Incidental Mutation 'R5883:Hscb'
ID 454516
Institutional Source Beutler Lab
Gene Symbol Hscb
Ensembl Gene ENSMUSG00000043510
Gene Name HscB iron-sulfur cluster co-chaperone
Synonyms
MMRRC Submission 044086-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R5883 (G1)
Quality Score 91
Status Validated
Chromosome 5
Chromosomal Location 110976936-110987643 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 110987444 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 51 (C51R)
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 benign
Transcript: ENSMUST00000056937
AA Change: C51R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000062811
Gene: ENSMUSG00000043510
AA Change: C51R

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 noncoding transcript
Transcript: ENSMUST00000200630
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 probably benign
Transcript: ENSMUST00000200172
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 95.9%
  • 20x: 83.7%
Validation Efficiency 100% (70/70)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430548M08Rik G A 8: 120,872,380 (GRCm39) V103I possibly damaging Het
Aass G A 6: 23,072,993 (GRCm39) T920I probably benign Het
Akirin2 A G 4: 34,565,256 (GRCm39) I168V possibly damaging Het
Ambn T A 5: 88,615,688 (GRCm39) Y372* probably null Het
Ano3 T A 2: 110,711,209 (GRCm39) E85V probably null Het
Bmf C T 2: 118,377,447 (GRCm39) silent Het
Bmper T A 9: 23,317,970 (GRCm39) S530T probably benign Het
Bop1 T C 15: 76,339,049 (GRCm39) D383G probably damaging Het
Bub1b T A 2: 118,440,363 (GRCm39) Y156N probably damaging Het
Cacna1h A G 17: 25,595,896 (GRCm39) V1987A probably benign Het
Cd84 T C 1: 171,700,405 (GRCm39) V174A possibly damaging Het
Cep290 T A 10: 100,359,261 (GRCm39) L997Q probably benign Het
Chil4 C T 3: 106,117,886 (GRCm39) R128H possibly damaging Het
Cpne3 A T 4: 19,552,314 (GRCm39) V106D possibly damaging Het
D6Wsu163e A G 6: 126,943,879 (GRCm39) E425G probably damaging Het
Dlgap1 A T 17: 70,824,008 (GRCm39) probably benign Het
Dnhd1 C A 7: 105,369,711 (GRCm39) H4379N probably damaging Het
Gm10309 A G 17: 86,806,185 (GRCm39) probably benign Het
Gm6264 G A 1: 85,148,903 (GRCm39) probably benign Het
Has2 T A 15: 56,531,459 (GRCm39) I419F possibly damaging Het
Ighv1-61 T C 12: 115,323,183 (GRCm39) S4G probably benign Het
Islr2 G T 9: 58,105,998 (GRCm39) Q465K probably benign Het
Jakmip2 T C 18: 43,715,059 (GRCm39) I156V possibly damaging Het
Klk1b24 A G 7: 43,839,787 (GRCm39) I49V probably benign Het
Krt90 C T 15: 101,461,654 (GRCm39) probably benign Het
Larp1 C T 11: 57,933,125 (GRCm39) S243F probably damaging Het
Lrp4 T C 2: 91,318,778 (GRCm39) Y872H probably benign Het
Maip1 T C 1: 57,446,260 (GRCm39) M110T probably damaging Het
Marchf7 G A 2: 60,064,786 (GRCm39) R354Q probably damaging Het
Med12l G T 3: 58,998,889 (GRCm39) E605D probably damaging Het
Nt5c1a T A 4: 123,110,049 (GRCm39) probably null Het
Or2j6 T A 7: 139,980,101 (GRCm39) Y286F probably damaging Het
Or5ac25 A T 16: 59,182,078 (GRCm39) C168S probably damaging Het
Or5p66 C T 7: 107,885,451 (GRCm39) S294N probably damaging Het
Pdzd9 T A 7: 120,267,776 (GRCm39) E13V possibly damaging Het
Ppip5k2 C T 1: 97,635,535 (GRCm39) A1100T possibly damaging Het
Prkdc C A 16: 15,533,778 (GRCm39) Q1539K probably benign Het
Rad54l C G 4: 115,956,243 (GRCm39) probably benign Het
Ric1 T A 19: 29,573,389 (GRCm39) I943N probably damaging Het
Rif1 T A 2: 51,995,651 (GRCm39) probably null Het
Rpl12 T C 2: 32,852,536 (GRCm39) probably benign Het
Ryr3 T C 2: 112,860,637 (GRCm39) probably benign Het
Scarb1 C A 5: 125,417,971 (GRCm39) probably benign Het
Sox10 T C 15: 79,040,463 (GRCm39) E359G probably damaging Het
Taf5 A G 19: 47,056,228 (GRCm39) T9A unknown Het
Tmem128 C T 5: 38,423,885 (GRCm39) A33V possibly damaging Het
Tox A C 4: 6,697,444 (GRCm39) V453G probably benign Het
Ubxn4 T A 1: 128,183,867 (GRCm39) C76S probably damaging Het
Vmn2r100 A T 17: 19,743,786 (GRCm39) Y483F probably benign Het
Xkr5 A G 8: 18,990,806 (GRCm39) S154P probably damaging Het
Zfp687 T C 3: 94,919,355 (GRCm39) N139S probably benign Het
Other mutations in Hscb
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 PCR Primer
(F):5'- AGGTACTACTTATACCTATGGCCTAC -3'
(R):5'- TTGCTACCTAGGTCAGCGAG -3'

Sequencing Primer
(F):5'- GAATCAGTCTCGGCAAATTGC -3'
(R):5'- TAGGTCAGCGAGCGGCC -3'
Posted On 2017-02-10