Incidental Mutation 'R6754:Hspb3'
ID 530967
Institutional Source Beutler Lab
Gene Symbol Hspb3
Ensembl Gene ENSMUSG00000051456
Gene Name heat shock protein 3
Synonyms 27kDa, spb3, 2310035K17Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.241) question?
Stock # R6754 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 113799432-113800212 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 113799688 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 114 (I114K)
Ref Sequence ENSEMBL: ENSMUSP00000054193 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054650]
AlphaFold Q9QZ57
Predicted Effect probably damaging
Transcript: ENSMUST00000054650
AA Change: I114K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000054193
Gene: ENSMUSG00000051456
AA Change: I114K

DomainStartEndE-ValueType
Pfam:HSP20 69 154 4.8e-17 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 98.9%
  • 20x: 97.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a muscle-specific small heat shock protein. A mutation in this gene is the cause of autosomal dominant distal hereditary motor neuropathy type 2C.[provided by RefSeq, Sep 2010]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg3 T C 17: 57,190,358 (GRCm39) F352L probably damaging Het
Acta2 T C 19: 34,222,383 (GRCm39) D246G probably damaging Het
Ank2 A G 3: 126,890,488 (GRCm39) probably benign Het
Bmpr2 T A 1: 59,909,439 (GRCm39) I971N probably damaging Het
C9 C A 15: 6,519,424 (GRCm39) C8* probably null Het
Casp2 T A 6: 42,246,264 (GRCm39) N207K probably damaging Het
Cd302 T G 2: 60,102,451 (GRCm39) D56A probably benign Het
Cecr2 C T 6: 120,734,539 (GRCm39) P605S probably damaging Het
Cep152 A G 2: 125,429,588 (GRCm39) V723A probably damaging Het
Col17a1 C T 19: 47,639,160 (GRCm39) probably null Het
Ctsk T C 3: 95,409,996 (GRCm39) V168A probably damaging Het
Cyp2c54 A T 19: 40,060,004 (GRCm39) N176K probably damaging Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
F5 A G 1: 164,021,332 (GRCm39) D1269G probably damaging Het
Fat3 C T 9: 15,826,357 (GRCm39) E4532K possibly damaging Het
Hivep2 G A 10: 14,005,382 (GRCm39) G660D probably benign Het
Irag1 G A 7: 110,528,719 (GRCm39) P43S probably damaging Het
Itgb7 T G 15: 102,124,595 (GRCm39) *807C probably null Het
Kbtbd2 A G 6: 56,756,239 (GRCm39) V499A probably damaging Het
Lemd3 A T 10: 120,769,565 (GRCm39) I589N probably damaging Het
Mettl13 T C 1: 162,375,692 (GRCm39) Y45C probably damaging Het
Mllt6 C T 11: 97,565,273 (GRCm39) T571I probably damaging Het
Nabp1 A G 1: 51,513,699 (GRCm39) I99T probably damaging Het
Ndufa4 A G 6: 11,906,052 (GRCm39) V33A probably benign Het
Nr1h5 A G 3: 102,856,913 (GRCm39) S200P probably damaging Het
Ntsr1 G A 2: 180,184,476 (GRCm39) R393H probably benign Het
Obi1 C T 14: 104,740,850 (GRCm39) E191K probably damaging Het
Or14j4 T C 17: 37,921,046 (GRCm39) N199D probably benign Het
Or4c116 G T 2: 88,942,640 (GRCm39) T72N possibly damaging Het
Pcdhb21 A T 18: 37,647,736 (GRCm39) K288N probably benign Het
Pla2g6 T C 15: 79,190,510 (GRCm39) N351D probably benign Het
Polg T C 7: 79,109,584 (GRCm39) E411G probably damaging Het
Prdm11 A G 2: 92,844,137 (GRCm39) L31P probably damaging Het
Rab27b G A 18: 70,129,174 (GRCm39) T40I probably damaging Het
Ruvbl2 T C 7: 45,078,182 (GRCm39) D97G probably benign Het
Saxo4 A T 19: 10,454,453 (GRCm39) Y328N probably damaging Het
Sema3a T C 5: 13,649,243 (GRCm39) V664A possibly damaging Het
Sh2d3c T C 2: 32,644,542 (GRCm39) S842P probably damaging Het
Spam1 A G 6: 24,796,315 (GRCm39) T89A probably damaging Het
Stab1 C T 14: 30,863,038 (GRCm39) G2187E probably benign Het
Tff2 C A 17: 31,363,207 (GRCm39) A6S probably benign Het
Trim80 T C 11: 115,339,000 (GRCm39) V610A probably damaging Het
Trp53bp1 A G 2: 121,101,057 (GRCm39) V47A possibly damaging Het
Ufl1 G A 4: 25,267,796 (GRCm39) Q292* probably null Het
Ulk1 A T 5: 110,938,259 (GRCm39) V571E possibly damaging Het
Usp24 A T 4: 106,217,617 (GRCm39) N447Y probably damaging Het
Vmn1r81 A T 7: 11,993,774 (GRCm39) I278K probably damaging Het
Other mutations in Hspb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1632:Hspb3 UTSW 13 113,799,589 (GRCm39) missense probably benign 0.00
R4133:Hspb3 UTSW 13 113,800,027 (GRCm39) start codon destroyed probably null 1.00
Predicted Primers PCR Primer
(F):5'- AGTTTAAGCATTCCCGGGG -3'
(R):5'- TACACTATACGCACTGCCCG -3'

Sequencing Primer
(F):5'- TTAAGCATTCCCGGGGTGTCC -3'
(R):5'- CCATCGAGGACCTGAGTAAAGC -3'
Posted On 2018-08-01