Mutagenetix > Incidental Mutation

Incidental Mutation 'R7239:Clpb'

563079

Institutional Source

Beutler Lab

Gene Symbol

Clpb

Ensembl Gene

ENSMUSG00000001829

Gene Name

ClpB caseinolytic peptidase B

Synonyms

Skd3

MMRRC Submission

045346-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.912) question?

Stock #

R7239 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101312958-101444667 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101360662 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 231 (T231A)

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: T231A

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000102611
Gene: ENSMUSG00000001829
AA Change: T231A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

99% (76/77)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510009E07Rik	A	G	16: 21,472,268 (GRCm39)	V144A	probably damaging	Het
Abca5	A	T	11: 110,217,530 (GRCm39)	Y109N	possibly damaging	Het
Abcb5	T	C	12: 118,892,460 (GRCm39)	Q433R	probably benign	Het
Adamts7	G	A	9: 90,068,610 (GRCm39)		probably null	Het
Adgrv1	T	C	13: 81,624,731 (GRCm39)	D3746G	possibly damaging	Het
Arhgap29	C	T	3: 121,782,599 (GRCm39)	S159L	probably benign	Het
Arhgap5	T	A	12: 52,564,159 (GRCm39)	C377S	probably benign	Het
Atp1a3	G	A	7: 24,700,129 (GRCm39)	P77L	probably damaging	Het
B4galt1	T	C	4: 40,812,754 (GRCm39)	D257G	probably damaging	Het
Bin1	T	A	18: 32,539,224 (GRCm39)	N52K	probably damaging	Het
Catsperg2	A	G	7: 29,409,507 (GRCm39)	M562T	probably benign	Het
Ccdc33	G	A	9: 57,940,192 (GRCm39)	Q713*	probably null	Het
Cd96	A	T	16: 45,929,477 (GRCm39)	L156Q	probably damaging	Het
Dnaaf9	C	A	2: 130,648,708 (GRCm39)	R258L	unknown	Het
Dnmt3a	A	T	12: 3,922,850 (GRCm39)	Q151L	probably benign	Het
Dock2	C	T	11: 34,181,677 (GRCm39)	V1629M	probably benign	Het
Edem1	G	A	6: 108,831,341 (GRCm39)	D601N	probably benign	Het
Eno2	C	T	6: 124,745,228 (GRCm39)	V20M	probably damaging	Het
Eny2	A	C	15: 44,297,250 (GRCm39)	D52A	probably benign	Het
Esp36	T	C	17: 38,728,132 (GRCm39)	R93G	possibly damaging	Het
Fam227a	A	G	15: 79,518,263 (GRCm39)		probably null	Het
Fat4	C	A	3: 39,037,989 (GRCm39)	H3880Q	possibly damaging	Het
Fbxw24	A	T	9: 109,434,598 (GRCm39)	V334E	possibly damaging	Het
Flrt1	T	C	19: 7,073,329 (GRCm39)	Q406R	probably benign	Het
Frmpd2	A	G	14: 33,274,034 (GRCm39)	N1092S	probably benign	Het
Gm904	C	A	13: 50,799,287 (GRCm39)	T82K	probably benign	Het
Gnas	G	C	2: 174,140,408 (GRCm39)	G252R	unknown	Het
Gpatch2l	A	G	12: 86,307,349 (GRCm39)		probably null	Het
H2ac6	A	T	13: 23,867,593 (GRCm39)	I103N	probably damaging	Het
Ift74	T	C	4: 94,541,187 (GRCm39)	V204A	probably benign	Het
Ikzf4	A	G	10: 128,477,113 (GRCm39)	L119P	probably damaging	Het
Ing3	G	A	6: 21,952,193 (GRCm39)	E56K	probably damaging	Het
Klhl25	T	C	7: 75,516,516 (GRCm39)	I474T	probably benign	Het
Klhl5	T	C	5: 65,318,529 (GRCm39)	V556A	probably damaging	Het
Krt14	A	T	11: 100,095,081 (GRCm39)	M382K	probably benign	Het
Lmcd1	T	C	6: 112,292,745 (GRCm39)	V199A	possibly damaging	Het
Lpcat4	T	A	2: 112,073,052 (GRCm39)	F200I	possibly damaging	Het
Lrp1b	T	C	2: 40,894,725 (GRCm39)	T2282A		Het
Lrrk1	T	C	7: 65,911,903 (GRCm39)	T1886A	probably benign	Het
Meis2	T	C	2: 115,889,484 (GRCm39)		probably null	Het
Mki67	C	T	7: 135,301,905 (GRCm39)	R1043K	possibly damaging	Het
Myct1	G	T	10: 5,554,601 (GRCm39)	R156L	possibly damaging	Het
Nckap5l	G	T	15: 99,324,090 (GRCm39)	H804Q	probably damaging	Het
Ndst3	T	G	3: 123,400,555 (GRCm39)	E450D	probably damaging	Het
Nipbl	A	T	15: 8,321,619 (GRCm39)		probably null	Het
Npy	A	G	6: 49,800,587 (GRCm39)	N4D	probably benign	Het
Or7g35	A	T	9: 19,496,487 (GRCm39)	Y218F	probably damaging	Het
Osgin2	T	C	4: 16,008,748 (GRCm39)	S18G	probably benign	Het
Pcdha9	T	G	18: 37,131,551 (GRCm39)	F207V	probably benign	Het
Pcdhb13	A	T	18: 37,577,697 (GRCm39)	I692F	probably damaging	Het
Pde3b	T	A	7: 114,015,384 (GRCm39)	V200E	probably damaging	Het
Ppp6r3	A	T	19: 3,543,981 (GRCm39)	L345I	probably benign	Het
Psd2	G	A	18: 36,113,472 (GRCm39)	A315T	probably damaging	Het
Rnf111	G	A	9: 70,376,655 (GRCm39)	T328I	probably damaging	Het
Rnf213	T	C	11: 119,349,614 (GRCm39)	L3825P		Het
Rtl1	C	T	12: 109,558,909 (GRCm39)	V977I	probably benign	Het
Scn1a	G	A	2: 66,108,000 (GRCm39)		probably null	Het
Slc25a2	G	T	18: 37,770,748 (GRCm39)	N260K	probably benign	Het
Sprtn	T	C	8: 125,626,983 (GRCm39)	V121A	probably damaging	Het
Ssx2ip	T	G	3: 146,133,771 (GRCm39)	L260W	probably damaging	Het
Syde1	G	A	10: 78,424,615 (GRCm39)	R406C	probably damaging	Het
Tab1	A	G	15: 80,017,372 (GRCm39)	R6G	probably benign	Het
Tenm4	G	A	7: 96,202,703 (GRCm39)	R106H	probably benign	Het
Tenm4	G	A	7: 96,385,020 (GRCm39)	V526I	possibly damaging	Het
Tfap2b	T	C	1: 19,304,404 (GRCm39)	F405L	probably damaging	Het
Trbv13-1	C	A	6: 41,093,325 (GRCm39)	T87K	probably benign	Het
Trmt44	G	T	5: 35,732,130 (GRCm39)	A87E	probably benign	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,617,634 (GRCm39)	D16279G	probably damaging	Het
Ttn	G	A	2: 76,711,672 (GRCm39)	R8290C	unknown	Het
Ugt2b37	T	A	5: 87,402,590 (GRCm39)	I14L	probably benign	Het
Vmn1r13	A	T	6: 57,187,611 (GRCm39)	M257L	probably benign	Het
Vmn1r184	C	T	7: 25,966,602 (GRCm39)	P116L	possibly damaging	Het
Zfp426	T	C	9: 20,381,887 (GRCm39)	T367A	probably benign	Het
Zfp647	A	T	15: 76,795,956 (GRCm39)	C235S	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
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
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'- CATGCATTCTCTATTGTGCCAGG -3'

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

Posted On

2019-06-26