Mutagenetix > Incidental Mutation

Incidental Mutation 'R0277:Hscb'

65292

Institutional Source

Beutler Lab

Gene Symbol

Hscb

Ensembl Gene

ENSMUSG00000043510

Gene Name

HscB iron-sulfur cluster co-chaperone

Synonyms

MMRRC Submission

038499-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R0277 (G1)

Quality Score

163

Status

Validated

Chromosome

Chromosomal Location

110976936-110987643 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110982556 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 177 (E177G)

Ref Sequence

ENSEMBL: ENSMUSP00000062811 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056937] [ENSMUST00000145318]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056937
AA Change: E177G

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000062811
Gene: ENSMUSG00000043510
AA Change: E177G

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
DnaJ	70	135	6.53e-3	SMART
Pfam:HSCB_C	156	228	9.4e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122921

Predicted Effect

probably benign
Transcript: ENSMUST00000144850

Predicted Effect

probably benign
Transcript: ENSMUST00000145318

SMART Domains

Protein: ENSMUSP00000120926
Gene: ENSMUSG00000043510

Domain	Start	End	E-Value	Type
DnaJ	19	84	6.53e-3	SMART

Meta Mutation Damage Score

0.0974

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 95.0%
20x: 89.3%

Validation Efficiency

99% (111/112)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a DnaJ-type co-chaperone and member of the heat shock cognate B (HscB) family of proteins. The encoded protein plays a role in the synthesis of iron-sulfur clusters, protein cofactors that are involved in the redox reactions of mitochondrial electron transport and other processes. Cells in which this gene is knocked down exhibit reduced activity of iron-sulfur cluster-dependent enzymes including succinate dehydrogenase and aconitase. The encoded protein may stimulate the ATPase activity of the mitochondrial stress-70 protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

Allele List at MGI

Other mutations in this stock

Total: 109 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533L02Rik	A	G	7: 124,917,815 (GRCm39)	K69R	unknown	Het
Abca13	A	C	11: 9,244,701 (GRCm39)	D2188A	probably benign	Het
Acad11	T	C	9: 104,001,224 (GRCm39)	M708T	probably damaging	Het
Adam7	T	C	14: 68,748,306 (GRCm39)		probably null	Het
Adgre1	T	A	17: 57,751,060 (GRCm39)	I578N	probably benign	Het
Agbl4	T	C	4: 111,474,419 (GRCm39)	S403P	probably damaging	Het
Ak3	A	G	19: 29,025,192 (GRCm39)	M13T	possibly damaging	Het
Ap2s1	T	C	7: 16,481,305 (GRCm39)		probably benign	Het
Arhgef1	A	T	7: 24,623,224 (GRCm39)		probably benign	Het
Arsk	T	C	13: 76,223,051 (GRCm39)	N182S	probably benign	Het
Aspscr1	G	A	11: 120,569,246 (GRCm39)	V15I	probably damaging	Het
Asxl2	A	G	12: 3,492,487 (GRCm39)	Y24C	probably damaging	Het
Atp8b1	A	G	18: 64,701,323 (GRCm39)	F345S	possibly damaging	Het
Atp8b3	T	C	10: 80,362,743 (GRCm39)	K672E	probably benign	Het
Bltp1	T	A	3: 36,997,331 (GRCm39)	C1129*	probably null	Het
Bmp2k	A	G	5: 97,235,682 (GRCm39)		probably benign	Het
Casp6	T	A	3: 129,704,172 (GRCm39)	V86E	probably benign	Het
Cdca5	A	G	19: 6,140,742 (GRCm39)	E260G	unknown	Het
Cpb2	T	A	14: 75,502,898 (GRCm39)	V159D	probably damaging	Het
Cylc2	T	A	4: 51,228,477 (GRCm39)	S183T	unknown	Het
Dhtkd1	T	A	2: 5,919,699 (GRCm39)	M561L	probably benign	Het
Dync2h1	T	C	9: 7,129,046 (GRCm39)	D1823G	probably benign	Het
Efcab5	G	A	11: 77,031,749 (GRCm39)	R42W	probably damaging	Het
Erc1	T	C	6: 119,597,289 (GRCm39)	K1003E	probably damaging	Het
Ezr	G	A	17: 7,022,164 (GRCm39)	Q105*	probably null	Het
Fam83d	T	A	2: 158,627,467 (GRCm39)	D385E	probably benign	Het
Fbn2	A	G	18: 58,178,389 (GRCm39)	C1950R	probably damaging	Het
Fbxo32	A	T	15: 58,047,605 (GRCm39)	I236N	probably damaging	Het
Fcgbp	G	T	7: 27,784,918 (GRCm39)		probably null	Het
Foxe3	T	C	4: 114,782,805 (GRCm39)	N136D	probably damaging	Het
Fscn2	A	T	11: 120,258,837 (GRCm39)	I461F	probably damaging	Het
Gldc	A	G	19: 30,093,851 (GRCm39)	I722T	possibly damaging	Het
Gm10717	T	G	9: 3,025,619 (GRCm39)	V68G	possibly damaging	Het
Gm4841	A	G	18: 60,403,718 (GRCm39)	L125S	possibly damaging	Het
Gnl3	A	C	14: 30,735,384 (GRCm39)		probably null	Het
Gsto1	A	T	19: 47,846,416 (GRCm39)	I88F	probably damaging	Het
Gucy1b1	T	A	3: 81,945,463 (GRCm39)		probably null	Het
Hhla1	C	A	15: 65,820,352 (GRCm39)	V133F	probably benign	Het
Hipk3	T	A	2: 104,271,593 (GRCm39)	L446F	probably damaging	Het
Hsd17b6	T	C	10: 127,827,274 (GRCm39)	D266G	probably benign	Het
Ipo4	T	C	14: 55,869,572 (GRCm39)	S363G	probably benign	Het
Kcnip3	A	G	2: 127,301,899 (GRCm39)		probably benign	Het
Klhl41	A	G	2: 69,501,640 (GRCm39)	Y367C	probably damaging	Het
Klk1b4	C	G	7: 43,861,053 (GRCm39)	P232R	possibly damaging	Het
Lcp2	A	G	11: 34,004,322 (GRCm39)	D53G	probably damaging	Het
Llgl2	A	G	11: 115,741,546 (GRCm39)	K559E	probably damaging	Het
Lrrc59	A	C	11: 94,534,248 (GRCm39)	T269P	probably damaging	Het
Mark1	A	G	1: 184,677,149 (GRCm39)	S34P	possibly damaging	Het
Megf11	G	A	9: 64,598,632 (GRCm39)		probably null	Het
Mplkip	A	G	13: 17,871,565 (GRCm39)	I159V	possibly damaging	Het
Muc4	C	A	16: 32,755,690 (GRCm38)		probably benign	Het
Myo18b	A	G	5: 112,841,213 (GRCm39)		probably benign	Het
Myo9b	T	C	8: 71,808,596 (GRCm39)		probably benign	Het
Napg	C	T	18: 63,120,034 (GRCm39)	R149C	probably damaging	Het
Ndrg3	A	G	2: 156,776,855 (GRCm39)		probably benign	Het
Nfe2l3	T	A	6: 51,434,448 (GRCm39)	M336K	probably benign	Het
Nrxn1	A	C	17: 91,008,170 (GRCm39)		probably null	Het
Nsun3	A	T	16: 62,597,007 (GRCm39)		probably benign	Het
Nuak1	T	C	10: 84,210,315 (GRCm39)	E591G	probably benign	Het
Or10g1b	T	C	14: 52,627,846 (GRCm39)	Y128C	probably damaging	Het
Or10s1	G	A	9: 39,986,010 (GRCm39)	V140I	probably benign	Het
Or1e17	A	T	11: 73,831,773 (GRCm39)	I234F	probably benign	Het
Or4k2	T	C	14: 50,423,789 (GRCm39)	N296S	probably null	Het
Or6c70	T	A	10: 129,709,936 (GRCm39)	Q230L	probably damaging	Het
Or6d15	A	T	6: 116,559,562 (GRCm39)	V115E	probably damaging	Het
Or6z6	T	A	7: 6,491,433 (GRCm39)	M147L	probably benign	Het
Orc4	A	T	2: 48,827,479 (GRCm39)	V38E	possibly damaging	Het
Ovgp1	T	C	3: 105,887,208 (GRCm39)		probably benign	Het
Palm3	T	A	8: 84,755,349 (GRCm39)	V287D	probably damaging	Het
Pde4dip	T	A	3: 97,751,028 (GRCm39)	H62L	probably benign	Het
Pdk4	G	T	6: 5,491,620 (GRCm39)	P100Q	probably damaging	Het
Pdss2	T	A	10: 43,248,172 (GRCm39)	H225Q	probably benign	Het
Pkhd1	A	T	1: 20,345,762 (GRCm39)	D2755E	probably benign	Het
Prune2	A	T	19: 17,098,753 (GRCm39)	D1419V	probably damaging	Het
Pth2r	A	C	1: 65,427,775 (GRCm39)	I483L	probably benign	Het
Qrsl1	A	G	10: 43,772,003 (GRCm39)		probably null	Het
Rab11fip4	A	G	11: 79,577,455 (GRCm39)	H403R	possibly damaging	Het
Ralgapa1	A	T	12: 55,724,023 (GRCm39)	I1548N	probably damaging	Het
Ric8a	T	G	7: 140,437,813 (GRCm39)		probably benign	Het
Rsbn1	T	C	3: 103,821,897 (GRCm39)	F44S	possibly damaging	Het
Serpinc1	T	A	1: 160,817,272 (GRCm39)	M1K	probably null	Het
Sf3b1	T	C	1: 55,058,416 (GRCm39)	I58V	probably damaging	Het
Sh3d19	T	A	3: 86,033,978 (GRCm39)	M777K	probably benign	Het
Sipa1	A	T	19: 5,704,093 (GRCm39)	M743K	probably benign	Het
Skint5	T	C	4: 113,794,818 (GRCm39)	H255R	probably benign	Het
Slco6b1	A	T	1: 96,916,398 (GRCm39)		noncoding transcript	Het
Slfn4	A	T	11: 83,077,777 (GRCm39)	R188S	probably damaging	Het
Sort1	T	C	3: 108,231,908 (GRCm39)		probably benign	Het
Spg21	A	T	9: 65,372,629 (GRCm39)	K20N	possibly damaging	Het
Sptbn2	A	T	19: 4,795,173 (GRCm39)	I1544F	probably benign	Het
Srf	T	C	17: 46,860,415 (GRCm39)	T456A	possibly damaging	Het
Ssbp2	T	A	13: 91,712,715 (GRCm39)		probably benign	Het
Stx2	C	T	5: 129,065,967 (GRCm39)	V230I	probably benign	Het
Sv2b	A	T	7: 74,856,187 (GRCm39)	D34E	possibly damaging	Het
Synpo2l	A	G	14: 20,711,856 (GRCm39)	S255P	probably damaging	Het
Tbx15	C	T	3: 99,259,707 (GRCm39)	P526L	probably damaging	Het
Tenm4	C	A	7: 96,344,157 (GRCm39)	P250Q	possibly damaging	Het
Tgm1	C	A	14: 55,948,384 (GRCm39)		probably benign	Het
Tgm1	T	C	14: 55,950,109 (GRCm39)		probably benign	Het
Thsd7b	A	G	1: 130,123,000 (GRCm39)	I1540V	probably benign	Het
Tnrc6c	A	G	11: 117,630,707 (GRCm39)	K1023E	probably damaging	Het
Ube2l6	A	T	2: 84,636,771 (GRCm39)		probably null	Het
Uty	T	A	Y: 1,169,979 (GRCm39)	I326F	probably damaging	Het
Wdfy4	T	C	14: 32,805,742 (GRCm39)	D1735G	possibly damaging	Het
Wnt11	A	G	7: 98,496,590 (GRCm39)	K177E	probably damaging	Het
Wnt5a	A	T	14: 28,235,225 (GRCm39)	M70L	possibly damaging	Het
Wwc1	T	A	11: 35,743,175 (GRCm39)	E882V	probably damaging	Het
Zfp455	G	T	13: 67,346,728 (GRCm39)		probably null	Het
Zmpste24	A	G	4: 120,940,050 (GRCm39)	Y199H	probably damaging	Het

Other mutations in Hscb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02002:Hscb	APN	5	110,978,820 (GRCm39)	missense	probably benign	0.00
IGL02170:Hscb	APN	5	110,987,492 (GRCm39)	missense	probably damaging	1.00
potsticker	UTSW	5	110,982,658 (GRCm39)	missense	probably damaging	1.00
PIT4520001:Hscb	UTSW	5	110,983,851 (GRCm39)	missense	probably damaging	1.00
R0323:Hscb	UTSW	5	110,982,556 (GRCm39)	missense	possibly damaging	0.91
R1873:Hscb	UTSW	5	110,978,823 (GRCm39)	missense	probably benign
R1940:Hscb	UTSW	5	110,983,926 (GRCm39)	missense	probably benign
R3821:Hscb	UTSW	5	110,984,194 (GRCm39)	missense	probably damaging	1.00
R5294:Hscb	UTSW	5	110,982,658 (GRCm39)	missense	probably damaging	1.00
R5883:Hscb	UTSW	5	110,987,444 (GRCm39)	missense	probably benign
R6337:Hscb	UTSW	5	110,987,360 (GRCm39)	critical splice donor site	probably null
R7430:Hscb	UTSW	5	110,977,024 (GRCm39)	missense	probably benign	0.04
R7625:Hscb	UTSW	5	110,977,012 (GRCm39)	missense	probably damaging	1.00
R8052:Hscb	UTSW	5	110,983,844 (GRCm39)	missense	probably benign	0.04
R9574:Hscb	UTSW	5	110,982,595 (GRCm39)	missense	probably damaging	1.00
R9683:Hscb	UTSW	5	110,983,881 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

Posted On

2013-08-08