Incidental Mutation 'IGL01505:Dnajb7'
ID89012
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnajb7
Ensembl Gene ENSMUSG00000047108
Gene NameDnaJ heat shock protein family (Hsp40) member B7
Synonyms4933424H20Rik, mDj5
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01505
Quality Score
Status
Chromosome15
Chromosomal Location81406926-81408299 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 81407491 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 215 (E215G)
Ref Sequence ENSEMBL: ENSMUSP00000100712 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041609] [ENSMUST00000057236] [ENSMUST00000163754] [ENSMUST00000165258] [ENSMUST00000167799]
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: E215G

PolyPhen 2 Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000100712
Gene: ENSMUSG00000047108
AA Change: E215G

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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930546C10Rik T C 18: 68,947,347 probably null Het
A2m A G 6: 121,676,947 N1413S possibly damaging Het
Arhgap45 A T 10: 80,026,542 N488Y probably benign Het
Arid4a G A 12: 71,037,115 D94N probably damaging Het
Atp7a A G X: 106,109,830 K1114E probably damaging Het
Atp8a2 C T 14: 60,028,063 V275M probably benign Het
Ceacam12 T C 7: 18,067,432 V112A probably damaging Het
Cep295 T A 9: 15,318,049 D2256V probably benign Het
Chid1 A T 7: 141,513,894 probably null Het
Clcn5 A T X: 7,170,439 L268* probably null Het
Cldn17 A G 16: 88,506,703 I46T possibly damaging Het
Cnot1 A T 8: 95,728,718 I2025N probably damaging Het
Cntn5 C T 9: 9,706,087 V574M probably damaging Het
Col14a1 T A 15: 55,455,223 C1373S unknown Het
Col9a1 A G 1: 24,185,124 N129S unknown Het
Cp C T 3: 19,977,192 P598S possibly damaging Het
Cpb1 G A 3: 20,266,246 R150C probably damaging Het
Cyp2j7 T A 4: 96,227,680 probably null Het
Dock1 G A 7: 135,158,510 R1634Q possibly damaging Het
Dopey2 A G 16: 93,757,116 T313A possibly damaging Het
Fgd2 T A 17: 29,366,997 V185E probably damaging Het
Flnb T C 14: 7,902,003 probably null Het
Fzd7 A G 1: 59,483,903 E315G probably benign Het
Gjc1 T A 11: 102,800,726 K150N probably benign Het
Gm436 C T 4: 144,674,618 V99M probably damaging Het
Gpihbp1 C T 15: 75,598,128 probably benign Het
Gpr160 T C 3: 30,895,853 S25P possibly damaging Het
Grsf1 G A 5: 88,672,749 R58* probably null Het
Ifit1 T A 19: 34,648,454 M330K probably benign Het
Igkv1-122 T C 6: 68,017,194 V22A probably benign Het
Ikbke A T 1: 131,255,311 D692E probably benign Het
Il15ra T C 2: 11,733,145 probably benign Het
Il18rap A G 1: 40,537,084 I252V probably damaging Het
Klra10 C T 6: 130,272,717 G202R probably damaging Het
Kpna7 A G 5: 144,992,851 V388A probably damaging Het
L2hgdh A G 12: 69,721,401 S108P probably damaging Het
Msto1 G A 3: 88,910,743 T388M probably benign Het
Naip1 T C 13: 100,425,933 E908G probably damaging Het
Neto1 C A 18: 86,473,689 D238E possibly damaging Het
Nlrp5 T A 7: 23,417,734 D294E probably benign Het
Nr3c2 T C 8: 76,909,187 S306P probably damaging Het
Olfr890 T A 9: 38,143,871 C240* probably null Het
Pard3 T A 8: 127,324,063 L202H probably damaging Het
Pdzd2 T C 15: 12,458,207 N190S probably damaging Het
Pi4ka T C 16: 17,309,358 D1077G probably benign Het
Pmfbp1 A C 8: 109,513,911 L208F probably damaging Het
Pms1 C T 1: 53,206,971 D470N probably benign Het
Prdm10 T C 9: 31,327,282 F108L probably benign Het
Rab11fip1 A T 8: 27,154,776 M327K possibly damaging Het
Slc37a4 T A 9: 44,399,964 L184Q probably damaging Het
Smdt1 T C 15: 82,347,893 probably benign Het
Smg6 A G 11: 75,156,291 Y1270C probably damaging Het
Speer4f2 T A 5: 17,376,567 V169E possibly damaging Het
Stpg2 C T 3: 139,317,453 A410V probably benign Het
Tnrc6b T A 15: 80,879,963 D555E probably benign Het
Tsg101 A G 7: 46,909,060 Y46H probably damaging Het
Vmn2r111 G A 17: 22,548,572 S648L probably benign Het
Vmn2r73 T A 7: 85,858,059 R682* probably null Het
Xkr5 A T 8: 18,933,498 I676N probably damaging Het
Other mutations in Dnajb7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00736:Dnajb7 APN 15 81407573 missense probably benign 0.01
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
Posted On2013-12-03