Mutagenetix > Incidental Mutation

Incidental Mutation 'R7225:Clpb'

562097

Institutional Source

Beutler Lab

Gene Symbol

Clpb

Ensembl Gene

ENSMUSG00000001829

Gene Name

ClpB caseinolytic peptidase B

Synonyms

Skd3

MMRRC Submission

045297-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.910) question?

Stock #

R7225 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101312958-101444667 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 101360672 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 234 (L234Q)

Ref Sequence

ENSEMBL: ENSMUSP00000102611 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001884] [ENSMUST00000106998] [ENSMUST00000123870] [ENSMUST00000209579]

AlphaFold

Q60649

Predicted Effect

probably benign
Transcript: ENSMUST00000001884

SMART Domains

Protein: ENSMUSP00000001884
Gene: ENSMUSG00000001829

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: L234Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000102611
Gene: ENSMUSG00000001829
AA Change: L234Q

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

probably benign
Transcript: ENSMUST00000123870

Predicted Effect

probably benign
Transcript: ENSMUST00000209579

Meta Mutation Damage Score

0.1803

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (62/63)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	T	C	12: 110,637,299 (GRCm39)		probably benign	Het
5730480H06Rik	T	A	5: 48,537,575 (GRCm39)		probably null	Het
Actn4	A	T	7: 28,598,124 (GRCm39)	V492D	probably damaging	Het
Alpk2	T	C	18: 65,438,270 (GRCm39)	E1041G	probably benign	Het
Asap1	G	A	15: 64,002,099 (GRCm39)	T404M	probably damaging	Het
Cd22	C	T	7: 30,577,059 (GRCm39)	A83T	not run	Het
Cdan1	T	C	2: 120,555,393 (GRCm39)	T783A	probably benign	Het
Cdh9	C	T	15: 16,856,159 (GRCm39)	S733F	probably damaging	Het
Cfap54	A	G	10: 92,740,236 (GRCm39)	F2282S	unknown	Het
Chst9	T	C	18: 15,585,718 (GRCm39)	K282E	probably damaging	Het
Clcn1	G	A	6: 42,270,396 (GRCm39)	D232N	probably damaging	Het
Cluh	T	G	11: 74,557,232 (GRCm39)		probably null	Het
Cnp	C	T	11: 100,471,413 (GRCm39)	Q352*	probably null	Het
Cyfip1	AGTGT	AGT	7: 55,577,937 (GRCm39)		probably null	Het
Dtx3	C	T	10: 127,027,358 (GRCm39)	C272Y	probably damaging	Het
Dync2h1	A	G	9: 7,142,756 (GRCm39)	I1156T	probably benign	Het
Epg5	T	A	18: 78,055,917 (GRCm39)	V1697E	probably benign	Het
Exoc3l4	A	G	12: 111,390,058 (GRCm39)	D211G	probably benign	Het
Fank1	A	G	7: 133,454,988 (GRCm39)	K36R	probably benign	Het
Fat4	T	C	3: 39,034,325 (GRCm39)	I2659T	possibly damaging	Het
Fer1l5	T	C	1: 36,460,033 (GRCm39)	W1893R	possibly damaging	Het
Gorasp2	T	A	2: 70,514,391 (GRCm39)	L256Q	probably damaging	Het
Gpc5	T	G	14: 115,789,710 (GRCm39)	V528G	probably damaging	Het
Gria2	T	A	3: 80,709,938 (GRCm39)		probably benign	Het
Htatip2	A	G	7: 49,420,604 (GRCm39)	E150G	possibly damaging	Het
Jak3	C	A	8: 72,138,155 (GRCm39)	Q869K	probably benign	Het
Jmjd1c	T	C	10: 67,061,844 (GRCm39)	V1218A	probably benign	Het
Kcnf1	A	G	12: 17,225,694 (GRCm39)	C176R	possibly damaging	Het
Kcnq4	A	G	4: 120,604,111 (GRCm39)	V88A	probably benign	Het
Lmod3	T	A	6: 97,224,345 (GRCm39)	D492V	probably benign	Het
Lurap1l	A	C	4: 80,829,718 (GRCm39)	S43R	probably benign	Het
Mamdc4	T	C	2: 25,455,558 (GRCm39)	H890R	possibly damaging	Het
Mertk	T	G	2: 128,643,482 (GRCm39)	N960K	possibly damaging	Het
Nudt9	C	A	5: 104,212,966 (GRCm39)	D346E	probably benign	Het
Obi1	T	C	14: 104,717,294 (GRCm39)	T360A	probably benign	Het
Opa1	A	G	16: 29,432,857 (GRCm39)		probably null	Het
Or5an1	A	T	19: 12,260,831 (GRCm39)	T140S	probably benign	Het
Oxr1	C	T	15: 41,677,004 (GRCm39)	P187L	not run	Het
Paxbp1	T	C	16: 90,823,956 (GRCm39)	E564G	probably damaging	Het
Pcdhb13	C	T	18: 37,577,490 (GRCm39)	R623C	possibly damaging	Het
Pkhd1l1	G	T	15: 44,410,337 (GRCm39)	V2615F	probably damaging	Het
Plin3	T	C	17: 56,593,541 (GRCm39)	T58A	possibly damaging	Het
Por	A	G	5: 135,761,441 (GRCm39)	D309G	probably benign	Het
Ppp2r5e	T	C	12: 75,515,353 (GRCm39)	K261R	probably damaging	Het
Ptpn18	C	T	1: 34,511,927 (GRCm39)	T366I	possibly damaging	Het
Ptprz1	G	A	6: 23,000,928 (GRCm39)	G1006E	possibly damaging	Het
Rpl12	C	T	2: 32,851,909 (GRCm39)		probably benign	Het
Rpsa	T	G	9: 119,960,222 (GRCm39)	F262V	probably benign	Het
Sh3pxd2a	G	T	19: 47,255,828 (GRCm39)	N991K	probably damaging	Het
Shank2	T	A	7: 143,838,762 (GRCm39)	N19K	probably benign	Het
Sik1	T	C	17: 32,073,274 (GRCm39)	T61A	probably benign	Het
Sipa1l3	A	C	7: 29,098,853 (GRCm39)	V472G	probably damaging	Het
Sirt6	A	G	10: 81,458,315 (GRCm39)	S313P	probably benign	Het
Slc12a7	A	G	13: 73,912,081 (GRCm39)		probably benign	Het
Sox13	A	T	1: 133,314,862 (GRCm39)	V266E	probably benign	Het
Spag9	T	C	11: 93,988,184 (GRCm39)	C833R	probably damaging	Het
Tcof1	T	C	18: 60,961,520 (GRCm39)	T812A	unknown	Het
Tnfsf4	A	G	1: 161,244,821 (GRCm39)	D170G	possibly damaging	Het
Tshz3	A	G	7: 36,469,082 (GRCm39)	N357S	probably damaging	Het
Txk	C	T	5: 72,858,057 (GRCm39)	D418N	probably damaging	Het
Ube2j2	A	G	4: 156,033,773 (GRCm39)		probably null	Het
Vmn2r84	G	A	10: 130,222,552 (GRCm39)	P556L	probably damaging	Het
Zfp1007	T	C	5: 109,825,015 (GRCm39)	H145R	possibly damaging	Het
Zfp442	T	C	2: 150,250,925 (GRCm39)	N326D	probably benign	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
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'- TGAGACCTGAAGAACTGGGC -3'
(R):5'- TGCATTCTCTATTGTGCCAGG -3'

Sequencing Primer
(F):5'- CTGAAGAACTGGGCTGGCATG -3'
(R):5'- CATTCTCTATTGTGCCAGGGGAGG -3'

Posted On

2019-06-26