Incidental Mutation 'R5281:Dnajc5b'
ID402767
Institutional Source Beutler Lab
Gene Symbol Dnajc5b
Ensembl Gene ENSMUSG00000027606
Gene NameDnaJ heat shock protein family (Hsp40) member C5 beta
Synonyms
MMRRC Submission 042866-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R5281 (G1)
Quality Score225
Status Not validated
Chromosome3
Chromosomal Location19508595-19610862 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 19610560 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 174 (V174A)
Ref Sequence ENSEMBL: ENSMUSP00000127515 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029132] [ENSMUST00000118735] [ENSMUST00000118968] [ENSMUST00000119133] [ENSMUST00000165693]
Predicted Effect probably benign
Transcript: ENSMUST00000029132
AA Change: V174A

PolyPhen 2 Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000029132
Gene: ENSMUSG00000027606
AA Change: V174A

DomainStartEndE-ValueType
DnaJ 18 76 2.12e-26 SMART
transmembrane domain 112 134 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118735
AA Change: V174A

PolyPhen 2 Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000113414
Gene: ENSMUSG00000027606
AA Change: V174A

DomainStartEndE-ValueType
DnaJ 18 76 2.12e-26 SMART
transmembrane domain 112 134 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118968
AA Change: V174A

PolyPhen 2 Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000112849
Gene: ENSMUSG00000027606
AA Change: V174A

DomainStartEndE-ValueType
DnaJ 18 76 2.12e-26 SMART
transmembrane domain 112 134 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000119133
AA Change: T45A
Predicted Effect probably benign
Transcript: ENSMUST00000165693
AA Change: V174A

PolyPhen 2 Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000127515
Gene: ENSMUSG00000027606
AA Change: V174A

DomainStartEndE-ValueType
DnaJ 18 76 2.12e-26 SMART
transmembrane domain 112 134 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl3 A G 7: 82,528,934 H535R probably damaging Het
Aff4 A G 11: 53,372,288 E45G probably damaging Het
Ano10 A G 9: 122,261,486 S254P probably damaging Het
Arhgap21 T A 2: 20,849,316 E1745V probably damaging Het
Atp10b T C 11: 43,254,336 L1302P probably damaging Het
Btn2a2 A G 13: 23,478,832 V316A probably damaging Het
C2cd4c G A 10: 79,613,044 P90S probably benign Het
Cant1 A T 11: 118,408,870 W255R probably damaging Het
Cenpe A C 3: 135,230,150 K449Q possibly damaging Het
Col4a4 C T 1: 82,493,591 G681E unknown Het
Dmbt1 T C 7: 131,082,619 V615A probably damaging Het
Dst C A 1: 34,257,782 H5751N probably benign Het
Eif2d A G 1: 131,173,343 E562G probably damaging Het
Epha10 A T 4: 124,913,988 probably benign Het
Epha4 C T 1: 77,374,867 G917D probably benign Het
Fap C T 2: 62,532,961 probably null Het
Fsd2 T C 7: 81,552,985 E282G probably benign Het
Gls A T 1: 52,191,157 M136K probably damaging Het
Gm11595 G A 11: 99,772,555 R100C unknown Het
Gusb T C 5: 129,998,526 T313A probably benign Het
Ints7 T C 1: 191,615,771 Y752H possibly damaging Het
Krt17 G A 11: 100,260,701 Q89* probably null Het
Mfsd4b4 T C 10: 39,892,471 I209V probably benign Het
Nr0b2 A G 4: 133,556,024 I191V probably benign Het
Olfr609 T C 7: 103,491,973 I302V probably benign Het
Pcdhb21 T C 18: 37,513,935 M39T probably benign Het
Pds5b T G 5: 150,746,608 Y354D probably benign Het
She A G 3: 89,849,581 D314G probably benign Het
Shpk T C 11: 73,215,120 M266T probably benign Het
Skint8 C A 4: 111,950,193 L359M probably damaging Het
Slfn4 T G 11: 83,187,199 V271G probably damaging Het
Slitrk6 C T 14: 110,750,373 R634H probably damaging Het
Trrap T C 5: 144,813,503 F1555L probably benign Het
Vldlr A C 19: 27,244,231 E665D probably benign Het
Whrn T C 4: 63,418,427 T633A probably benign Het
Xylt2 A G 11: 94,668,790 V342A probably benign Het
Zfp800 A T 6: 28,243,166 V600E probably benign Het
Other mutations in Dnajc5b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1630:Dnajc5b UTSW 3 19574741 missense probably damaging 1.00
R1714:Dnajc5b UTSW 3 19579101 nonsense probably null
R3011:Dnajc5b UTSW 3 19546802 missense probably damaging 1.00
R3859:Dnajc5b UTSW 3 19574802 nonsense probably null
R5268:Dnajc5b UTSW 3 19579060 missense probably benign 0.00
R5337:Dnajc5b UTSW 3 19574782 missense probably damaging 1.00
R5929:Dnajc5b UTSW 3 19546855 missense probably damaging 1.00
R7081:Dnajc5b UTSW 3 19546861 critical splice donor site probably null
R7770:Dnajc5b UTSW 3 19579017 missense probably benign 0.19
R7782:Dnajc5b UTSW 3 19574842 missense probably benign 0.01
R8369:Dnajc5b UTSW 3 19610632 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAGGACTCATCATCCATAGAGATGATC -3'
(R):5'- TCACAGCATTTCATGTTTGCAC -3'

Sequencing Primer
(F):5'- GTTTTCATGGAAAATGGAACCCC -3'
(R):5'- ATGTTTGCACTTCCCCGATGAC -3'
Posted On2016-07-22