Mutagenetix > Incidental Mutation

Incidental Mutation 'R9057:Psmd12'

688762

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

068883-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R9057 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107370354-107388862 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 107377328 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 129 (R129Q)

Ref Sequence

ENSEMBL: ENSMUSP00000021063 (fasta)

Gene Model

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

AlphaFold

Q9D8W5

Predicted Effect

probably null
Transcript: ENSMUST00000021063
AA Change: R129Q

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000021063
Gene: ENSMUSG00000020720
AA Change: R129Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000106750
AA Change: R109Q

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000102361
Gene: ENSMUSG00000020720
AA Change: R109Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000106752
AA Change: R129Q

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

SMART Domains

Protein: ENSMUSP00000102363
Gene: ENSMUSG00000020720
AA Change: R129Q

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (63/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aagab	T	A	9: 63,524,782 (GRCm39)		probably benign	Het
Abca2	G	A	2: 25,331,584 (GRCm39)	D1324N	probably benign	Het
Acat1	C	T	9: 53,503,300 (GRCm39)	G180R	probably damaging	Het
AI837181	A	C	19: 5,476,730 (GRCm39)	T298P	probably damaging	Het
Alms1	T	A	6: 85,586,814 (GRCm39)	D556E	unknown	Het
Ankle1	T	A	8: 71,858,961 (GRCm39)	W65R	probably benign	Het
Ano5	A	G	7: 51,203,654 (GRCm39)	N234S	probably benign	Het
Asb7	T	A	7: 66,309,395 (GRCm39)		probably benign	Het
Atad2b	T	A	12: 5,068,102 (GRCm39)	C1033*	probably null	Het
B4galnt1	A	G	10: 127,006,999 (GRCm39)	D452G	probably damaging	Het
B4gat1	G	T	19: 5,089,056 (GRCm39)	A18S	possibly damaging	Het
Bard1	A	G	1: 71,069,807 (GRCm39)	Y724H	probably damaging	Het
Bcl9	A	T	3: 97,112,306 (GRCm39)	M1383K	possibly damaging	Het
Cenpt	C	A	8: 106,576,405 (GRCm39)	*43L	probably null	Het
Ces2f	C	A	8: 105,674,744 (GRCm39)	H49N	probably benign	Het
Col17a1	A	T	19: 47,637,522 (GRCm39)	D1245E	probably damaging	Het
Col19a1	G	T	1: 24,549,962 (GRCm39)	H312N	unknown	Het
Cyb5d2	C	T	11: 72,679,924 (GRCm39)	E124K	probably benign	Het
Dnah5	C	T	15: 28,391,014 (GRCm39)	A3291V	probably damaging	Het
Exo5	A	T	4: 120,779,186 (GRCm39)	D226E	probably damaging	Het
Ggt6	C	T	11: 72,328,067 (GRCm39)	T189M	probably damaging	Het
Gm5592	C	A	7: 40,938,887 (GRCm39)	S723Y	possibly damaging	Het
Golga3	C	T	5: 110,332,465 (GRCm39)	T133M	probably damaging	Het
Heatr5a	C	T	12: 51,986,420 (GRCm39)	E598K	probably damaging	Het
Hfe	T	A	13: 23,889,658 (GRCm39)	I330F	possibly damaging	Het
Htt	A	G	5: 35,009,454 (GRCm39)	I1478M	possibly damaging	Het
Igf1r	T	C	7: 67,833,186 (GRCm39)	F449L	probably damaging	Het
Ints4	T	C	7: 97,158,987 (GRCm39)	V453A	possibly damaging	Het
Ints6	A	G	14: 62,951,740 (GRCm39)		probably null	Het
Klrh1	T	A	6: 129,752,803 (GRCm39)	M1L	probably benign	Het
Kpna4	G	A	3: 69,002,018 (GRCm39)	T248M	probably damaging	Het
Lactb	T	C	9: 66,874,977 (GRCm39)	I372V	possibly damaging	Het
Mib1	T	A	18: 10,795,728 (GRCm39)	D696E	possibly damaging	Het
Mpzl3	G	A	9: 44,979,592 (GRCm39)	R181Q	probably damaging	Het
Mup12	A	T	4: 60,696,779 (GRCm39)	I33N	probably damaging	Het
Myh10	A	G	11: 68,656,011 (GRCm39)	I502V	possibly damaging	Het
Nacad	C	A	11: 6,550,876 (GRCm39)	V772F	possibly damaging	Het
Nbeal2	G	T	9: 110,456,218 (GRCm39)	T2417N	probably benign	Het
Nif3l1	A	G	1: 58,489,648 (GRCm39)	D179G	probably benign	Het
Or2ag17	A	T	7: 106,389,296 (GRCm39)	V304D	probably damaging	Het
Or6e1	T	C	14: 54,520,148 (GRCm39)	E68G	probably damaging	Het
Pan2	A	T	10: 128,156,141 (GRCm39)	H1133L	probably damaging	Het
Pgk2	A	G	17: 40,518,735 (GRCm39)	V231A	possibly damaging	Het
Rpl23a	G	A	11: 78,072,021 (GRCm39)	R139C	probably benign	Het
Sars2	G	T	7: 28,446,246 (GRCm39)	Q158H		Het
Scd3	C	T	19: 44,224,340 (GRCm39)	P191L	probably damaging	Het
Serac1	C	A	17: 6,111,890 (GRCm39)	S262I	probably damaging	Het
Sh3bp1	A	G	15: 78,794,209 (GRCm39)	T526A	probably benign	Het
Slc26a3	A	T	12: 31,520,958 (GRCm39)	T721S	probably benign	Het
Slc8a1	A	C	17: 81,955,479 (GRCm39)	S520A	probably benign	Het
Sp9	A	T	2: 73,103,613 (GRCm39)	S56C	probably damaging	Het
Spire2	T	A	8: 124,095,547 (GRCm39)		probably benign	Het
Syne2	T	G	12: 75,937,167 (GRCm39)	L255R	probably damaging	Het
Tcp11l1	A	G	2: 104,528,026 (GRCm39)	I156T	probably damaging	Het
Tnrc6b	G	A	15: 80,763,349 (GRCm39)	A284T	probably benign	Het
Trappc14	A	T	5: 138,260,949 (GRCm39)	V232E	probably damaging	Het
Tsc1	T	A	2: 28,575,874 (GRCm39)	L919H	probably damaging	Het
Vps13c	T	A	9: 67,828,209 (GRCm39)	H1454Q	probably benign	Het
Vps41	T	A	13: 19,027,702 (GRCm39)	D537E	probably benign	Het
Wnt16	T	A	6: 22,288,823 (GRCm39)	C47S	probably damaging	Het
Zfhx2	C	T	14: 55,310,027 (GRCm39)	E840K	possibly damaging	Het
Zfp61	A	T	7: 23,990,702 (GRCm39)	V483E	probably benign	Het
Zfp870	A	T	17: 33,102,793 (GRCm39)	S179T	probably benign	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
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
Z1177:Psmd12	UTSW	11	107,376,383 (GRCm39)	missense	probably benign	0.39

Predicted Primers

PCR Primer
(F):5'- AATGTATCTATGGAATTTCCCTCCC -3'
(R):5'- TCACTTAATTCTGAGCCAGGTG -3'

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

Posted On

2021-11-19