Incidental Mutation 'R7407:Dnajb7'
ID 574813
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 045488-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7407 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 81291289-81292474 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 81291827 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 170 (T170K)
Ref Sequence ENSEMBL: ENSMUSP00000100712 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041609] [ENSMUST00000057236] [ENSMUST00000163754] [ENSMUST00000165258]
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 possibly damaging
Transcript: ENSMUST00000057236
AA Change: T170K

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000100712
Gene: ENSMUSG00000047108
AA Change: T170K

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 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 probably benign
Transcript: ENSMUST00000165258
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405O20Rik A G 7: 50,249,626 (GRCm39) N220S probably damaging Het
Abcb8 T C 5: 24,605,674 (GRCm39) V186A probably benign Het
Actbl2 A T 13: 111,392,752 (GRCm39) E362D probably damaging Het
Adamts17 C A 7: 66,697,304 (GRCm39) Y28* probably null Het
Agtr1b T C 3: 20,369,895 (GRCm39) D237G possibly damaging Het
Amer2 A G 14: 60,616,291 (GRCm39) D162G probably damaging Het
Ankub1 T C 3: 57,572,624 (GRCm39) E366G probably benign Het
Ap5z1 A G 5: 142,452,330 (GRCm39) I88V probably benign Het
Ccdc186 T C 19: 56,801,817 (GRCm39) N100S probably benign Het
Cldn19 A G 4: 119,112,882 (GRCm39) D38G probably damaging Het
Crat C T 2: 30,294,577 (GRCm39) R497Q probably benign Het
Deaf1 G A 7: 140,877,492 (GRCm39) A545V possibly damaging Het
Dicer1 G T 12: 104,688,610 (GRCm39) Y322* probably null Het
Flrt2 A T 12: 95,746,074 (GRCm39) E137D probably damaging Het
Galnt12 T C 4: 47,120,362 (GRCm39) F482L probably damaging Het
Gm32742 A G 9: 51,067,974 (GRCm39) V336A probably damaging Het
Gpatch8 G A 11: 102,370,656 (GRCm39) R961W unknown Het
Hcn4 A G 9: 58,766,653 (GRCm39) E738G unknown Het
Kdelr3 A G 15: 79,409,039 (GRCm39) Y76C probably damaging Het
Krt77 T C 15: 101,768,530 (GRCm39) S494G unknown Het
Letmd1 G T 15: 100,367,119 (GRCm39) A39S probably benign Het
Lrrc7 G A 3: 157,840,878 (GRCm39) R1387W probably damaging Het
Meltf T C 16: 31,713,553 (GRCm39) Y599H probably damaging Het
Mybpc1 T A 10: 88,385,209 (GRCm39) I477L probably damaging Het
Nf1 A G 11: 79,338,969 (GRCm39) D1174G probably damaging Het
Or2t6 T A 14: 14,175,402 (GRCm38) I227L probably benign Het
Or8b44 T A 9: 38,410,800 (GRCm39) Y278* probably null Het
Palld G T 8: 61,968,975 (GRCm39) S1283* probably null Het
Pcmtd2 T C 2: 181,488,398 (GRCm39) V183A possibly damaging Het
Pcsk5 T A 19: 17,652,880 (GRCm39) I269F probably damaging Het
Pkd1 T C 17: 24,813,568 (GRCm39) L4036P probably damaging Het
Pkhd1l1 A G 15: 44,458,407 (GRCm39) N4151S possibly damaging Het
Rcor3 C T 1: 191,785,972 (GRCm39) S422N probably benign Het
Rhag A G 17: 41,142,225 (GRCm39) I223V possibly damaging Het
Ssbp4 A G 8: 71,051,672 (GRCm39) Y231H probably damaging Het
Syce1l C T 8: 114,381,770 (GRCm39) Q237* probably null Het
Tenm4 T C 7: 96,423,194 (GRCm39) V663A possibly damaging Het
Timd6 A G 11: 46,468,217 (GRCm39) Y97C probably damaging Het
Trim6 T C 7: 103,875,108 (GRCm39) I115T probably damaging Het
Vinac1 A G 2: 128,880,729 (GRCm39) I399T Het
Vmn1r25 T A 6: 57,956,044 (GRCm39) T82S possibly damaging Het
Vmn2r28 A G 7: 5,484,308 (GRCm39) S631P probably damaging Het
Xpo1 T A 11: 23,235,823 (GRCm39) V637E probably damaging Het
Xpo6 A T 7: 125,770,224 (GRCm39) M62K probably damaging Het
Ypel5 A G 17: 73,153,374 (GRCm39) N26S possibly damaging Het
Zbtb24 C A 10: 41,340,775 (GRCm39) Q624K possibly damaging Het
Zfp629 T C 7: 127,209,415 (GRCm39) D798G probably benign Het
Zfp687 C T 3: 94,914,841 (GRCm39) R1220H probably damaging 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
R6581:Dnajb7 UTSW 15 81,292,226 (GRCm39) missense probably damaging 1.00
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'- AACGACTGTCTTCTCCAGTTAC -3'
(R):5'- AGGGATCCGTTTTCATTCCACC -3'

Sequencing Primer
(F):5'- CCAGTTACATTTGTCTGTAAAATGC -3'
(R):5'- ATCCGTTTTCATTCCACCTCTTTGAG -3'
Posted On 2019-10-07