Mutagenetix > Incidental Mutation

Incidental Mutation 'R0206:Psmd1'

35431

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

038459-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R0206 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85992341-86067017 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86061463 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 891 (V891A)

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: V891A

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

SMART Domains

Protein: ENSMUSP00000027432
Gene: ENSMUSG00000026229
AA Change: V891A

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

unknown
Transcript: ENSMUST00000135197
AA Change: V35A

Predicted Effect

probably benign
Transcript: ENSMUST00000139715

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149946

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152184

Meta Mutation Damage Score

0.2386

Coding Region Coverage

1x: 98.2%
3x: 97.1%
10x: 94.6%
20x: 89.0%

Validation Efficiency

99% (83/84)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	G	A	17: 48,470,486 (GRCm39)	T165I	probably benign	Het
Aadacl2fm1	C	T	3: 59,840,110 (GRCm39)	R61C	probably damaging	Het
Acsl5	A	G	19: 55,269,001 (GRCm39)	K221E	probably benign	Het
Adam26a	A	C	8: 44,023,455 (GRCm39)	F12V	possibly damaging	Het
Adgrb2	T	C	4: 129,886,352 (GRCm39)	L164P	probably damaging	Het
Aldh1l1	T	C	6: 90,546,848 (GRCm39)	F384L	possibly damaging	Het
Arhgef5	A	G	6: 43,250,275 (GRCm39)	E342G	probably damaging	Het
Btbd8	A	G	5: 107,652,906 (GRCm39)	T304A	probably benign	Het
Cacna1b	A	G	2: 24,497,492 (GRCm39)	S2140P	probably damaging	Het
Camsap2	G	C	1: 136,208,738 (GRCm39)	P918R	probably damaging	Het
Cdca3	C	T	6: 124,809,514 (GRCm39)		probably benign	Het
Cenpj	G	T	14: 56,801,427 (GRCm39)	A182E	probably benign	Het
Cit	A	T	5: 116,132,089 (GRCm39)	N1782Y	possibly damaging	Het
Cmya5	A	G	13: 93,232,065 (GRCm39)	S1008P	probably damaging	Het
Csgalnact2	T	G	6: 118,091,347 (GRCm39)	Q197P	probably benign	Het
D630045J12Rik	A	G	6: 38,116,385 (GRCm39)	M1745T	probably damaging	Het
Ddt	A	G	10: 75,608,719 (GRCm39)	M1T	probably null	Het
Dnah11	A	C	12: 118,007,509 (GRCm39)	N2156K	probably damaging	Het
Dock3	G	T	9: 106,874,195 (GRCm39)	Y425*	probably null	Het
Eng	A	T	2: 32,569,005 (GRCm39)	T511S	probably benign	Het
Gabra6	C	T	11: 42,207,906 (GRCm39)	W188*	probably null	Het
Gnptab	A	T	10: 88,275,372 (GRCm39)	H1111L	probably damaging	Het
H2-M10.4	A	G	17: 36,771,375 (GRCm39)	W268R	probably damaging	Het
Hrct1	C	A	4: 43,727,384 (GRCm39)	T8K	possibly damaging	Het
Il2ra	T	C	2: 11,686,828 (GRCm39)		probably benign	Het
Inhca	A	G	9: 103,159,861 (GRCm39)	C5R	probably damaging	Het
Inpp5k	T	C	11: 75,521,969 (GRCm39)	I15T	probably benign	Het
Ipcef1	A	G	10: 6,870,062 (GRCm39)	S113P	probably damaging	Het
Kctd8	A	T	5: 69,498,508 (GRCm39)	V46E	probably damaging	Het
Klk1b9	T	A	7: 43,628,854 (GRCm39)	N119K	possibly damaging	Het
Krtap9-3	C	A	11: 99,488,663 (GRCm39)	C73F	probably damaging	Het
Loxhd1	T	A	18: 77,492,562 (GRCm39)	F1334L	possibly damaging	Het
Me3	A	T	7: 89,498,868 (GRCm39)	T483S	probably benign	Het
Med1	A	G	11: 98,046,515 (GRCm39)		probably benign	Het
Med13	A	G	11: 86,191,682 (GRCm39)		probably benign	Het
Mvk	C	T	5: 114,597,035 (GRCm39)	T334M	probably damaging	Het
Mxra8	T	A	4: 155,927,053 (GRCm39)	I329N	probably damaging	Het
Mybphl	T	C	3: 108,282,731 (GRCm39)	V207A	probably damaging	Het
Myom1	T	C	17: 71,344,292 (GRCm39)	S266P	probably damaging	Het
Nr2f2	G	C	7: 70,009,923 (GRCm39)	P52R	probably damaging	Het
Or1d2	A	T	11: 74,255,968 (GRCm39)	I158F	probably benign	Het
Or2ag12	A	G	7: 106,276,781 (GRCm39)	V304A	probably benign	Het
Or52b1	A	T	7: 104,979,090 (GRCm39)	M103K	possibly damaging	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Or5m3	T	C	2: 85,838,636 (GRCm39)	I172T	probably damaging	Het
Or6f1	T	C	7: 85,970,854 (GRCm39)	Y102C	probably benign	Het
Pcdhb18	T	C	18: 37,623,240 (GRCm39)	I190T	possibly damaging	Het
Pgbd1	A	C	13: 21,618,651 (GRCm39)	L2R	probably damaging	Het
Pkp4	A	G	2: 59,096,780 (GRCm39)	I61V	probably damaging	Het
Pold4	T	G	19: 4,282,593 (GRCm39)	Y58*	probably null	Het
Pomgnt1	T	C	4: 116,015,757 (GRCm39)		probably null	Het
Prex2	T	A	1: 11,355,368 (GRCm39)	D1556E	probably damaging	Het
Psme3ip1	A	G	8: 95,314,639 (GRCm39)	F73S	probably damaging	Het
Rlig1	T	A	10: 100,422,056 (GRCm39)	K69*	probably null	Het
Rmdn2	T	A	17: 79,957,716 (GRCm39)		probably benign	Het
Ryr2	A	G	13: 11,691,137 (GRCm39)		probably benign	Het
Scgb2b27	C	A	7: 33,711,562 (GRCm39)	E96*	probably null	Het
Sec16b	G	T	1: 157,380,505 (GRCm39)	G359*	probably null	Het
Slc1a3	A	G	15: 8,738,040 (GRCm39)		probably benign	Het
Slc28a1	A	T	7: 80,767,454 (GRCm39)		probably benign	Het
Slc35d1	T	C	4: 103,065,351 (GRCm39)	T177A	probably damaging	Het
Snx33	G	A	9: 56,833,508 (GRCm39)	S187L	probably damaging	Het
Spg11	C	T	2: 121,886,177 (GRCm39)		probably null	Het
Spint1	T	C	2: 119,078,826 (GRCm39)		probably benign	Het
Spta1	A	G	1: 174,020,526 (GRCm39)	H545R	probably damaging	Het
Tinag	A	G	9: 76,907,134 (GRCm39)	I367T	probably damaging	Het
Tln1	C	T	4: 43,549,151 (GRCm39)	V644M	probably damaging	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Ube4b	T	C	4: 149,483,094 (GRCm39)	H58R	probably benign	Het
Ush2a	A	C	1: 188,263,958 (GRCm39)	I1612L	probably damaging	Het
Usp28	A	G	9: 48,939,569 (GRCm39)	Y275C	probably damaging	Het
Vmn2r6	T	C	3: 64,447,333 (GRCm39)	T578A	probably benign	Het
Vps13c	A	G	9: 67,846,444 (GRCm39)		probably benign	Het
Vwf	T	C	6: 125,614,419 (GRCm39)	F1100S	probably damaging	Het
Zfp318	G	T	17: 46,709,945 (GRCm39)	R556L	probably benign	Het
Zkscan1	T	A	5: 138,099,448 (GRCm39)	C391S	probably 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
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
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'- AATGTGGGACAGGAGTGATCCCTC -3'
(R):5'- CACACAGCAATGTCCATTTCTTGCC -3'

Sequencing Primer
(F):5'- GAGTGATCCCTCATTGATTGCATTTC -3'
(R):5'- tgggaggcagaggcagg -3'

Posted On

2013-05-09