Incidental Mutation 'R6581:Dnajb7'
ID 523447
Institutional Source Beutler Lab
Gene Symbol Dnajb7
Ensembl Gene ENSMUSG00000047108
Gene Name DnaJ heat shock protein family (Hsp40) member B7
Synonyms 4933424H20Rik, mDj5
MMRRC Submission 044705-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6581 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 81291289-81292474 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 81292226 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 37 (E37V)
Ref Sequence ENSEMBL: ENSMUSP00000100712 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041609] [ENSMUST00000057236] [ENSMUST00000163754] [ENSMUST00000165258] [ENSMUST00000167799]
AlphaFold Q9QYI8
Predicted Effect probably benign
Transcript: ENSMUST00000041609
SMART Domains Protein: ENSMUSP00000038331
Gene: ENSMUSG00000022401

DomainStartEndE-ValueType
AMP_N 67 213 6.36e-54 SMART
Pfam:Peptidase_M24 253 366 1.8e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000057236
AA Change: E37V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000100712
Gene: ENSMUSG00000047108
AA Change: E37V

DomainStartEndE-ValueType
DnaJ 2 61 1.49e-30 SMART
low complexity region 123 141 N/A INTRINSIC
low complexity region 244 262 N/A INTRINSIC
low complexity region 288 312 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163296
Predicted Effect probably benign
Transcript: ENSMUST00000163754
SMART Domains Protein: ENSMUSP00000132822
Gene: ENSMUSG00000022401

DomainStartEndE-ValueType
AMP_N 67 213 6.36e-54 SMART
Pfam:Peptidase_M24 253 481 1.1e-57 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164144
Predicted Effect probably benign
Transcript: ENSMUST00000165258
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167799
SMART Domains Protein: ENSMUSP00000126038
Gene: ENSMUSG00000022401

DomainStartEndE-ValueType
AMP_N 67 203 6.87e-50 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166831
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this intronless gene belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain.[provided by RefSeq, Mar 2011]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh8a1 G A 10: 21,256,741 (GRCm39) V51M probably damaging Het
Cdh17 A T 4: 11,799,615 (GRCm39) I471F probably damaging Het
Dpy19l1 T A 9: 24,359,160 (GRCm39) I337F possibly damaging Het
Etv5 C T 16: 22,258,449 (GRCm39) probably benign Het
Gbp2b T A 3: 142,313,999 (GRCm39) Y426* probably null Het
Gm21103 A T 14: 17,484,809 (GRCm39) N78K probably damaging Het
Helz2 A G 2: 180,871,172 (GRCm39) V2755A probably damaging Het
Itga9 A T 9: 118,487,632 (GRCm39) E238D probably benign Het
Itgb8 A T 12: 119,126,950 (GRCm39) C736S probably benign Het
Luzp1 A G 4: 136,267,942 (GRCm39) E55G probably damaging Het
Mrtfa A G 15: 80,900,574 (GRCm39) L589P probably damaging Het
Ms4a4d G A 19: 11,532,204 (GRCm39) V117M probably damaging Het
Odad2 C T 18: 7,129,560 (GRCm39) V873I possibly damaging Het
Or2f1 T C 6: 42,721,013 (GRCm39) L14P probably damaging Het
Or3a1d A G 11: 74,238,032 (GRCm39) F126S probably damaging Het
Or52a5b T C 7: 103,417,428 (GRCm39) I59V probably benign Het
Prl7a1 A T 13: 27,817,612 (GRCm39) D217E probably damaging Het
Slc12a5 T C 2: 164,829,035 (GRCm39) F525S probably damaging Het
Smyd5 G A 6: 85,409,005 (GRCm39) D7N probably damaging Het
Spata18 G T 5: 73,826,859 (GRCm39) R152L probably benign Het
Thbd A G 2: 148,248,192 (GRCm39) S559P probably benign Het
Tiam2 CGGG CGGGG 17: 3,464,897 (GRCm39) probably null Het
Tnpo2 C A 8: 85,782,033 (GRCm39) P874Q probably damaging Het
Uchl4 A T 9: 64,143,075 (GRCm39) E185D possibly damaging Het
Vmn1r158 G A 7: 22,489,465 (GRCm39) T248I possibly damaging Het
Vmn1r5 T C 6: 56,962,366 (GRCm39) F14L probably benign Het
Yaf2 T C 15: 93,184,295 (GRCm39) T101A probably benign Het
Other mutations in Dnajb7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00736:Dnajb7 APN 15 81,291,774 (GRCm39) missense probably benign 0.01
IGL01505:Dnajb7 APN 15 81,291,692 (GRCm39) missense possibly damaging 0.46
R0116:Dnajb7 UTSW 15 81,291,555 (GRCm39) missense probably benign 0.00
R1460:Dnajb7 UTSW 15 81,291,888 (GRCm39) missense probably benign 0.00
R1517:Dnajb7 UTSW 15 81,291,657 (GRCm39) missense probably damaging 0.98
R5354:Dnajb7 UTSW 15 81,292,208 (GRCm39) missense probably damaging 1.00
R6053:Dnajb7 UTSW 15 81,291,500 (GRCm39) missense probably benign 0.04
R7407:Dnajb7 UTSW 15 81,291,827 (GRCm39) missense possibly damaging 0.92
R7665:Dnajb7 UTSW 15 81,291,620 (GRCm39) missense probably benign 0.00
R8158:Dnajb7 UTSW 15 81,291,600 (GRCm39) missense probably damaging 0.98
R9263:Dnajb7 UTSW 15 81,292,266 (GRCm39) missense probably benign 0.26
Predicted Primers PCR Primer
(F):5'- AATGAAAACGGATCCCTTTCAC -3'
(R):5'- CAACAGAGCCTGAGTTGCAAC -3'

Sequencing Primer
(F):5'- AAAGACATCGTCTGCCTTCCGG -3'
(R):5'- GCCTGAGTTGCAACGAAAAC -3'
Posted On 2018-06-22