Mutagenetix > Incidental Mutation

Incidental Mutation 'R8750:Psmd1'

663742

Institutional Source

Beutler Lab

Gene Symbol

Psmd1

Ensembl Gene

ENSMUSG00000026229

Gene Name

proteasome (prosome, macropain) 26S subunit, non-ATPase, 1

Synonyms

P112, S1

MMRRC Submission

068593-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R8750 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85992341-86067017 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 86016585 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 490 (R490S)

Ref Sequence

ENSEMBL: ENSMUSP00000027432 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027432] [ENSMUST00000139715]

AlphaFold

Q3TXS7

Predicted Effect

probably damaging
Transcript: ENSMUST00000027432
AA Change: R490S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000027432
Gene: ENSMUSG00000026229
AA Change: R490S

Domain	Start	End	E-Value	Type
Pfam:PC_rep	441	474	5.1e-9	PFAM
Pfam:PC_rep	476	510	8.4e-8	PFAM
Pfam:PC_rep	511	545	1.1e-7	PFAM
Pfam:HEAT_2	599	693	3.3e-15	PFAM
Pfam:PC_rep	651	685	1.1e-11	PFAM
low complexity region	818	828	N/A	INTRINSIC
low complexity region	837	872	N/A	INTRINSIC
low complexity region	936	949	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000139715

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

MGI Phenotype

FUNCTION: In eukaryotic cells, most proteins in the cytosol and nucleus are degraded via the ubiquitin-proteasome pathway. The 26S proteasome is a self-compartmentalizing protease comprised of approximately 31 different subunits. It contains a barrel-shaped proteolytic core complex (the 20S proteasome), capped at one or both ends by 19S regulatory complexes, which recognize ubiquitinated proteins. Protein degradation by proteasomes is the source of most antigenic peptides presented on MHC class I molecules. This gene encodes a non-ATPase subunit of the 26S proteasome. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	G	A	12: 81,607,247 (GRCm39)	Q172*	probably null	Het
Ankib1	A	G	5: 3,752,890 (GRCm39)		probably null	Het
Avpr1b	C	T	1: 131,527,674 (GRCm39)	R66C	probably damaging	Het
Bbs7	A	T	3: 36,661,744 (GRCm39)	C152S	possibly damaging	Het
Cacna1a	C	A	8: 85,285,784 (GRCm39)	R810S	probably damaging	Het
Ccdc17	G	A	4: 116,457,129 (GRCm39)	A538T	possibly damaging	Het
Cd93	T	C	2: 148,285,080 (GRCm39)	M89V	probably benign	Het
Clec11a	G	T	7: 43,955,323 (GRCm39)	D157E	probably benign	Het
Crtam	A	C	9: 40,895,641 (GRCm39)	D228E	probably benign	Het
Cyp2a4	A	G	7: 26,012,209 (GRCm39)	I331V	probably benign	Het
Cysltr2	T	C	14: 73,267,078 (GRCm39)	I211V	probably benign	Het
Dcaf13	T	C	15: 38,982,836 (GRCm39)	S123P	probably damaging	Het
Dctn1	T	G	6: 83,160,108 (GRCm39)	V116G	possibly damaging	Het
Dmrt3	G	A	19: 25,588,550 (GRCm39)	A130T	probably benign	Het
Dnah1	A	T	14: 31,026,924 (GRCm39)	L700Q	probably benign	Het
Dnajc1	T	C	2: 18,313,645 (GRCm39)	T159A	probably damaging	Het
Dpyd	C	T	3: 118,935,585 (GRCm39)	S670L	probably damaging	Het
Dsg2	A	T	18: 20,708,069 (GRCm39)	I57F	possibly damaging	Het
Dzip3	A	C	16: 48,801,338 (GRCm39)	I62S	probably damaging	Het
Ern1	A	T	11: 106,312,776 (GRCm39)	S202T	probably damaging	Het
Foxm1	T	A	6: 128,350,206 (GRCm39)	C517*	probably null	Het
Galnt16	G	A	12: 80,644,879 (GRCm39)	V501I	probably benign	Het
Gmip	A	T	8: 70,273,134 (GRCm39)	R840S	probably benign	Het
Gna14	A	C	19: 16,585,458 (GRCm39)	I279L		Het
Irak2	T	C	6: 113,663,783 (GRCm39)	M444T	probably benign	Het
Itfg2	T	C	6: 128,389,755 (GRCm39)		probably null	Het
Kif5a	T	A	10: 127,083,909 (GRCm39)	H94L	probably damaging	Het
Kmt2e	A	G	5: 23,698,215 (GRCm39)	T636A	probably benign	Het
Krba1	T	C	6: 48,382,212 (GRCm39)	S152P	probably damaging	Het
Mad1l1	T	A	5: 140,300,822 (GRCm39)	M25L	probably benign	Het
Map7d1	T	C	4: 126,132,315 (GRCm39)	N286D	probably benign	Het
Mfrp	A	G	9: 44,014,802 (GRCm39)	K280E	probably benign	Het
Mlh3	G	T	12: 85,308,488 (GRCm39)	L1100I	probably damaging	Het
Mrgprx2	T	C	7: 48,131,778 (GRCm39)	I347V	probably benign	Het
Mtnr1b	A	T	9: 15,785,724 (GRCm39)	C11*	probably null	Het
Mx1	T	C	16: 97,252,917 (GRCm39)	E401G	probably damaging	Het
Mypn	T	C	10: 63,003,036 (GRCm39)	D367G	probably benign	Het
Nherf2	T	C	17: 24,861,233 (GRCm39)	I176V	probably damaging	Het
Or52a33	T	A	7: 103,289,059 (GRCm39)	D96V	probably damaging	Het
Or6c5b	T	C	10: 129,245,649 (GRCm39)	V138A	probably benign	Het
Or8s8	T	G	15: 98,354,929 (GRCm39)	I246R	probably damaging	Het
Or9g19	T	A	2: 85,600,307 (GRCm39)	L54H	probably damaging	Het
Plcb1	T	G	2: 135,177,369 (GRCm39)	M567R	probably damaging	Het
Plekhd1	A	T	12: 80,752,861 (GRCm39)	D109V	probably damaging	Het
Polr2e	A	G	10: 79,875,424 (GRCm39)	I17T	probably benign	Het
Pot1b	T	C	17: 55,973,537 (GRCm39)	D421G	probably benign	Het
Prkar1b	A	T	5: 139,036,451 (GRCm39)	W224R	probably damaging	Het
Pwp2	A	G	10: 78,013,659 (GRCm39)	W521R	probably damaging	Het
Rhpn2	C	A	7: 35,075,680 (GRCm39)	Q286K	probably benign	Het
Rnf103	T	A	6: 71,486,602 (GRCm39)	M411K	probably benign	Het
Scpep1	A	C	11: 88,835,298 (GRCm39)	V125G	probably damaging	Het
Serpinb9c	C	T	13: 33,335,793 (GRCm39)	V248M	probably null	Het
Snx15	T	A	19: 6,170,593 (GRCm39)	N282I	probably benign	Het
Spaca3	A	T	11: 80,758,514 (GRCm39)	D159V	probably benign	Het
Srrm4	A	G	5: 116,605,567 (GRCm39)	V230A	unknown	Het
Ssu2	T	A	6: 112,359,312 (GRCm39)	I103F	possibly damaging	Het
Strip2	T	A	6: 29,931,815 (GRCm39)	F453I	probably damaging	Het
Tac2	C	T	10: 127,564,319 (GRCm39)	P72L	possibly damaging	Het
Tiparp	T	G	3: 65,460,125 (GRCm39)	S473R	probably damaging	Het
Tmem135	C	T	7: 88,956,456 (GRCm39)	R53Q	probably damaging	Het
Tmem200b	T	A	4: 131,649,406 (GRCm39)	F109I	probably damaging	Het
Tmem245	A	T	4: 56,886,141 (GRCm39)	I825N	probably damaging	Het
Tmem63c	G	T	12: 87,103,306 (GRCm39)	V27F	probably damaging	Het
Tshz1	T	C	18: 84,033,162 (GRCm39)	I415M	probably damaging	Het
Tut4	C	G	4: 108,407,940 (GRCm39)	A1403G	probably damaging	Het
Wfdc2	T	A	2: 164,407,818 (GRCm39)	N162K	probably damaging	Het
Zeb2	T	A	2: 44,887,939 (GRCm39)	I373F	probably damaging	Het
Zfp27	T	C	7: 29,594,804 (GRCm39)	N387S	possibly damaging	Het
Zfp760	A	T	17: 21,941,356 (GRCm39)	H177L	possibly damaging	Het
Zg16	A	G	7: 126,649,518 (GRCm39)	S148P	possibly damaging	Het
Zic2	A	G	14: 122,714,129 (GRCm39)	N348D	probably benign	Het
Zswim4	A	T	8: 84,939,313 (GRCm39)	D856E	possibly damaging	Het

Other mutations in Psmd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00772:Psmd1	APN	1	86,017,920 (GRCm39)	splice site	probably benign
IGL02410:Psmd1	APN	1	86,005,159 (GRCm39)	missense	probably damaging	0.97
IGL02455:Psmd1	APN	1	86,006,302 (GRCm39)	missense	probably damaging	0.97
IGL03015:Psmd1	APN	1	86,055,914 (GRCm39)	missense	probably damaging	0.97
IGL03100:Psmd1	APN	1	86,046,243 (GRCm39)	missense	possibly damaging	0.68
Neutralized	UTSW	1	86,012,914 (GRCm39)	missense	probably damaging	0.98
Rickety	UTSW	1	85,998,350 (GRCm39)	critical splice donor site	probably null
PIT4480001:Psmd1	UTSW	1	86,055,960 (GRCm39)	missense	probably damaging	0.99
R0027:Psmd1	UTSW	1	86,021,987 (GRCm39)	splice site	probably benign
R0115:Psmd1	UTSW	1	86,010,993 (GRCm39)	missense	possibly damaging	0.89
R0201:Psmd1	UTSW	1	86,046,338 (GRCm39)	missense	probably benign	0.11
R0206:Psmd1	UTSW	1	86,061,463 (GRCm39)	missense	possibly damaging	0.94
R0208:Psmd1	UTSW	1	86,061,463 (GRCm39)	missense	possibly damaging	0.94
R0255:Psmd1	UTSW	1	86,006,304 (GRCm39)	missense	probably damaging	1.00
R0486:Psmd1	UTSW	1	86,022,012 (GRCm39)	missense	probably damaging	0.99
R0675:Psmd1	UTSW	1	86,009,761 (GRCm39)	missense	probably benign	0.03
R0790:Psmd1	UTSW	1	86,005,172 (GRCm39)	missense	possibly damaging	0.94
R1565:Psmd1	UTSW	1	86,019,719 (GRCm39)	splice site	probably benign
R1721:Psmd1	UTSW	1	85,999,567 (GRCm39)	missense	probably damaging	0.99
R2010:Psmd1	UTSW	1	86,003,719 (GRCm39)	missense	probably damaging	0.96
R2098:Psmd1	UTSW	1	86,009,823 (GRCm39)	splice site	probably null
R2118:Psmd1	UTSW	1	86,006,422 (GRCm39)	missense	possibly damaging	0.94
R2119:Psmd1	UTSW	1	86,006,422 (GRCm39)	missense	possibly damaging	0.94
R2120:Psmd1	UTSW	1	86,006,422 (GRCm39)	missense	possibly damaging	0.94
R2122:Psmd1	UTSW	1	86,006,422 (GRCm39)	missense	possibly damaging	0.94
R2504:Psmd1	UTSW	1	86,017,719 (GRCm39)	missense	possibly damaging	0.91
R3810:Psmd1	UTSW	1	86,060,437 (GRCm39)	missense	probably damaging	0.99
R3811:Psmd1	UTSW	1	86,060,437 (GRCm39)	missense	probably damaging	0.99
R3978:Psmd1	UTSW	1	86,055,909 (GRCm39)	missense	probably benign	0.05
R4131:Psmd1	UTSW	1	86,006,422 (GRCm39)	missense	probably damaging	0.98
R4360:Psmd1	UTSW	1	86,061,459 (GRCm39)	missense	probably damaging	0.97
R4386:Psmd1	UTSW	1	86,055,914 (GRCm39)	missense	possibly damaging	0.93
R4402:Psmd1	UTSW	1	86,003,673 (GRCm39)	missense	possibly damaging	0.59
R4591:Psmd1	UTSW	1	86,055,926 (GRCm39)	missense	probably benign	0.05
R4783:Psmd1	UTSW	1	86,006,434 (GRCm39)	missense	probably damaging	0.97
R4824:Psmd1	UTSW	1	86,064,820 (GRCm39)	missense	probably benign	0.08
R4937:Psmd1	UTSW	1	86,010,947 (GRCm39)	missense	probably damaging	0.98
R5443:Psmd1	UTSW	1	86,017,905 (GRCm39)	missense	probably damaging	0.99
R5486:Psmd1	UTSW	1	86,064,772 (GRCm39)	missense	possibly damaging	0.59
R5979:Psmd1	UTSW	1	86,017,775 (GRCm39)	missense	possibly damaging	0.92
R6033:Psmd1	UTSW	1	86,064,817 (GRCm39)	missense	probably damaging	1.00
R6425:Psmd1	UTSW	1	85,998,350 (GRCm39)	critical splice donor site	probably null
R7467:Psmd1	UTSW	1	86,044,355 (GRCm39)	missense	probably damaging	0.99
R8257:Psmd1	UTSW	1	86,006,345 (GRCm39)	missense	probably damaging	0.99
R8390:Psmd1	UTSW	1	86,006,329 (GRCm39)	missense	possibly damaging	0.59
R8890:Psmd1	UTSW	1	86,012,914 (GRCm39)	missense	probably damaging	0.98
R9017:Psmd1	UTSW	1	86,054,231 (GRCm39)	missense	probably damaging	0.99
R9142:Psmd1	UTSW	1	86,064,817 (GRCm39)	missense	probably damaging	1.00
R9330:Psmd1	UTSW	1	86,061,490 (GRCm39)	missense	probably damaging	1.00
R9799:Psmd1	UTSW	1	86,054,236 (GRCm39)	missense	possibly damaging	0.77
Z1177:Psmd1	UTSW	1	86,010,890 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TGATTATCTGGGACACCCTCTGC -3'
(R):5'- GCTTTTCTATCATGTAATGCCAACTGC -3'

Sequencing Primer
(F):5'- ACAGTTCAGGATCGCCCTTAG -3'
(R):5'- CTGCAAGAGTAGGTAAGAATTTTCTC -3'

Posted On

2021-03-08