Mutagenetix > Incidental Mutation

Incidental Mutation 'R2118:Psmd1'

231157

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

040122-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R2118 (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 86006422 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 263 (S263T)

Ref Sequence

ENSEMBL: ENSMUSP00000027432 (fasta)

Gene Model

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

AlphaFold

Q3TXS7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027432
AA Change: S263T

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000027432
Gene: ENSMUSG00000026229
AA Change: S263T

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

probably benign
Transcript: ENSMUST00000139715

Meta Mutation Damage Score

0.0794

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (90/90)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L24Rik	T	C	11: 83,331,190 (GRCm39)	S31P	possibly damaging	Het
4933430I17Rik	T	A	4: 62,457,109 (GRCm39)	L143M	possibly damaging	Het
Abca13	T	C	11: 9,259,013 (GRCm39)		probably benign	Het
Abcg5	T	A	17: 84,978,575 (GRCm39)	E294D	probably benign	Het
Abi3bp	T	C	16: 56,298,227 (GRCm39)		probably benign	Het
Adamts8	T	C	9: 30,854,359 (GRCm39)	F76S	probably damaging	Het
Agpat3	T	C	10: 78,113,918 (GRCm39)	R257G	probably damaging	Het
Ahctf1	C	A	1: 179,597,017 (GRCm39)	R43L	probably damaging	Het
AI593442	T	C	9: 52,588,993 (GRCm39)	T195A	probably benign	Het
Aipl1	A	T	11: 71,920,195 (GRCm39)	L291Q	possibly damaging	Het
Ambn	T	A	5: 88,608,617 (GRCm39)		probably benign	Het
Arap2	G	A	5: 62,864,028 (GRCm39)	T532I	probably damaging	Het
Arg1	T	C	10: 24,796,621 (GRCm39)	N69D	possibly damaging	Het
Arhgef10	A	G	8: 14,984,820 (GRCm39)	D200G	probably damaging	Het
Arhgef38	T	C	3: 132,866,514 (GRCm39)	K208E	probably benign	Het
Asb4	A	T	6: 5,390,687 (GRCm39)	T27S	probably benign	Het
Ash1l	C	G	3: 88,892,602 (GRCm39)	Q1494E	possibly damaging	Het
Car12	T	C	9: 66,621,174 (GRCm39)	V15A	probably benign	Het
Cdc20b	A	G	13: 113,215,232 (GRCm39)	I267V	probably benign	Het
Cdh1	A	G	8: 107,390,842 (GRCm39)	I653V	probably benign	Het
Cenpe	T	A	3: 134,952,645 (GRCm39)	M1445K	possibly damaging	Het
Cfap43	T	C	19: 47,758,877 (GRCm39)	E932G	probably damaging	Het
Cfhr1	G	C	1: 139,478,642 (GRCm39)	Q243E	probably benign	Het
Cnih2	C	A	19: 5,148,276 (GRCm39)	A6S	possibly damaging	Het
Cntnap1	G	T	11: 101,079,483 (GRCm39)	M1240I	probably benign	Het
Cntrl	T	C	2: 35,051,977 (GRCm39)	S1050P	probably benign	Het
Cyp2a12	A	G	7: 26,736,071 (GRCm39)	*493W	probably null	Het
Dbx2	A	C	15: 95,522,681 (GRCm39)	L342R	probably damaging	Het
Dmd	G	C	X: 83,356,089 (GRCm39)	A2257P	probably benign	Het
Dnajb2	T	C	1: 75,214,121 (GRCm39)	W30R	probably damaging	Het
Ecel1	A	G	1: 87,075,997 (GRCm39)	S727P	probably damaging	Het
Ednrb	T	A	14: 104,059,204 (GRCm39)	D274V	probably benign	Het
Fam78b	G	A	1: 166,906,278 (GRCm39)	V146M	probably damaging	Het
Fancd2	A	G	6: 113,537,035 (GRCm39)		probably benign	Het
Fbxw14	T	C	9: 109,103,692 (GRCm39)		probably benign	Het
Gimap4	G	T	6: 48,667,905 (GRCm39)	C92F	probably benign	Het
Gm10033	A	C	8: 69,824,942 (GRCm39)		noncoding transcript	Het
Gm5828	A	G	1: 16,840,199 (GRCm39)		noncoding transcript	Het
Gnpat	T	C	8: 125,603,680 (GRCm39)	V186A	probably damaging	Het
Gnptab	T	C	10: 88,272,260 (GRCm39)	S967P	probably benign	Het
Ikbkb	T	C	8: 23,157,233 (GRCm39)		probably benign	Het
Il1rap	A	T	16: 26,529,315 (GRCm39)	H379L	probably damaging	Het
Ints12	T	C	3: 132,814,921 (GRCm39)	V376A	probably damaging	Het
Kalrn	C	T	16: 34,152,600 (GRCm39)	S309N	possibly damaging	Het
Kel	T	A	6: 41,666,234 (GRCm39)	I471L	probably benign	Het
Klhl25	T	C	7: 75,516,480 (GRCm39)	V462A	probably damaging	Het
Ksr1	A	T	11: 78,936,019 (GRCm39)	M77K	probably benign	Het
Leo1	T	A	9: 75,353,094 (GRCm39)	N212K	probably damaging	Het
Ltbp1	T	A	17: 75,617,154 (GRCm39)	V1031E	possibly damaging	Het
Ltbr	A	G	6: 125,286,440 (GRCm39)	S249P	probably benign	Het
Mast4	A	G	13: 102,890,713 (GRCm39)	V855A	probably damaging	Het
Mdga2	T	A	12: 66,915,526 (GRCm39)	E43V	probably damaging	Het
Mmaa	A	T	8: 79,994,588 (GRCm39)	L406*	probably null	Het
Mtcl2	T	C	2: 156,875,245 (GRCm39)	E835G	probably damaging	Het
Nlrp12	A	T	7: 3,290,079 (GRCm39)	N144K	probably damaging	Het
Nlrp6	T	C	7: 140,506,357 (GRCm39)	V766A	probably benign	Het
Or4f61	C	A	2: 111,922,675 (GRCm39)	V124L	probably benign	Het
Or5h18	A	G	16: 58,848,178 (GRCm39)	F31L	possibly damaging	Het
Pabpc4l	T	C	3: 46,401,276 (GRCm39)	T123A	probably benign	Het
Pappa2	T	C	1: 158,684,836 (GRCm39)	T768A	probably damaging	Het
Pde6d	A	G	1: 86,473,524 (GRCm39)	F91L	probably benign	Het
Ppp1r13l	A	G	7: 19,105,346 (GRCm39)	M373V	possibly damaging	Het
Prss37	G	A	6: 40,492,294 (GRCm39)	R186*	probably null	Het
Psg16	C	A	7: 16,824,548 (GRCm39)	H111N	probably benign	Het
Psg20	T	A	7: 18,414,947 (GRCm39)	Y316F	probably benign	Het
Rai14	A	G	15: 10,575,252 (GRCm39)	F569L	probably benign	Het
Rbpms2	T	A	9: 65,558,229 (GRCm39)	D116E	probably damaging	Het
Rgs20	A	G	1: 4,987,113 (GRCm39)		probably benign	Het
Rnf114	T	C	2: 167,352,803 (GRCm39)	L101P	probably damaging	Het
Rnf168	T	G	16: 32,097,036 (GRCm39)	L37R	probably damaging	Het
Rpe	T	C	1: 66,754,387 (GRCm39)	M153T	probably damaging	Het
Sap18	T	A	14: 58,036,011 (GRCm39)	S66T	probably damaging	Het
Slc2a13	A	G	15: 91,400,679 (GRCm39)	V181A	probably damaging	Het
Spag17	A	G	3: 99,956,556 (GRCm39)	E884G	possibly damaging	Het
Sycn	T	C	7: 28,240,713 (GRCm39)	S127P	probably damaging	Het
Tas2r106	A	T	6: 131,655,317 (GRCm39)	L178H	probably damaging	Het
Tas2r117	T	A	6: 132,780,129 (GRCm39)	I89K	probably damaging	Het
Tep1	C	A	14: 51,093,029 (GRCm39)		probably null	Het
Tex14	T	C	11: 87,410,569 (GRCm39)		probably benign	Het
Tll1	T	C	8: 64,538,591 (GRCm39)	E351G	probably benign	Het
Tmem44	T	A	16: 30,366,262 (GRCm39)	K55*	probably null	Het
Trak1	T	A	9: 121,302,063 (GRCm39)	*940R	probably null	Het
Vmn1r200	C	T	13: 22,579,353 (GRCm39)	T43I	probably damaging	Het
Wars2	T	C	3: 99,123,883 (GRCm39)	V248A	probably benign	Het
Wfdc6b	C	T	2: 164,459,363 (GRCm39)	R142C	probably benign	Het
Zfp729a	A	T	13: 67,769,613 (GRCm39)		probably null	Het
Zfp759	C	A	13: 67,287,578 (GRCm39)		probably benign	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
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'- TCTGAATAGAATGCTAGGCTAGAG -3'
(R):5'- TGAAGATCCCACTGACTCCC -3'

Sequencing Primer
(F):5'- CCCTTGCAGATGAAGTTTTCAG -3'
(R):5'- TGACTCCCCAGATGAATACAGATGTG -3'

Posted On

2014-09-18