Mutagenetix > Incidental Mutation

Incidental Mutation 'R1933:Clpb'

215566

Institutional Source

Beutler Lab

Gene Symbol

Clpb

Ensembl Gene

ENSMUSG00000001829

Gene Name

ClpB caseinolytic peptidase B

Synonyms

Skd3

MMRRC Submission

039951-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.910) question?

Stock #

R1933 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101312958-101444667 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 101428418 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 393 (F393V)

Ref Sequence

ENSEMBL: ENSMUSP00000148062 (fasta)

Gene Model

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

AlphaFold

Q60649

Predicted Effect

probably damaging
Transcript: ENSMUST00000001884
AA Change: F393V

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000001884
Gene: ENSMUSG00000001829
AA Change: F393V

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: F423V

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000102611
Gene: ENSMUSG00000001829
AA Change: F423V

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

probably damaging
Transcript: ENSMUST00000209579
AA Change: F393V

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.7%
20x: 93.4%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	A	T	8: 41,207,922 (GRCm39)	Y396F	probably benign	Het
Adra2a	T	A	19: 54,034,837 (GRCm39)	F64L	probably damaging	Het
Ankrd45	A	T	1: 160,978,870 (GRCm39)	N103I	probably damaging	Het
Arhgef7	C	A	8: 11,858,713 (GRCm39)		probably null	Het
Bsn	A	G	9: 107,993,643 (GRCm39)	V703A	possibly damaging	Het
Btaf1	T	A	19: 36,950,357 (GRCm39)	I529K	probably damaging	Het
Ccdc110	A	G	8: 46,396,287 (GRCm39)	N726S	probably damaging	Het
Ccdc78	T	A	17: 26,006,044 (GRCm39)	S71T	probably damaging	Het
Cct5	G	T	15: 31,591,154 (GRCm39)	Q516K	probably benign	Het
Cd300c2	A	T	11: 114,891,685 (GRCm39)	V63E	probably benign	Het
Cdh16	A	G	8: 105,344,595 (GRCm39)	V7A	possibly damaging	Het
Clec16a	T	C	16: 10,506,403 (GRCm39)	F710L	probably damaging	Het
Commd9	G	A	2: 101,731,376 (GRCm39)	R187H	probably damaging	Het
Crx	T	A	7: 15,602,301 (GRCm39)	K126*	probably null	Het
Dcaf13	T	A	15: 39,001,483 (GRCm39)	Y264N	probably damaging	Het
Dnah12	T	A	14: 26,455,650 (GRCm39)	I791N	probably damaging	Het
Dpy19l1	A	T	9: 24,345,683 (GRCm39)	D456E	probably damaging	Het
Dscam	A	G	16: 96,394,414 (GRCm39)	S1963P	probably benign	Het
Efl1	C	T	7: 82,412,325 (GRCm39)	Q905*	probably null	Het
Farsa	T	C	8: 85,587,780 (GRCm39)	F104L	probably benign	Het
Fbxl19	C	A	7: 127,350,101 (GRCm39)	A231E	probably benign	Het
Fbxw19	A	T	9: 109,310,718 (GRCm39)	N401K	probably benign	Het
Foxp1	TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	6: 99,052,926 (GRCm39)		probably benign	Het
Frem3	A	G	8: 81,339,519 (GRCm39)	N604S	probably benign	Het
Gad1	T	G	2: 70,417,736 (GRCm39)	C312G	possibly damaging	Het
Garem2	G	T	5: 30,319,860 (GRCm39)	E441*	probably null	Het
Glra3	G	T	8: 56,393,942 (GRCm39)	A18S	probably benign	Het
Gm8206	A	T	14: 6,022,475 (GRCm38)	M8K	probably benign	Het
Gpr162	G	A	6: 124,838,410 (GRCm39)	S80F	probably damaging	Het
Grpr	C	A	X: 162,332,137 (GRCm39)	V53L	probably benign	Het
Il21	C	T	3: 37,286,635 (GRCm39)	R27H	probably benign	Het
Il21r	C	T	7: 125,228,153 (GRCm39)	T208I	possibly damaging	Het
Kcnab2	T	C	4: 152,520,323 (GRCm39)	T6A	possibly damaging	Het
Klra4	T	A	6: 130,042,207 (GRCm39)	Q20L	possibly damaging	Het
Lrrtm1	A	T	6: 77,221,949 (GRCm39)		probably null	Het
Lrrtm3	A	G	10: 63,924,292 (GRCm39)	F292L	possibly damaging	Het
Mpeg1	A	T	19: 12,440,011 (GRCm39)	K490*	probably null	Het
Myh14	C	T	7: 44,264,772 (GRCm39)	M1671I	probably benign	Het
Nebl	A	T	2: 17,380,103 (GRCm39)	M757K	probably damaging	Het
Or51m1	G	T	7: 103,578,337 (GRCm39)	M102I	probably damaging	Het
Or56b1b	A	C	7: 108,164,730 (GRCm39)	F91V	possibly damaging	Het
Or5aq1	T	A	2: 86,966,188 (GRCm39)	H159L	probably damaging	Het
Pkhd1l1	A	T	15: 44,404,280 (GRCm39)	H2303L	possibly damaging	Het
Podxl2	C	T	6: 88,826,587 (GRCm39)	V240M	probably benign	Het
Ppp2r5e	C	G	12: 75,516,341 (GRCm39)	A239P	probably damaging	Het
Prss53	T	C	7: 127,485,434 (GRCm39)	*553W	probably null	Het
Psma3	T	A	12: 71,031,468 (GRCm39)	M43K	probably benign	Het
Rad50	G	T	11: 53,570,888 (GRCm39)	T790K	probably benign	Het
Rasgrf1	G	T	9: 89,835,966 (GRCm39)	Q231H	probably damaging	Het
Rpn1	T	A	6: 88,070,841 (GRCm39)	V237E	probably damaging	Het
Scn10a	T	A	9: 119,439,064 (GRCm39)	M1601L	probably damaging	Het
Sema4f	G	T	6: 82,907,908 (GRCm39)	P180Q	probably damaging	Het
Serpinb5	A	G	1: 106,803,851 (GRCm39)	E8G	probably damaging	Het
Sgcg	C	T	14: 61,469,861 (GRCm39)	V167I	possibly damaging	Het
Slc25a13	C	T	6: 6,109,262 (GRCm39)	V367M	probably damaging	Het
Spata31	T	C	13: 65,068,424 (GRCm39)	S191P	probably benign	Het
Srbd1	A	G	17: 86,410,321 (GRCm39)	V537A	probably damaging	Het
Srgap1	G	T	10: 121,761,808 (GRCm39)	D113E	possibly damaging	Het
Srl	A	G	16: 4,310,214 (GRCm39)	I505T	probably damaging	Het
St14	G	A	9: 31,017,508 (GRCm39)	T226I	probably benign	Het
Stard9	T	A	2: 120,529,137 (GRCm39)	I1798N	possibly damaging	Het
Sugp1	A	G	8: 70,509,225 (GRCm39)	E166G	possibly damaging	Het
Susd1	A	T	4: 59,351,695 (GRCm39)	N455K	possibly damaging	Het
Sytl3	T	A	17: 7,000,445 (GRCm39)	V205E	probably damaging	Het
Tenm4	A	G	7: 96,544,533 (GRCm39)	Y2183C	probably damaging	Het
Tktl2	G	A	8: 66,964,999 (GRCm39)	V186M	probably damaging	Het
Tlcd3b	T	A	7: 126,426,844 (GRCm39)		probably null	Het
Tlr1	T	G	5: 65,082,781 (GRCm39)	T599P	possibly damaging	Het
Trpc6	G	A	9: 8,656,546 (GRCm39)	D658N	probably damaging	Het
Ttc39b	A	G	4: 83,150,957 (GRCm39)	V546A	possibly damaging	Het
Ube3c	T	C	5: 29,824,657 (GRCm39)	Y561H	probably damaging	Het
Vmn1r29	T	A	6: 58,284,405 (GRCm39)	S42T	probably benign	Het
Vps4a	T	C	8: 107,771,190 (GRCm39)	V392A	probably benign	Het
Wdfy4	T	C	14: 32,855,301 (GRCm39)	E771G	probably benign	Het
Whrn	G	A	4: 63,333,876 (GRCm39)	Q415*	probably null	Het
Wnt5a	C	T	14: 28,233,802 (GRCm39)	P10L	probably benign	Het
Zfhx2	T	C	14: 55,312,695 (GRCm39)		probably benign	Het
Zfp451	T	C	1: 33,816,903 (GRCm39)	K132R	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
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
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'- ACTGGCCCCATATTGTAGGC -3'
(R):5'- TCAAGGGCTGCTCTTACTCAC -3'

Sequencing Primer
(F):5'- CACAAACAGACATTTCTTTGGGGG -3'
(R):5'- TGCTCTTACTCACCTCATCAAACAG -3'

Posted On

2014-07-14