCm39)	N110S	possibly damaging	Het
Glt1d1	A	T	5: 127,721,534 (GRCm39)		probably null	Het
Gm14393	G	A	2: 174,903,689 (GRCm39)	Q73*	probably null	Het
Gpr156	C	T	16: 37,825,264 (GRCm39)	P494S	probably benign	Het
Has2	T	A	15: 56,531,192 (GRCm39)	K508*	probably null	Het
Hc	A	T	2: 34,918,137 (GRCm39)	C715*	probably null	Het
Hook2	C	T	8: 85,721,409 (GRCm39)		probably null	Het
Klhdc7b	A	C	15: 89,271,634 (GRCm39)	I839L	probably benign	Het
Kndc1	T	C	7: 139,516,792 (GRCm39)	L1584P	probably damaging	Het
Lamp1	T	C	8: 13,223,941 (GRCm39)	F358L	probably damaging	Het
Man2a1	A	G	17: 64,932,375 (GRCm39)	K154R	probably benign	Het
Mga	A	G	2: 119,777,440 (GRCm39)	I1871V	probably benign	Het
Mgmt	T	A	7: 136,723,219 (GRCm39)	D96E	probably benign	Het
Morc2a	C	A	11: 3,629,936 (GRCm39)	T424K	probably damaging	Het
Myo1g	A	G	11: 6,464,888 (GRCm39)	L462P	probably damaging	Het
Ncaph	C	A	2: 126,958,608 (GRCm39)		probably null	Het
Nlrc3	A	T	16: 3,767,293 (GRCm39)	D969E	probably damaging	Het
Nt5c3	A	T	6: 56,874,839 (GRCm39)		probably null	Het
Or4c12b	G	T	2: 89,646,684 (GRCm39)	E5*	probably null	Het
Or5ac15	A	T	16: 58,940,039 (GRCm39)	Y131*	probably null	Het
Or5d41	A	C	2: 88,054,916 (GRCm39)	I153M	probably benign	Het
Or8h8	T	C	2: 86,753,750 (GRCm39)	N42S	probably damaging	Het
Parp14	C	A	16: 35,659,737 (GRCm39)	M1628I	probably damaging	Het
Parp8	G	T	13: 117,005,969 (GRCm39)	P693Q	probably benign	Het
Parp9	A	G	16: 35,792,259 (GRCm39)	D485G	possibly damaging	Het
Pcdha1	T	A	18: 37,063,444 (GRCm39)	V36D	probably damaging	Het
Pcdhb5	C	T	18: 37,453,838 (GRCm39)	Q73*	probably null	Het
Pecam1	G	T	11: 106,552,809 (GRCm39)		probably benign	Het
Pex1	A	G	5: 3,660,277 (GRCm39)	I527V	probably benign	Het
Phf11	G	A	14: 59,497,593 (GRCm39)	P13S	probably benign	Het
Ppp4r4	T	A	12: 103,553,706 (GRCm39)	V388D	possibly damaging	Het
Ptx3	T	G	3: 66,127,484 (GRCm39)	M1R	probably null	Het
Rimbp3	A	G	16: 17,029,752 (GRCm39)	T1059A	probably benign	Het
Rmdn3	G	A	2: 118,978,058 (GRCm39)	A181V	probably damaging	Het
Rnase10	A	T	14: 51,246,735 (GRCm39)	M38L	probably benign	Het
Sec16b	T	A	1: 157,358,920 (GRCm39)	Y118N	probably damaging	Het
Sigmar1	T	C	4: 41,741,159 (GRCm39)	T32A	probably benign	Het
Srcap	A	G	7: 127,137,180 (GRCm39)	D954G	probably damaging	Het
Tfrc	A	G	16: 32,445,533 (GRCm39)	N618S	possibly damaging	Het
Tnrc6a	A	G	7: 122,785,888 (GRCm39)	D1028G	probably damaging	Het
Tns3	A	T	11: 8,385,860 (GRCm39)	D1379E	probably damaging	Het
Ttn	A	T	2: 76,580,505 (GRCm39)	C23463S	possibly damaging	Het
Ufl1	T	C	4: 25,250,619 (GRCm39)	T745A	probably benign	Het
Vmn1r231	T	A	17: 21,110,417 (GRCm39)	Y166F	possibly damaging	Het
Wbp1l	C	A	19: 46,642,869 (GRCm39)	T290K	probably damaging	Het
Wdr25	A	G	12: 108,864,392 (GRCm39)	N179S	probably benign	Het
Wdr62	G	A	7: 29,942,504 (GRCm39)	Q1035*	probably null	Het
Yif1a	C	T	19: 5,141,669 (GRCm39)	R196C	probably damaging	Het
Zfp352	A	T	4: 90,113,307 (GRCm39)	K482N	probably damaging	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het

Other mutations in Psmc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03023:Psmc4	APN	7	27,742,285 (GRCm39)	missense	possibly damaging	0.85
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
R7307:Psmc4	UTSW	7	27,742,085 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GGTCCCAGAGCCTCTATTTAC -3'
(R):5'- AGCCAGATGTGATGTATGCC -3'

Sequencing Primer
(F):5'- GTCCCAGAGCCTCTATTTACAGACAC -3'
(R):5'- AGCCAGATGTGATGTATGCCGATATC -3'

Posted On

2017-02-28