Mutagenetix > Incidental Mutation

Incidental Mutation 'R1760:Clpb'

192697

Institutional Source

Beutler Lab

Gene Symbol

Clpb

Ensembl Gene

ENSMUSG00000001829

Gene Name

ClpB caseinolytic peptidase B

Synonyms

Skd3

MMRRC Submission

039792-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.910) question?

Stock #

R1760 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101312958-101444667 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 101435905 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 578 (V578E)

Ref Sequence

ENSEMBL: ENSMUSP00000148062 (fasta)

Gene Model

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

AlphaFold

Q60649

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001884
AA Change: V578E

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000001884
Gene: ENSMUSG00000001829
AA Change: V578E

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

possibly damaging
Transcript: ENSMUST00000106998
AA Change: V608E

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102611
Gene: ENSMUSG00000001829
AA Change: V608E

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

noncoding transcript
Transcript: ENSMUST00000150355

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150832

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209579
AA Change: V578E

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210465

Meta Mutation Damage Score

0.8095

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.6%

Validation Efficiency

97% (95/98)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	T	C	2: 25,333,055 (GRCm39)	S1585P	probably benign	Het
Abhd16b	T	C	2: 181,135,197 (GRCm39)	F33S	probably damaging	Het
Adgra2	G	A	8: 27,609,795 (GRCm39)	R856Q	probably damaging	Het
Aff3	A	T	1: 38,368,945 (GRCm39)		probably benign	Het
Anxa2	A	T	9: 69,397,049 (GRCm39)	Y251F	probably benign	Het
Arid1b	A	G	17: 5,392,088 (GRCm39)	T1873A	probably damaging	Het
Baz1b	C	A	5: 135,271,378 (GRCm39)	D1320E	probably benign	Het
Bbs1	A	T	19: 4,944,350 (GRCm39)	S426R	probably benign	Het
Bid	A	G	6: 120,877,209 (GRCm39)	V44A	possibly damaging	Het
Ccdc60	T	A	5: 116,310,532 (GRCm39)	M177L	probably damaging	Het
Cdh23	G	A	10: 60,161,855 (GRCm39)	T1997M	probably damaging	Het
Cdh5	T	A	8: 104,854,801 (GRCm39)	M243K	probably benign	Het
Cngb1	C	A	8: 96,026,328 (GRCm39)	C151F	probably benign	Het
Cntnap5b	T	C	1: 99,700,535 (GRCm39)	S16P	probably benign	Het
Cr1l	T	A	1: 194,797,123 (GRCm39)	M305L	probably benign	Het
Ctnnal1	A	T	4: 56,838,988 (GRCm39)	M235K	probably damaging	Het
Ddx55	A	T	5: 124,706,176 (GRCm39)	R534W	probably damaging	Het
Dip2b	T	A	15: 100,109,910 (GRCm39)	L1465Q	probably damaging	Het
Dnah9	G	T	11: 65,872,048 (GRCm39)	D2727E	probably benign	Het
Dph3b-ps	A	C	13: 106,683,497 (GRCm39)		noncoding transcript	Het
Dst	T	A	1: 34,267,684 (GRCm39)	L2702Q	probably damaging	Het
Efnb2	T	C	8: 8,673,184 (GRCm39)	T158A	possibly damaging	Het
Exosc10	A	T	4: 148,662,926 (GRCm39)	K712*	probably null	Het
Fgr	T	C	4: 132,725,653 (GRCm39)	V354A	possibly damaging	Het
Fsip2	A	G	2: 82,830,185 (GRCm39)	D6893G	possibly damaging	Het
Fsip2	G	A	2: 82,815,240 (GRCm39)	V3658M	probably benign	Het
Fsip2	A	T	2: 82,818,055 (GRCm39)	H4596L	possibly damaging	Het
Gm1527	G	A	3: 28,949,699 (GRCm39)		probably benign	Het
Gm5150	G	T	3: 16,060,468 (GRCm39)	Q7K	probably benign	Het
Gpr155	C	T	2: 73,212,279 (GRCm39)	V115M	probably damaging	Het
Gpr75	T	C	11: 30,841,527 (GRCm39)	L144P	probably damaging	Het
Gsn	T	A	2: 35,174,835 (GRCm39)	Y127N	probably damaging	Het
Hk1	A	G	10: 62,117,678 (GRCm39)	L615S	probably damaging	Het
Igsf9b	A	G	9: 27,229,123 (GRCm39)	T194A	possibly damaging	Het
Il17rd	C	T	14: 26,813,763 (GRCm39)	Q46*	probably null	Het
Jak1	T	A	4: 101,020,126 (GRCm39)	M678L	probably benign	Het
Kif6	T	C	17: 49,922,311 (GRCm39)	V16A	probably benign	Het
Kpna3	T	C	14: 61,607,990 (GRCm39)	E405G	probably benign	Het
Lmtk2	C	A	5: 144,110,993 (GRCm39)	T571K	probably damaging	Het
Mucl2	T	C	15: 103,927,838 (GRCm39)	T40A	possibly damaging	Het
Myh11	G	A	16: 14,051,559 (GRCm39)		probably benign	Het
Myh7	C	T	14: 55,210,170 (GRCm39)	R1845Q	probably damaging	Het
Myo1f	T	A	17: 33,805,172 (GRCm39)	L480Q	probably benign	Het
Nek9	T	G	12: 85,352,364 (GRCm39)	D833A	possibly damaging	Het
Nek9	T	C	12: 85,357,184 (GRCm39)	E660G	probably benign	Het
Or10z1	C	T	1: 174,077,926 (GRCm39)	C189Y	probably damaging	Het
Or2a12	A	G	6: 42,904,431 (GRCm39)	I89V	possibly damaging	Het
Or2t45	A	G	11: 58,669,195 (GRCm39)	M81V	possibly damaging	Het
Or5h18	T	C	16: 58,847,350 (GRCm39)	R307G	probably benign	Het
Or6c65	T	A	10: 129,603,417 (GRCm39)	D17E	probably benign	Het
Or6f2	G	A	7: 139,756,188 (GRCm39)	V52M	probably damaging	Het
Or7s1a-ps1	T	A	9: 18,843,791 (GRCm39)		probably benign	Het
Otud3	G	T	4: 138,623,092 (GRCm39)	T383K	possibly damaging	Het
Pkp4	T	C	2: 59,142,185 (GRCm39)	L496P	probably damaging	Het
Pla2g4e	C	A	2: 120,000,527 (GRCm39)	A737S	possibly damaging	Het
Pla2g4f	T	C	2: 120,144,547 (GRCm39)		probably benign	Het
Plxnd1	A	T	6: 115,944,740 (GRCm39)	V1018E	possibly damaging	Het
Ppp1r21	T	G	17: 88,869,653 (GRCm39)	V402G	possibly damaging	Het
Prkcq	T	G	2: 11,304,881 (GRCm39)	M690R	probably damaging	Het
Ptpra	T	C	2: 130,391,747 (GRCm39)	I719T	probably damaging	Het
Rab3ip	C	T	10: 116,773,415 (GRCm39)	D133N	probably damaging	Het
Relch	T	G	1: 105,647,169 (GRCm39)		probably benign	Het
Rsbn1	T	A	3: 103,867,347 (GRCm39)	Y563N	probably damaging	Het
Rtf1	A	C	2: 119,558,889 (GRCm39)	D530A	probably benign	Het
Rybp	G	T	6: 100,209,224 (GRCm39)	S199R	probably benign	Het
Sema5a	T	G	15: 32,641,252 (GRCm39)	C689G	probably damaging	Het
Senp6	T	A	9: 80,025,911 (GRCm39)	V314E	probably benign	Het
Setd1a	T	A	7: 127,385,062 (GRCm39)	C47S	possibly damaging	Het
Slamf1	C	A	1: 171,604,734 (GRCm39)	T168K	probably benign	Het
Slc12a5	T	C	2: 164,838,048 (GRCm39)	S937P	probably damaging	Het
Slc38a11	C	T	2: 65,185,663 (GRCm39)		probably null	Het
Slc6a2	C	T	8: 93,687,846 (GRCm39)		probably benign	Het
Snw1	A	T	12: 87,511,459 (GRCm39)	F64Y	probably benign	Het
Spata9	A	C	13: 76,146,643 (GRCm39)	I172L	probably benign	Het
Sphkap	T	C	1: 83,255,265 (GRCm39)	H828R	probably benign	Het
Spmip6	T	A	4: 41,507,330 (GRCm39)		probably null	Het
Tmem94	A	T	11: 115,687,580 (GRCm39)	K1146N	probably damaging	Het
Trdn	A	G	10: 33,109,883 (GRCm39)	T294A	possibly damaging	Het
Tsc22d1	T	C	14: 76,654,388 (GRCm39)	V289A	possibly damaging	Het
Tti1	C	A	2: 157,834,955 (GRCm39)	V1002L	possibly damaging	Het
Tubgcp4	T	A	2: 121,019,952 (GRCm39)		probably null	Het
Ush2a	G	A	1: 188,643,180 (GRCm39)	E4181K	possibly damaging	Het
Uvrag	A	G	7: 98,537,555 (GRCm39)	S547P	probably benign	Het
Vav3	T	C	3: 109,248,443 (GRCm39)	V30A	possibly damaging	Het
Vegfa	A	G	17: 46,336,395 (GRCm39)	Y242H	probably damaging	Het
Vmn2r75	G	T	7: 85,798,019 (GRCm39)	T598K	probably damaging	Het
Vps13b	C	T	15: 35,884,765 (GRCm39)	S3146L	possibly damaging	Het
Vrk3	A	G	7: 44,417,895 (GRCm39)	Y310C	probably damaging	Het
Zfhx4	A	G	3: 5,447,676 (GRCm39)	K1100R	probably benign	Het
Zfp748	T	A	13: 67,693,540 (GRCm39)		probably null	Het
Zfp760	A	T	17: 21,941,311 (GRCm39)	D162V	probably damaging	Het
Znfx1	T	A	2: 166,881,786 (GRCm39)	M1068L	probably 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
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
R9631:Clpb	UTSW	7	101,434,605 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- TCAAAGAACGACCCCAAGGTGATG -3'
(R):5'- GCTCTCAGCCCAGGTTCTTCAAATG -3'

Sequencing Primer
(F):5'- CCCAAGGTGATGTGGGTC -3'
(R):5'- CTTGTTTCAGGCTTCTGTGC -3'

Posted On

2014-05-23