Mutagenetix > Incidental Mutation

Incidental Mutation 'R7466:Psmd12'

578792

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

045540-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R7466 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107370354-107388862 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107382883 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 234 (D234G)

Ref Sequence

ENSEMBL: ENSMUSP00000021063 (fasta)

Gene Model

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

AlphaFold

Q9D8W5

Predicted Effect

probably benign
Transcript: ENSMUST00000021063
AA Change: D234G

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000021063
Gene: ENSMUSG00000020720
AA Change: D234G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000106750
AA Change: D214G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000102361
Gene: ENSMUSG00000020720
AA Change: D214G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000106752
AA Change: D234G

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000102363
Gene: ENSMUSG00000020720
AA Change: D234G

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

99% (83/84)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI182371	T	A	2: 34,978,753 (GRCm39)	K203*	probably null	Het
Akr1c13	T	C	13: 4,242,436 (GRCm39)		probably benign	Het
Amer3	A	G	1: 34,627,074 (GRCm39)	S438G	probably damaging	Het
Aqp9	T	A	9: 71,070,543 (GRCm39)		probably null	Het
Art4	G	T	6: 136,831,848 (GRCm39)	H98N	probably damaging	Het
Bdh1	T	C	16: 31,266,422 (GRCm39)	S70P	probably benign	Het
Ccdc61	A	C	7: 18,625,030 (GRCm39)	Y503D	probably damaging	Het
Cd180	A	T	13: 102,841,503 (GRCm39)	N183I	probably damaging	Het
Cd200r2	C	T	16: 44,729,537 (GRCm39)	A64V	probably damaging	Het
Ceacam9	A	C	7: 16,457,780 (GRCm39)	K98Q	probably benign	Het
Cep44	AACGC	A	8: 56,994,018 (GRCm39)		probably null	Het
Cfap77	G	T	2: 28,845,625 (GRCm39)	D247E	probably benign	Het
Cftr	T	C	6: 18,227,972 (GRCm39)	M388T	probably benign	Het
Chrnb1	G	A	11: 69,675,476 (GRCm39)	H493Y	probably damaging	Het
Ckap2	A	C	8: 22,667,402 (GRCm39)	M153R	probably benign	Het
Cnot6l	A	G	5: 96,278,987 (GRCm39)	V77A	probably benign	Het
Col12a1	C	T	9: 79,562,689 (GRCm39)	E1798K	possibly damaging	Het
Cth	T	A	3: 157,630,522 (GRCm39)	D49V	probably benign	Het
Ctnnb1	T	C	9: 120,784,482 (GRCm39)	S425P	probably damaging	Het
Ctnnd1	T	C	2: 84,441,129 (GRCm39)	N690S	probably benign	Het
Dennd2b	A	G	7: 109,124,553 (GRCm39)	L1096P	probably damaging	Het
Dennd4c	A	G	4: 86,692,568 (GRCm39)	D26G	probably damaging	Het
Dlg5	G	A	14: 24,295,280 (GRCm39)	P80L	probably damaging	Het
Dnai3	T	C	3: 145,761,373 (GRCm39)	D661G	probably benign	Het
Eef2k	A	G	7: 120,502,707 (GRCm39)		probably null	Het
Ephb2	C	T	4: 136,386,376 (GRCm39)	R791H	probably damaging	Het
Erh	T	C	12: 80,687,757 (GRCm39)	Y22C	probably benign	Het
F5	C	T	1: 164,020,897 (GRCm39)	T1124I	possibly damaging	Het
Fam220a	T	A	5: 143,549,226 (GRCm39)	C213S	possibly damaging	Het
Fat2	G	T	11: 55,201,258 (GRCm39)	N605K	probably damaging	Het
Ganab	C	A	19: 8,891,933 (GRCm39)	S780*	probably null	Het
Gbgt1	C	T	2: 28,392,219 (GRCm39)	P67S	probably damaging	Het
Gm17190	G	T	13: 96,219,287 (GRCm39)	G208*	probably null	Het
Grhl2	A	G	15: 37,291,860 (GRCm39)	Y316C	probably damaging	Het
H2-T10	T	C	17: 36,431,741 (GRCm39)	T38A	probably benign	Het
Ins1	A	G	19: 52,252,858 (GRCm39)		probably benign	Het
Ippk	T	C	13: 49,585,943 (GRCm39)		probably null	Het
Klc4	T	A	17: 46,950,836 (GRCm39)	I258F	probably benign	Het
Manba	C	A	3: 135,248,154 (GRCm39)	L348I	probably benign	Het
Mgam	A	G	6: 40,721,723 (GRCm39)	N347S	probably benign	Het
Myo18b	T	C	5: 112,871,758 (GRCm39)	T2108A	probably benign	Het
Naip5	A	T	13: 100,358,494 (GRCm39)	L914*	probably null	Het
Nsa2	C	T	13: 97,267,728 (GRCm39)	A242T	probably benign	Het
Nsd2	G	A	5: 34,039,491 (GRCm39)	W834*	probably null	Het
Or10q3	T	A	19: 11,847,680 (GRCm39)	D300V	possibly damaging	Het
Or5p50	A	T	7: 107,422,129 (GRCm39)	C182*	probably null	Het
Or5w1	T	C	2: 87,486,740 (GRCm39)	N175S	possibly damaging	Het
Or8s16	T	C	15: 98,211,261 (GRCm39)	M57V	probably damaging	Het
Pam	A	T	1: 97,769,972 (GRCm39)	D599E	probably damaging	Het
Phf20l1	A	G	15: 66,508,733 (GRCm39)	K864R	probably damaging	Het
Pip4p2	T	A	4: 14,912,477 (GRCm39)	Y195*	probably null	Het
Plcl2	A	G	17: 50,915,496 (GRCm39)	D835G	probably damaging	Het
Ppm1m	C	A	9: 106,073,356 (GRCm39)	A329S	probably damaging	Het
Prep	T	C	10: 45,026,534 (GRCm39)	V486A	probably benign	Het
Prkcb	A	T	7: 122,116,067 (GRCm39)	N182I	probably damaging	Het
Prkcz	A	G	4: 155,356,059 (GRCm39)	F355S	probably damaging	Het
Psg20	C	T	7: 18,418,392 (GRCm39)	S125N	probably benign	Het
Pvrig-ps	A	T	5: 138,340,270 (GRCm39)	M14L	probably benign	Het
Rabgap1l	C	T	1: 160,054,054 (GRCm39)		probably null	Het
Rfc1	A	T	5: 65,432,769 (GRCm39)	C764S	probably damaging	Het
Ryr3	T	C	2: 112,757,302 (GRCm39)	D351G	probably benign	Het
Scart1	T	C	7: 139,800,619 (GRCm39)		probably null	Het
Serpinb9g	T	C	13: 33,679,150 (GRCm39)	F340S	probably benign	Het
Sirpb1c	C	A	3: 15,886,430 (GRCm39)	L315F	probably damaging	Het
Slc24a1	C	G	9: 64,835,686 (GRCm39)	E814Q	unknown	Het
Slc26a11	A	T	11: 119,265,328 (GRCm39)	Q355L	probably damaging	Het
Sp100	C	T	1: 85,634,960 (GRCm39)	L483F	possibly damaging	Het
Ston1	T	A	17: 88,943,329 (GRCm39)	M245K	probably benign	Het
Swap70	T	A	7: 109,873,979 (GRCm39)	D442E	probably benign	Het
Syne2	T	A	12: 76,092,960 (GRCm39)	V450D	possibly damaging	Het
Tbck	T	A	3: 132,458,324 (GRCm39)	N651K	probably damaging	Het
Timd4	A	T	11: 46,708,585 (GRCm39)	T204S	probably benign	Het
Tmem102	A	G	11: 69,695,711 (GRCm39)	L87P	probably damaging	Het
Tmprss11e	T	A	5: 86,857,339 (GRCm39)	T325S	probably benign	Het
Trpm1	G	A	7: 63,890,330 (GRCm39)	V978M	probably damaging	Het
Wdr12	A	T	1: 60,133,670 (GRCm39)	D19E	probably benign	Het
Wdr35	G	A	12: 9,055,773 (GRCm39)	V482I	probably benign	Het
Zer1	T	C	2: 29,991,496 (GRCm39)		probably null	Het
Zfp503	T	C	14: 22,036,079 (GRCm39)	D279G	probably benign	Het
Zfp870	A	T	17: 33,102,736 (GRCm39)	C198S	possibly damaging	Het
Zftraf1	C	T	15: 76,532,386 (GRCm39)	D241N	probably benign	Het
Zfyve26	C	T	12: 79,334,581 (GRCm39)	E146K	probably benign	Het
Zkscan6	T	C	11: 65,719,357 (GRCm39)	V459A	probably 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
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
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'- GCTGTGAAGGATTACATTCGC -3'
(R):5'- AATCATACTGAGGGCCCAGTG -3'

Sequencing Primer
(F):5'- CTGTGAAGGATTACATTCGCACACAG -3'
(R):5'- AGTGCCAGCCAGGTGAG -3'

Posted On

2019-10-07