Mutagenetix > Incidental Mutation

Incidental Mutation 'R6956:Psmd3'

541470

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

045067-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R6956 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98573380-98586804 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 98586377 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 515 (L515Q)

Ref Sequence

ENSEMBL: ENSMUSP00000017365 (fasta)

Gene Model

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

AlphaFold

P14685

Predicted Effect

probably damaging
Transcript: ENSMUST00000017365
AA Change: L515Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000017365
Gene: ENSMUSG00000017221
AA Change: L515Q

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

probably benign
Transcript: ENSMUST00000123676

SMART Domains

Protein: ENSMUSP00000116968
Gene: ENSMUSG00000017221

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.7%

Validation Efficiency

100% (43/43)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	G	A	8: 111,781,762 (GRCm39)	V945M	probably benign	Het
Amotl2	A	G	9: 102,601,967 (GRCm39)	T371A	probably damaging	Het
Bmpr1a	A	G	14: 34,163,132 (GRCm39)	I86T	possibly damaging	Het
C9	A	T	15: 6,474,945 (GRCm39)	M35L	probably benign	Het
Cc2d1a	G	T	8: 84,862,528 (GRCm39)	P661T	probably damaging	Het
Ccdc202	T	A	14: 96,119,869 (GRCm39)	W209R	probably damaging	Het
Dcdc2a	T	A	13: 25,303,349 (GRCm39)	S293R	probably benign	Het
Dchs2	T	A	3: 83,261,233 (GRCm39)	N2500K	probably benign	Het
Dicer1	A	G	12: 104,697,282 (GRCm39)	S92P	probably damaging	Het
Dnah7a	T	A	1: 53,616,446 (GRCm39)	I1172F	probably benign	Het
Dnajc6	A	G	4: 101,471,470 (GRCm39)	S364G	probably damaging	Het
Dpp6	A	T	5: 27,803,819 (GRCm39)	N255I	probably damaging	Het
Eif2ak4	T	C	2: 118,252,748 (GRCm39)	I440T	probably damaging	Het
Fam184b	T	C	5: 45,688,099 (GRCm39)	T937A	probably damaging	Het
Fam229b	T	A	10: 39,009,843 (GRCm39)		probably null	Het
Gbp11	A	G	5: 105,476,241 (GRCm39)		probably null	Het
Gipc2	A	G	3: 151,799,885 (GRCm39)	F282L	probably benign	Het
Gpt2	G	A	8: 86,244,681 (GRCm39)	E325K	probably benign	Het
H2-T3	T	A	17: 36,500,263 (GRCm39)	Y144F	probably damaging	Het
Kel	T	G	6: 41,664,907 (GRCm39)	D7A	probably damaging	Het
Lrrc7	A	G	3: 157,994,668 (GRCm39)	V166A	probably benign	Het
Mapt	T	C	11: 104,209,081 (GRCm39)		probably null	Het
Marchf3	A	G	18: 56,909,053 (GRCm39)	V244A	probably benign	Het
Mboat1	T	C	13: 30,422,059 (GRCm39)	V396A	possibly damaging	Het
Mphosph9	T	C	5: 124,435,621 (GRCm39)	D604G	probably damaging	Het
Muc16	T	C	9: 18,556,322 (GRCm39)	T3324A	unknown	Het
Nalf1	T	A	8: 9,820,744 (GRCm39)	Q92L	probably benign	Het
Nat10	T	C	2: 103,564,757 (GRCm39)	I495V	probably benign	Het
Or6c208	A	T	10: 129,224,166 (GRCm39)	K221N	probably benign	Het
Pfkfb2	T	C	1: 130,635,337 (GRCm39)	N75D	probably damaging	Het
Rpgrip1l	A	C	8: 92,012,941 (GRCm39)		probably null	Het
Scube1	T	C	15: 83,606,077 (GRCm39)	Y65C	probably damaging	Het
Slc12a4	A	G	8: 106,680,484 (GRCm39)	F211L	probably damaging	Het
Socs7	T	C	11: 97,267,849 (GRCm39)	S327P	probably benign	Het
Spef2	A	T	15: 9,685,021 (GRCm39)	D591E	probably damaging	Het
Sult2a6	T	A	7: 13,988,748 (GRCm39)	D4V	possibly damaging	Het
Tdpoz8	T	C	3: 92,981,279 (GRCm39)	V25A	possibly damaging	Het
Tdrd9	A	G	12: 112,002,788 (GRCm39)		probably benign	Het
Tgm4	G	T	9: 122,893,768 (GRCm39)	M155I	possibly damaging	Het
Togaram2	T	C	17: 72,036,183 (GRCm39)	V891A	probably benign	Het
Usp1	A	G	4: 98,819,243 (GRCm39)	E235G	probably damaging	Het
Usp2	T	A	9: 44,004,053 (GRCm39)	V533E	probably damaging	Het
Vcan	T	A	13: 89,837,550 (GRCm39)	I2665F	probably damaging	Het
Vmn2r31	G	A	7: 7,397,505 (GRCm39)	S251L	probably benign	Het
Vmn2r84	C	A	10: 130,225,136 (GRCm39)	C458F	probably damaging	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
R1368:Psmd3	UTSW	11	98,573,746 (GRCm39)	missense	probably damaging	1.00
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
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

PCR Primer
(F):5'- CCTACAACAAGGACCTGGAG -3'
(R):5'- TGTCACCAGCTACAGAGAGG -3'

Sequencing Primer
(F):5'- TACAACAAGGACCTGGAGTCTGC -3'
(R):5'- ATCCCTGACCCCTGCACATATG -3'

Posted On

2018-11-28