Incidental Mutation 'IGL02170:Hscb'
ID 282894
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 # IGL02170
Quality Score
Status
Chromosome 5
Chromosomal Location 110976936-110987643 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 110987492 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 35 (S35C)
Ref Sequence ENSEMBL: ENSMUSP00000062811 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056937] [ENSMUST00000066160] [ENSMUST00000145318] [ENSMUST00000198373] [ENSMUST00000199937] [ENSMUST00000200172]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000056937
AA Change: S35C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000062811
Gene: ENSMUSG00000043510
AA Change: S35C

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 probably benign
Transcript: ENSMUST00000066160
SMART Domains Protein: ENSMUSP00000066679
Gene: ENSMUSG00000029521

DomainStartEndE-ValueType
low complexity region 2 37 N/A INTRINSIC
low complexity region 41 72 N/A INTRINSIC
FHA 116 179 5.14e-3 SMART
S_TKc 224 490 7.35e-104 SMART
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
Predicted Effect probably benign
Transcript: ENSMUST00000198373
Predicted Effect probably benign
Transcript: ENSMUST00000199937
SMART Domains Protein: ENSMUSP00000143558
Gene: ENSMUSG00000029521

DomainStartEndE-ValueType
low complexity region 2 37 N/A INTRINSIC
low complexity region 41 72 N/A INTRINSIC
FHA 116 179 2.6e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200630
Predicted Effect probably benign
Transcript: ENSMUST00000200172
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610318N02Rik G A 16: 16,936,196 (GRCm39) P176L probably damaging Het
4932414N04Rik A G 2: 68,561,467 (GRCm39) M265V probably benign Het
A2ml1 T C 6: 128,524,173 (GRCm39) E1153G possibly damaging Het
Adam22 T C 5: 8,184,845 (GRCm39) T452A probably benign Het
Ambra1 A G 2: 91,597,432 (GRCm39) T56A possibly damaging Het
Atp1a4 A G 1: 172,062,103 (GRCm39) V674A possibly damaging Het
Ccnb1 A T 13: 100,919,994 (GRCm39) Y172* probably null Het
Chrdl2 A T 7: 99,683,821 (GRCm39) T416S possibly damaging Het
Col6a5 A G 9: 105,805,621 (GRCm39) L1095P unknown Het
Dhx16 T C 17: 36,200,361 (GRCm39) C901R probably damaging Het
Dip2c A G 13: 9,656,371 (GRCm39) T732A probably benign Het
Dnah12 A C 14: 26,495,069 (GRCm39) I1376L probably damaging Het
Dock2 A T 11: 34,217,949 (GRCm39) L1207Q probably damaging Het
Eif2ak1 A T 5: 143,816,278 (GRCm39) H192L probably benign Het
Evi5 T A 5: 107,969,750 (GRCm39) T54S probably benign Het
Fam151a T C 4: 106,592,795 (GRCm39) probably null Het
Fam98a C T 17: 75,847,187 (GRCm39) probably null Het
Frmd4a G A 2: 4,570,988 (GRCm39) R306K probably damaging Het
Fxyd7 C A 7: 30,744,432 (GRCm39) V28L possibly damaging Het
Gabrb1 T A 5: 72,294,073 (GRCm39) I449K probably damaging Het
Gkn3 G T 6: 87,360,493 (GRCm39) D167E possibly damaging Het
Gm14496 A T 2: 181,638,144 (GRCm39) Y406F probably damaging Het
Gm8603 T A 17: 13,737,073 (GRCm39) noncoding transcript Het
Hecw1 T C 13: 14,438,743 (GRCm39) N880S possibly damaging Het
Hivep2 C A 10: 14,003,548 (GRCm39) Q49K possibly damaging Het
Hspa12a T G 19: 58,793,113 (GRCm39) K357N probably benign Het
Kcnu1 A T 8: 26,427,588 (GRCm39) I302F probably damaging Het
Krtap5-3 T A 7: 141,756,215 (GRCm39) C351S unknown Het
Mvd A G 8: 123,164,747 (GRCm39) V142A probably benign Het
Myo1f A T 17: 33,797,246 (GRCm39) I143L probably benign Het
Ncoa7 T A 10: 30,565,849 (GRCm39) E599D possibly damaging Het
Nfasc A T 1: 132,538,104 (GRCm39) C495* probably null Het
Nfx1 G A 4: 41,018,019 (GRCm39) G920E probably damaging Het
Nlrp4g T G 9: 124,348,980 (GRCm38) noncoding transcript Het
Nup85 T A 11: 115,468,757 (GRCm39) V200E probably damaging Het
Or2z2 T A 11: 58,345,906 (GRCm39) I290F probably damaging Het
Or5an1c T C 19: 12,218,120 (GRCm39) M302V probably benign Het
Pask T C 1: 93,238,606 (GRCm39) Q1293R possibly damaging Het
Ppfia2 T A 10: 106,636,646 (GRCm39) S232T probably benign Het
Prr12 G A 7: 44,695,612 (GRCm39) R1285W unknown Het
Rimoc1 C T 15: 4,015,848 (GRCm39) V239I probably benign Het
Rxylt1 A T 10: 121,930,548 (GRCm39) D126E probably damaging Het
Slc1a1 T A 19: 28,880,153 (GRCm39) F278I possibly damaging Het
Sos1 G T 17: 80,705,719 (GRCm39) T1284N probably damaging Het
Sp2 T A 11: 96,847,036 (GRCm39) Q475L probably damaging Het
Spmip2 C A 3: 79,356,741 (GRCm39) probably benign Het
Spmip2 C A 3: 79,356,742 (GRCm39) probably benign Het
Sspo A T 6: 48,444,917 (GRCm39) T2134S possibly damaging Het
Tbx1 C A 16: 18,401,552 (GRCm39) A300S probably benign Het
Uap1 A C 1: 169,994,281 (GRCm39) V65G probably benign Het
Ubr2 G A 17: 47,278,123 (GRCm39) T738I probably benign Het
Uvrag A T 7: 98,758,297 (GRCm39) Y81* probably null Het
Vmn2r116 T G 17: 23,603,907 (GRCm39) I44S probably benign Het
Xkr8 A T 4: 132,455,688 (GRCm39) Y228* probably null Het
Zbtb20 A G 16: 43,430,025 (GRCm39) I106V possibly damaging Het
Zc3h7a C T 16: 10,964,259 (GRCm39) S683N probably benign Het
Zfp146 A T 7: 29,861,905 (GRCm39) C46S possibly damaging Het
Zfp871 T C 17: 32,994,662 (GRCm39) E152G possibly damaging Het
Zfp90 T C 8: 107,146,156 (GRCm39) V57A probably damaging Het
Zhx3 A T 2: 160,621,718 (GRCm39) N816K probably damaging Het
Other mutations in Hscb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02002:Hscb APN 5 110,978,820 (GRCm39) missense probably benign 0.00
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 2015-04-16