Incidental Mutation 'R3011:Dnajc5b'
ID 257500
Institutional Source Beutler Lab
Gene Symbol Dnajc5b
Ensembl Gene ENSMUSG00000027606
Gene Name DnaJ heat shock protein family (Hsp40) member C5 beta
Synonyms 1700008A05Rik
MMRRC Submission 040533-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3011 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 19562759-19665026 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 19600966 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 21 (Y21F)
Ref Sequence ENSEMBL: ENSMUSP00000127515 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029132] [ENSMUST00000118735] [ENSMUST00000118968] [ENSMUST00000165693]
AlphaFold Q9CQ94
Predicted Effect probably damaging
Transcript: ENSMUST00000029132
AA Change: Y21F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029132
Gene: ENSMUSG00000027606
AA Change: Y21F

DomainStartEndE-ValueType
DnaJ 18 76 2.12e-26 SMART
transmembrane domain 112 134 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000118735
AA Change: Y21F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113414
Gene: ENSMUSG00000027606
AA Change: Y21F

DomainStartEndE-ValueType
DnaJ 18 76 2.12e-26 SMART
transmembrane domain 112 134 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000118968
AA Change: Y21F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112849
Gene: ENSMUSG00000027606
AA Change: Y21F

DomainStartEndE-ValueType
DnaJ 18 76 2.12e-26 SMART
transmembrane domain 112 134 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000165693
AA Change: Y21F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127515
Gene: ENSMUSG00000027606
AA Change: Y21F

DomainStartEndE-ValueType
DnaJ 18 76 2.12e-26 SMART
transmembrane domain 112 134 N/A INTRINSIC
Meta Mutation Damage Score 0.7963 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 100% (29/29)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the DNAJ heat shock protein 40 family of co-chaperone proteins that is characterized by an N-terminal DNAJ domain, a linker region, and a cysteine-rich C-terminal domain. The encoded protein, together with heat shock protein 70, is thought to regulate the proper folding of other proteins. The orthologous mouse protein is membrane-associated and is targeted to the trans-golgi network. [provided by RefSeq, Mar 2017]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap31 A C 16: 38,422,269 (GRCm39) C1266G possibly damaging Het
Brme1 C A 8: 84,893,539 (GRCm39) Y235* probably null Het
Cers5 A G 15: 99,670,598 (GRCm39) probably benign Het
Clasp2 C T 9: 113,730,581 (GRCm39) T905M probably damaging Het
Clec16a A G 16: 10,428,975 (GRCm39) N469S probably benign Het
Commd3 T A 2: 18,679,499 (GRCm39) V128D probably damaging Het
Cped1 A G 6: 22,088,695 (GRCm39) T253A probably damaging Het
Fhip2a T A 19: 57,373,720 (GRCm39) L660Q probably damaging Het
Gm14403 A G 2: 177,200,786 (GRCm39) D244G probably benign Het
Gm5414 T C 15: 101,534,047 (GRCm39) D312G probably damaging Het
Ifi204 T C 1: 173,579,217 (GRCm39) S543G probably benign Het
Itga11 T A 9: 62,604,262 (GRCm39) I50N probably damaging Het
Lct C T 1: 128,229,109 (GRCm39) V795I possibly damaging Het
Lrrc37 T A 11: 103,503,929 (GRCm39) T504S possibly damaging Het
Map2 A G 1: 66,453,771 (GRCm39) D887G probably damaging Het
Mgat4e T A 1: 134,469,846 (GRCm39) D66V possibly damaging Het
Nqo1 C T 8: 108,115,743 (GRCm39) R178H probably benign Het
Or13e8 G T 4: 43,696,624 (GRCm39) A183E probably damaging Het
Or5h22 A G 16: 58,895,350 (GRCm39) V31A probably benign Het
Otof G A 5: 30,540,184 (GRCm39) A999V probably damaging Het
Phf20 A G 2: 156,129,946 (GRCm39) D506G probably benign Het
Pth2r C T 1: 65,376,147 (GRCm39) H97Y probably benign Het
Snx18 G A 13: 113,753,422 (GRCm39) Q504* probably null Het
Sppl2c C T 11: 104,078,141 (GRCm39) P314S probably benign Het
Srgap2 T A 1: 131,238,329 (GRCm39) Q520L probably damaging Het
Tex11 C A X: 99,977,021 (GRCm39) A487S possibly damaging Het
Tlr4 A T 4: 66,757,491 (GRCm39) K95* probably null Het
Tmem59l A T 8: 70,938,887 (GRCm39) C96S probably damaging Het
Tmtc3 G T 10: 100,283,444 (GRCm39) P704T possibly damaging Het
Upp2 T C 2: 58,680,107 (GRCm39) V293A probably damaging Het
Vps72 A G 3: 95,026,585 (GRCm39) K177E probably damaging Het
Other mutations in Dnajc5b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1630:Dnajc5b UTSW 3 19,628,905 (GRCm39) missense probably damaging 1.00
R1714:Dnajc5b UTSW 3 19,633,265 (GRCm39) nonsense probably null
R3859:Dnajc5b UTSW 3 19,628,966 (GRCm39) nonsense probably null
R5268:Dnajc5b UTSW 3 19,633,224 (GRCm39) missense probably benign 0.00
R5281:Dnajc5b UTSW 3 19,664,724 (GRCm39) missense probably benign 0.37
R5337:Dnajc5b UTSW 3 19,628,946 (GRCm39) missense probably damaging 1.00
R5929:Dnajc5b UTSW 3 19,601,019 (GRCm39) missense probably damaging 1.00
R7081:Dnajc5b UTSW 3 19,601,025 (GRCm39) critical splice donor site probably null
R7770:Dnajc5b UTSW 3 19,633,181 (GRCm39) missense probably benign 0.19
R7782:Dnajc5b UTSW 3 19,629,006 (GRCm39) missense probably benign 0.01
R8369:Dnajc5b UTSW 3 19,664,796 (GRCm39) missense probably damaging 1.00
R8790:Dnajc5b UTSW 3 19,600,981 (GRCm39) missense probably damaging 1.00
R8905:Dnajc5b UTSW 3 19,633,184 (GRCm39) missense probably benign 0.00
R9527:Dnajc5b UTSW 3 19,633,248 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGAAAGCACTTTTAGCTCTTGG -3'
(R):5'- AATCAGATCACCTGGTCTTGG -3'

Sequencing Primer
(F):5'- CAAATGCTGGTCTTTTTAAACAGGTG -3'
(R):5'- ATCACCTGGTCTTGGTAAGAAGC -3'
Posted On 2015-01-11