Mutagenetix > Incidental Mutation

Incidental Mutation 'R1721:Psmd1'

191431

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

039753-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R1721 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85992341-86067017 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 85999567 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 51 (D51E)

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: D51E

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

SMART Domains

Protein: ENSMUSP00000027432
Gene: ENSMUSG00000026229
AA Change: D51E

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

noncoding transcript
Transcript: ENSMUST00000127104

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133480

Predicted Effect

probably benign
Transcript: ENSMUST00000139715

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143200

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147807

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189234

Meta Mutation Damage Score

0.3310

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

99% (87/88)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acin1	A	T	14: 54,901,995 (GRCm39)	V559E	probably benign	Het
Adamts20	A	G	15: 94,236,340 (GRCm39)	F844L	probably benign	Het
Adcy5	C	A	16: 35,118,794 (GRCm39)	D1048E	probably damaging	Het
Agrn	A	T	4: 156,259,630 (GRCm39)	C768*	probably null	Het
Aldh18a1	G	T	19: 40,553,282 (GRCm39)	Q487K	probably damaging	Het
Aldh3b1	G	A	19: 3,971,271 (GRCm39)		probably benign	Het
Asb18	T	G	1: 89,896,302 (GRCm39)	D246A	probably benign	Het
Atp2b1	T	C	10: 98,832,750 (GRCm39)	V417A	probably damaging	Het
Bcl2l15	A	G	3: 103,745,914 (GRCm39)		probably null	Het
Brd10	A	T	19: 29,720,998 (GRCm39)	S743T	probably damaging	Het
Cage1	T	A	13: 38,207,309 (GRCm39)	K285*	probably null	Het
Ccn2	A	C	10: 24,472,695 (GRCm39)	T202P	probably damaging	Het
Cldn17	A	G	16: 88,303,444 (GRCm39)	L95P	probably damaging	Het
Cldn20	A	T	17: 3,583,157 (GRCm39)	D110V	probably damaging	Het
Cnot10	T	C	9: 114,444,067 (GRCm39)	T443A	probably benign	Het
Col14a1	T	A	15: 55,310,858 (GRCm39)		probably benign	Het
Col23a1	T	C	11: 51,418,716 (GRCm39)	Y135H	unknown	Het
Cse1l	T	C	2: 166,768,331 (GRCm39)	S210P	probably damaging	Het
Cspg4	T	G	9: 56,796,027 (GRCm39)	V1254G	probably damaging	Het
Dip2c	A	G	13: 9,709,404 (GRCm39)	T1415A	probably damaging	Het
Epc2	A	G	2: 49,422,117 (GRCm39)	Y337C	probably damaging	Het
Epha2	A	G	4: 141,049,963 (GRCm39)	S799G	probably damaging	Het
Fndc10	A	G	4: 155,779,355 (GRCm39)	Y133C	probably damaging	Het
Gli3	G	T	13: 15,900,882 (GRCm39)	S1423I	probably benign	Het
Gm6034	A	T	17: 36,354,045 (GRCm39)		probably benign	Het
Gmip	A	G	8: 70,263,882 (GRCm39)	S109G	probably damaging	Het
Grik2	C	A	10: 49,399,842 (GRCm39)	W296L	possibly damaging	Het
Gucy2d	T	A	7: 98,103,268 (GRCm39)	L504H	probably damaging	Het
Il6	T	A	5: 30,218,490 (GRCm39)	Y46N	possibly damaging	Het
Ints8	C	A	4: 11,241,684 (GRCm39)	C253F	probably damaging	Het
Itga9	A	G	9: 118,527,374 (GRCm39)		probably benign	Het
Kcna7	T	C	7: 45,056,345 (GRCm39)	V187A	possibly damaging	Het
Kdm5b	G	T	1: 134,540,919 (GRCm39)		probably benign	Het
Knl1	T	G	2: 118,906,815 (GRCm39)	S1635A	probably damaging	Het
Lce1b	A	G	3: 92,563,318 (GRCm39)	S72P	unknown	Het
Lox	T	G	18: 52,653,983 (GRCm39)		probably null	Het
Mdc1	A	G	17: 36,158,718 (GRCm39)	D366G	possibly damaging	Het
Meiob	T	C	17: 25,053,021 (GRCm39)	C344R	probably damaging	Het
Mier2	A	G	10: 79,384,664 (GRCm39)	V150A	probably damaging	Het
Mon2	A	T	10: 122,867,002 (GRCm39)	M551K	probably damaging	Het
Mrps15	A	G	4: 125,945,187 (GRCm39)	T125A	probably benign	Het
Mtmr14	A	G	6: 113,230,693 (GRCm39)	H99R	probably damaging	Het
Mup4	A	G	4: 59,960,598 (GRCm39)	M1T	probably null	Het
Mup5	G	A	4: 61,750,607 (GRCm39)	R179*	probably null	Het
Ncoa3	T	G	2: 165,911,221 (GRCm39)	V1326G	possibly damaging	Het
Noa1	A	T	5: 77,455,428 (GRCm39)	N429K	probably benign	Het
Nrxn1	C	T	17: 90,469,832 (GRCm39)	A241T	probably damaging	Het
Or1p1	A	T	11: 74,180,126 (GRCm39)	Y218F	probably damaging	Het
Or2t49	C	T	11: 58,392,765 (GRCm39)	V206M	probably damaging	Het
Pcdh9	G	A	14: 94,125,471 (GRCm39)	S233L	probably damaging	Het
Peg3	C	A	7: 6,712,900 (GRCm39)	S774I	possibly damaging	Het
Phyh	A	G	2: 4,942,620 (GRCm39)	K321R	probably null	Het
Plcg1	T	A	2: 160,573,840 (GRCm39)	M35K	probably damaging	Het
Pnisr	C	T	4: 21,874,086 (GRCm39)		probably benign	Het
Ppargc1b	T	A	18: 61,440,275 (GRCm39)		probably null	Het
Prcd	A	C	11: 116,548,371 (GRCm39)	S27R	probably benign	Het
Prx	T	A	7: 27,216,948 (GRCm39)	M622K	probably benign	Het
Psmd13	C	T	7: 140,463,430 (GRCm39)	T38I	probably damaging	Het
Ptprf	A	C	4: 118,082,096 (GRCm39)	D1047E	possibly damaging	Het
Rai14	C	A	15: 10,633,314 (GRCm39)	Q25H	probably damaging	Het
Riiad1	G	A	3: 94,380,176 (GRCm39)	P40S	possibly damaging	Het
Rnft1	T	A	11: 86,377,096 (GRCm39)	N53K	probably benign	Het
Scn4a	C	T	11: 106,211,646 (GRCm39)	R1457H	probably benign	Het
Sema6c	A	T	3: 95,078,099 (GRCm39)	I492F	probably damaging	Het
Shbg	T	C	11: 69,505,798 (GRCm39)	H403R	probably damaging	Het
Slc15a5	A	T	6: 138,049,845 (GRCm39)		probably benign	Het
Slc38a1	G	A	15: 96,485,016 (GRCm39)	T221M	probably damaging	Het
Slc6a16	T	A	7: 44,910,600 (GRCm39)	V375E	possibly damaging	Het
Slc6a17	T	A	3: 107,379,492 (GRCm39)	M559L	probably damaging	Het
Slmap	A	G	14: 26,181,373 (GRCm39)		probably benign	Het
Sorcs2	G	A	5: 36,184,092 (GRCm39)	R965W	probably damaging	Het
St8sia4	C	A	1: 95,581,394 (GRCm39)	R116L	probably damaging	Het
Tcaf1	A	C	6: 42,652,272 (GRCm39)	S737A	possibly damaging	Het
Thbs2	T	A	17: 14,899,072 (GRCm39)	Y676F	probably benign	Het
Tmod2	A	G	9: 75,493,324 (GRCm39)		probably benign	Het
Trim75	T	C	8: 65,435,391 (GRCm39)		probably null	Het
Ubr5	A	T	15: 38,042,090 (GRCm39)	S169T	probably benign	Het
Usp54	A	T	14: 20,633,508 (GRCm39)	Y37*	probably null	Het
Vill	T	C	9: 118,895,082 (GRCm39)	F100S	probably damaging	Het
Vstm5	A	G	9: 15,168,663 (GRCm39)	R76G	probably benign	Het
Zfp608	T	C	18: 55,032,321 (GRCm39)	T540A	probably benign	Het
Zfp947	A	C	17: 22,365,184 (GRCm39)	N163K	probably benign	Het
Zfyve26	T	C	12: 79,308,573 (GRCm39)	H228R	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
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
R8750:Psmd1	UTSW	1	86,016,585 (GRCm39)	missense	probably damaging	0.99
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'- TGCAGTCGTGAATGACTTCTGGGC -3'
(R):5'- TGCGAAGCTAAGCAGCATTCAGC -3'

Sequencing Primer
(F):5'- GGGCAGAGATTTCTGAGTCTGT -3'
(R):5'- CAGAGCCTGTTTAACACTATCAG -3'

Posted On

2014-05-14