Incidental Mutation 'IGL02002:Hscb'
ID 183097
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hscb
Ensembl Gene ENSMUSG00000043510
Gene Name HscB iron-sulfur cluster co-chaperone
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # IGL02002
Quality Score
Status
Chromosome 5
Chromosomal Location 110976936-110987643 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 110978820 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 199 (N199D)
Ref Sequence ENSEMBL: ENSMUSP00000062811 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056937] [ENSMUST00000145318]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000056937
AA Change: N199D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000062811
Gene: ENSMUSG00000043510
AA Change: N199D

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
DnaJ 19 84 6.53e-3 SMART
Coding Region Coverage
Validation Efficiency
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg5 G T 17: 84,989,479 (GRCm39) Y76* probably null Het
Acadsb T A 7: 131,030,258 (GRCm39) V135E probably damaging Het
Acap1 A G 11: 69,775,286 (GRCm39) Y326H probably damaging Het
Actl11 T A 9: 107,806,529 (GRCm39) V284D probably benign Het
Adcy10 G T 1: 165,349,412 (GRCm39) D428Y probably damaging Het
Akap8 A G 17: 32,528,470 (GRCm39) C481R probably damaging Het
Amotl2 G A 9: 102,602,316 (GRCm39) A26T probably damaging Het
Apob T C 12: 8,044,822 (GRCm39) V814A probably benign Het
Casp8ap2 T A 4: 32,639,391 (GRCm39) N148K probably damaging Het
Ccdc149 G A 5: 52,563,421 (GRCm39) T124M probably damaging Het
Cd320 A G 17: 34,062,214 (GRCm39) probably benign Het
Clca4b T C 3: 144,638,194 (GRCm39) T23A probably benign Het
Col22a1 A G 15: 71,682,946 (GRCm39) probably benign Het
Col24a1 T A 3: 145,062,699 (GRCm39) F675I possibly damaging Het
Col6a3 A G 1: 90,709,858 (GRCm39) probably benign Het
Dap3 A T 3: 88,843,535 (GRCm39) M19K probably benign Het
Dsg2 A G 18: 20,712,233 (GRCm39) D123G probably damaging Het
Dysf T A 6: 84,187,769 (GRCm39) probably benign Het
Erbb4 A G 1: 68,119,885 (GRCm39) S853P probably damaging Het
Fbn2 A G 18: 58,247,625 (GRCm39) M423T probably benign Het
Fcgbpl1 A T 7: 27,852,221 (GRCm39) Y1248F probably damaging Het
Fgfr1 T C 8: 26,045,727 (GRCm39) Y112H probably damaging Het
Gbp7 G A 3: 142,244,661 (GRCm39) A203T probably damaging Het
Gon4l C T 3: 88,802,643 (GRCm39) P1085S possibly damaging Het
Gsdma2 T C 11: 98,541,800 (GRCm39) F176L probably damaging Het
Haghl A G 17: 26,003,239 (GRCm39) F131S probably damaging Het
Hmcn1 G A 1: 150,491,049 (GRCm39) P4167S probably damaging Het
Lmbr1l T A 15: 98,802,666 (GRCm39) N428Y probably damaging Het
Mc2r T A 18: 68,540,505 (GRCm39) M263L probably benign Het
Metap1 T A 3: 138,168,150 (GRCm39) T325S probably damaging Het
Mff A G 1: 82,719,696 (GRCm39) R225G probably damaging Het
Naprt A T 15: 75,763,221 (GRCm39) L474Q probably damaging Het
Nin A T 12: 70,109,473 (GRCm39) Y155* probably null Het
Nrg3 A T 14: 38,092,724 (GRCm39) C612* probably null Het
Or2aj5 T C 16: 19,425,300 (GRCm39) I39M possibly damaging Het
Or5p52 A T 7: 107,502,497 (GRCm39) D191V possibly damaging Het
Or6c35 T A 10: 129,168,996 (GRCm39) I82K probably damaging Het
Pdilt A T 7: 119,099,667 (GRCm39) F200L probably damaging Het
Ppard T G 17: 28,517,877 (GRCm39) F315C probably damaging Het
Ror1 T A 4: 100,298,381 (GRCm39) S585T probably damaging Het
Spdye4a T A 5: 143,211,460 (GRCm39) I35F possibly damaging Het
Tenm2 T C 11: 36,097,922 (GRCm39) K442R probably benign Het
Tln2 A G 9: 67,263,980 (GRCm39) I553T probably damaging Het
Tmem269 T A 4: 119,071,338 (GRCm39) I26F probably benign Het
Tsen2 T C 6: 115,536,568 (GRCm39) V108A probably benign Het
Ttyh3 A T 5: 140,615,238 (GRCm39) D383E probably damaging Het
Tut7 A G 13: 59,929,910 (GRCm39) S1042P possibly damaging Het
Usp13 T C 3: 32,901,974 (GRCm39) S102P probably damaging Het
Vmn2r118 T G 17: 55,899,619 (GRCm39) S762R probably damaging Het
Washc4 A G 10: 83,415,407 (GRCm39) N799S possibly damaging Het
Zdhhc17 C T 10: 110,803,550 (GRCm39) V256I probably benign Het
Zfp51 T A 17: 21,684,221 (GRCm39) F279I probably damaging Het
Zzz3 A G 3: 152,157,006 (GRCm39) T223A probably damaging Het
Other mutations in Hscb
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2014-05-07