Mutagenetix > Incidental Mutation

Incidental Mutation 'R4237:Psmd8'

321166

Institutional Source

Beutler Lab

Gene Symbol

Psmd8

Ensembl Gene

ENSMUSG00000030591

Gene Name

proteasome (prosome, macropain) 26S subunit, non-ATPase, 8

Synonyms

C76433, 6720456J22Rik

MMRRC Submission

041054-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.950) question?

Stock #

R4237 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28873612-28880098 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 28876546 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 155 (P155L)

Ref Sequence

ENSEMBL: ENSMUSP00000146882 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033886] [ENSMUST00000047846] [ENSMUST00000059642] [ENSMUST00000098609] [ENSMUST00000163782] [ENSMUST00000186182] [ENSMUST00000182328] [ENSMUST00000209034] [ENSMUST00000208330] [ENSMUST00000209019] [ENSMUST00000208288] [ENSMUST00000169143]

AlphaFold

Q9CX56

Predicted Effect

probably benign
Transcript: ENSMUST00000033886

SMART Domains

Protein: ENSMUSP00000033886
Gene: ENSMUSG00000031493

Domain	Start	End	E-Value	Type
low complexity region	42	61	N/A	INTRINSIC
low complexity region	84	94	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000047846

SMART Domains

Protein: ENSMUSP00000045233
Gene: ENSMUSG00000049676

Domain	Start	End	E-Value	Type
Pfam:CATSPERG	1	920	N/A	PFAM
transmembrane domain	1012	1034	N/A	INTRINSIC
low complexity region	1058	1073	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000059642
AA Change: P219L

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000051657
Gene: ENSMUSG00000030591
AA Change: P219L

Domain	Start	End	E-Value	Type
low complexity region	11	23	N/A	INTRINSIC
low complexity region	60	82	N/A	INTRINSIC
low complexity region	117	129	N/A	INTRINSIC
Pfam:CSN8_PSD8_EIF3K	189	330	1.2e-40	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000085819

Predicted Effect

probably benign
Transcript: ENSMUST00000098609

SMART Domains

Protein: ENSMUSP00000096209
Gene: ENSMUSG00000031493

Domain	Start	End	E-Value	Type
Pfam:GGN	38	342	2.1e-158	PFAM
Pfam:GGN	340	709	1.5e-165	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163782

SMART Domains

Protein: ENSMUSP00000127409
Gene: ENSMUSG00000049676

Domain	Start	End	E-Value	Type
Pfam:CATSPERG	1	93	1.7e-52	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166419

Predicted Effect

probably damaging
Transcript: ENSMUST00000186182
AA Change: P219L

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139514
Gene: ENSMUSG00000030591
AA Change: P219L

Domain	Start	End	E-Value	Type
low complexity region	11	23	N/A	INTRINSIC
low complexity region	60	82	N/A	INTRINSIC
Pfam:SAC3_GANP	113	296	1.3e-37	PFAM
Pfam:PCI_Csn8	189	330	2.3e-42	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000182328
AA Change: P155L

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000138613
Gene: ENSMUSG00000030591
AA Change: P155L

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
Pfam:SAC3_GANP	49	232	1.2e-37	PFAM
Pfam:PCI_Csn8	125	266	4.1e-42	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000209034
AA Change: P155L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207087

Predicted Effect

probably benign
Transcript: ENSMUST00000208330

Predicted Effect

probably benign
Transcript: ENSMUST00000209019

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208461

Predicted Effect

probably benign
Transcript: ENSMUST00000208288

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208592

Predicted Effect

probably benign
Transcript: ENSMUST00000169143

SMART Domains

Protein: ENSMUSP00000129837
Gene: ENSMUSG00000049676

Domain	Start	End	E-Value	Type
Pfam:CATSPERG	2	973	N/A	PFAM
transmembrane domain	1065	1087	N/A	INTRINSIC
low complexity region	1111	1126	N/A	INTRINSIC

Meta Mutation Damage Score

0.5999

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

100% (44/44)

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. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. A pseudogene has been identified on chromosome 1. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	T	C	9: 55,888,126 (GRCm39)	D397G	probably benign	Het
6820408C15Rik	C	T	2: 152,270,873 (GRCm39)	T32I	possibly damaging	Het
Abca13	A	G	11: 9,384,188 (GRCm39)	K3880R	probably benign	Het
Ahnak	C	T	19: 8,979,147 (GRCm39)	L144F	probably benign	Het
Antxr2	A	T	5: 98,086,266 (GRCm39)	I447N	probably damaging	Het
Cdc20	C	T	4: 118,290,257 (GRCm39)	R468Q	probably damaging	Het
Clip2	A	G	5: 134,564,051 (GRCm39)		probably benign	Het
Cntnap2	A	T	6: 46,507,324 (GRCm39)		probably benign	Het
Ddi1	A	G	9: 6,265,799 (GRCm39)	M190T	probably benign	Het
Dicer1	A	G	12: 104,695,487 (GRCm39)	V148A	possibly damaging	Het
Dpp8	A	G	9: 64,962,205 (GRCm39)	D415G	probably benign	Het
Galnt11	G	A	5: 25,470,258 (GRCm39)	R569Q	probably benign	Het
Gpr6	T	C	10: 40,946,604 (GRCm39)	N326S	probably damaging	Het
Hexb	T	C	13: 97,313,259 (GRCm39)		probably benign	Het
Ighv3-4	A	T	12: 114,217,533 (GRCm39)	D19E	probably benign	Het
L3mbtl3	G	A	10: 26,216,846 (GRCm39)	A181V	unknown	Het
Lrrc37a	G	A	11: 103,393,115 (GRCm39)	T770I	probably damaging	Het
Or12e8	T	C	2: 87,188,597 (GRCm39)	S270P	probably damaging	Het
Or2d2	A	G	7: 106,728,244 (GRCm39)	S119P	probably damaging	Het
Or6a2	T	C	7: 106,600,536 (GRCm39)	N177S	probably damaging	Het
Or7g32	C	T	9: 19,388,893 (GRCm39)	V215I	probably benign	Het
Phactr1	T	A	13: 43,248,363 (GRCm39)	N437K	possibly damaging	Het
Ppp1r13b	T	C	12: 111,805,170 (GRCm39)	T181A	probably benign	Het
Prc1	G	A	7: 79,960,964 (GRCm39)		probably benign	Het
Proca1	A	G	11: 78,095,752 (GRCm39)	N128S	probably benign	Het
Rad54l	A	G	4: 115,956,646 (GRCm39)	V500A	probably damaging	Het
Scamp3	G	A	3: 89,089,234 (GRCm39)		probably null	Het
Serpinb10	C	T	1: 107,466,179 (GRCm39)	T55M	probably benign	Het
Sipa1l2	T	C	8: 126,218,395 (GRCm39)	E314G	probably benign	Het
Slc14a2	G	A	18: 78,250,283 (GRCm39)	R62C	probably damaging	Het
Tdrd9	C	T	12: 112,034,059 (GRCm39)	R1334*	probably null	Het
Trank1	A	G	9: 111,196,103 (GRCm39)	I1376V	probably benign	Het
Trim28	T	A	7: 12,761,838 (GRCm39)	H268Q	possibly damaging	Het
Vmn2r76	T	A	7: 85,879,740 (GRCm39)	I187L	probably benign	Het
Wdr95	A	T	5: 149,486,802 (GRCm39)	R160*	probably null	Het
Wnt5a	T	C	14: 28,244,823 (GRCm39)	C357R	probably damaging	Het
Zfp157	A	G	5: 138,445,803 (GRCm39)	I53V	probably damaging	Het
Zfp184	G	A	13: 22,142,948 (GRCm39)	R218H	probably damaging	Het

Other mutations in Psmd8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01529:Psmd8	APN	7	28,878,576 (GRCm39)	missense	probably damaging	0.99
R0427:Psmd8	UTSW	7	28,875,552 (GRCm39)	missense	probably damaging	1.00
R1175:Psmd8	UTSW	7	28,875,598 (GRCm39)	missense	probably damaging	1.00
R1180:Psmd8	UTSW	7	28,874,825 (GRCm39)	missense	probably benign	0.00
R7749:Psmd8	UTSW	7	28,878,346 (GRCm39)	splice site	probably null
R8052:Psmd8	UTSW	7	28,880,001 (GRCm39)	missense	probably benign
Z1186:Psmd8	UTSW	7	28,879,808 (GRCm39)	missense	probably benign
Z1186:Psmd8	UTSW	7	28,879,745 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCCTGGCACATATATGTTTTGC -3'
(R):5'- CTTGGTTAGCTCCCCAGTAC -3'

Sequencing Primer
(F):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
(R):5'- CCCAGTACCTGTTAACTGTGG -3'

Posted On

2015-06-12