Mutagenetix > Incidental Mutation

Incidental Mutation 'R8228:Psmd6'

637071

Institutional Source

Beutler Lab

Gene Symbol

Psmd6

Ensembl Gene

ENSMUSG00000021737

Gene Name

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

Synonyms

2400006A19Rik

MMRRC Submission

067661-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R8228 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

8348818-8357578 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 14116843 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 160 (N160S)

Ref Sequence

ENSEMBL: ENSMUSP00000022256 (fasta)

Gene Model

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

AlphaFold

Q99JI4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022256
AA Change: N160S

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000022256
Gene: ENSMUSG00000021737
AA Change: N160S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	T	C	6: 72,324,500 (GRCm39)		probably null	Het
1700008O03Rik	A	G	7: 44,009,729 (GRCm39)	Y158H	probably benign	Het
4930438A08Rik	T	A	11: 58,182,381 (GRCm39)	I252N		Het
A930011G23Rik	G	A	5: 99,524,980 (GRCm39)	P60S	probably damaging	Het
Abcf1	A	G	17: 36,271,933 (GRCm39)		probably null	Het
AI987944	T	C	7: 41,026,260 (GRCm39)	T14A	probably damaging	Het
Alox12b	T	C	11: 69,054,755 (GRCm39)	Y253H	probably damaging	Het
Anapc1	T	A	2: 128,461,837 (GRCm39)	K1756*	probably null	Het
Arid5b	T	A	10: 68,114,536 (GRCm39)	E2V	possibly damaging	Het
Atp13a1	G	A	8: 70,251,569 (GRCm39)	V545M	probably damaging	Het
Atp2b4	TTCTTC	TTCTTCCTCTTC	1: 133,629,459 (GRCm39)		probably benign	Het
Cert1	A	G	13: 96,679,723 (GRCm39)	T18A	probably benign	Het
Cfap119	G	A	7: 127,184,179 (GRCm39)	T239M	probably benign	Het
Col1a1	T	G	11: 94,836,426 (GRCm39)		probably null	Het
Csdc2	C	T	15: 81,833,411 (GRCm39)	T136I	possibly damaging	Het
Dpp9	A	T	17: 56,498,129 (GRCm39)	I609N	probably damaging	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG,TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Gjb6	T	C	14: 57,361,926 (GRCm39)	R112G	probably benign	Het
Gm19410	A	G	8: 36,252,992 (GRCm39)	K646E	possibly damaging	Het
Grik5	T	C	7: 24,709,933 (GRCm39)	E934G	probably damaging	Het
Grik5	A	T	7: 24,745,735 (GRCm39)	F446Y	possibly damaging	Het
Iffo2	C	G	4: 139,302,483 (GRCm39)	N75K	probably damaging	Het
Kif15	A	G	9: 122,821,041 (GRCm39)	N649D	possibly damaging	Het
Lrit2	G	A	14: 36,791,148 (GRCm39)	A276T	probably damaging	Het
Mcm8	T	C	2: 132,684,714 (GRCm39)		probably null	Het
Mmut	A	G	17: 41,248,219 (GRCm39)	E82G	possibly damaging	Het
Or4n4	A	G	14: 50,518,997 (GRCm39)	S238P	probably damaging	Het
Or5w8	T	A	2: 87,688,284 (GRCm39)	M255K	probably benign	Het
Pcdhga8	A	G	18: 37,861,236 (GRCm39)	Q764R	probably benign	Het
Pcgf2	T	C	11: 97,582,865 (GRCm39)	Y138C	probably benign	Het
Phf20l1	G	T	15: 66,511,789 (GRCm39)	V922F	possibly damaging	Het
Pkd1l2	A	T	8: 117,792,514 (GRCm39)	I426N	probably damaging	Het
Robo1	A	G	16: 72,809,768 (GRCm39)	D1172G	probably benign	Het
Sdr9c7	T	C	10: 127,734,544 (GRCm39)	Y11H	possibly damaging	Het
Sec24c	G	T	14: 20,739,975 (GRCm39)	A635S	probably benign	Het
Tex2	T	C	11: 106,457,997 (GRCm39)	I478V	probably benign	Het
Traip	T	C	9: 107,838,265 (GRCm39)	M166T	probably benign	Het
Trdn	T	C	10: 33,033,014 (GRCm39)	S80P	probably damaging	Het
Trim46	G	T	3: 89,142,255 (GRCm39)	T744N	probably benign	Het
Tsc1	C	A	2: 28,566,141 (GRCm39)	A520D	probably benign	Het
Usp36	T	C	11: 118,155,716 (GRCm39)	E852G	possibly damaging	Het
Vmn2r101	C	T	17: 19,811,284 (GRCm39)	T456I	probably benign	Het
Zc3h7a	A	G	16: 10,956,954 (GRCm39)	F885S	probably damaging	Het
Zfp335	G	A	2: 164,746,818 (GRCm39)	R354W	probably damaging	Het
Zfp456	C	A	13: 67,514,533 (GRCm39)	C391F	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
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
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'- AGCCCTGGTACACTTTCAGC -3'
(R):5'- GGCATCTTACTTCTGTGCCG -3'

Sequencing Primer
(F):5'- GGTACACTTTCAGCCTGTTTCG -3'
(R):5'- ACTTCTGTGCCGCCAGC -3'

Posted On

2020-07-13