Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01585:Psmg1'

93324

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Psmg1

Ensembl Gene

ENSMUSG00000022913

Gene Name

proteasome (prosome, macropain) assembly chaperone 1

Synonyms

Dscr2

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01585

Quality Score

Status

Chromosome

Chromosomal Location

95781133-95792160 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 95789221 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 112 (T112I)

Ref Sequence

ENSEMBL: ENSMUSP00000113102 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023630] [ENSMUST00000023631] [ENSMUST00000099502] [ENSMUST00000117044] [ENSMUST00000149066]

AlphaFold

Q9JK23

Predicted Effect

probably benign
Transcript: ENSMUST00000023630
AA Change: T112I

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000023631

SMART Domains

Protein: ENSMUSP00000023631
Gene: ENSMUSG00000022914

Domain	Start	End	E-Value	Type
low complexity region	36	48	N/A	INTRINSIC
WD40	175	214	1.3e-7	SMART
WD40	217	256	2.26e-7	SMART
WD40	259	302	1.83e-7	SMART
WD40	311	352	3.82e1	SMART
WD40	357	396	4.27e-8	SMART
WD40	417	454	8.59e-1	SMART
WD40	457	497	1.47e-6	SMART
WD40	504	544	9.21e0	SMART
low complexity region	660	676	N/A	INTRINSIC
low complexity region	753	767	N/A	INTRINSIC
low complexity region	852	868	N/A	INTRINSIC
low complexity region	906	927	N/A	INTRINSIC
BROMO	1156	1267	1.72e-6	SMART
low complexity region	1277	1292	N/A	INTRINSIC
BROMO	1317	1422	2.65e-30	SMART
low complexity region	1497	1513	N/A	INTRINSIC
low complexity region	1543	1558	N/A	INTRINSIC
internal_repeat_1	1574	1762	1.42e-9	PROSPERO
low complexity region	1764	1775	N/A	INTRINSIC
internal_repeat_1	1857	2050	1.42e-9	PROSPERO
low complexity region	2165	2174	N/A	INTRINSIC
low complexity region	2260	2270	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000099502

SMART Domains

Protein: ENSMUSP00000097101
Gene: ENSMUSG00000022914

Domain	Start	End	E-Value	Type
low complexity region	36	48	N/A	INTRINSIC
WD40	175	214	1.3e-7	SMART
WD40	217	256	2.26e-7	SMART
WD40	259	302	1.83e-7	SMART
WD40	311	352	3.82e1	SMART
WD40	357	396	4.27e-8	SMART
WD40	417	454	8.59e-1	SMART
WD40	457	497	1.47e-6	SMART
WD40	504	544	9.21e0	SMART
low complexity region	660	676	N/A	INTRINSIC
low complexity region	753	767	N/A	INTRINSIC
low complexity region	852	868	N/A	INTRINSIC
low complexity region	906	927	N/A	INTRINSIC
BROMO	1156	1267	1.72e-6	SMART
low complexity region	1277	1292	N/A	INTRINSIC
BROMO	1317	1422	2.65e-30	SMART
low complexity region	1497	1513	N/A	INTRINSIC
low complexity region	1543	1558	N/A	INTRINSIC
internal_repeat_1	1574	1762	1.42e-9	PROSPERO
low complexity region	1764	1775	N/A	INTRINSIC
internal_repeat_1	1857	2050	1.42e-9	PROSPERO
low complexity region	2165	2174	N/A	INTRINSIC
low complexity region	2260	2270	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117044
AA Change: T112I

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000149066

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150692

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele die by E6.5. Mice homozygous for a conditional allele activated in the brain exhibit abnormal brain development, neurological defects, and die by P21. Mice homozygous for a conditional allele activated in the liver exhibit premature hepatocyte senescence. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,359,045 (GRCm39)	D587G	probably benign	Het
Adcy1	T	A	11: 7,117,143 (GRCm39)	N1003K	probably damaging	Het
Alpk1	T	C	3: 127,473,462 (GRCm39)	D847G	probably benign	Het
Atp5f1a	T	C	18: 77,868,758 (GRCm39)	V417A	possibly damaging	Het
Avp	A	C	2: 130,422,629 (GRCm39)	S159A	probably benign	Het
Brca2	C	A	5: 150,462,981 (GRCm39)	A915D	possibly damaging	Het
Cdc42bpg	G	A	19: 6,370,462 (GRCm39)	R1185H	possibly damaging	Het
Cdcp3	T	G	7: 130,846,487 (GRCm39)	V637G	probably damaging	Het
Clrn2	A	G	5: 45,617,500 (GRCm39)	I124V	probably benign	Het
Cntn4	A	T	6: 106,595,289 (GRCm39)	K469*	probably null	Het
Cxcl1	T	A	5: 91,039,583 (GRCm39)	N70K	probably damaging	Het
Dbf4	A	G	5: 8,458,492 (GRCm39)		probably null	Het
Fbn1	A	T	2: 125,202,030 (GRCm39)	V1281E	probably damaging	Het
Fgfr3	A	T	5: 33,891,305 (GRCm39)	Q523L	probably damaging	Het
Golga5	A	G	12: 102,445,954 (GRCm39)	K403R	probably benign	Het
Gpr22	A	G	12: 31,759,336 (GRCm39)	I262T	probably benign	Het
Gstm3	G	T	3: 107,873,474 (GRCm39)	Q166K	probably benign	Het
Ilf2	T	A	3: 90,391,849 (GRCm39)	N183K	probably damaging	Het
Ip6k2	T	A	9: 108,673,512 (GRCm39)	L40Q	probably damaging	Het
Itga8	A	T	2: 12,165,123 (GRCm39)		probably benign	Het
Lbr	T	A	1: 181,653,208 (GRCm39)	R70*	probably null	Het
Lilra6	T	C	7: 3,917,498 (GRCm39)	T166A	probably benign	Het
Map3k4	T	C	17: 12,467,846 (GRCm39)	K1063E	probably damaging	Het
Msi1	T	C	5: 115,568,949 (GRCm39)		probably null	Het
Pam	A	G	1: 97,792,197 (GRCm39)	V408A	probably damaging	Het
Plxna1	A	G	6: 89,306,538 (GRCm39)		probably null	Het
Ppp1r36	A	T	12: 76,485,891 (GRCm39)		probably null	Het
Prrt4	A	G	6: 29,177,689 (GRCm39)	S27P	probably benign	Het
Rfx7	T	G	9: 72,524,343 (GRCm39)	I511S	probably benign	Het
Ros1	G	A	10: 52,031,198 (GRCm39)	T481M	probably damaging	Het
Scfd1	A	G	12: 51,462,336 (GRCm39)	D397G	probably damaging	Het
Sel1l3	A	G	5: 53,311,578 (GRCm39)	Y636H	probably damaging	Het
Sgms1	T	G	19: 32,120,245 (GRCm39)	R220S	probably damaging	Het
Slc37a3	A	T	6: 39,314,196 (GRCm39)	I472N	probably damaging	Het
Syne2	A	G	12: 75,995,834 (GRCm39)		probably null	Het
Tert	T	C	13: 73,782,463 (GRCm39)	V579A	probably benign	Het
Ush2a	A	T	1: 188,162,924 (GRCm39)	H1002L	probably damaging	Het

Other mutations in Psmg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00335:Psmg1	APN	16	95,781,268 (GRCm39)	missense	possibly damaging	0.83
IGL02597:Psmg1	APN	16	95,788,497 (GRCm39)	missense	probably damaging	1.00
R0306:Psmg1	UTSW	16	95,788,540 (GRCm39)	missense	probably damaging	1.00
R0362:Psmg1	UTSW	16	95,789,171 (GRCm39)	missense	possibly damaging	0.91
R0506:Psmg1	UTSW	16	95,790,687 (GRCm39)	unclassified	probably benign
R2566:Psmg1	UTSW	16	95,783,395 (GRCm39)	nonsense	probably null
R3014:Psmg1	UTSW	16	95,781,248 (GRCm39)	missense	probably damaging	1.00
R4944:Psmg1	UTSW	16	95,790,812 (GRCm39)	unclassified	probably benign
R5048:Psmg1	UTSW	16	95,785,171 (GRCm39)	missense	probably benign	0.34
R5771:Psmg1	UTSW	16	95,783,369 (GRCm39)	missense	probably damaging	1.00
R6086:Psmg1	UTSW	16	95,781,244 (GRCm39)	missense	probably damaging	1.00
R6499:Psmg1	UTSW	16	95,789,297 (GRCm39)	missense	probably damaging	1.00
R9282:Psmg1	UTSW	16	95,790,717 (GRCm39)	missense	probably damaging	0.99
X0066:Psmg1	UTSW	16	95,788,520 (GRCm39)	missense	probably benign	0.19

Posted On

2013-12-09