Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01571:Psmg2'

278724

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Psmg2

Ensembl Gene

ENSMUSG00000024537

Gene Name

proteasome (prosome, macropain) assembly chaperone 2

Synonyms

Tnfsf5ip1, 1700017I17Rik, Clast3

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.953) question?

Stock #

IGL01571

Quality Score

Status

Chromosome

Chromosomal Location

67641599-67654162 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 67653223 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 218 (V218I)

Ref Sequence

ENSEMBL: ENSMUSP00000025418 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025418]

AlphaFold

Q9EST4

Predicted Effect

probably benign
Transcript: ENSMUST00000025418
AA Change: V218I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000025418
Gene: ENSMUSG00000024537
AA Change: V218I

Domain	Start	End	E-Value	Type
Pfam:PAC2	17	230	3.8e-38	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AB124611	T	A	9: 21,539,081		probably benign	Het
Cep164	T	C	9: 45,794,338	Q127R	possibly damaging	Het
Ces1f	T	A	8: 93,258,368	M444L	probably benign	Het
Chd5	T	A	4: 152,384,115		probably benign	Het
Cpd	T	A	11: 76,782,296	Y1341F	probably damaging	Het
Cryz	T	C	3: 154,621,743	I268T	probably damaging	Het
Csnk2a1	G	A	2: 152,275,406	R278H	probably damaging	Het
Cyp4a12b	A	G	4: 115,438,157	I487V	probably benign	Het
Dnajb5	T	C	4: 42,956,516		probably benign	Het
Dxo	A	T	17: 34,839,040	H214L	probably damaging	Het
Etfb	T	C	7: 43,452,959		probably null	Het
G6pc2	G	A	2: 69,222,967	V122I	probably damaging	Het
Gm5431	A	T	11: 48,894,713	D278E	probably benign	Het
Gstt2	C	T	10: 75,834,171		probably benign	Het
Hnf4g	A	C	3: 3,651,266		probably benign	Het
Ifi44	T	C	3: 151,745,537	D259G	probably damaging	Het
Klk1	T	C	7: 44,228,596	V92A	probably damaging	Het
Lypla1	T	C	1: 4,844,988	I222T	probably benign	Het
Nbeal2	T	C	9: 110,632,758	N1510D	possibly damaging	Het
Ndufaf7	A	G	17: 78,943,852	R229G	probably damaging	Het
Nphp4	G	A	4: 152,556,382	V1069M	probably benign	Het
Nsd2	A	G	5: 33,864,687	H528R	probably benign	Het
Olfr1298	C	A	2: 111,645,380	V206L	probably benign	Het
Olfr1355	A	G	10: 78,879,837	I222V	possibly damaging	Het
Olfr763	A	T	10: 129,011,827	I181F	probably damaging	Het
Pigh	A	C	12: 79,085,860		probably benign	Het
Prr14l	A	T	5: 32,828,806	M1115K	probably benign	Het
Psg21	T	C	7: 18,654,825	D114G	probably damaging	Het
Pygb	T	C	2: 150,830,473	S831P	probably benign	Het
Ryr2	T	A	13: 11,721,761	D2260V	probably damaging	Het
Sgo2a	T	C	1: 58,017,974	S1106P	probably damaging	Het
Slc5a5	G	A	8: 70,891,332		probably benign	Het
Tekt4	A	G	17: 25,476,384	D397G	probably benign	Het
Trrap	T	A	5: 144,833,287		probably benign	Het
Upf2	T	C	2: 6,018,939		probably benign	Het
Usp17lb	A	T	7: 104,840,381	N445K	possibly damaging	Het
Vmn2r111	A	G	17: 22,571,392	V211A	probably damaging	Het
Vmn2r23	A	G	6: 123,704,407	I91M	probably damaging	Het
Vps13b	C	T	15: 35,877,489		probably benign	Het
Zc3hc1	G	A	6: 30,390,863	T47I	probably benign	Het

Other mutations in Psmg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01550:Psmg2	APN	18	67653223	missense	probably benign
IGL01557:Psmg2	APN	18	67653223	missense	probably benign
IGL01560:Psmg2	APN	18	67653223	missense	probably benign
IGL01563:Psmg2	APN	18	67653223	missense	probably benign
IGL01569:Psmg2	APN	18	67653223	missense	probably benign
IGL01570:Psmg2	APN	18	67653223	missense	probably benign
IGL01574:Psmg2	APN	18	67653223	missense	probably benign
IGL01586:Psmg2	APN	18	67653223	missense	probably benign
IGL01611:Psmg2	APN	18	67653223	missense	probably benign
IGL01615:Psmg2	APN	18	67653223	missense	probably benign
IGL01617:Psmg2	APN	18	67653223	missense	probably benign
IGL01630:Psmg2	APN	18	67653223	missense	probably benign
IGL03064:Psmg2	APN	18	67646032	nonsense	probably null
R0757:Psmg2	UTSW	18	67646025	frame shift	probably null
R1320:Psmg2	UTSW	18	67644321	missense	probably damaging	0.98
R1363:Psmg2	UTSW	18	67646025	frame shift	probably null
R1368:Psmg2	UTSW	18	67646025	frame shift	probably null
R1759:Psmg2	UTSW	18	67648176	missense	probably benign	0.04
R1761:Psmg2	UTSW	18	67646025	frame shift	probably null
R2696:Psmg2	UTSW	18	67648218	missense	possibly damaging	0.88
R4806:Psmg2	UTSW	18	67648922	missense	probably benign	0.14
R4916:Psmg2	UTSW	18	67648856	missense	probably damaging	1.00
R5737:Psmg2	UTSW	18	67646037	missense	possibly damaging	0.95
R6620:Psmg2	UTSW	18	67641737	critical splice donor site	probably null
R6823:Psmg2	UTSW	18	67648857	missense	possibly damaging	0.63
R7147:Psmg2	UTSW	18	67653268	missense	probably benign	0.03
R8547:Psmg2	UTSW	18	67646007	missense	possibly damaging	0.71
R8826:Psmg2	UTSW	18	67654088	utr 3 prime	probably benign
Z1177:Psmg2	UTSW	18	67653174	missense	probably benign	0.00

Posted On

2015-04-16