Mutagenetix > Incidental Mutation

Incidental Mutation 'R8004:Psmd9'

616507

Institutional Source

Beutler Lab

Gene Symbol

Psmd9

Ensembl Gene

ENSMUSG00000029440

Gene Name

proteasome (prosome, macropain) 26S subunit, non-ATPase, 9

Synonyms

P27, Bridge-1, 1500011J20Rik

MMRRC Submission

046044-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.151) question?

Stock #

R8004 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

123366253-123388189 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 123379998 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000098295 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100729] [ENSMUST00000197809] [ENSMUST00000198183]

AlphaFold

Q9CR00

Predicted Effect

probably null
Transcript: ENSMUST00000100729

SMART Domains

Protein: ENSMUSP00000098295
Gene: ENSMUSG00000029440

Domain	Start	End	E-Value	Type
low complexity region	9	19	N/A	INTRINSIC
Blast:PDZ	20	58	7e-7	BLAST
PDB:3WHL\|H	23	99	2e-12	PDB
PDZ	121	195	5.02e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000197809

SMART Domains

Protein: ENSMUSP00000143635
Gene: ENSMUSG00000029440

Domain	Start	End	E-Value	Type
PDB:3WHL\|H	1	53	9e-8	PDB
PDZ	75	148	1.5e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000198183

SMART Domains

Protein: ENSMUSP00000142433
Gene: ENSMUSG00000029440

Domain	Start	End	E-Value	Type
Blast:PDZ	1	45	6e-16	BLAST

Meta Mutation Damage Score

0.9518

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (61/61)

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. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, May 2012]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	T	A	1: 12,021,286 (GRCm39)		probably benign	Het
Abcb11	T	A	2: 69,087,554 (GRCm39)	K1070N	possibly damaging	Het
Ankrd24	T	A	10: 81,474,191 (GRCm39)	N179K	unknown	Het
Atp6v0a4	A	T	6: 38,027,484 (GRCm39)	F775L	possibly damaging	Het
Bbs2	A	G	8: 94,809,118 (GRCm39)	V269A	possibly damaging	Het
Bpifc	T	G	10: 85,815,148 (GRCm39)	S273R	probably benign	Het
Cdan1	C	T	2: 120,561,924 (GRCm39)	R20Q	unknown	Het
Cfap251	T	C	5: 123,392,513 (GRCm39)	W216R	unknown	Het
Chrm2	T	A	6: 36,500,221 (GRCm39)	I26N	probably damaging	Het
Cngb3	A	G	4: 19,505,273 (GRCm39)	K669E	possibly damaging	Het
Cnot1	T	C	8: 96,479,380 (GRCm39)	I876V	probably benign	Het
Col12a1	T	A	9: 79,591,683 (GRCm39)	T926S	probably damaging	Het
Cyp2b23	G	T	7: 26,378,891 (GRCm39)	T191K	probably benign	Het
Dipk1a	T	C	5: 108,057,532 (GRCm39)	D342G	probably damaging	Het
Dpp4	A	G	2: 62,189,172 (GRCm39)	V453A	probably benign	Het
Eif2ak4	T	C	2: 118,247,775 (GRCm39)	S271P	possibly damaging	Het
Fbxw20	G	T	9: 109,050,449 (GRCm39)	P392H	probably damaging	Het
Fcho2	T	A	13: 98,926,013 (GRCm39)	E118V	possibly damaging	Het
Gm2042	C	G	12: 87,926,921 (GRCm39)	Q413E	possibly damaging	Het
Gm904	G	A	13: 50,799,343 (GRCm39)		probably null	Het
H2-D1	A	G	17: 35,485,672 (GRCm39)	S352G	probably benign	Het
Igf2bp3	C	A	6: 49,067,954 (GRCm39)	V451L	probably benign	Het
Igkv1-99	T	C	6: 68,519,112 (GRCm39)	V23A		Het
Igsf10	A	G	3: 59,237,130 (GRCm39)	I1017T	probably benign	Het
Il18r1	G	A	1: 40,513,917 (GRCm39)	C41Y	probably damaging	Het
Itgb4	A	G	11: 115,873,531 (GRCm39)	D249G	probably benign	Het
Ldlrad1	G	A	4: 107,066,688 (GRCm39)	A8T	probably benign	Het
Lrrn2	T	A	1: 132,865,489 (GRCm39)	F185I	probably damaging	Het
Mllt6	G	T	11: 97,566,966 (GRCm39)	E635D	possibly damaging	Het
Msh6	A	G	17: 88,294,215 (GRCm39)	E990G	probably damaging	Het
Myo1h	A	T	5: 114,458,769 (GRCm39)	D184V		Het
Nfatc2ip	A	G	7: 125,989,577 (GRCm39)	V269A	possibly damaging	Het
Nfkb1	C	A	3: 135,297,312 (GRCm39)		probably benign	Het
Nol12	A	T	15: 78,824,717 (GRCm39)	K181N	probably damaging	Het
Npl	T	A	1: 153,379,286 (GRCm39)	T266S	probably benign	Het
Oog2	A	T	4: 143,920,821 (GRCm39)	I85L	probably benign	Het
Or5k3	T	A	16: 58,969,351 (GRCm39)	V46E	probably damaging	Het
Or7e171-ps1	A	T	9: 19,853,408 (GRCm39)	D109E	possibly damaging	Het
Parm1	A	C	5: 91,742,132 (GRCm39)	S167R	probably benign	Het
Pcsk4	T	C	10: 80,158,674 (GRCm39)	D526G	probably damaging	Het
Plscr4	C	T	9: 92,372,843 (GRCm39)	R322*	probably null	Het
Ralgapa1	A	G	12: 55,749,242 (GRCm39)	V1220A	probably damaging	Het
Rbm25	A	T	12: 83,721,166 (GRCm39)	E577D	possibly damaging	Het
Rbm44	T	A	1: 91,079,880 (GRCm39)		probably benign	Het
S100a6	T	C	3: 90,521,119 (GRCm39)	F16L	probably benign	Het
Sar1a	C	A	10: 61,520,945 (GRCm39)	H53Q	probably benign	Het
Setd2	G	A	9: 110,421,613 (GRCm39)	A282T		Het
Slc35f5	A	T	1: 125,517,624 (GRCm39)	H474L	probably damaging	Het
Slc4a3	T	C	1: 75,525,711 (GRCm39)		probably null	Het
Smc1b	G	A	15: 84,981,815 (GRCm39)	S735F	probably damaging	Het
Sp3	A	T	2: 72,800,552 (GRCm39)	I531K	possibly damaging	Het
St6galnac5	A	T	3: 152,545,802 (GRCm39)	M252K	probably damaging	Het
Tas2r120	T	A	6: 132,634,390 (GRCm39)	H157Q	possibly damaging	Het
Tbc1d10b	T	A	7: 126,798,183 (GRCm39)	S653C	probably damaging	Het
Tex10	T	C	4: 48,452,047 (GRCm39)	E693G	possibly damaging	Het
Thada	A	G	17: 84,499,633 (GRCm39)	S1855P	probably benign	Het
Tjp2	G	A	19: 24,091,484 (GRCm39)	P559L	probably damaging	Het
Tmem184b	A	G	15: 79,246,966 (GRCm39)	S368P	probably damaging	Het
Tnc	G	A	4: 63,902,894 (GRCm39)	S1461L	probably benign	Het
Tnpo2	T	C	8: 85,771,328 (GRCm39)	F177S	probably benign	Het
Vmn1r58	A	T	7: 5,413,506 (GRCm39)	Y241*	probably null	Het

Other mutations in Psmd9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01976:Psmd9	APN	5	123,372,697 (GRCm39)	missense	probably damaging	0.99
IGL02354:Psmd9	APN	5	123,386,379 (GRCm39)	missense	probably damaging	1.00
IGL02361:Psmd9	APN	5	123,386,379 (GRCm39)	missense	probably damaging	1.00
IGL02947:Psmd9	APN	5	123,384,278 (GRCm39)	missense	probably benign	0.01
R0318:Psmd9	UTSW	5	123,372,712 (GRCm39)	missense	possibly damaging	0.58
R1491:Psmd9	UTSW	5	123,366,410 (GRCm39)	missense	probably benign
R1598:Psmd9	UTSW	5	123,379,980 (GRCm39)	missense	probably damaging	1.00
R2024:Psmd9	UTSW	5	123,379,925 (GRCm39)	missense	probably damaging	1.00
R3811:Psmd9	UTSW	5	123,372,653 (GRCm39)	unclassified	probably benign
R3816:Psmd9	UTSW	5	123,372,653 (GRCm39)	unclassified	probably benign
R3879:Psmd9	UTSW	5	123,372,653 (GRCm39)	unclassified	probably benign
R3880:Psmd9	UTSW	5	123,372,653 (GRCm39)	unclassified	probably benign
R8143:Psmd9	UTSW	5	123,366,479 (GRCm39)	missense	probably damaging	1.00
R9337:Psmd9	UTSW	5	123,386,387 (GRCm39)	missense	probably damaging	1.00
R9758:Psmd9	UTSW	5	123,372,745 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTAGATTAAGCGGTACAAATGACC -3'
(R):5'- AGCTTCTGGGCCGGAAAATC -3'

Sequencing Primer
(F):5'- GGTACAAATGACCAGAAAATGCATC -3'
(R):5'- TCTCATACTGAAAGGCTGGC -3'

Posted On

2020-01-23