Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01396:Psmc6'

79454

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Psmc6

Ensembl Gene

ENSMUSG00000021832

Gene Name

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

Synonyms

2300001E01Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01396

Quality Score

Status

Chromosome

Chromosomal Location

45567285-45587150 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 45581124 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 307 (Q307K)

Ref Sequence

ENSEMBL: ENSMUSP00000022380 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022380]

AlphaFold

P62334

Predicted Effect

probably benign
Transcript: ENSMUST00000022380
AA Change: Q307K

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000022380
Gene: ENSMUSG00000021832
AA Change: Q307K

Domain	Start	End	E-Value	Type
low complexity region	25	39	N/A	INTRINSIC
AAA	166	305	8.77e-22	SMART
Blast:AAA	333	381	3e-17	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226739

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227148

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227385

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228026

Predicted Effect

probably benign
Transcript: ENSMUST00000228479

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228831

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. Pseudogenes have been identified on chromosomes 8 and 12. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	T	A	5: 88,120,649 (GRCm39)	Y469N	probably benign	Het
Actl11	T	C	9: 107,805,964 (GRCm39)	S96P	possibly damaging	Het
Ankrd13b	T	A	11: 77,363,198 (GRCm39)		probably null	Het
Apobec4	T	A	1: 152,632,017 (GRCm39)	I15K	probably damaging	Het
Arhgef28	G	T	13: 98,090,401 (GRCm39)	D1039E	probably damaging	Het
Atp1a1	C	T	3: 101,498,769 (GRCm39)	G175R	probably damaging	Het
AU040320	T	A	4: 126,763,171 (GRCm39)		probably benign	Het
Bcl9l	G	A	9: 44,418,121 (GRCm39)	R653H	probably damaging	Het
Ccdc141	T	A	2: 76,958,669 (GRCm39)	I144L	possibly damaging	Het
Cdh20	C	T	1: 104,875,154 (GRCm39)	T312I	possibly damaging	Het
Cdh23	C	T	10: 60,220,848 (GRCm39)	V1297I	possibly damaging	Het
Cfap57	T	C	4: 118,467,792 (GRCm39)	Y315C	probably damaging	Het
Chd8	A	G	14: 52,442,044 (GRCm39)		probably benign	Het
Cog5	A	G	12: 31,944,095 (GRCm39)	D660G	probably benign	Het
Cps1	T	C	1: 67,196,945 (GRCm39)	I332T	probably damaging	Het
Csgalnact2	T	C	6: 118,103,288 (GRCm39)	T225A	probably damaging	Het
Dchs1	A	G	7: 105,421,490 (GRCm39)	L310P	probably damaging	Het
Dgki	T	C	6: 36,977,025 (GRCm39)	N695S	probably damaging	Het
Gas7	T	A	11: 67,543,740 (GRCm39)		probably null	Het
Gm21286	T	C	4: 60,794,323 (GRCm39)		noncoding transcript	Het
Gm4799	C	T	10: 82,790,518 (GRCm39)		noncoding transcript	Het
Hdac4	T	C	1: 91,887,196 (GRCm39)		probably benign	Het
Hif1a	T	A	12: 73,987,307 (GRCm39)	S467T	probably benign	Het
Ier5	A	G	1: 154,974,296 (GRCm39)	V294A	probably damaging	Het
Ifna11	T	C	4: 88,738,314 (GRCm39)	V40A	probably benign	Het
Itga9	T	C	9: 118,436,191 (GRCm39)		probably benign	Het
Lbx1	G	T	19: 45,222,670 (GRCm39)	Q118K	probably benign	Het
Lta	A	T	17: 35,423,061 (GRCm39)		probably null	Het
Matr3	A	G	18: 35,721,442 (GRCm39)	Y471C	probably damaging	Het
Nrg2	A	T	18: 36,178,905 (GRCm39)		probably benign	Het
Or4c103	C	T	2: 88,513,575 (GRCm39)	C167Y	probably damaging	Het
Or4k51	T	C	2: 111,584,848 (GRCm39)	F85L	probably benign	Het
Or4k51	T	A	2: 111,584,948 (GRCm39)	M118K	probably damaging	Het
Or5l13	G	T	2: 87,780,207 (GRCm39)	F123L	probably damaging	Het
Patl1	A	G	19: 11,901,247 (GRCm39)	K299R	probably damaging	Het
Pdgfrb	A	G	18: 61,205,736 (GRCm39)	E574G	probably damaging	Het
Phf3	G	A	1: 30,843,386 (GRCm39)	Q1858*	probably null	Het
Prkca	T	C	11: 107,905,148 (GRCm39)	K197E	possibly damaging	Het
Rasa1	T	C	13: 85,406,561 (GRCm39)	I181V	probably benign	Het
Scel	A	G	14: 103,845,530 (GRCm39)		probably benign	Het
Scn5a	A	T	9: 119,363,770 (GRCm39)	S457T	probably damaging	Het
Sesn3	A	G	9: 14,232,374 (GRCm39)	T216A	probably benign	Het
Slc25a21	A	G	12: 57,205,974 (GRCm39)	V19A	probably benign	Het
Slc34a1	A	G	13: 55,550,546 (GRCm39)	T81A	probably damaging	Het
Slc35a5	A	G	16: 44,971,866 (GRCm39)	Y117H	probably damaging	Het
Sptbn4	A	G	7: 27,114,196 (GRCm39)	V569A	probably benign	Het
Sqle	A	G	15: 59,195,723 (GRCm39)	Y333C	probably damaging	Het
Svep1	T	C	4: 58,068,552 (GRCm39)	E3078G	possibly damaging	Het
Tacc2	T	A	7: 130,360,919 (GRCm39)	I2737N	probably damaging	Het
Tet3	A	T	6: 83,346,620 (GRCm39)	Y1272*	probably null	Het
Tnr	G	T	1: 159,724,594 (GRCm39)	R1095L	possibly damaging	Het
Vmn1r184	T	C	7: 25,966,862 (GRCm39)	S203P	probably damaging	Het
Vmn2r94	A	G	17: 18,477,301 (GRCm39)	L370P	probably damaging	Het
Xrcc5	A	G	1: 72,393,404 (GRCm39)	H559R	probably benign	Het

Other mutations in Psmc6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01139:Psmc6	APN	14	45,581,167 (GRCm39)	missense	probably benign	0.27
R2072:Psmc6	UTSW	14	45,567,323 (GRCm39)	missense	possibly damaging	0.94
R5948:Psmc6	UTSW	14	45,572,114 (GRCm39)	missense	probably benign	0.37
R6120:Psmc6	UTSW	14	45,586,130 (GRCm39)	missense	possibly damaging	0.80
R6168:Psmc6	UTSW	14	45,581,140 (GRCm39)	missense	probably damaging	1.00
R6931:Psmc6	UTSW	14	45,581,182 (GRCm39)	missense	possibly damaging	0.86
R7548:Psmc6	UTSW	14	45,572,375 (GRCm39)	missense	probably benign	0.00
R7772:Psmc6	UTSW	14	45,581,107 (GRCm39)	missense	probably damaging	1.00
R8059:Psmc6	UTSW	14	45,578,260 (GRCm39)	missense	probably damaging	0.99
R8856:Psmc6	UTSW	14	45,578,320 (GRCm39)	missense	probably damaging	0.99
R9040:Psmc6	UTSW	14	45,581,111 (GRCm39)	missense	probably benign
R9448:Psmc6	UTSW	14	45,568,483 (GRCm39)	missense	probably benign	0.05

Posted On

2013-11-05