Mutagenetix > Incidental Mutation

Incidental Mutation 'R7590:Psmd6'

587377

Institutional Source

Beutler Lab

Gene Symbol

Psmd6

Ensembl Gene

ENSMUSG00000021737

Gene Name

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

Synonyms

2400006A19Rik

MMRRC Submission

045669-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R7590 (G1)

Quality Score

109.458

Status

Validated

Chromosome

Chromosomal Location

8348818-8357578 bp(+) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC to GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC at 14119882 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000022256 (fasta)

Gene Model

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

AlphaFold

Q99JI4

Predicted Effect

probably null
Transcript: ENSMUST00000022256

SMART Domains

Protein: ENSMUSP00000022256
Gene: ENSMUSG00000021737

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

Predicted Effect

probably null
Transcript: ENSMUST00000224955

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (48/49)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,829,341 (GRCm39)	T1373S	probably damaging	Het
Bbox1	A	T	2: 110,098,577 (GRCm39)	N333K	probably benign	Het
Bcl11b	T	A	12: 107,969,402 (GRCm39)	M1L	probably benign	Het
C1s2	T	A	6: 124,609,087 (GRCm39)	I157F	probably damaging	Het
Casp1	T	A	9: 5,306,710 (GRCm39)	M384K	probably damaging	Het
Chpt1	A	G	10: 88,316,688 (GRCm39)	S257P	probably damaging	Het
Dennd4a	G	A	9: 64,795,869 (GRCm39)	G731D	probably benign	Het
Dlk2	A	T	17: 46,609,609 (GRCm39)	S21C	probably benign	Het
Ell2	T	C	13: 75,918,854 (GRCm39)	L620P	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Fip1l1	T	C	5: 74,752,435 (GRCm39)	V414A	probably benign	Het
Fmo1	T	A	1: 162,687,251 (GRCm39)		probably benign	Het
Fyb2	A	G	4: 104,802,443 (GRCm39)	N115S	probably benign	Het
Gdi2	A	G	13: 3,614,611 (GRCm39)	T319A	probably benign	Het
Hecw1	A	G	13: 14,438,668 (GRCm39)	V905A	probably damaging	Het
Ireb2	T	A	9: 54,803,779 (GRCm39)	V490D	probably benign	Het
Itprid2	G	T	2: 79,488,454 (GRCm39)	V846F	possibly damaging	Het
Lbr	A	G	1: 181,649,076 (GRCm39)	S348P	probably damaging	Het
Loxhd1	T	A	18: 77,409,330 (GRCm39)	D191E	possibly damaging	Het
Mlip	A	T	9: 77,137,325 (GRCm39)	D527E	probably benign	Het
Myom2	A	G	8: 15,167,679 (GRCm39)	Y1088C	probably damaging	Het
Naip5	T	C	13: 100,356,204 (GRCm39)	Q1137R	probably benign	Het
Naip5	G	T	13: 100,356,205 (GRCm39)	Q1137K	not run	Het
Nckap5	G	T	1: 125,954,270 (GRCm39)	Q761K	probably benign	Het
Neb	A	T	2: 52,133,854 (GRCm39)	D3376E	probably damaging	Het
Nek10	A	G	14: 15,006,693 (GRCm38)	*1116W	probably null	Het
Or2t43	T	C	11: 58,458,085 (GRCm39)	I29V	probably benign	Het
Or52d3	T	C	7: 104,229,149 (GRCm39)	S99P	probably damaging	Het
Or5p1	A	T	7: 107,916,386 (GRCm39)	H95L	probably benign	Het
Pak2	A	T	16: 31,871,014 (GRCm39)	I56K	probably benign	Het
Pgm5	T	C	19: 24,686,629 (GRCm39)	Y526C	probably damaging	Het
Phc2	T	A	4: 128,641,820 (GRCm39)	L714H	probably damaging	Het
Phf13	A	T	4: 152,076,232 (GRCm39)	D223E	probably damaging	Het
Pkd1l2	T	C	8: 117,807,525 (GRCm39)	D171G	probably benign	Het
Rbm6	A	T	9: 107,668,949 (GRCm39)		probably null	Het
Scn10a	A	G	9: 119,495,466 (GRCm39)	M352T	probably damaging	Het
Sh3d19	G	A	3: 86,022,213 (GRCm39)	V548I	possibly damaging	Het
Slc13a4	T	A	6: 35,256,398 (GRCm39)	I321F	possibly damaging	Het
Spata9	T	C	13: 76,125,771 (GRCm39)	S85P	possibly damaging	Het
Speer4a2	G	T	5: 26,290,764 (GRCm39)	H136N	possibly damaging	Het
Ssb	G	A	2: 69,697,634 (GRCm39)	A122T	probably benign	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Ten1	T	C	11: 116,096,466 (GRCm39)	L40P	possibly damaging	Het
Tex10	A	C	4: 48,467,725 (GRCm39)	V358G	probably damaging	Het
Tmprss11c	A	T	5: 86,387,332 (GRCm39)	H195Q	probably benign	Het
Tor4a	A	G	2: 25,085,810 (GRCm39)	V31A	possibly damaging	Het
Trim29	G	A	9: 43,222,788 (GRCm39)	A206T	probably damaging	Het
Trim71	A	C	9: 114,391,893 (GRCm39)	V98G	probably benign	Het
Trpm6	C	G	19: 18,809,945 (GRCm39)	L1114V	probably benign	Het
Usp1	A	G	4: 98,822,489 (GRCm39)	D601G	possibly damaging	Het
Vmn2r18	T	A	5: 151,485,194 (GRCm39)	I767F	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
R1942:Psmd6	UTSW	14	14,116,442 (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
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'- GGTGCTGCAACATTGTCATG -3'
(R):5'- ATGGACGTGGATCTCCTGAG -3'

Sequencing Primer
(F):5'- GCTGCAACATTGTCATGTATCTACTG -3'
(R):5'- ACGTGGATCTCCTGAGTAAAATG -3'

Posted On

2019-10-24