Mutagenetix > Incidental Mutation

Incidental Mutation 'R4616:Psmd3'

351055

Institutional Source

Beutler Lab

Gene Symbol

Psmd3

Ensembl Gene

ENSMUSG00000017221

Gene Name

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

Synonyms

Psd3, AntP91a, Tstap91a

MMRRC Submission

041827-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R4616 (G1)

Quality Score

192

Status

Validated

Chromosome

Chromosomal Location

98682554-98695979 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98682926 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 66 (V66A)

Ref Sequence

ENSEMBL: ENSMUSP00000017365 (fasta)

Gene Model

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

AlphaFold

P14685

Predicted Effect

probably benign
Transcript: ENSMUST00000017365
AA Change: V66A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000017365
Gene: ENSMUSG00000017221
AA Change: V66A

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

Meta Mutation Damage Score

0.0618

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (64/64)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	G	A	13: 63,298,751 (GRCm38)	E123K	probably damaging	Het
4931417E11Rik	A	G	6: 73,469,269 (GRCm38)	V99A	probably benign	Het
Acod1	C	T	14: 103,055,345 (GRCm38)	T435M	probably benign	Het
Adgrf5	T	C	17: 43,452,440 (GRCm38)	F1078L	probably benign	Het
Adh6a	A	T	3: 138,324,947 (GRCm38)	N110I	probably damaging	Het
Aldh16a1	T	C	7: 45,148,788 (GRCm38)		probably benign	Het
Arhgef17	A	G	7: 100,882,485 (GRCm38)	F1302S	probably damaging	Het
Bcl2a1a	C	T	9: 88,957,453 (GRCm38)	R135W	probably damaging	Het
Bpifa6	T	C	2: 153,982,988 (GRCm38)	S28P	possibly damaging	Het
C9	A	G	15: 6,491,463 (GRCm38)	D51G	probably damaging	Het
Cfb	T	A	17: 34,859,068 (GRCm38)	H962L	probably benign	Het
Chn2	G	A	6: 54,290,403 (GRCm38)	M292I	probably damaging	Het
Clec16a	T	A	16: 10,644,883 (GRCm38)		probably null	Het
Cyp1a1	T	C	9: 57,701,756 (GRCm38)	S307P	probably benign	Het
Dsg3	T	C	18: 20,531,559 (GRCm38)	V538A	probably benign	Het
Erbb3	G	A	10: 128,572,770 (GRCm38)	Q815*	probably null	Het
Fam90a1a	C	A	8: 21,963,846 (GRCm38)	Q406K	possibly damaging	Het
Frmd3	T	C	4: 74,187,872 (GRCm38)	V585A	probably benign	Het
Gm7102	C	T	19: 61,175,926 (GRCm38)	G24R	unknown	Het
Gm8214	T	C	1: 183,681,897 (GRCm38)		noncoding transcript	Het
Gpld1	G	A	13: 24,984,816 (GRCm38)	G771D	probably damaging	Het
Gpr20	T	C	15: 73,695,736 (GRCm38)	N268S	probably benign	Het
Gria2	A	T	3: 80,706,897 (GRCm38)	I612N	probably damaging	Het
Ifit1bl1	T	C	19: 34,594,610 (GRCm38)	E149G	probably damaging	Het
Ighv1-82	T	C	12: 115,952,660 (GRCm38)	T77A	probably benign	Het
Ighv2-9	G	T	12: 113,879,219 (GRCm38)	T76K	probably damaging	Het
Igkv6-13	A	T	6: 70,458,035 (GRCm38)	M1K	probably null	Het
Igkv8-21	A	T	6: 70,315,157 (GRCm38)	S34T	probably benign	Het
Itpr1	A	G	6: 108,481,223 (GRCm38)	N1985D	probably damaging	Het
Lama3	T	C	18: 12,504,397 (GRCm38)		probably null	Het
Lamc2	T	C	1: 153,166,169 (GRCm38)	Y73C	probably damaging	Het
Maff	A	G	15: 79,357,698 (GRCm38)	D105G	probably damaging	Het
Mep1a	C	T	17: 43,486,241 (GRCm38)	V312M	possibly damaging	Het
Mfap4	C	A	11: 61,485,509 (GRCm38)		probably benign	Het
Mrgbp	A	T	2: 180,585,314 (GRCm38)		silent	Het
Mtmr4	T	C	11: 87,610,935 (GRCm38)	L548S	probably damaging	Het
Myo7b	T	C	18: 32,003,487 (GRCm38)		probably null	Het
Myo9a	T	C	9: 59,821,649 (GRCm38)	I596T	probably damaging	Het
Olfr38	G	T	6: 42,762,418 (GRCm38)	R122L	probably benign	Het
Olfr594	C	T	7: 103,220,422 (GRCm38)	R235*	probably null	Het
Pcsk5	T	G	19: 17,560,750 (GRCm38)	Q904H	probably benign	Het
Pdzrn3	G	T	6: 101,152,009 (GRCm38)	H565Q	probably damaging	Het
Phkg2	C	T	7: 127,577,620 (GRCm38)	R61W	probably damaging	Het
Pkd2l1	C	A	19: 44,154,134 (GRCm38)	A490S	probably damaging	Het
Pomgnt1	T	A	4: 116,154,890 (GRCm38)	I337N	probably damaging	Het
Ptger3	T	C	3: 157,567,294 (GRCm38)	S93P	probably damaging	Het
Rbm27	T	A	18: 42,301,775 (GRCm38)	D301E	probably damaging	Het
Rdh16	A	T	10: 127,801,513 (GRCm38)		probably null	Het
Slc35a5	A	T	16: 45,144,292 (GRCm38)	F193I	probably benign	Het
Slc4a4	A	G	5: 89,038,561 (GRCm38)	K167R	probably damaging	Het
Sort1	A	T	3: 108,355,541 (GRCm38)	T772S	possibly damaging	Het
Sptbn5	T	A	2: 120,048,757 (GRCm38)		noncoding transcript	Het
Stard5	G	T	7: 83,633,281 (GRCm38)		probably benign	Het
Tbc1d22a	A	G	15: 86,235,685 (GRCm38)	T61A	probably damaging	Het
Tox2	T	C	2: 163,320,647 (GRCm38)	L479P	probably damaging	Het
Usp53	A	T	3: 122,959,120 (GRCm38)	M80K	probably damaging	Het
Vmn1r209	A	T	13: 22,805,965 (GRCm38)	L185Q	probably damaging	Het
Vmn2r59	A	G	7: 42,012,438 (GRCm38)	I651T	probably benign	Het
Vsig1	G	T	X: 140,926,386 (GRCm38)	A95S	probably benign	Het
Zfhx4	T	C	3: 5,413,067 (GRCm38)	S3556P	possibly damaging	Het

Other mutations in Psmd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00957:Psmd3	APN	11	98,685,568 (GRCm38)	missense	probably benign	0.06
IGL01353:Psmd3	APN	11	98,690,600 (GRCm38)	missense	probably benign	0.05
R1368:Psmd3	UTSW	11	98,682,920 (GRCm38)	missense	probably damaging	1.00
R1563:Psmd3	UTSW	11	98,694,225 (GRCm38)	missense	probably damaging	1.00
R2258:Psmd3	UTSW	11	98,690,964 (GRCm38)	missense	probably benign	0.18
R2259:Psmd3	UTSW	11	98,690,964 (GRCm38)	missense	probably benign	0.18
R3606:Psmd3	UTSW	11	98,690,954 (GRCm38)	missense	probably damaging	1.00
R3607:Psmd3	UTSW	11	98,690,954 (GRCm38)	missense	probably damaging	1.00
R4833:Psmd3	UTSW	11	98,687,760 (GRCm38)	missense	probably damaging	1.00
R5033:Psmd3	UTSW	11	98,682,824 (GRCm38)	missense	probably damaging	1.00
R5585:Psmd3	UTSW	11	98,682,881 (GRCm38)	missense	possibly damaging	0.45
R5687:Psmd3	UTSW	11	98,693,669 (GRCm38)	missense	probably damaging	1.00
R5929:Psmd3	UTSW	11	98,695,596 (GRCm38)	missense	probably damaging	1.00
R6028:Psmd3	UTSW	11	98,685,665 (GRCm38)	missense	probably damaging	0.99
R6240:Psmd3	UTSW	11	98,693,653 (GRCm38)	missense	probably damaging	0.98
R6449:Psmd3	UTSW	11	98,685,640 (GRCm38)	missense	probably benign
R6956:Psmd3	UTSW	11	98,695,551 (GRCm38)	missense	probably damaging	1.00
R7009:Psmd3	UTSW	11	98,682,766 (GRCm38)	missense	probably benign	0.04
R7051:Psmd3	UTSW	11	98,682,833 (GRCm38)	missense	possibly damaging	0.68
R7401:Psmd3	UTSW	11	98,685,640 (GRCm38)	missense	probably benign
R7449:Psmd3	UTSW	11	98,695,551 (GRCm38)	missense	probably damaging	1.00
R7549:Psmd3	UTSW	11	98,690,961 (GRCm38)	missense	probably benign	0.38

Predicted Primers

PCR Primer
(F):5'- TTTGCAGCTGCTCGGTCATC -3'
(R):5'- AGAACAGGTTCGGTCATCGG -3'

Sequencing Primer
(F):5'- CCATGAAGCAGGAGGGCTC -3'
(R):5'- GTCATCGGCTGGGGTCG -3'

Posted On

2015-10-08