Incidental Mutation 'IGL02977:Dnaja4'
ID406437
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnaja4
Ensembl Gene ENSMUSG00000032285
Gene NameDnaJ heat shock protein family (Hsp40) member A4
Synonyms1110021L12Rik, Hsj4, Dj4
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02977
Quality Score
Status
Chromosome9
Chromosomal Location54698873-54716315 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 54714510 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 343 (L343P)
Ref Sequence ENSEMBL: ENSMUSP00000112520 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051822] [ENSMUST00000070070] [ENSMUST00000118771] [ENSMUST00000120452] [ENSMUST00000121204] [ENSMUST00000130368]
Predicted Effect probably benign
Transcript: ENSMUST00000051822
SMART Domains Protein: ENSMUSP00000056359
Gene: ENSMUSG00000061559

DomainStartEndE-ValueType
WD40 2 48 1.27e-1 SMART
WD40 53 92 7.62e-5 SMART
WD40 95 134 3.99e-1 SMART
WD40 137 176 7.73e-6 SMART
WD40 179 218 3.21e-12 SMART
WD40 221 260 8.81e-10 SMART
WD40 263 302 1.49e-7 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000070070
AA Change: L343P

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000070413
Gene: ENSMUSG00000032285
AA Change: L343P

DomainStartEndE-ValueType
DnaJ 5 60 1.41e-31 SMART
low complexity region 75 85 N/A INTRINSIC
low complexity region 94 105 N/A INTRINSIC
Pfam:DnaJ_CXXCXGXG 135 201 2.1e-15 PFAM
Pfam:CTDII 258 340 4.1e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118771
SMART Domains Protein: ENSMUSP00000112811
Gene: ENSMUSG00000061559

DomainStartEndE-ValueType
WD40 2 48 1.27e-1 SMART
WD40 53 92 7.62e-5 SMART
WD40 95 134 3.99e-1 SMART
WD40 137 176 7.73e-6 SMART
WD40 179 218 3.21e-12 SMART
WD40 221 260 8.81e-10 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000120452
AA Change: L343P

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000112520
Gene: ENSMUSG00000032285
AA Change: L343P

DomainStartEndE-ValueType
DnaJ 5 60 1.41e-31 SMART
low complexity region 75 85 N/A INTRINSIC
low complexity region 94 105 N/A INTRINSIC
Pfam:DnaJ_C 108 330 9.7e-35 PFAM
Pfam:DnaJ_CXXCXGXG 135 201 1.5e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121204
SMART Domains Protein: ENSMUSP00000113560
Gene: ENSMUSG00000061559

DomainStartEndE-ValueType
WD40 2 48 1.27e-1 SMART
WD40 53 92 7.62e-5 SMART
WD40 95 134 3.99e-1 SMART
WD40 137 176 7.73e-6 SMART
WD40 179 218 3.21e-12 SMART
WD40 221 260 8.81e-10 SMART
WD40 263 302 1.49e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000130368
SMART Domains Protein: ENSMUSP00000123077
Gene: ENSMUSG00000061559

DomainStartEndE-ValueType
WD40 5 36 5.3e1 SMART
WD40 39 78 7.73e-6 SMART
WD40 81 120 3.21e-12 SMART
WD40 123 162 8.81e-10 SMART
WD40 165 204 1.49e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144365
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810004N23Rik C T 8: 124,861,191 V57M probably benign Het
4933440M02Rik T A 7: 125,331,702 noncoding transcript Het
9530053A07Rik C T 7: 28,164,372 T2523M possibly damaging Het
Bmp5 A G 9: 75,893,799 T404A probably damaging Het
Cep192 T C 18: 67,852,905 V1660A probably damaging Het
Csmd2 C A 4: 128,493,276 Y2121* probably null Het
Daam1 G A 12: 71,944,172 A187T unknown Het
Dym T C 18: 75,063,175 probably null Het
F5 A T 1: 164,194,021 D1355V probably damaging Het
Gcnt1 A T 19: 17,329,374 I329N probably damaging Het
Gm10110 T C 14: 89,897,332 noncoding transcript Het
Hdgfl2 A G 17: 56,099,319 N569S possibly damaging Het
Hivep1 T C 13: 42,155,936 S551P possibly damaging Het
Hpse2 G A 19: 42,789,122 probably benign Het
Hspe1 T C 1: 55,091,073 Y88H probably benign Het
Ifi44 A T 3: 151,739,379 M312K probably benign Het
Lrp1b T G 2: 40,730,735 D3577A probably damaging Het
Mapk13 G T 17: 28,776,348 G181V probably damaging Het
Olfr1164 T C 2: 88,093,571 I122V probably benign Het
Olfr464 A G 11: 87,914,130 S259P possibly damaging Het
Oprl1 G T 2: 181,718,511 C115F probably damaging Het
Psg22 A G 7: 18,719,599 D112G probably benign Het
Rp1l1 T A 14: 64,028,150 I395N probably benign Het
Simc1 T C 13: 54,526,307 S823P probably benign Het
Slc9b1 T C 3: 135,397,723 L538P probably damaging Het
Smad2 T A 18: 76,289,164 Y216N possibly damaging Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Tonsl T A 15: 76,632,873 Q882L probably benign Het
Trav13-2 C T 14: 53,635,307 T80I probably damaging Het
Uaca C T 9: 60,866,380 P388S probably benign Het
Vmn2r116 A G 17: 23,388,774 R439G possibly damaging Het
Vmn2r18 C A 5: 151,586,684 A75S probably damaging Het
Other mutations in Dnaja4
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4305001:Dnaja4 UTSW 9 54710634 missense probably benign 0.01
R2139:Dnaja4 UTSW 9 54709222 missense probably benign 0.01
R4837:Dnaja4 UTSW 9 54710644 missense probably benign 0.00
R5087:Dnaja4 UTSW 9 54699739 missense probably damaging 0.99
R5862:Dnaja4 UTSW 9 54699341 unclassified probably benign
R6722:Dnaja4 UTSW 9 54699754 missense probably damaging 0.99
R6985:Dnaja4 UTSW 9 54708395 missense probably benign 0.06
R7165:Dnaja4 UTSW 9 54709232 missense probably damaging 1.00
R7228:Dnaja4 UTSW 9 54714285 missense possibly damaging 0.88
R7762:Dnaja4 UTSW 9 54709210 missense probably benign 0.03
X0057:Dnaja4 UTSW 9 54699804 missense probably damaging 1.00
Posted On2016-08-02