Incidental Mutation 'IGL00736:Dnajb7'
ID 10242
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnajb7
Ensembl Gene ENSMUSG00000047108
Gene Name DnaJ heat shock protein family (Hsp40) member B7
Synonyms 4933424H20Rik, mDj5
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00736
Quality Score
Status
Chromosome 15
Chromosomal Location 81406926-81408299 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 81407573 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 188 (I188F)
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 benign
Transcript: ENSMUST00000057236
AA Change: I188F

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000100712
Gene: ENSMUSG00000047108
AA Change: I188F

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: ENSMUST00000166831
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167799
SMART Domains Protein: ENSMUSP00000126038
Gene: ENSMUSG00000022401

DomainStartEndE-ValueType
AMP_N 67 203 6.87e-50 SMART
Coding Region Coverage
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: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb1 A G 10: 77,322,490 L41P probably damaging Het
Baz1b A G 5: 135,240,032 Y1245C probably damaging Het
Dpf1 A T 7: 29,312,908 K18* probably null Het
Drosha T A 15: 12,833,959 Y50N unknown Het
Eif2s1 T A 12: 78,884,837 probably benign Het
Gde1 T C 7: 118,698,702 E97G probably damaging Het
Lrrc8c G A 5: 105,607,114 V252M probably damaging Het
Megf10 G A 18: 57,292,710 R1056Q probably benign Het
Myo3b A C 2: 70,105,645 probably benign Het
Ralbp1 T C 17: 65,864,723 Y85C probably damaging Het
Serpini2 C T 3: 75,267,809 M58I possibly damaging Het
Skor1 C A 9: 63,139,538 Q892H probably damaging Het
Slc22a26 T C 19: 7,790,162 Q292R possibly damaging Het
Smc1b T C 15: 85,129,700 E90G possibly damaging Het
Zmym2 T C 14: 56,903,211 V169A probably benign Het
Other mutations in Dnajb7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01505:Dnajb7 APN 15 81407491 missense possibly damaging 0.46
R0116:Dnajb7 UTSW 15 81407354 missense probably benign 0.00
R1460:Dnajb7 UTSW 15 81407687 missense probably benign 0.00
R1517:Dnajb7 UTSW 15 81407456 missense probably damaging 0.98
R5354:Dnajb7 UTSW 15 81408007 missense probably damaging 1.00
R6053:Dnajb7 UTSW 15 81407299 missense probably benign 0.04
R6581:Dnajb7 UTSW 15 81408025 missense probably damaging 1.00
R7407:Dnajb7 UTSW 15 81407626 missense possibly damaging 0.92
R7665:Dnajb7 UTSW 15 81407419 missense probably benign 0.00
R8158:Dnajb7 UTSW 15 81407399 missense probably damaging 0.98
R9263:Dnajb7 UTSW 15 81408065 missense probably benign 0.26
Posted On 2012-12-06