Incidental Mutation 'R7770:Dnajc5b'
ID 598514
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 045826-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7770 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 19562759-19665026 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 19633181 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 135 (C135S)
Ref Sequence ENSEMBL: ENSMUSP00000029132 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029132] [ENSMUST00000118735] [ENSMUST00000118968] [ENSMUST00000165693]
AlphaFold Q9CQ94
Predicted Effect probably benign
Transcript: ENSMUST00000029132
AA Change: C135S

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000029132
Gene: ENSMUSG00000027606
AA Change: C135S

DomainStartEndE-ValueType
DnaJ 18 76 2.12e-26 SMART
transmembrane domain 112 134 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118735
AA Change: C135S

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000113414
Gene: ENSMUSG00000027606
AA Change: C135S

DomainStartEndE-ValueType
DnaJ 18 76 2.12e-26 SMART
transmembrane domain 112 134 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118968
AA Change: C135S

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000112849
Gene: ENSMUSG00000027606
AA Change: C135S

DomainStartEndE-ValueType
DnaJ 18 76 2.12e-26 SMART
transmembrane domain 112 134 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000165693
AA Change: C135S

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000127515
Gene: ENSMUSG00000027606
AA Change: C135S

DomainStartEndE-ValueType
DnaJ 18 76 2.12e-26 SMART
transmembrane domain 112 134 N/A INTRINSIC
Meta Mutation Damage Score 0.1388 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 98% (55/56)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A T 9: 57,165,894 (GRCm39) V160E probably damaging Het
Abhd8 C T 8: 71,910,894 (GRCm39) G305S probably benign Het
Adamts20 A G 15: 94,231,579 (GRCm39) V870A probably benign Het
Agl A G 3: 116,551,886 (GRCm39) probably null Het
Cav3 A T 6: 112,449,147 (GRCm39) D55V probably damaging Het
Ccser2 T A 14: 36,648,831 (GRCm39) D556V probably damaging Het
Cdc20b T C 13: 113,215,193 (GRCm39) Y254H probably benign Het
Commd8 A G 5: 72,317,223 (GRCm39) L182S probably damaging Het
Cyp1b1 G A 17: 80,020,728 (GRCm39) A338V probably damaging Het
Def8 C A 8: 124,186,798 (GRCm39) D459E unknown Het
Dennd5b T C 6: 148,943,214 (GRCm39) Y554C probably damaging Het
Dnah7c A T 1: 46,665,460 (GRCm39) probably null Het
Dnpep G A 1: 75,293,890 (GRCm39) probably benign Het
Drc1 C T 5: 30,507,856 (GRCm39) Q293* probably null Het
Glmp A G 3: 88,233,077 (GRCm39) S72G probably benign Het
Gm5431 A T 11: 48,779,285 (GRCm39) S546T probably benign Het
Gnptab T A 10: 88,247,782 (GRCm39) C70S probably benign Het
Gpr83 G A 9: 14,778,170 (GRCm39) R180Q probably damaging Het
Gucy1a1 A T 3: 82,016,112 (GRCm39) L292Q possibly damaging Het
Gzmd T C 14: 56,368,720 (GRCm39) D58G probably damaging Het
Hoxa10 A G 6: 52,211,245 (GRCm39) S224P possibly damaging Het
Hoxa13 G A 6: 52,237,247 (GRCm39) probably benign Het
Igsf6 A G 7: 120,667,548 (GRCm39) V156A probably benign Het
Il6st A T 13: 112,639,338 (GRCm39) I649F probably damaging Het
Kcnh3 G A 15: 99,131,147 (GRCm39) V507M probably damaging Het
Lgr5 A G 10: 115,307,899 (GRCm39) I253T probably damaging Het
Met T A 6: 17,491,406 (GRCm39) V56D possibly damaging Het
Mettl22 A T 16: 8,303,764 (GRCm39) I277F possibly damaging Het
Nadsyn1 G A 7: 143,359,740 (GRCm39) R411W probably damaging Het
Nrros T G 16: 31,962,346 (GRCm39) E557A probably benign Het
Or10ak14 A T 4: 118,611,254 (GRCm39) H162Q probably benign Het
Or5w1 T C 2: 87,486,813 (GRCm39) I151V not run Het
Or8j3b C T 2: 86,205,604 (GRCm39) V51M possibly damaging Het
Pih1d2 G A 9: 50,533,101 (GRCm39) R243Q not run Het
Polr1b C A 2: 128,967,464 (GRCm39) F952L probably damaging Het
Ppp1r3a A G 6: 14,754,977 (GRCm39) V90A probably benign Het
Prmt9 T A 8: 78,285,814 (GRCm39) probably null Het
Rapgef4 T A 2: 72,028,739 (GRCm39) N385K possibly damaging Het
Rbm28 G A 6: 29,164,627 (GRCm39) probably benign Het
Rhobtb3 A T 13: 76,065,934 (GRCm39) S150T probably damaging Het
Serpinb6b T C 13: 33,161,512 (GRCm39) V195A probably benign Het
Sesn1 T A 10: 41,770,054 (GRCm39) I99N probably damaging Het
Setd1b G A 5: 123,296,815 (GRCm39) probably benign Het
Slc22a19 T A 19: 7,681,360 (GRCm39) probably null Het
Slc9a4 T C 1: 40,640,123 (GRCm39) I305T probably damaging Het
Smg6 T A 11: 74,884,687 (GRCm39) N3K unknown Het
Spta1 C A 1: 174,023,547 (GRCm39) Y651* probably null Het
Tatdn3 G A 1: 190,791,053 (GRCm39) P74S probably benign Het
Tet2 C T 3: 133,186,056 (GRCm39) R1127Q possibly damaging Het
Tgfbi T A 13: 56,780,657 (GRCm39) probably null Het
Tmprss9 A G 10: 80,733,903 (GRCm39) probably null Het
Tox4 T C 14: 52,517,299 (GRCm39) Y10H probably damaging Het
Trappc10 A T 10: 78,046,679 (GRCm39) S407T probably damaging Het
Vmn2r59 A G 7: 41,708,336 (GRCm39) C24R probably damaging Het
Wdr24 C A 17: 26,046,070 (GRCm39) A465D probably benign Het
Wfdc8 A G 2: 164,439,594 (GRCm39) S263P unknown Het
Zc3h15 T A 2: 83,488,476 (GRCm39) I138N possibly 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
R3011:Dnajc5b UTSW 3 19,600,966 (GRCm39) missense probably damaging 1.00
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
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'- AGGGGATGTTGGGTATCATTAATCC -3'
(R):5'- CTGCCCACAAAAGCTGGTAG -3'

Sequencing Primer
(F):5'- ATCCTATGAGGTATACACTTACAGAC -3'
(R):5'- CCCACAAAAGCTGGTAGTCTGG -3'
Posted On 2019-11-26