Mutagenetix > Incidental Mutation

Incidental Mutation 'R0669:Psma3'

62153

Institutional Source

Beutler Lab

Gene Symbol

Psma3

Ensembl Gene

ENSMUSG00000060073

Gene Name

proteasome (prosome, macropain) subunit, alpha type 3

Synonyms

Lmpc8

MMRRC Submission

038854-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.942) question?

Stock #

R0669 (G1)

Quality Score

110

Status

Validated

Chromosome

Chromosomal Location

70974621-70996347 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 70988495 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071704] [ENSMUST00000160027] [ENSMUST00000160864] [ENSMUST00000162626] [ENSMUST00000162851]

AlphaFold

O70435

Predicted Effect

probably benign
Transcript: ENSMUST00000071704

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127129

Predicted Effect

probably benign
Transcript: ENSMUST00000160027

SMART Domains

Protein: ENSMUSP00000125548
Gene: ENSMUSG00000060073

Domain	Start	End	E-Value	Type
Proteasome_A_N	8	30	9.72e-9	SMART
Pfam:Proteasome	31	217	6.2e-53	PFAM
low complexity region	241	253	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160683

Predicted Effect

probably benign
Transcript: ENSMUST00000160864

SMART Domains

Protein: ENSMUSP00000124894
Gene: ENSMUSG00000060073

Domain	Start	End	E-Value	Type
Pfam:Proteasome	1	142	1.7e-38	PFAM
low complexity region	166	178	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162626

Predicted Effect

probably benign
Transcript: ENSMUST00000162851

SMART Domains

Protein: ENSMUSP00000124082
Gene: ENSMUSG00000060073

Domain	Start	End	E-Value	Type
Proteasome_A_N	8	30	9.72e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000162898

SMART Domains

Protein: ENSMUSP00000125490
Gene: ENSMUSG00000060073

Domain	Start	End	E-Value	Type
Pfam:Proteasome	1	53	3.3e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163035

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.8%

Validation Efficiency

99% (80/81)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure 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. 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 member of the peptidase T1A family, that is a 20S core alpha subunit. Two alternative transcripts encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	T	A	11: 72,198,845	H71L	possibly damaging	Het
A230050P20Rik	AGAGGAGGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGAGGAGGA	9: 20,873,717		probably benign	Het
Abcb11	C	A	2: 69,329,318	V10L	probably benign	Het
Abcb9	T	C	5: 124,062,887	T689A	probably damaging	Het
Adam22	A	G	5: 8,143,036		probably benign	Het
Adamts5	A	G	16: 85,899,726	I181T	probably benign	Het
Adamts9	A	T	6: 92,880,957	V231D	probably damaging	Het
Angptl6	C	T	9: 20,876,527	V197M	probably damaging	Het
Atp6v1c1	T	C	15: 38,677,528	V99A	probably benign	Het
Cacna2d3	A	G	14: 29,467,949	V110A	probably benign	Het
Ccdc32	A	G	2: 119,019,167		probably benign	Het
Cela3b	T	C	4: 137,428,530	H22R	probably benign	Het
Cep44	T	C	8: 56,540,973	T190A	possibly damaging	Het
Chsy1	T	C	7: 66,171,687	C557R	probably damaging	Het
Cntd1	A	G	11: 101,287,498	T308A	probably damaging	Het
Cutal	T	C	2: 34,885,866		probably benign	Het
Dgcr14	T	C	16: 17,907,555	Y221C	probably damaging	Het
Dna2	A	G	10: 62,956,989	D261G	probably damaging	Het
Dnhd1	T	A	7: 105,693,704	S1418R	probably benign	Het
Dnpep	A	G	1: 75,311,778		probably benign	Het
Dock7	A	T	4: 98,987,479	Y1075N	probably benign	Het
Eif2s1	C	T	12: 78,881,238		probably benign	Het
Fam69b	A	G	2: 26,634,866	T93A	probably benign	Het
Fer1l6	T	C	15: 58,553,724		probably null	Het
Gm5592	T	C	7: 41,155,830		probably benign	Het
Ipp	A	G	4: 116,537,876	Y536C	probably damaging	Het
Krt72	T	C	15: 101,778,305	E402G	probably damaging	Het
Lamb3	T	C	1: 193,332,330	L599P	probably damaging	Het
Lingo2	T	A	4: 35,709,120	T287S	probably benign	Het
Lipo3	T	A	19: 33,559,625	T232S	probably benign	Het
Lrrc63	G	A	14: 75,126,110	H194Y	probably benign	Het
Map3k13	A	G	16: 21,906,524	T416A	probably benign	Het
Mcm3	A	T	1: 20,804,929		probably null	Het
Mms22l	T	C	4: 24,517,223	V258A	probably benign	Het
Mrpl46	A	T	7: 78,782,883	L49*	probably null	Het
Mrs2	T	C	13: 24,993,759	T369A	possibly damaging	Het
Mtrf1	T	A	14: 79,419,268	Y403*	probably null	Het
Muc20	G	A	16: 32,794,480	P176S	unknown	Het
Mup21	C	T	4: 62,150,727	C9Y	unknown	Het
Mup-ps21	A	T	4: 62,030,770		noncoding transcript	Het
Mybph	T	G	1: 134,197,343		probably null	Het
Mypn	A	G	10: 63,134,923		probably benign	Het
Nav2	T	C	7: 49,408,683	S124P	probably damaging	Het
Nrros	T	C	16: 32,143,423	D556G	probably damaging	Het
Numa1	A	C	7: 101,999,677	I872L	probably benign	Het
Olfr1206	A	T	2: 88,864,928	M108L	probably benign	Het
Olfr13	C	T	6: 43,174,004	T6I	probably benign	Het
Olfr293	A	G	7: 86,664,336	I225V	possibly damaging	Het
Olfr472	T	A	7: 107,903,239	I174K	probably damaging	Het
Olfr92	G	C	17: 37,111,455	L176V	probably benign	Het
Pcdhb9	A	T	18: 37,402,255	N434I	probably damaging	Het
Pigq	A	T	17: 25,936,762		probably null	Het
Plxna2	T	G	1: 194,788,837	V972G	probably damaging	Het
Ptpn13	A	G	5: 103,556,109	T1336A	probably benign	Het
Rdh7	T	C	10: 127,884,729	D258G	probably benign	Het
Serpinb6c	A	G	13: 33,899,269	I54T	probably damaging	Het
Sh2d7	A	T	9: 54,541,349	Y218F	probably benign	Het
Slc12a8	A	T	16: 33,550,904	I137F	possibly damaging	Het
Smarca2	T	C	19: 26,706,200	V1153A	possibly damaging	Het
Smc6	A	T	12: 11,289,164	I334L	probably benign	Het
Sorcs1	A	G	19: 50,241,942		probably benign	Het
Taar8c	A	G	10: 24,101,503	L137P	probably damaging	Het
Tcam1	A	T	11: 106,285,426	D326V	possibly damaging	Het
Telo2	A	T	17: 25,105,823	V461D	probably benign	Het
Tmprss7	A	T	16: 45,677,962	C351*	probably null	Het
Trim66	T	A	7: 109,454,992		probably benign	Het
Ube2d1	G	T	10: 71,262,110	H32N	probably benign	Het
Ubp1	T	C	9: 113,964,668		probably benign	Het
Vma21	C	T	X: 71,820,157	T81M	probably damaging	Het
Vmn1r113	T	C	7: 20,787,420	S46P	probably benign	Het
Wars	T	C	12: 108,866,018	S374G	probably benign	Het
Wbp1	T	C	6: 83,119,345	D277G	possibly damaging	Het
Zfp939	C	A	7: 39,473,785		noncoding transcript	Het

Other mutations in Psma3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01898:Psma3	APN	12	70984674	missense	probably benign	0.17
R0316:Psma3	UTSW	12	70983389	missense	probably benign	0.01
R1933:Psma3	UTSW	12	70984694	missense	probably benign	0.22
R2288:Psma3	UTSW	12	70994371	missense	possibly damaging	0.70
R3745:Psma3	UTSW	12	70978748	missense	possibly damaging	0.86
R4479:Psma3	UTSW	12	70984781	unclassified	probably benign
R5260:Psma3	UTSW	12	70984642	unclassified	probably benign
R5384:Psma3	UTSW	12	70974765	missense	probably damaging	1.00
R5457:Psma3	UTSW	12	70984565	missense	probably benign
R5794:Psma3	UTSW	12	70990497	missense	probably benign	0.00
R8348:Psma3	UTSW	12	70988476	missense	probably damaging	1.00
R8448:Psma3	UTSW	12	70988476	missense	probably damaging	1.00
R8814:Psma3	UTSW	12	70978806	missense	probably benign	0.17
R9275:Psma3	UTSW	12	70994382	missense	probably benign	0.04
R9278:Psma3	UTSW	12	70994382	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- TGCTGTTTCAAGGTCCTTAAGTTCATGT -3'
(R):5'- CTCAGCTCTAGGCGGGGAAGTAA -3'

Sequencing Primer
(F):5'- acaaggttctcaccgtgtag -3'
(R):5'- atccacctgcctctgcc -3'

Posted On

2013-07-30