Incidental Mutation 'R7782:Dnajc5b'
ID 599280
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 045838-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7782 (G1)
Quality Score 81.0075
Status Not validated
Chromosome 3
Chromosomal Location 19562759-19665026 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 19629006 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 100 (N100S)
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: N100S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000029132
Gene: ENSMUSG00000027606
AA Change: N100S

DomainStartEndE-ValueType
DnaJ 18 76 2.12e-26 SMART
transmembrane domain 112 134 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118735
AA Change: N100S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000113414
Gene: ENSMUSG00000027606
AA Change: N100S

DomainStartEndE-ValueType
DnaJ 18 76 2.12e-26 SMART
transmembrane domain 112 134 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118968
AA Change: N100S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000112849
Gene: ENSMUSG00000027606
AA Change: N100S

DomainStartEndE-ValueType
DnaJ 18 76 2.12e-26 SMART
transmembrane domain 112 134 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000165693
AA Change: N100S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000127515
Gene: ENSMUSG00000027606
AA Change: N100S

DomainStartEndE-ValueType
DnaJ 18 76 2.12e-26 SMART
transmembrane domain 112 134 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (80/80)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933415A04Rik GTGTGTGTATGTGTGT GTGTGTGT 11: 43,478,239 (GRCm39) probably null Het
Adamts16 A G 13: 70,984,265 (GRCm39) S133P probably damaging Het
Adamts17 T C 7: 66,774,802 (GRCm39) W1001R probably damaging Het
Aox4 T A 1: 58,270,251 (GRCm39) probably null Het
B4galnt4 C T 7: 140,644,988 (GRCm39) P221S probably damaging Het
BC005537 C T 13: 24,987,382 (GRCm39) R7W possibly damaging Het
BC034090 T C 1: 155,108,410 (GRCm39) probably benign Het
Best2 T A 8: 85,736,143 (GRCm39) D312V probably damaging Het
Bod1l A T 5: 41,975,286 (GRCm39) D2009E probably benign Het
Ccdc158 A C 5: 92,793,373 (GRCm39) S672A probably benign Het
Ccdc43 A T 11: 102,588,443 (GRCm39) L31Q probably damaging Het
Cdcp3 G A 7: 130,904,466 (GRCm39) probably null Het
Chaf1a T G 17: 56,369,291 (GRCm39) H507Q probably benign Het
Clptm1l A G 13: 73,752,439 (GRCm39) Y28C probably damaging Het
Cp G A 3: 20,029,223 (GRCm39) probably null Het
Crocc C T 4: 140,752,597 (GRCm39) A1432T probably benign Het
Crybg2 A G 4: 133,801,137 (GRCm39) T457A probably benign Het
Csnk2a1-ps3 C T 1: 156,352,552 (GRCm39) T251I probably damaging Het
Dennd4a A G 9: 64,814,202 (GRCm39) D1473G probably damaging Het
Diaph3 A G 14: 87,274,940 (GRCm39) F172S probably benign Het
Dusp13b G A 14: 21,791,404 (GRCm39) T16I possibly damaging Het
Epb42 T G 2: 120,864,916 (GRCm39) K58N probably benign Het
Fat1 A G 8: 45,403,948 (GRCm39) Y233C probably damaging Het
Fcgbp T A 7: 27,784,460 (GRCm39) Y173* probably null Het
Fign T A 2: 63,809,506 (GRCm39) D588V probably damaging Het
Fignl2 C T 15: 100,951,188 (GRCm39) V365M unknown Het
Fnip2 A C 3: 79,415,430 (GRCm39) Y203D probably benign Het
Ftsj3 CCTTCTTCTTCTTCTTCT CCTTCTTCTTCTTCT 11: 106,143,377 (GRCm39) probably benign Het
Gfral C A 9: 76,100,572 (GRCm39) V289L probably benign Het
H2bc21 T A 3: 96,128,487 (GRCm39) probably null Het
Heatr5b G T 17: 79,103,370 (GRCm39) T1161K probably damaging Het
Hectd4 A T 5: 121,443,784 (GRCm39) I1335F possibly damaging Het
Htt T A 5: 35,040,336 (GRCm39) V2166D probably benign Het
Ipo5 G C 14: 121,170,537 (GRCm39) K436N possibly damaging Het
Iqca1l A G 5: 24,749,224 (GRCm39) L758P probably damaging Het
Itga6 A G 2: 71,671,879 (GRCm39) E794G probably damaging Het
Itga9 G A 9: 118,672,712 (GRCm39) C148Y Het
Kcnip2 A C 19: 45,785,524 (GRCm39) probably null Het
Kcnk6 T C 7: 28,925,269 (GRCm39) T116A possibly damaging Het
Kctd21 A G 7: 96,997,297 (GRCm39) I257V probably benign Het
Kif19a G A 11: 114,672,748 (GRCm39) R299Q probably damaging Het
Kifc2 G A 15: 76,548,328 (GRCm39) G391R probably benign Het
Klrg2 A G 6: 38,604,562 (GRCm39) V381A possibly damaging Het
Mob1b A G 5: 88,897,542 (GRCm39) probably null Het
Or13p8 T C 4: 118,584,106 (GRCm39) Y221H probably damaging Het
Or6c69 T G 10: 129,747,392 (GRCm39) S252R probably damaging Het
Or6c75 T C 10: 129,337,020 (GRCm39) V81A probably benign Het
Or7c70 T C 10: 78,683,447 (GRCm39) I101V probably benign Het
Oxsm C A 14: 16,240,925 (GRCm38) A375S possibly damaging Het
Pcdha3 T C 18: 37,081,193 (GRCm39) V645A probably damaging Het
Pcdhb15 T A 18: 37,607,788 (GRCm39) V340E possibly damaging Het
Pced1a G A 2: 130,264,435 (GRCm39) P132S probably damaging Het
Pla2r1 C T 2: 60,334,531 (GRCm39) V414M probably benign Het
Plekhg4 A C 8: 106,104,399 (GRCm39) I493L probably benign Het
Plekhj1 T A 10: 80,634,179 (GRCm39) probably benign Het
Pmfbp1 G T 8: 110,254,412 (GRCm39) K482N probably damaging Het
Ppil3 T C 1: 58,473,574 (GRCm39) N92S probably benign Het
Ppt2 A G 17: 34,844,686 (GRCm39) S156P probably benign Het
Prss41 A T 17: 24,056,087 (GRCm39) D255E probably benign Het
Psg25 T A 7: 18,255,227 (GRCm39) M430L probably benign Het
Rffl A T 11: 82,703,595 (GRCm39) C109* probably null Het
Rock2 A G 12: 17,021,111 (GRCm39) E991G probably benign Het
Rpap2 A G 5: 107,768,058 (GRCm39) I299V probably benign Het
Rras T C 7: 44,670,529 (GRCm39) S158P probably benign Het
Serpinb10 G A 1: 107,463,196 (GRCm39) probably benign Het
Smyd3 A T 1: 178,799,859 (GRCm39) I360N possibly damaging Het
Synm A G 7: 67,384,714 (GRCm39) S541P probably damaging Het
Tasor A G 14: 27,193,901 (GRCm39) T1034A probably benign Het
Tbc1d31 C A 15: 57,821,764 (GRCm39) T813K possibly damaging Het
Trav7n-4 A G 14: 53,329,103 (GRCm39) M38V probably benign Het
Tulp3 A C 6: 128,301,943 (GRCm39) N359K possibly damaging Het
Twf1 T C 15: 94,480,654 (GRCm39) K196E probably benign Het
Usp24 A T 4: 106,173,771 (GRCm39) N35Y probably damaging Het
Usp46 T A 5: 74,162,772 (GRCm39) E342D probably benign Het
Vps50 T A 6: 3,532,202 (GRCm39) probably null Het
Vps8 T A 16: 21,330,308 (GRCm39) I727N possibly damaging Het
Wdr90 C T 17: 26,065,300 (GRCm39) R1652Q probably damaging Het
Zfp11 A T 5: 129,734,027 (GRCm39) V478E possibly damaging Het
Zfp493 A G 13: 67,935,123 (GRCm39) K359E probably benign Het
Zfp536 T C 7: 37,268,126 (GRCm39) Y430C probably damaging Het
Zfpm1 A G 8: 123,063,689 (GRCm39) D916G unknown 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
R7770:Dnajc5b UTSW 3 19,633,181 (GRCm39) missense probably benign 0.19
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'- TAGGGAGCTAATACTTTTCTCCTTG -3'
(R):5'- GCTTTCAGAGGAAGCGATGTC -3'

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