Mutagenetix > Incidental Mutation

Incidental Mutation 'R7625:Hscb'

589375

Institutional Source

Beutler Lab

Gene Symbol

Hscb

Ensembl Gene

ENSMUSG00000043510

Gene Name

HscB iron-sulfur cluster co-chaperone

Synonyms

MMRRC Submission

045719-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R7625 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110976936-110987643 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 110977012 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 227 (I227F)

Ref Sequence

ENSEMBL: ENSMUSP00000062811 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000056937
AA Change: I227F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000062811
Gene: ENSMUSG00000043510
AA Change: I227F

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

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

0.4674

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

98% (59/60)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	T	A	8: 111,773,587 (GRCm39)	V506E	probably damaging	Het
Acaa2	G	T	18: 74,937,213 (GRCm39)	V366F	possibly damaging	Het
Ago1	G	A	4: 126,337,022 (GRCm39)	R532C	probably benign	Het
Ank2	T	G	3: 126,846,449 (GRCm39)	D182A	probably damaging	Het
Anxa4	T	C	6: 86,714,801 (GRCm39)	D302G	probably damaging	Het
Apoa4	A	T	9: 46,154,410 (GRCm39)	E337V	probably damaging	Het
Atf1	A	G	15: 100,152,158 (GRCm39)		probably null	Het
Atp8b3	A	C	10: 80,355,980 (GRCm39)	V1244G	probably benign	Het
Cactin	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	10: 81,157,152 (GRCm39)		probably benign	Het
Camk2a	G	A	18: 61,085,412 (GRCm39)	V132M	probably damaging	Het
Cdc40	A	T	10: 40,724,048 (GRCm39)	Y247N	probably benign	Het
Chd8	G	A	14: 52,474,534 (GRCm39)	P166S	probably benign	Het
Chl1	T	A	6: 103,706,086 (GRCm39)	S1140R	probably damaging	Het
Clstn3	G	T	6: 124,414,377 (GRCm39)	S783*	probably null	Het
Col6a1	A	G	10: 76,549,760 (GRCm39)	S562P	unknown	Het
Cpb2	G	A	14: 75,509,989 (GRCm39)	V250M	possibly damaging	Het
Cyp2c38	T	A	19: 39,451,368 (GRCm39)	Q44L	possibly damaging	Het
Dgat1	T	C	15: 76,387,395 (GRCm39)	M325V	possibly damaging	Het
Dnah11	T	A	12: 118,160,377 (GRCm39)	M118L	probably benign	Het
Dpy19l3	T	A	7: 35,452,106 (GRCm39)	I13L	probably benign	Het
Enkd1	A	G	8: 106,431,265 (GRCm39)		probably null	Het
Fam241b	A	G	10: 61,970,479 (GRCm39)		probably benign	Het
Fhit	T	A	14: 9,870,177 (GRCm38)		probably null	Het
Gp6	T	C	7: 4,373,173 (GRCm39)	E250G	probably benign	Het
Hmgb1	T	C	5: 148,987,150 (GRCm39)	E84G	probably benign	Het
Hspg2	T	A	4: 137,292,249 (GRCm39)	L4047Q	probably damaging	Het
Hsph1	A	G	5: 149,541,901 (GRCm39)	L775P	probably benign	Het
Hydin	A	T	8: 111,268,476 (GRCm39)	S2947C	probably benign	Het
Intu	T	C	3: 40,652,029 (GRCm39)	S829P	probably benign	Het
Kcnn3	C	A	3: 89,516,977 (GRCm39)	T462K	probably damaging	Het
Kndc1	G	A	7: 139,517,930 (GRCm39)	C1622Y	possibly damaging	Het
Lifr	T	C	15: 7,198,723 (GRCm39)	Y318H	probably damaging	Het
Mier2	A	G	10: 79,378,543 (GRCm39)	S332P	probably damaging	Het
Mindy4	T	C	6: 55,253,598 (GRCm39)	I489T	possibly damaging	Het
Mmp8	A	T	9: 7,566,218 (GRCm39)	Q358L	probably benign	Het
Ms4a4a	T	A	19: 11,367,728 (GRCm39)		probably null	Het
Nav1	G	C	1: 135,395,483 (GRCm39)	S962C	probably damaging	Het
Nfe2l1	G	A	11: 96,710,271 (GRCm39)	R653C	probably damaging	Het
Nherf4	A	T	9: 44,161,594 (GRCm39)	I95N	probably damaging	Het
Nod2	A	T	8: 89,391,906 (GRCm39)	I738F	probably damaging	Het
Nrf1	G	A	6: 30,116,230 (GRCm39)	V301I	probably benign	Het
Oog1	T	C	12: 87,655,082 (GRCm39)	F410S	probably benign	Het
Or52a33	A	G	7: 103,289,165 (GRCm39)	Y61H	probably damaging	Het
Or6k4	G	A	1: 173,964,733 (GRCm39)	C141Y	probably benign	Het
Pcdhga8	G	A	18: 37,859,954 (GRCm39)	V337I	probably benign	Het
Pelp1	G	T	11: 70,286,260 (GRCm39)	N572K	probably benign	Het
Pikfyve	T	C	1: 65,307,036 (GRCm39)	V1808A	possibly damaging	Het
Pirt	A	C	11: 66,816,769 (GRCm39)	S27R	probably damaging	Het
Pramel20	A	T	4: 143,298,821 (GRCm39)	I255L	probably benign	Het
Rgs17	A	T	10: 5,791,488 (GRCm39)	D96E	probably benign	Het
Senp1	A	G	15: 97,964,679 (GRCm39)	F206L	probably benign	Het
Sh3rf1	T	A	8: 61,825,756 (GRCm39)	S584T	probably benign	Het
Tex44	A	T	1: 86,354,459 (GRCm39)	K123*	probably null	Het
Tpst2	C	A	5: 112,455,887 (GRCm39)	T142K	probably damaging	Het
Ttc28	G	A	5: 111,433,085 (GRCm39)	G2040R	possibly damaging	Het
Uggt2	T	A	14: 119,263,905 (GRCm39)	I1042F	probably damaging	Het
Vmn2r91	T	C	17: 18,325,693 (GRCm39)	S104P	probably damaging	Het
Wdfy3	T	C	5: 102,003,252 (GRCm39)		probably null	Het
Zeb2	G	A	2: 44,892,584 (GRCm39)	A223V	probably damaging	Het
Zfp1002	T	C	2: 150,096,520 (GRCm39)	D303G	probably benign	Het
Zfp566	A	G	7: 29,777,930 (GRCm39)	S84P	probably benign	Het
Zfp994	T	A	17: 22,420,736 (GRCm39)	H71L	possibly 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
R0277:Hscb	UTSW	5	110,982,556 (GRCm39)	missense	possibly damaging	0.91
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
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

PCR Primer
(F):5'- GAGCCATCACTGAACTGAAATC -3'
(R):5'- AGCTTTAACATTGTGTAGTGTTTGTC -3'

Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- GGAGGCTAAGATCTTTCACATCGTC -3'

Posted On

2019-10-24