Mutagenetix > Incidental Mutation

Incidental Mutation 'R5586:Psmd12'

438744

Institutional Source

Beutler Lab

Gene Symbol

Psmd12

Ensembl Gene

ENSMUSG00000020720

Gene Name

proteasome (prosome, macropain) 26S subunit, non-ATPase, 12

Synonyms

P55, 1500002F15Rik

MMRRC Submission

043140-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R5586 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107370354-107388862 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107377301 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 120 (V120D)

Ref Sequence

ENSEMBL: ENSMUSP00000102363 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021063] [ENSMUST00000106750] [ENSMUST00000106752]

AlphaFold

Q9D8W5

Predicted Effect

probably benign
Transcript: ENSMUST00000021063
AA Change: V120D

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000021063
Gene: ENSMUSG00000020720
AA Change: V120D

Domain	Start	End	E-Value	Type
PINT	349	435	3.24e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106750
AA Change: V100D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000102361
Gene: ENSMUSG00000020720
AA Change: V100D

Domain	Start	End	E-Value	Type
PINT	329	415	3.24e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106752
AA Change: V120D

PolyPhen 2 Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000102363
Gene: ENSMUSG00000020720
AA Change: V120D

Domain	Start	End	E-Value	Type
Pfam:PCI	300	398	1.3e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138702

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.0%

Validation Efficiency

98% (101/103)

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 3. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	A	G	7: 29,277,153 (GRCm39)		noncoding transcript	Het
Aaas	A	T	15: 102,255,111 (GRCm39)		probably null	Het
Abcc3	G	A	11: 94,255,247 (GRCm39)	R600W	probably damaging	Het
Abhd13	A	T	8: 10,038,318 (GRCm39)	Q305L	probably benign	Het
Adcy5	A	T	16: 34,977,486 (GRCm39)	I340F	probably damaging	Het
Adgrl3	T	A	5: 81,871,994 (GRCm39)	I964N	probably damaging	Het
Anks1b	T	A	10: 89,912,926 (GRCm39)	H316Q	probably damaging	Het
Ap3d1	A	T	10: 80,554,964 (GRCm39)	F454I	possibly damaging	Het
Apol7c	T	C	15: 77,410,599 (GRCm39)	R116G	possibly damaging	Het
Arhgap5	A	G	12: 52,566,695 (GRCm39)	E1222G	possibly damaging	Het
AW551984	A	G	9: 39,502,559 (GRCm39)	V673A	probably benign	Het
Baiap2l1	A	G	5: 144,218,949 (GRCm39)	S220P	probably damaging	Het
Bcl6	A	G	16: 23,791,926 (GRCm39)	F143L	probably benign	Het
Calb1	A	T	4: 15,900,811 (GRCm39)	T165S	probably benign	Het
Ccdc66	C	A	14: 27,228,668 (GRCm39)	G6C	probably damaging	Het
Ccdc88a	A	G	11: 29,453,484 (GRCm39)	I344V	probably benign	Het
Cdh19	T	A	1: 110,857,587 (GRCm39)	D249V	probably damaging	Het
Ces1c	T	A	8: 93,854,227 (GRCm39)	T103S	probably benign	Het
Cfap54	T	A	10: 92,808,473 (GRCm39)	K1401*	probably null	Het
Copa	T	A	1: 171,932,789 (GRCm39)	N371K	probably damaging	Het
Cyp2b10	A	T	7: 25,616,437 (GRCm39)	Y348F	probably damaging	Het
Dennd5a	T	C	7: 109,504,928 (GRCm39)	R861G	possibly damaging	Het
Dhx8	T	C	11: 101,623,862 (GRCm39)		probably benign	Het
Dido1	C	T	2: 180,301,445 (GRCm39)	W2153*	probably null	Het
Dlgap1	T	A	17: 71,125,156 (GRCm39)	V969D	probably damaging	Het
Dvl3	A	G	16: 20,336,039 (GRCm39)	D32G	probably damaging	Het
Epdr1	T	C	13: 19,778,718 (GRCm39)	D24G	probably benign	Het
Etnk2	T	A	1: 133,307,043 (GRCm39)		probably null	Het
Fhad1	C	T	4: 141,632,442 (GRCm39)	M1232I	probably benign	Het
Gcnt2	A	C	13: 41,014,429 (GRCm39)	E200A	probably damaging	Het
Gm5174	A	G	10: 86,492,409 (GRCm39)		noncoding transcript	Het
Gm6408	T	A	5: 146,421,267 (GRCm39)	F299I	possibly damaging	Het
Gpr85	G	T	6: 13,836,000 (GRCm39)	Y301*	probably null	Het
Gucy2e	G	T	11: 69,117,082 (GRCm39)	P780T	probably damaging	Het
Icam5	A	T	9: 20,946,116 (GRCm39)	N316I	probably damaging	Het
Ifit1bl1	C	T	19: 34,571,677 (GRCm39)	R260Q	probably damaging	Het
Il1r1	A	C	1: 40,264,411 (GRCm39)		probably benign	Het
Kif3c	A	T	12: 3,439,656 (GRCm39)	I86F	probably benign	Het
Klhdc2	A	G	12: 69,354,467 (GRCm39)		probably null	Het
Mast2	A	G	4: 116,292,760 (GRCm39)	L9P	probably damaging	Het
Mcoln1	G	T	8: 3,560,389 (GRCm39)	C316F	probably damaging	Het
Mon1a	A	T	9: 107,775,894 (GRCm39)	D4V	probably damaging	Het
Ms4a18	T	A	19: 10,991,038 (GRCm39)	M19L	probably benign	Het
Nbea	T	C	3: 55,539,392 (GRCm39)	K2790E	probably benign	Het
Niban1	C	T	1: 151,593,307 (GRCm39)	T664I	probably benign	Het
Noc3l	C	T	19: 38,803,139 (GRCm39)	E167K	possibly damaging	Het
Nol10	G	A	12: 17,466,829 (GRCm39)	E570K	possibly damaging	Het
Nr2e3	T	C	9: 59,856,484 (GRCm39)	R69G	probably damaging	Het
Obscn	G	A	11: 58,892,294 (GRCm39)	R1358*	probably null	Het
Or14j4	A	T	17: 37,921,145 (GRCm39)	F166I	probably damaging	Het
Or2b7	C	A	13: 21,739,266 (GRCm39)	V309F	probably damaging	Het
Or52e8b	A	G	7: 104,673,428 (GRCm39)	I253T	probably damaging	Het
Or5b117	A	T	19: 13,431,746 (GRCm39)	M45K	probably benign	Het
Pak2	A	T	16: 31,860,337 (GRCm39)	D175E	probably benign	Het
Pccb	C	T	9: 100,867,856 (GRCm39)	V357I	possibly damaging	Het
Pcdhb4	C	T	18: 37,442,034 (GRCm39)	P448L	probably damaging	Het
Pcdhb9	A	G	18: 37,534,167 (GRCm39)	M54V	probably benign	Het
Ppp3cb	A	G	14: 20,570,758 (GRCm39)		probably benign	Het
Ppp4r1	A	G	17: 66,131,563 (GRCm39)	D452G	probably benign	Het
Pramel18	T	A	4: 101,767,317 (GRCm39)	F189I	probably benign	Het
Prmt3	T	A	7: 49,476,499 (GRCm39)	D369E	probably damaging	Het
Ptprb	T	C	10: 116,189,732 (GRCm39)	L1797P	probably damaging	Het
Ptprm	A	G	17: 67,227,191 (GRCm39)	S653P	probably damaging	Het
Pxdn	T	A	12: 30,053,141 (GRCm39)	V926D	probably damaging	Het
Retreg3	T	G	11: 100,997,165 (GRCm39)	Q105P	probably damaging	Het
Sacs	A	T	14: 61,443,890 (GRCm39)	R1979*	probably null	Het
Scn2a	T	A	2: 65,537,639 (GRCm39)	L696*	probably null	Het
Sema3c	A	T	5: 17,916,422 (GRCm39)	N465Y	probably damaging	Het
Slc25a32	A	T	15: 38,963,308 (GRCm39)	V171E	possibly damaging	Het
Slc30a7	C	T	3: 115,783,700 (GRCm39)	V158I	probably benign	Het
Slc44a5	G	A	3: 153,975,802 (GRCm39)		probably benign	Het
Slc4a8	A	G	15: 100,685,045 (GRCm39)	D140G	probably damaging	Het
Slc7a11	G	A	3: 50,397,532 (GRCm39)	S60L	possibly damaging	Het
Spryd3	A	T	15: 102,040,372 (GRCm39)	H59Q	probably benign	Het
Sqstm1	T	C	11: 50,093,849 (GRCm39)	D256G	probably damaging	Het
Sst	A	T	16: 23,708,487 (GRCm39)	S115T	probably damaging	Het
Stimate	A	G	14: 30,592,776 (GRCm39)	K166E	probably damaging	Het
Surf1	T	C	2: 26,805,963 (GRCm39)		probably benign	Het
Synj1	A	T	16: 90,806,865 (GRCm39)		probably benign	Het
Tet1	C	A	10: 62,714,073 (GRCm39)	C574F	probably damaging	Het
Thnsl1	T	A	2: 21,217,201 (GRCm39)	Y318*	probably null	Het
Tomm70a	A	G	16: 56,942,493 (GRCm39)	E90G	probably damaging	Het
Treml4	A	G	17: 48,571,927 (GRCm39)	D110G	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Txnl1	C	T	18: 63,797,396 (GRCm39)	G283D	probably damaging	Het
Uba6	T	C	5: 86,282,906 (GRCm39)	D559G	probably damaging	Het
Usp4	T	C	9: 108,233,661 (GRCm39)	V94A	possibly damaging	Het
Vmn2r25	A	C	6: 123,802,255 (GRCm39)	C549W	probably damaging	Het
Vmn2r59	G	T	7: 41,695,105 (GRCm39)	Q436K	probably benign	Het
Wdr70	A	T	15: 7,913,769 (GRCm39)	Y627N	possibly damaging	Het
Xpr1	T	C	1: 155,188,609 (GRCm39)	I344V	probably benign	Het
Zfp423	T	A	8: 88,585,968 (GRCm39)	Q61L	possibly damaging	Het

Other mutations in Psmd12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03002:Psmd12	APN	11	107,376,607 (GRCm39)	missense	probably benign	0.00
R0384:Psmd12	UTSW	11	107,376,547 (GRCm39)	missense	probably benign	0.00
R1457:Psmd12	UTSW	11	107,370,472 (GRCm39)	missense	probably damaging	1.00
R1661:Psmd12	UTSW	11	107,382,732 (GRCm39)	missense	probably damaging	1.00
R2443:Psmd12	UTSW	11	107,386,563 (GRCm39)	missense	probably damaging	1.00
R3806:Psmd12	UTSW	11	107,386,591 (GRCm39)	missense	probably benign	0.03
R3807:Psmd12	UTSW	11	107,386,591 (GRCm39)	missense	probably benign	0.03
R3840:Psmd12	UTSW	11	107,376,398 (GRCm39)	missense	probably benign	0.02
R4212:Psmd12	UTSW	11	107,376,585 (GRCm39)	missense	probably damaging	1.00
R4718:Psmd12	UTSW	11	107,377,259 (GRCm39)	missense	probably benign	0.15
R5182:Psmd12	UTSW	11	107,370,485 (GRCm39)	missense	probably damaging	1.00
R6171:Psmd12	UTSW	11	107,382,733 (GRCm39)	missense	probably damaging	0.96
R6444:Psmd12	UTSW	11	107,377,280 (GRCm39)	missense	possibly damaging	0.55
R6527:Psmd12	UTSW	11	107,379,794 (GRCm39)	missense	probably damaging	0.96
R7276:Psmd12	UTSW	11	107,394,471 (GRCm39)	nonsense	probably null
R7466:Psmd12	UTSW	11	107,382,883 (GRCm39)	missense	probably benign	0.03
R7751:Psmd12	UTSW	11	107,370,439 (GRCm39)	missense	possibly damaging	0.68
R7779:Psmd12	UTSW	11	107,388,405 (GRCm39)	missense	probably benign	0.01
R8373:Psmd12	UTSW	11	107,388,450 (GRCm39)	missense	probably damaging	0.98
R9057:Psmd12	UTSW	11	107,377,328 (GRCm39)	missense	probably null	0.99
Z1177:Psmd12	UTSW	11	107,376,383 (GRCm39)	missense	probably benign	0.39

Predicted Primers

PCR Primer
(F):5'- GGAATGTATCTATGGAATTTCCCTCC -3'
(R):5'- ACTTAATTCTGAGCCAGGTGTG -3'

Sequencing Primer
(F):5'- CCTTAATCCCAGCATTAGGTAGGG -3'
(R):5'- ACCTTTCATTTCAGAACCTGGGAGG -3'

Posted On

2016-10-26