Mutagenetix > Incidental Mutation

Incidental Mutation 'R7718:Psmd7'

595049

Institutional Source

Beutler Lab

Gene Symbol

Psmd7

Ensembl Gene

ENSMUSG00000039067

Gene Name

proteasome (prosome, macropain) 26S subunit, non-ATPase, 7

Synonyms

Mov34, Mov-34

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7718 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107580381-107588464 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 107586629 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 54 (F54L)

Ref Sequence

ENSEMBL: ENSMUSP00000041968 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044106]

AlphaFold

P26516

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044106
AA Change: F54L

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000041968
Gene: ENSMUSG00000039067
AA Change: F54L

Domain	Start	End	E-Value	Type
JAB_MPN	8	143	3.43e-44	SMART
Pfam:MitMem_reg	166	277	2e-39	PFAM
coiled coil region	285	321	N/A	INTRINSIC

Meta Mutation Damage Score

0.9332

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (77/78)

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 17. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice carrying a proviral insertion at this locus develop normally to the blastocyst stage but die shortly after implantation before reaching the egg cylinder stage. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921507P07Rik	G	A	6: 50,589,098		probably null	Het
9530053A07Rik	T	C	7: 28,147,201	F1106S	probably damaging	Het
A430033K04Rik	A	T	5: 138,647,860	H669L	possibly damaging	Het
A930017K11Rik	T	A	17: 25,947,024	R430*	probably null	Het
Abcb1a	A	T	5: 8,715,788	N700I	probably damaging	Het
Abcc6	T	C	7: 45,977,392	K1414E	possibly damaging	Het
Adcy5	T	C	16: 35,280,415	V779A	probably benign	Het
Agap2	A	G	10: 127,079,865	S82G	possibly damaging	Het
Aldh1l1	A	G	6: 90,598,323	N864S	probably damaging	Het
Ang2	A	T	14: 51,195,760	V55E	probably benign	Het
Ank2	A	G	3: 126,965,013	M179T	possibly damaging	Het
Atrnl1	T	A	19: 57,740,183	C1090*	probably null	Het
Atxn1l	A	G	8: 109,733,234	L132P	probably damaging	Het
Bptf	A	G	11: 107,081,456	V862A	possibly damaging	Het
Capn11	C	A	17: 45,643,781	K143N	probably damaging	Het
Card6	A	G	15: 5,099,787	V709A	possibly damaging	Het
Cavin4	C	T	4: 48,671,984	A143V	probably benign	Het
Cntn5	A	G	9: 9,984,128	I160T	probably benign	Het
Cyp2c40	T	A	19: 39,767,338	N511Y	probably benign	Het
Dsc2	A	T	18: 20,041,778	I480N	probably damaging	Het
Elf2	G	T	3: 51,265,964		probably benign	Het
Enoph1	T	C	5: 100,062,160	V133A	possibly damaging	Het
Ezh2	A	T	6: 47,554,191	D186E	probably benign	Het
Fam196b	T	C	11: 34,402,539	S194P	probably benign	Het
Gfra1	T	C	19: 58,453,457	D14G	possibly damaging	Het
Gm9573	T	C	17: 35,622,836	T153A	unknown	Het
Gmip	C	T	8: 69,817,733	R698W	probably damaging	Het
Grk4	A	G	5: 34,694,816	N135D	probably benign	Het
Hspb6	A	G	7: 30,554,347	D95G	probably benign	Het
Htatip2	T	G	7: 49,770,884	H159Q	possibly damaging	Het
Igfn1	T	C	1: 135,969,036	E1264G	probably benign	Het
Katnb1	T	A	8: 95,095,208	V223E	possibly damaging	Het
Klra6	AGG	AG	6: 130,013,352		probably null	Het
Masp2	C	T	4: 148,602,747	R29C	probably damaging	Het
Mcm3	A	T	1: 20,817,274	C123*	probably null	Het
Mdn1	T	C	4: 32,718,420	V2225A	probably damaging	Het
Me1	A	G	9: 86,679,900	L44S	probably damaging	Het
Mlxip	A	G	5: 123,445,514	N380S	probably benign	Het
Myh14	C	T	7: 44,661,040	V140I	probably damaging	Het
Myocd	A	T	11: 65,218,626	D106E	probably damaging	Het
Oat	T	C	7: 132,558,259	I411V	probably benign	Het
Olfr1085	A	G	2: 86,658,029	V143A	probably benign	Het
Olfr483	T	C	7: 108,103,648	V113A	probably benign	Het
Olfr715	A	T	7: 107,128,718	V225D	probably damaging	Het
Orc2	A	T	1: 58,480,317	H246Q	possibly damaging	Het
Pank4	A	G	4: 154,974,643	E411G	probably damaging	Het
Patl2	A	T	2: 122,126,774		probably null	Het
Pcdhb15	A	G	18: 37,475,163	N483D	probably damaging	Het
Pcdhb20	A	G	18: 37,505,651	D410G	probably damaging	Het
Pdcl2	A	G	5: 76,317,999	C125R	probably damaging	Het
Peli3	C	G	19: 4,934,556		probably null	Het
Pkd1	A	G	17: 24,586,500	D3313G	probably benign	Het
Plec	A	C	15: 76,177,439	M2766R	probably damaging	Het
Ppargc1a	C	T	5: 51,498,162	V99M	probably damaging	Het
Psg19	G	A	7: 18,792,443	A374V	probably benign	Het
Ptbp2	C	T	3: 119,720,988	G397R	probably null	Het
Ranbp3	A	G	17: 56,696,718	D39G	probably damaging	Het
Rcor3	T	C	1: 192,101,721	T406A	probably benign	Het
Rhbdl2	T	A	4: 123,824,919	I222K	probably damaging	Het
Ripk2	T	C	4: 16,151,968	N197S	possibly damaging	Het
Rpia	A	T	6: 70,766,618	M283K	probably damaging	Het
Rps6kc1	T	C	1: 190,871,825	D200G	probably benign	Het
Sipa1l1	A	T	12: 82,342,497	K499M	probably damaging	Het
Slc5a4b	A	G	10: 76,070,573	L404P	probably damaging	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,660,334		probably benign	Het
St7	A	C	6: 17,854,999	T312P	probably damaging	Het
Strbp	T	C	2: 37,625,282	E244G	probably damaging	Het
Tbc1d8	T	G	1: 39,376,980	T871P	probably benign	Het
Tcp1	T	A	17: 12,922,162	I286N	probably damaging	Het
Tead3	C	A	17: 28,333,517	V327F	probably damaging	Het
Tmem132c	A	T	5: 127,563,440	T892S	probably benign	Het
Trmt2a	T	C	16: 18,250,623	S65P	probably benign	Het
Ubp1	A	G	9: 113,973,529	N479S	possibly damaging	Het
Ubtfl1	A	T	9: 18,409,231	L18F	possibly damaging	Het
Uevld	T	G	7: 46,938,056	M299L	probably benign	Het
Unc13b	T	A	4: 43,173,854	Y1561N	unknown	Het
Ylpm1	A	G	12: 85,029,122	K874E	probably damaging	Het
Zbtb37	G	A	1: 161,032,232	R168W	possibly damaging	Het

Other mutations in Psmd7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00234:Psmd7	APN	8	107585710	missense	probably damaging	1.00
IGL01296:Psmd7	APN	8	107586617	splice site	probably benign
IGL03077:Psmd7	APN	8	107582467	missense	probably benign	0.44
R0348:Psmd7	UTSW	8	107580891	missense	unknown
R1460:Psmd7	UTSW	8	107581059	missense	possibly damaging	0.59
R1715:Psmd7	UTSW	8	107581185	missense	probably benign	0.05
R1857:Psmd7	UTSW	8	107584893	missense	probably damaging	1.00
R7780:Psmd7	UTSW	8	107581288	missense	possibly damaging	0.46
R8794:Psmd7	UTSW	8	107584199	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAAATAGGAGCTTCAGACTGTAG -3'
(R):5'- TTCCTACGGGAACTAACCTGTTAC -3'

Sequencing Primer
(F):5'- TACAACTCACTTTGTAGACCAGGCTG -3'
(R):5'- CGGGAACTAACCTGTTACATTTG -3'

Posted On

2019-11-12