Mutagenetix > Incidental Mutation

Incidental Mutation 'R1563:Psmd3'

170773

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

039602-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R1563 (G1)

Quality Score

186

Status

Validated

Chromosome

Chromosomal Location

98573380-98586804 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 98585051 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 466 (R466W)

Ref Sequence

ENSEMBL: ENSMUSP00000017365 (fasta)

Gene Model

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

AlphaFold

P14685

Predicted Effect

probably damaging
Transcript: ENSMUST00000017365
AA Change: R466W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000017365
Gene: ENSMUSG00000017221
AA Change: R466W

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142790

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149489

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152102

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.4%

Validation Efficiency

98% (82/84)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519G04Rik	T	C	5: 115,001,569 (GRCm39)	M22T	probably benign	Het
A930018M24Rik	A	G	14: 51,134,576 (GRCm39)	L22P	probably damaging	Het
Aipl1	A	T	11: 71,927,538 (GRCm39)	M59K	probably damaging	Het
Atg2b	T	C	12: 105,589,747 (GRCm39)	I1835V	probably damaging	Het
Cacna1i	A	T	15: 80,274,056 (GRCm39)		probably benign	Het
Cacna1i	T	C	15: 80,205,389 (GRCm39)	V115A	probably damaging	Het
Catsperb	T	A	12: 101,554,361 (GRCm39)	M685K	probably damaging	Het
Cdh10	T	A	15: 18,986,853 (GRCm39)	Y361*	probably null	Het
Clcn4	C	T	7: 7,296,981 (GRCm39)	C219Y	probably damaging	Het
Cpeb2	G	A	5: 43,443,080 (GRCm39)	V924M	probably damaging	Het
Cpxm2	T	C	7: 131,745,411 (GRCm39)	E138G	probably benign	Het
Dennd1a	T	C	2: 37,748,441 (GRCm39)	Y346C	probably damaging	Het
Dnah8	T	A	17: 30,854,638 (GRCm39)	L100Q	probably benign	Het
Dnajc6	A	C	4: 101,456,334 (GRCm39)	N76T	probably damaging	Het
Ehbp1	A	G	11: 22,009,231 (GRCm39)	L954P	probably damaging	Het
Eral1	A	T	11: 77,966,232 (GRCm39)	D315E	probably benign	Het
Fbln2	G	T	6: 91,240,365 (GRCm39)	E724*	probably null	Het
Fyco1	A	G	9: 123,656,247 (GRCm39)		probably benign	Het
Fzd3	T	A	14: 65,473,173 (GRCm39)	E198D	probably damaging	Het
Fzd9	T	C	5: 135,279,408 (GRCm39)	N159S	probably damaging	Het
Galnt6	T	A	15: 100,601,259 (GRCm39)	Q340L	probably benign	Het
Gm20939	C	T	17: 95,184,522 (GRCm39)	A390V	probably damaging	Het
Gm5435	T	G	12: 82,542,464 (GRCm39)		noncoding transcript	Het
Gm9949	A	C	18: 62,317,089 (GRCm39)		probably benign	Het
Gprc5b	G	A	7: 118,582,984 (GRCm39)	T295I	probably benign	Het
Gria2	G	T	3: 80,598,704 (GRCm39)	Q777K	probably damaging	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Haao	T	C	17: 84,142,318 (GRCm39)	T174A	probably benign	Het
Hes6	A	T	1: 91,340,858 (GRCm39)	M1K	probably null	Het
Hook3	G	T	8: 26,600,780 (GRCm39)	Q43K	probably benign	Het
Klhl35	T	C	7: 99,120,902 (GRCm39)	V390A	probably damaging	Het
Myh9	G	T	15: 77,656,057 (GRCm39)	T1151K	probably damaging	Het
Nbn	A	T	4: 15,981,668 (GRCm39)	I587F	possibly damaging	Het
Nek4	A	G	14: 30,704,408 (GRCm39)	D696G	probably damaging	Het
Niban1	A	T	1: 151,591,424 (GRCm39)	Y522F	possibly damaging	Het
Nlrp2	T	C	7: 5,311,724 (GRCm39)	D52G	probably damaging	Het
Oit3	G	T	10: 59,263,896 (GRCm39)	R413S	probably damaging	Het
Or4k48	T	A	2: 111,476,027 (GRCm39)	H105L	probably damaging	Het
Or6c1b	A	G	10: 129,273,580 (GRCm39)	M300V	probably benign	Het
Otof	T	C	5: 30,528,349 (GRCm39)	T1870A	probably benign	Het
Pdgfd	T	C	9: 6,293,939 (GRCm39)		probably null	Het
Pitrm1	T	C	13: 6,613,506 (GRCm39)	V526A	possibly damaging	Het
Pknox1	T	C	17: 31,814,256 (GRCm39)	S194P	probably damaging	Het
Plekhg5	T	C	4: 152,181,266 (GRCm39)	S8P	probably benign	Het
Ppp1r13b	T	C	12: 111,807,416 (GRCm39)	E157G	probably damaging	Het
Ptgfrn	A	G	3: 100,967,967 (GRCm39)	F542S	possibly damaging	Het
Ptgs1	A	T	2: 36,135,214 (GRCm39)	M393L	possibly damaging	Het
Qpct	T	A	17: 79,371,492 (GRCm39)	S87T	probably benign	Het
Qtrt1	T	A	9: 21,330,607 (GRCm39)	V269D	probably benign	Het
Rassf9	C	G	10: 102,380,821 (GRCm39)	R68G	probably damaging	Het
Relch	A	G	1: 105,647,259 (GRCm39)	Y707C	probably damaging	Het
Rif1	A	G	2: 51,963,235 (GRCm39)	E25G	probably damaging	Het
Rnf213	T	C	11: 119,305,352 (GRCm39)	F528L	probably benign	Het
Sgip1	T	C	4: 102,823,457 (GRCm39)	S693P	probably benign	Het
She	A	G	3: 89,761,921 (GRCm39)	D460G	probably benign	Het
Sipa1l1	G	T	12: 82,387,935 (GRCm39)	V54L	probably benign	Het
Slc8a3	T	A	12: 81,251,781 (GRCm39)	D640V	possibly damaging	Het
Smurf1	T	A	5: 144,819,323 (GRCm39)	E601D	probably damaging	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Synpo2l	A	G	14: 20,711,346 (GRCm39)	S425P	probably damaging	Het
Tbck	T	C	3: 132,421,454 (GRCm39)	V187A	possibly damaging	Het
Tcf23	A	T	5: 31,126,175 (GRCm39)	H18L	probably benign	Het
Tcp11l2	A	G	10: 84,420,808 (GRCm39)	S16G	probably damaging	Het
Tekt2	T	A	4: 126,217,200 (GRCm39)	M233L	probably benign	Het
Tex14	T	C	11: 87,427,634 (GRCm39)	S29P	probably damaging	Het
Tjp2	T	A	19: 24,110,067 (GRCm39)	N59I	probably damaging	Het
Tlr5	G	A	1: 182,802,575 (GRCm39)	M626I	probably benign	Het
Tnn	A	T	1: 159,952,985 (GRCm39)	V685D	probably damaging	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Trhr	G	A	15: 44,060,497 (GRCm39)	V6I	probably benign	Het
Trim30c	C	T	7: 104,032,158 (GRCm39)	R301Q	probably benign	Het
Usp51	T	C	X: 151,790,988 (GRCm39)	I194T	probably benign	Het
Vmn2r63	A	G	7: 42,553,550 (GRCm39)	S569P	probably benign	Het
Vps26a	T	G	10: 62,300,459 (GRCm39)	I236L	probably benign	Het
Zc3h7b	C	T	15: 81,661,289 (GRCm39)	P376L	probably benign	Het
Zcchc14	T	C	8: 122,330,718 (GRCm39)	M882V	probably benign	Het
Zfhx2	A	G	14: 55,302,545 (GRCm39)	V1813A	probably benign	Het
Zswim2	C	T	2: 83,745,626 (GRCm39)	G604D	possibly damaging	Het
Zzef1	C	T	11: 72,739,559 (GRCm39)	Q669*	probably null	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
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

PCR Primer
(F):5'- GGTTCAGCAGTAACCCAGTCTCATC -3'
(R):5'- TCCCTGACATGCTACAGAAGGCAC -3'

Sequencing Primer
(F):5'- AGTCTCATCAGGAAATGCCAG -3'
(R):5'- CACCGTACATCAGTGGTTTG -3'

Posted On

2014-04-13