Mutagenetix > Incidental Mutation

Incidental Mutation 'R5182:Psmd12'

397627

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

042853-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R5182 (G1)

Quality Score

164

Status

Validated

Chromosome

Chromosomal Location

107370354-107388862 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107370485 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 28 (L28P)

Ref Sequence

ENSEMBL: ENSMUSP00000021063 (fasta)

Gene Model

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

AlphaFold

Q9D8W5

Predicted Effect

probably damaging
Transcript: ENSMUST00000021063
AA Change: L28P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000021063
Gene: ENSMUSG00000020720
AA Change: L28P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000106750
AA Change: L28P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102361
Gene: ENSMUSG00000020720
AA Change: L28P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000106752
AA Change: L28P

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

SMART Domains

Protein: ENSMUSP00000102363
Gene: ENSMUSG00000020720
AA Change: L28P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138702

Meta Mutation Damage Score

0.8357

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (66/66)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059E24Rik	A	G	19: 21,608,129 (GRCm39)	M1T	probably null	Het
Abcg8	T	C	17: 85,000,172 (GRCm39)	L243P	probably damaging	Het
Ankrd27	A	G	7: 35,327,912 (GRCm39)	T811A	probably damaging	Het
Auts2	T	C	5: 131,503,919 (GRCm39)	N188S	probably null	Het
Bak1	G	A	17: 27,241,722 (GRCm39)	P65L	possibly damaging	Het
Cep350	A	C	1: 155,733,854 (GRCm39)	L3013R	probably damaging	Het
Clca3b	A	G	3: 144,533,776 (GRCm39)	I533T	probably damaging	Het
Col6a5	C	A	9: 105,734,531 (GRCm39)	E2637*	probably null	Het
Coq5	G	A	5: 115,417,815 (GRCm39)	R15H	probably benign	Het
Dnah5	T	G	15: 28,311,424 (GRCm39)	I1801S	probably damaging	Het
Dnhd1	G	A	7: 105,352,416 (GRCm39)	R2523Q	probably damaging	Het
Dpf3	T	C	12: 83,417,370 (GRCm39)	E34G	probably damaging	Het
Dst	C	A	1: 34,218,167 (GRCm39)	Q1536K	probably benign	Het
Eeig2	T	C	3: 108,892,667 (GRCm39)	K173E	possibly damaging	Het
Eng	T	C	2: 32,562,971 (GRCm39)		probably null	Het
Fignl1	A	T	11: 11,751,717 (GRCm39)	I446N	probably damaging	Het
Fras1	C	A	5: 96,784,032 (GRCm39)	C845*	probably null	Het
Gfm2	T	C	13: 97,299,401 (GRCm39)	V347A	probably damaging	Het
Gpld1	A	T	13: 25,168,053 (GRCm39)		probably null	Het
Grn	C	A	11: 102,321,380 (GRCm39)		probably benign	Het
Gsdmc4	C	A	15: 63,765,653 (GRCm39)	V299F	probably damaging	Het
Hrnr	A	T	3: 93,239,450 (GRCm39)	R3229S	unknown	Het
Icam5	A	G	9: 20,946,106 (GRCm39)	T313A	probably benign	Het
Ift172	T	A	5: 31,424,958 (GRCm39)	D668V	possibly damaging	Het
Kdm5a	T	A	6: 120,365,066 (GRCm39)	C322*	probably null	Het
Klk6	A	G	7: 43,478,084 (GRCm39)	K152R	probably benign	Het
Man1a2	A	C	3: 100,554,333 (GRCm39)	I250S	probably damaging	Het
Nkpd1	A	G	7: 19,257,181 (GRCm39)	Y170C	probably damaging	Het
Nmd3	T	A	3: 69,629,801 (GRCm39)		probably null	Het
Or2y3	A	G	17: 38,393,005 (GRCm39)	M288T	probably benign	Het
Or51f1	A	T	7: 102,506,176 (GRCm39)	D104E	probably benign	Het
Pax4	C	T	6: 28,444,368 (GRCm39)	E229K	probably benign	Het
Pdc	T	C	1: 150,209,105 (GRCm39)	I196T	possibly damaging	Het
Pld1	T	C	3: 28,099,230 (GRCm39)	I299T	probably damaging	Het
Pnma1	T	C	12: 84,193,819 (GRCm39)	I295V	probably benign	Het
Prkg2	T	A	5: 99,172,568 (GRCm39)	Y49F	probably benign	Het
Ptprg	A	G	14: 12,154,174 (GRCm38)	T632A	probably benign	Het
Rab43	A	G	6: 87,771,637 (GRCm39)	*118R	probably null	Het
Rabep1	C	T	11: 70,795,454 (GRCm39)	R227*	probably null	Het
Rad51c	T	G	11: 87,288,545 (GRCm39)	I213L	possibly damaging	Het
Ranbp17	A	T	11: 33,169,287 (GRCm39)		probably benign	Het
Ryr3	T	C	2: 112,585,495 (GRCm39)	E2735G	probably damaging	Het
Sdc3	A	G	4: 130,548,995 (GRCm39)		probably benign	Het
Sirpa	G	A	2: 129,457,652 (GRCm39)	R242H	possibly damaging	Het
Slc12a4	G	A	8: 106,671,238 (GRCm39)	T983M	probably damaging	Het
Snx7	A	G	3: 117,626,506 (GRCm39)	Y252H	probably damaging	Het
St18	C	T	1: 6,887,877 (GRCm39)	T482I	probably benign	Het
St7	A	G	6: 17,846,236 (GRCm39)	Y163C	probably damaging	Het
Tas2r140	A	T	6: 40,468,866 (GRCm39)	Q232L	probably benign	Het
Tgm6	A	T	2: 129,983,222 (GRCm39)	K270N	probably damaging	Het
Tiam2	G	A	17: 3,488,996 (GRCm39)	G768D	probably damaging	Het
Ttn	C	T	2: 76,700,773 (GRCm39)		probably benign	Het
Ube4b	A	C	4: 149,465,699 (GRCm39)	S250R	probably null	Het
Ubxn2a	G	A	12: 4,930,634 (GRCm39)	A242V	probably damaging	Het
Usp10	G	A	8: 120,683,420 (GRCm39)	V764I	possibly damaging	Het
Vmn1r222	A	G	13: 23,416,667 (GRCm39)	L182P	probably damaging	Het
Vmn2r114	A	G	17: 23,510,632 (GRCm39)	V616A	probably damaging	Het
Vps13a	A	G	19: 16,672,863 (GRCm39)	V1303A	possibly damaging	Het
Wnk2	G	T	13: 49,214,637 (GRCm39)	T1315K	possibly damaging	Het
Zfp936	G	A	7: 42,839,331 (GRCm39)	C266Y	probably damaging	Het
Zscan20	G	T	4: 128,480,504 (GRCm39)	N662K	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
R5586:Psmd12	UTSW	11	107,377,301 (GRCm39)	missense	probably benign	0.35
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'- AAAACCCCGCCCATTCTTGG -3'
(R):5'- TCCAGACGTCAAGTTCGATGG -3'

Sequencing Primer
(F):5'- TTCCGACGCACTGCCTGAG -3'
(R):5'- CGTCAAGTTCGATGGGCAAG -3'

Posted On

2016-07-06