Mutagenetix > Incidental Mutations

Incidental Mutation 'R8250:Psmd11'

640294

Institutional Source

Beutler Lab

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

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R8250 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80428615-80473248 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80445926 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 135 (S135P)

Ref Sequence

ENSEMBL: ENSMUSP00000017572 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017572] [ENSMUST00000172615] [ENSMUST00000172773] [ENSMUST00000172847] [ENSMUST00000173186] [ENSMUST00000173565] [ENSMUST00000173938] [ENSMUST00000174743]

AlphaFold

Q8BG32

Predicted Effect

possibly damaging
Transcript: ENSMUST00000017572
AA Change: S135P

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000017572
Gene: ENSMUSG00000017428
AA Change: S135P

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: ENSMUST00000172615

SMART Domains

Protein: ENSMUSP00000134129
Gene: ENSMUSG00000017428

Domain	Start	End	E-Value	Type
PDB:3TXN\|A	37	106	1e-22	PDB
Blast:PAM	83	106	2e-6	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000172773

SMART Domains

Protein: ENSMUSP00000134096
Gene: ENSMUSG00000017428

Domain	Start	End	E-Value	Type
PDB:3TXN\|A	37	110	7e-24	PDB
Blast:PAM	83	110	1e-7	BLAST

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 benign
Transcript: ENSMUST00000173060

SMART Domains

Protein: ENSMUSP00000133509
Gene: ENSMUSG00000017428

Domain	Start	End	E-Value	Type
PDB:3TXN\|A	29	98	2e-22	PDB
Blast:PAM	75	98	1e-6	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000173186

Predicted Effect

possibly damaging
Transcript: ENSMUST00000173565
AA Change: S37P

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000134326
Gene: ENSMUSG00000017428
AA Change: S37P

Domain	Start	End	E-Value	Type
PDB:3TXN\|A	1	114	2e-50	PDB
Blast:PAM	45	114	3e-31	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000173938
AA Change: S135P

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000133571
Gene: ENSMUSG00000017428
AA Change: S135P

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

Predicted Effect

unknown
Transcript: ENSMUST00000174743
AA Change: V86A

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

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 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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	C	3: 36,917,662	S515P	probably damaging	Het
Adamtsl1	A	T	4: 86,342,609	E1027V	probably damaging	Het
Adrbk1	A	G	19: 4,289,934	F375S	probably damaging	Het
Agbl2	G	A	2: 90,797,564	G238R	probably damaging	Het
Ccdc27	A	T	4: 154,041,788	D81E	unknown	Het
Csrnp3	A	G	2: 66,022,218	E330G	probably damaging	Het
Dcp1a	A	G	14: 30,522,926	T570A	possibly damaging	Het
Fat1	A	G	8: 44,953,299	N1029S	probably damaging	Het
Ftcd	T	G	10: 76,581,627	I300R	probably damaging	Het
Fxr1	T	A	3: 34,047,029	Y161*	probably null	Het
Gabrg2	C	T	11: 41,967,552	V250I	probably benign	Het
Gmcl1	T	C	6: 86,721,402	D171G	possibly damaging	Het
Kat2b	T	A	17: 53,663,536	I650N	probably damaging	Het
Lhfp	T	C	3: 53,043,338	I11T	probably benign	Het
Mbtd1	A	G	11: 93,910,350	Y141C	probably damaging	Het
Mon1b	A	T	8: 113,639,719	E449V	probably damaging	Het
Mrpl47	T	C	3: 32,731,233	N112S	probably damaging	Het
Myo9a	T	A	9: 59,860,109	H865Q	probably damaging	Het
Notch3	T	C	17: 32,132,336	N1895S	probably damaging	Het
Nuggc	A	G	14: 65,641,869	I693V	probably benign	Het
Oip5	A	G	2: 119,615,629	S133P	probably benign	Het
Olfr1051	T	C	2: 86,276,154	E111G	probably damaging	Het
Olfr1420	A	T	19: 11,896,377	M119L	probably damaging	Het
Olfr685	T	C	7: 105,181,311	M16V		Het
Opcml	A	G	9: 28,675,270	I95V	probably damaging	Het
P2rx3	A	C	2: 85,022,391	V221G	probably damaging	Het
Prr27	A	G	5: 87,842,697	N56S	possibly damaging	Het
Rftn1	G	T	17: 50,047,380	A318D	probably damaging	Het
Sall3	T	C	18: 80,973,528	D395G	probably benign	Het
Scube2	T	C	7: 109,864,170	N62S	probably benign	Het
Sema6a	A	T	18: 47,290,115	S275T	probably damaging	Het
Sirpb1a	A	T	3: 15,379,044	L382Q	possibly damaging	Het
Snrpn	T	A	7: 59,986,885		probably null	Het
Sox5	A	T	6: 144,155,051	S71T	possibly damaging	Het
Synpo2l	G	T	14: 20,662,276	T321K	probably benign	Het
Tex15	G	A	8: 33,565,205	E285K	probably null	Het
Tmem126b	G	A	7: 90,469,109	L188F	probably damaging	Het
Ttll2	T	C	17: 7,351,368	T387A	probably benign	Het
Ttn	A	G	2: 76,836,811	Y11484H	unknown	Het
Vmn2r76	T	A	7: 86,226,023	Y582F	possibly damaging	Het
Zfp786	A	T	6: 47,820,795	L403Q	possibly damaging	Het

Other mutations in Psmd11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00435:Psmd11	APN	11	80470384	missense	possibly damaging	0.88
IGL03383:Psmd11	APN	11	80469845	missense	probably damaging	1.00
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
R7769:Psmd11	UTSW	11	80434582	intron	probably benign
R8733:Psmd11	UTSW	11	80434516	intron	probably benign
R8913:Psmd11	UTSW	11	80471512	missense	probably damaging	0.99
R9064:Psmd11	UTSW	11	80445243	missense	probably damaging	0.97
Z1088:Psmd11	UTSW	11	80471550	frame shift	probably null
Z1176:Psmd11	UTSW	11	80428648	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- GAAATAGTACTGGGGCTGAGTTC -3'
(R):5'- TCTAAAGCAGGACTTTACCGTG -3'

Sequencing Primer
(F):5'- AATAGTACTGGGGCTGAGTTCAGTTG -3'
(R):5'- GGAATCCACTCATTTGGC -3'

Posted On

2020-07-28