Mutagenetix > Incidental Mutation

Incidental Mutation 'R9631:Clpb'

725501

Institutional Source

Beutler Lab

Gene Symbol

Clpb

Ensembl Gene

ENSMUSG00000001829

Gene Name

ClpB caseinolytic peptidase B

Synonyms

Skd3

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.910) question?

Stock #

R9631 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

101312958-101444667 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 101434605 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 467 (V467G)

Ref Sequence

ENSEMBL: ENSMUSP00000001884 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001884] [ENSMUST00000106998] [ENSMUST00000209579]

AlphaFold

Q60649

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001884
AA Change: V467G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000001884
Gene: ENSMUSG00000001829
AA Change: V467G

Domain	Start	End	E-Value	Type
ANK	133	162	2.03e-1	SMART
ANK	166	195	1.96e-3	SMART
ANK	235	264	6.65e-6	SMART
low complexity region	294	306	N/A	INTRINSIC
AAA	343	497	6.36e-10	SMART
ClpB_D2-small	541	630	6.83e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000106998
AA Change: V497G

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102611
Gene: ENSMUSG00000001829
AA Change: V497G

Domain	Start	End	E-Value	Type
ANK	133	162	2.03e-1	SMART
ANK	166	195	1.96e-3	SMART
ANK	265	294	6.65e-6	SMART
low complexity region	324	336	N/A	INTRINSIC
AAA	373	527	6.36e-10	SMART
ClpB_D2-small	571	660	6.83e-4	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209579
AA Change: V467G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the ATP-ases associated with diverse cellular activities (AAA+) superfamily. Members of this superfamily form ring-shaped homo-hexamers and have highly conserved ATPase domains that are involved in various processes including DNA replication, protein degradation and reactivation of misfolded proteins. All members of this family hydrolyze ATP through their AAA+ domains and use the energy generated through ATP hydrolysis to exert mechanical force on their substrates. In addition to an AAA+ domain, the protein encoded by this gene contains a C-terminal D2 domain, which is characteristic of the AAA+ subfamily of Caseinolytic peptidases to which this protein belongs. It cooperates with Hsp70 in the disaggregation of protein aggregates. Allelic variants of this gene are associated with 3-methylglutaconic aciduria, which causes cataracts and neutropenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atl3	A	G	19: 7,509,553 (GRCm39)	N427S	probably benign	Het
Bcar3	T	A	3: 122,301,801 (GRCm39)	D165E	possibly damaging	Het
Brap	T	C	5: 121,822,435 (GRCm39)	I437T	probably benign	Het
Bspry	T	C	4: 62,400,955 (GRCm39)		probably null	Het
Camkv	G	T	9: 107,822,990 (GRCm39)	V77L	probably benign	Het
Capn15	A	T	17: 26,182,409 (GRCm39)	D566E	probably damaging	Het
Ccar2	A	G	14: 70,389,344 (GRCm39)	V76A	probably damaging	Het
Ccdc142	T	C	6: 83,084,142 (GRCm39)	C516R	probably benign	Het
Ccdc92b	T	A	11: 74,520,845 (GRCm39)	V49E		Het
Ccr7	A	G	11: 99,036,616 (GRCm39)	V102A	probably benign	Het
Cdh23	A	T	10: 60,243,168 (GRCm39)	V1069E	possibly damaging	Het
Cimip2c	A	G	5: 30,639,529 (GRCm39)	D152G		Het
Crebzf	T	A	7: 90,093,013 (GRCm39)	L264Q	probably damaging	Het
Ctif	A	G	18: 75,605,025 (GRCm39)	F505L	probably benign	Het
Cyp2j5	A	G	4: 96,529,522 (GRCm39)	I283T	probably benign	Het
Ddx39a	C	A	8: 84,447,729 (GRCm39)	H191Q	possibly damaging	Het
Dnajc9	A	T	14: 20,438,670 (GRCm39)		probably null	Het
Dock7	A	G	4: 98,854,560 (GRCm39)	L1568P	unknown	Het
Dpp10	T	C	1: 123,269,432 (GRCm39)	Y659C	probably damaging	Het
Eef1akmt3	A	G	10: 126,877,161 (GRCm39)	F35L	probably benign	Het
Etl4	A	T	2: 20,666,749 (GRCm39)	N52I	probably benign	Het
F5	T	A	1: 164,014,423 (GRCm39)	C565S	probably damaging	Het
Fam170b	T	C	14: 32,557,641 (GRCm39)	S159P	probably damaging	Het
Fitm2	A	G	2: 163,311,757 (GRCm39)	I152T	probably damaging	Het
Fn1	T	C	1: 71,625,387 (GRCm39)	D2473G	probably benign	Het
Fzd2	C	A	11: 102,496,916 (GRCm39)	D453E	probably benign	Het
Grm5	T	C	7: 87,624,560 (GRCm39)	Y376H	probably damaging	Het
H2-Q6	T	A	17: 35,644,292 (GRCm39)	H91Q	probably benign	Het
Hspa4	A	T	11: 53,160,582 (GRCm39)	V498E	possibly damaging	Het
Igsf10	A	T	3: 59,237,904 (GRCm39)	L759H	probably damaging	Het
Jph1	T	C	1: 17,161,607 (GRCm39)	T352A	probably damaging	Het
Kit	C	T	5: 75,767,689 (GRCm39)	T24M	possibly damaging	Het
Krtap28-13	T	G	1: 83,038,897 (GRCm39)	C61G	unknown	Het
Lgr5	T	A	10: 115,302,513 (GRCm39)	I293F	probably damaging	Het
Lyzl4	GGACACACTGCAGAGGGAGTGGAGAGAAAGGGACCCACCAGTGCAAGACACACTGCAGAGGGAGTGGAGAGAAAGGGACCCACCAGTGCAGGACACACTGCAGAGG	GGACACACTGCAGAGGGAGTGGAGAGAAAGGGACCCACCAGTGCAGGACACACTGCAGAGG	9: 121,413,055 (GRCm39)		probably null	Het
Mccc1	C	A	3: 36,014,185 (GRCm39)	E711*	probably null	Het
Mroh2b	C	T	15: 4,946,556 (GRCm39)	T452I	probably damaging	Het
Ms4a10	G	A	19: 10,944,451 (GRCm39)	T111I	probably damaging	Het
Myh11	A	T	16: 14,025,441 (GRCm39)	V1443E		Het
Oc90	A	G	15: 65,769,629 (GRCm39)	L76P	probably damaging	Het
Or10d3	G	A	9: 39,461,508 (GRCm39)	R220*	probably null	Het
Or4c118	T	C	2: 88,975,522 (GRCm39)		probably benign	Het
Or4f57	A	G	2: 111,791,377 (GRCm39)	F14L	probably benign	Het
Or56a42-ps1	A	T	7: 104,775,607 (GRCm39)	I290N	probably damaging	Het
Or5b97	A	G	19: 12,878,502 (GRCm39)	V214A	possibly damaging	Het
Or8b57	A	G	9: 40,004,223 (GRCm39)	V13A	probably damaging	Het
Or8c10	G	A	9: 38,279,714 (GRCm39)	V281M	possibly damaging	Het
Or8g52	A	T	9: 39,631,161 (GRCm39)	T213S	possibly damaging	Het
Pgr	C	A	9: 8,900,847 (GRCm39)	Q127K	probably benign	Het
Qrich2	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	11: 116,348,367 (GRCm39)		probably benign	Het
Rfc1	C	T	5: 65,429,851 (GRCm39)	V852M	probably damaging	Het
Rin2	T	A	2: 145,718,437 (GRCm39)	L639H	probably damaging	Het
Rpap2	T	A	5: 107,768,292 (GRCm39)	W377R	probably damaging	Het
Senp7	T	C	16: 55,975,631 (GRCm39)	S446P	probably benign	Het
Sipa1l1	A	G	12: 82,387,776 (GRCm39)	M1V	probably null	Het
Slc25a36	A	C	9: 96,982,153 (GRCm39)	S61A	probably benign	Het
Sptbn2	C	T	19: 4,788,218 (GRCm39)	R1066W	probably damaging	Het
Tgm6	A	G	2: 129,977,810 (GRCm39)	S50G	probably benign	Het
Thada	T	C	17: 84,538,584 (GRCm39)	S1475G	probably benign	Het
Tln1	G	A	4: 43,545,694 (GRCm39)	A928V	probably damaging	Het
Trip11	G	A	12: 101,859,807 (GRCm39)	L357F	probably benign	Het
Ttc3	G	T	16: 94,171,581 (GRCm39)		probably benign	Het
Ttc38	T	C	15: 85,728,659 (GRCm39)	S204P	possibly damaging	Het
Vmn1r237	A	T	17: 21,534,660 (GRCm39)	I128F	probably benign	Het
Vmn2r50	A	T	7: 9,786,990 (GRCm39)	L39*	probably null	Het
Vps4b	A	G	1: 106,707,835 (GRCm39)	V216A	possibly damaging	Het
Zfp217	T	C	2: 169,956,790 (GRCm39)	N736S	possibly damaging	Het
Zfp985	A	G	4: 147,665,742 (GRCm39)	E25G	probably damaging	Het
Zfr	C	T	15: 12,154,628 (GRCm39)	R604*	probably null	Het
Zscan18	A	G	7: 12,505,657 (GRCm39)	S577P	possibly damaging	Het

Other mutations in Clpb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00418:Clpb	APN	7	101,436,952 (GRCm39)	missense	probably benign
IGL00778:Clpb	APN	7	101,427,815 (GRCm39)	nonsense	probably null
IGL00780:Clpb	APN	7	101,427,815 (GRCm39)	nonsense	probably null
IGL00951:Clpb	APN	7	101,400,467 (GRCm39)	missense	probably benign	0.00
IGL01374:Clpb	APN	7	101,422,335 (GRCm39)	missense	probably damaging	1.00
IGL01542:Clpb	APN	7	101,436,712 (GRCm39)	missense	probably damaging	0.98
IGL02203:Clpb	APN	7	101,428,544 (GRCm39)	missense	probably damaging	1.00
IGL02989:Clpb	APN	7	101,428,427 (GRCm39)	missense	probably damaging	1.00
IGL03088:Clpb	APN	7	101,434,656 (GRCm39)	nonsense	probably null
Surfeit	UTSW	7	101,360,672 (GRCm39)	missense	probably damaging	1.00
PIT1430001:Clpb	UTSW	7	101,435,926 (GRCm39)	missense	possibly damaging	0.95
PIT4486001:Clpb	UTSW	7	101,313,139 (GRCm39)	missense	probably benign	0.17
R0611:Clpb	UTSW	7	101,436,956 (GRCm39)	missense	possibly damaging	0.71
R1565:Clpb	UTSW	7	101,434,668 (GRCm39)	missense	probably benign	0.00
R1760:Clpb	UTSW	7	101,435,905 (GRCm39)	missense	possibly damaging	0.92
R1879:Clpb	UTSW	7	101,355,690 (GRCm39)	missense	probably benign	0.23
R1933:Clpb	UTSW	7	101,428,418 (GRCm39)	missense	probably damaging	0.96
R1938:Clpb	UTSW	7	101,412,863 (GRCm39)	missense	probably damaging	1.00
R2922:Clpb	UTSW	7	101,372,035 (GRCm39)	missense	probably benign	0.02
R2923:Clpb	UTSW	7	101,372,035 (GRCm39)	missense	probably benign	0.02
R2995:Clpb	UTSW	7	101,428,531 (GRCm39)	missense	probably damaging	1.00
R4492:Clpb	UTSW	7	101,436,929 (GRCm39)	missense	probably damaging	1.00
R5384:Clpb	UTSW	7	101,428,548 (GRCm39)	missense	probably damaging	1.00
R5973:Clpb	UTSW	7	101,313,204 (GRCm39)	missense	probably benign	0.02
R6787:Clpb	UTSW	7	101,312,866 (GRCm39)	unclassified	probably benign
R7158:Clpb	UTSW	7	101,313,039 (GRCm39)	missense	probably benign	0.45
R7225:Clpb	UTSW	7	101,360,672 (GRCm39)	missense	probably damaging	1.00
R7239:Clpb	UTSW	7	101,360,662 (GRCm39)	missense	probably damaging	0.96
R7482:Clpb	UTSW	7	101,435,926 (GRCm39)	missense	possibly damaging	0.95
R7499:Clpb	UTSW	7	101,371,935 (GRCm39)	missense	possibly damaging	0.92
R7547:Clpb	UTSW	7	101,313,503 (GRCm39)	splice site	probably null
R7769:Clpb	UTSW	7	101,371,924 (GRCm39)	missense	probably damaging	0.96
R8279:Clpb	UTSW	7	101,355,695 (GRCm39)	missense	possibly damaging	0.79
R9376:Clpb	UTSW	7	101,360,625 (GRCm39)	missense	probably benign	0.01
R9501:Clpb	UTSW	7	101,427,780 (GRCm39)	missense	probably damaging	1.00
R9623:Clpb	UTSW	7	101,313,399 (GRCm39)	missense	possibly damaging	0.72

Predicted Primers

PCR Primer
(F):5'- AGCTTAGAGTGAGGGGCATC -3'
(R):5'- TGAGGGAGGAACATAATCTCTTGTC -3'

Sequencing Primer
(F):5'- CTTAGAGTGAGGGGCATCAGCATAG -3'
(R):5'- GATGCCTGTTTCTGCTCTAAGAAGC -3'

Posted On

2022-09-12