Mutagenetix > Incidental Mutation

Incidental Mutation 'R1942:Psmd6'

216321

Institutional Source

Beutler Lab

Gene Symbol

Psmd6

Ensembl Gene

ENSMUSG00000021737

Gene Name

proteasome (prosome, macropain) 26S subunit, non-ATPase, 6

Synonyms

2400006A19Rik

MMRRC Submission

039960-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R1942 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8348818-8357578 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 14116442 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 91 (V91E)

Ref Sequence

ENSEMBL: ENSMUSP00000153591 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022256] [ENSMUST00000224955]

AlphaFold

Q99JI4

Predicted Effect

probably damaging
Transcript: ENSMUST00000022256
AA Change: V220E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022256
Gene: ENSMUSG00000021737
AA Change: V220E

Domain	Start	End	E-Value	Type
Pfam:RPN7	66	239	5e-65	PFAM
PINT	290	373	9.59e-25	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127228

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147471

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153237

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224076

Predicted Effect

probably damaging
Transcript: ENSMUST00000224955
AA Change: V91E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.8316

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.7%

Validation Efficiency

100% (75/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the protease subunit S10 family. The encoded protein is a subunit of the 26S proteasome which colocalizes with DNA damage foci and is involved in the ATP-dependent degradation of ubiquinated proteins. Alternative splicing results in multiple transcript variants [provided by RefSeq, Nov 2012]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	T	15: 81,949,625 (GRCm39)	Y1174F	probably damaging	Het
Ahnak	A	G	19: 8,992,447 (GRCm39)	E4577G	probably damaging	Het
Anapc4	T	C	5: 53,004,056 (GRCm39)	V291A	probably benign	Het
Apba2	A	G	7: 64,345,218 (GRCm39)	E136G	possibly damaging	Het
Arhgap20	C	A	9: 51,742,998 (GRCm39)	Q279K	probably benign	Het
B3galnt1	A	T	3: 69,483,258 (GRCm39)	M1K	probably null	Het
C4bp	C	A	1: 130,583,804 (GRCm39)		probably benign	Het
Catsperg1	G	A	7: 28,906,232 (GRCm39)	T157I	possibly damaging	Het
Cfap90	A	C	13: 68,761,090 (GRCm39)	I171L	probably benign	Het
Chrm1	T	A	19: 8,655,637 (GRCm39)	M114K	probably damaging	Het
Clasp1	A	G	1: 118,429,078 (GRCm39)	E329G	possibly damaging	Het
Clrn2	A	C	5: 45,611,337 (GRCm39)	Y62S	probably benign	Het
Col12a1	T	G	9: 79,542,748 (GRCm39)	D2339A	probably damaging	Het
Copa	T	A	1: 171,939,455 (GRCm39)	L564Q	probably damaging	Het
Cpeb2	C	A	5: 43,392,596 (GRCm39)		probably benign	Het
Dhx57	A	T	17: 80,572,573 (GRCm39)	M647K	probably damaging	Het
Diaph3	C	T	14: 87,378,556 (GRCm39)		probably benign	Het
Eomes	A	G	9: 118,313,716 (GRCm39)	D587G	probably benign	Het
Gm5142	T	A	14: 59,416,156 (GRCm39)	M1L	probably benign	Het
Gnl2	A	G	4: 124,923,957 (GRCm39)	I12V	probably benign	Het
Gprin1	C	T	13: 54,887,752 (GRCm39)	C174Y	probably benign	Het
Grin2b	A	T	6: 135,709,730 (GRCm39)	V1272E	possibly damaging	Het
Hdac9	A	G	12: 34,479,544 (GRCm39)	L227S	probably damaging	Het
Helz	T	A	11: 107,493,318 (GRCm39)	L247Q	probably benign	Het
Hs6st1	T	C	1: 36,107,803 (GRCm39)	V22A	probably benign	Het
Hspg2	C	A	4: 137,269,863 (GRCm39)	A2304E	possibly damaging	Het
Htr3a	T	C	9: 48,819,911 (GRCm39)	Y73C	probably damaging	Het
Il1rap	A	C	16: 26,541,205 (GRCm39)	E482A	probably damaging	Het
Itsn2	T	A	12: 4,689,670 (GRCm39)	L581*	probably null	Het
Msmb	A	G	14: 31,870,034 (GRCm39)	E2G	probably benign	Het
Muc19	T	C	15: 91,776,666 (GRCm39)		noncoding transcript	Het
Muc4	A	C	16: 32,569,460 (GRCm39)	L173F	probably damaging	Het
Muc5b	A	T	7: 141,411,421 (GRCm39)	S1456C	unknown	Het
Mylip	A	T	13: 45,560,172 (GRCm39)	I203F	probably damaging	Het
Nckap5	A	T	1: 125,952,039 (GRCm39)	D1504E	probably damaging	Het
Neil1	C	G	9: 57,053,891 (GRCm39)	R143P	probably benign	Het
Nlrp2	T	A	7: 5,325,447 (GRCm39)	T742S	probably damaging	Het
Nme8	A	G	13: 19,859,978 (GRCm39)	V214A	probably damaging	Het
Nsun7	C	T	5: 66,441,588 (GRCm39)	T419I	probably benign	Het
Nup210l	G	A	3: 90,058,544 (GRCm39)	E648K	probably benign	Het
Or10g6	T	A	9: 39,934,031 (GRCm39)	L114H	probably damaging	Het
Or10g6	T	C	9: 39,934,048 (GRCm39)	Y120H	probably damaging	Het
Or2y1c	T	C	11: 49,360,981 (GRCm39)	M1T	probably null	Het
Or8s2	A	G	15: 98,276,445 (GRCm39)	L182P	probably damaging	Het
Parp11	A	C	6: 127,447,663 (GRCm39)		probably null	Het
Pomgnt1	G	T	4: 116,012,472 (GRCm39)		probably null	Het
Ppp1r14c	T	C	10: 3,413,417 (GRCm39)	I150T	probably damaging	Het
Psd4	A	G	2: 24,295,805 (GRCm39)	E908G	probably damaging	Het
Ptk2b	A	T	14: 66,406,830 (GRCm39)	V634D	probably damaging	Het
Rapgef6	A	G	11: 54,548,089 (GRCm39)	I753V	possibly damaging	Het
Rbm45	G	A	2: 76,205,823 (GRCm39)		probably null	Het
Ric1	A	G	19: 29,578,416 (GRCm39)		probably benign	Het
Sh3rf2	A	G	18: 42,282,689 (GRCm39)	K416E	probably damaging	Het
Six5	C	T	7: 18,830,858 (GRCm39)	A495V	possibly damaging	Het
Slc27a6	T	A	18: 58,689,870 (GRCm39)	M112K	probably damaging	Het
Slc5a4a	T	C	10: 75,983,422 (GRCm39)	S20P	unknown	Het
Smg1	A	G	7: 117,757,326 (GRCm39)		probably benign	Het
Sntb2	G	A	8: 107,737,984 (GRCm39)	A511T	probably damaging	Het
Stk31	A	T	6: 49,416,061 (GRCm39)	N622I	probably damaging	Het
Sulf1	T	C	1: 12,918,397 (GRCm39)	F38S	probably damaging	Het
Szt2	G	T	4: 118,249,817 (GRCm39)	T521K	probably benign	Het
Terf1	G	T	1: 15,876,038 (GRCm39)	R46I	probably benign	Het
Tmem245	A	G	4: 56,923,511 (GRCm39)		probably benign	Het
Tmigd1	T	C	11: 76,804,905 (GRCm39)		probably null	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Umod	A	G	7: 119,076,155 (GRCm39)	Y204H	probably damaging	Het
Vcan	T	A	13: 89,851,543 (GRCm39)	Q1139L	probably benign	Het
Vmn1r85	T	A	7: 12,818,668 (GRCm39)	T159S	possibly damaging	Het
Vmn2r103	T	A	17: 20,032,562 (GRCm39)	S779T	probably benign	Het
Vmn2r27	C	T	6: 124,200,722 (GRCm39)	A412T	probably damaging	Het
Zc3h12d	A	C	10: 7,729,077 (GRCm39)	D147A	probably damaging	Het
Zfp800	A	T	6: 28,243,272 (GRCm39)	D564E	probably benign	Het
Zfp932	A	G	5: 110,154,853 (GRCm39)	E17G	probably damaging	Het

Other mutations in Psmd6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01512:Psmd6	APN	14	14,114,237 (GRCm38)	missense	probably damaging	1.00
IGL01937:Psmd6	APN	14	14,116,169 (GRCm38)	missense	probably benign	0.00
IGL03240:Psmd6	APN	14	14,112,393 (GRCm38)	unclassified	probably benign
IGL03284:Psmd6	APN	14	14,112,546 (GRCm38)	missense	probably benign	0.00
R1479:Psmd6	UTSW	14	14,116,819 (GRCm38)	intron	probably benign
R1627:Psmd6	UTSW	14	14,112,539 (GRCm38)	missense	probably damaging	1.00
R4151:Psmd6	UTSW	14	14,120,157 (GRCm38)	missense	probably benign	0.02
R4279:Psmd6	UTSW	14	14,112,297 (GRCm38)	missense	possibly damaging	0.81
R4776:Psmd6	UTSW	14	14,120,932 (GRCm38)	unclassified	probably benign
R4799:Psmd6	UTSW	14	14,120,126 (GRCm38)	missense	probably benign
R4956:Psmd6	UTSW	14	14,116,166 (GRCm38)	missense	probably benign	0.16
R5599:Psmd6	UTSW	14	14,120,144 (GRCm38)	missense	probably benign	0.01
R5828:Psmd6	UTSW	14	14,119,990 (GRCm38)	missense	probably benign	0.16
R5884:Psmd6	UTSW	14	14,116,526 (GRCm38)	missense	probably damaging	1.00
R6362:Psmd6	UTSW	14	14,116,949 (GRCm38)	missense	probably benign	0.07
R7208:Psmd6	UTSW	14	14,112,225 (GRCm38)	splice site	probably null
R7590:Psmd6	UTSW	14	14,119,882 (GRCm38)	frame shift	probably null
R7677:Psmd6	UTSW	14	14,120,837 (GRCm38)	missense	probably benign	0.19
R7773:Psmd6	UTSW	14	14,119,882 (GRCm38)	frame shift	probably null
R8228:Psmd6	UTSW	14	14,116,843 (GRCm38)	missense	possibly damaging	0.48
R8236:Psmd6	UTSW	14	14,119,882 (GRCm38)	frame shift	probably null
R8506:Psmd6	UTSW	14	14,114,181 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGAAGACTGTGCAACACTTC -3'
(R):5'- TTTGCTAGCCTGATAGAGGAAG -3'

Sequencing Primer
(F):5'- GTGCAACACTTCAAGGATCTCTG -3'
(R):5'- CCTGATAGAGGAAGGCGGAGAC -3'

Posted On

2014-08-01