Mutagenetix > Incidental Mutation

Incidental Mutation 'R1368:Psmd3'

262753

Institutional Source

Beutler Lab

Gene Symbol

Psmd3

Ensembl Gene

ENSMUSG00000017221

Gene Name

proteasome (prosome, macropain) 26S subunit, non-ATPase, 3

Synonyms

Tstap91a, AntP91a, Psd3

MMRRC Submission

039433-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R1368 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

98573380-98586804 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98573746 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 64 (D64G)

Ref Sequence

ENSEMBL: ENSMUSP00000017365 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017365]

AlphaFold

P14685

Predicted Effect

probably damaging
Transcript: ENSMUST00000017365
AA Change: D64G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000017365
Gene: ENSMUSG00000017221
AA Change: D64G

Domain	Start	End	E-Value	Type
low complexity region	14	31	N/A	INTRINSIC
low complexity region	37	51	N/A	INTRINSIC
PAM	217	389	1.07e-68	SMART
PINT	389	479	3.26e-27	SMART
coiled coil region	495	527	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122854

Predicted Effect

probably benign
Transcript: ENSMUST00000123676

SMART Domains

Protein: ENSMUSP00000116968
Gene: ENSMUSG00000017221

Domain	Start	End	E-Value	Type
PAM	2	198	2.1e-62	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149489

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152102

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

98% (55/56)

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. This gene encodes a member of the proteasome subunit S3 family that functions as one of the non-ATPase subunits of the 19S regulator lid. Single nucleotide polymorphisms in this gene are associated with neutrophil count. [provided by RefSeq, Jul 2012]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,241,836 (GRCm39)	D1233G	probably benign	Het
Abcc8	G	A	7: 45,772,284 (GRCm39)	R832W	probably damaging	Het
Atp10b	A	G	11: 43,092,981 (GRCm39)	T439A	probably damaging	Het
Brd10	C	A	19: 29,693,796 (GRCm39)	S1966I	probably damaging	Het
C130073F10Rik	T	A	4: 101,747,953 (GRCm39)	N74Y	possibly damaging	Het
Cct8	G	A	16: 87,288,200 (GRCm39)	S124L	probably damaging	Het
Cdh9	T	A	15: 16,848,568 (GRCm39)		probably benign	Het
Cep290	C	T	10: 100,330,828 (GRCm39)		probably benign	Het
Chrng	T	A	1: 87,133,575 (GRCm39)	L10H	probably damaging	Het
Cnn3	T	C	3: 121,250,786 (GRCm39)	L189S	probably benign	Het
Cog4	A	G	8: 111,585,157 (GRCm39)		probably benign	Het
Cxcl12	A	G	6: 117,153,111 (GRCm39)		probably benign	Het
Eif2b2	G	A	12: 85,270,230 (GRCm39)	A257T	probably damaging	Het
Entrep2	A	T	7: 64,469,625 (GRCm39)	V41E	probably damaging	Het
Fanca	G	A	8: 124,031,020 (GRCm39)		probably benign	Het
Fcgbpl1	A	G	7: 27,858,903 (GRCm39)	Q2341R	possibly damaging	Het
Fktn	G	A	4: 53,734,880 (GRCm39)	G173R	probably damaging	Het
Gabbr2	T	C	4: 46,674,464 (GRCm39)	N841S	probably benign	Het
Gm5622	T	A	14: 51,899,647 (GRCm39)	V167E	possibly damaging	Het
Gnaq	T	C	19: 16,355,651 (GRCm39)	V289A	probably benign	Het
Gpatch2l	T	G	12: 86,307,439 (GRCm39)	D272E	possibly damaging	Het
Gzmg	G	A	14: 56,395,263 (GRCm39)	T74I	probably benign	Het
Ikzf2	G	A	1: 69,578,474 (GRCm39)	A271V	possibly damaging	Het
Lig4	T	C	8: 10,021,176 (GRCm39)	D868G	possibly damaging	Het
Mfsd6	T	C	1: 52,747,764 (GRCm39)	E367G	possibly damaging	Het
Mpz	T	C	1: 170,987,533 (GRCm39)	L223P	probably damaging	Het
Muc17	T	C	5: 137,175,674 (GRCm39)		probably benign	Het
Or2f1b	C	A	6: 42,739,613 (GRCm39)	T209K	possibly damaging	Het
Pdcd2	G	T	17: 15,746,846 (GRCm39)	N104K	probably damaging	Het
Pigg	G	T	5: 108,465,154 (GRCm39)	G129V	probably damaging	Het
Ppp3cc	T	C	14: 70,483,311 (GRCm39)	Y254C	probably damaging	Het
Prl3b1	G	A	13: 27,427,848 (GRCm39)	A53T	probably benign	Het
Psg23	A	G	7: 18,348,645 (GRCm39)	V54A	probably benign	Het
Psmg2	CTTCAGTT	CTTCAGTTCAGTT	18: 67,779,095 (GRCm39)		probably null	Het
Ptgdr	T	A	14: 45,090,799 (GRCm39)	I320F	probably damaging	Het
Rad50	T	A	11: 53,574,072 (GRCm39)	K722*	probably null	Het
Rasl10b	G	A	11: 83,308,665 (GRCm39)		probably null	Het
Rgs9	G	A	11: 109,138,977 (GRCm39)	S255L	probably benign	Het
Ror1	C	T	4: 100,298,334 (GRCm39)	P569L	possibly damaging	Het
Rsad2	T	C	12: 26,497,147 (GRCm39)		probably null	Het
Scn8a	A	G	15: 100,933,422 (GRCm39)	D1501G	probably damaging	Het
Sema3c	A	G	5: 17,883,330 (GRCm39)	T313A	possibly damaging	Het
Serpinc1	T	A	1: 160,821,094 (GRCm39)	F59L	probably damaging	Het
Sike1	A	G	3: 102,903,500 (GRCm39)	D63G	possibly damaging	Het
Slc25a11	T	A	11: 70,536,352 (GRCm39)		probably null	Het
Slc32a1	A	G	2: 158,453,240 (GRCm39)	M27V	probably benign	Het
Smc5	A	G	19: 23,187,807 (GRCm39)	V1003A	probably damaging	Het
Tll2	G	A	19: 41,108,667 (GRCm39)	R328C	probably damaging	Het
Topaz1	A	G	9: 122,577,315 (GRCm39)	E75G	possibly damaging	Het
Tspan3	A	T	9: 56,054,783 (GRCm39)	V48E	probably benign	Het
Ugt1a6b	T	C	1: 88,035,358 (GRCm39)	I232T	probably benign	Het
Unc79	A	G	12: 103,122,772 (GRCm39)	K2290E	probably damaging	Het
Vmn1r19	T	C	6: 57,381,656 (GRCm39)	F70L	probably benign	Het

Other mutations in Psmd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00957:Psmd3	APN	11	98,576,394 (GRCm39)	missense	probably benign	0.06
IGL01353:Psmd3	APN	11	98,581,426 (GRCm39)	missense	probably benign	0.05
R1563:Psmd3	UTSW	11	98,585,051 (GRCm39)	missense	probably damaging	1.00
R2258:Psmd3	UTSW	11	98,581,790 (GRCm39)	missense	probably benign	0.18
R2259:Psmd3	UTSW	11	98,581,790 (GRCm39)	missense	probably benign	0.18
R3606:Psmd3	UTSW	11	98,581,780 (GRCm39)	missense	probably damaging	1.00
R3607:Psmd3	UTSW	11	98,581,780 (GRCm39)	missense	probably damaging	1.00
R4616:Psmd3	UTSW	11	98,573,752 (GRCm39)	missense	probably benign	0.00
R4833:Psmd3	UTSW	11	98,578,586 (GRCm39)	missense	probably damaging	1.00
R5033:Psmd3	UTSW	11	98,573,650 (GRCm39)	missense	probably damaging	1.00
R5585:Psmd3	UTSW	11	98,573,707 (GRCm39)	missense	possibly damaging	0.45
R5687:Psmd3	UTSW	11	98,584,495 (GRCm39)	missense	probably damaging	1.00
R5929:Psmd3	UTSW	11	98,586,422 (GRCm39)	missense	probably damaging	1.00
R6028:Psmd3	UTSW	11	98,576,491 (GRCm39)	missense	probably damaging	0.99
R6240:Psmd3	UTSW	11	98,584,479 (GRCm39)	missense	probably damaging	0.98
R6449:Psmd3	UTSW	11	98,576,466 (GRCm39)	missense	probably benign
R6956:Psmd3	UTSW	11	98,586,377 (GRCm39)	missense	probably damaging	1.00
R7009:Psmd3	UTSW	11	98,573,592 (GRCm39)	missense	probably benign	0.04
R7051:Psmd3	UTSW	11	98,573,659 (GRCm39)	missense	possibly damaging	0.68
R7401:Psmd3	UTSW	11	98,576,466 (GRCm39)	missense	probably benign
R7449:Psmd3	UTSW	11	98,586,377 (GRCm39)	missense	probably damaging	1.00
R7549:Psmd3	UTSW	11	98,581,787 (GRCm39)	missense	probably benign	0.38

Predicted Primers

Posted On

2015-02-04