Incidental Mutation 'IGL01743:Dnajb14'
ID152946
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnajb14
Ensembl Gene ENSMUSG00000074212
Gene NameDnaJ heat shock protein family (Hsp40) member B14
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.413) question?
Stock #IGL01743
Quality Score
Status
Chromosome3
Chromosomal Location137867675-137916557 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 137906000 bp
ZygosityHeterozygous
Amino Acid Change Valine to Leucine at position 320 (V320L)
Ref Sequence ENSEMBL: ENSMUSP00000087641 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090178] [ENSMUST00000197711]
Predicted Effect possibly damaging
Transcript: ENSMUST00000090178
AA Change: V320L

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000087641
Gene: ENSMUSG00000074212
AA Change: V320L

DomainStartEndE-ValueType
DnaJ 107 164 3.8e-28 SMART
low complexity region 226 242 N/A INTRINSIC
Pfam:DUF1977 265 371 1.1e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000118147
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195903
Predicted Effect probably benign
Transcript: ENSMUST00000197711
SMART Domains Protein: ENSMUSP00000143194
Gene: ENSMUSG00000074212

DomainStartEndE-ValueType
DnaJ 57 114 2.4e-30 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430078G23Rik G T 8: 3,364,697 C25F probably benign Het
Abcc6 A T 7: 45,996,814 N750K probably benign Het
Ackr2 T C 9: 121,909,500 C314R probably benign Het
Adar C T 3: 89,745,440 Q210* probably null Het
Aifm1 A G X: 48,480,276 probably benign Het
Aldoa G T 7: 126,796,703 D198E probably damaging Het
Ampd1 T A 3: 103,094,885 probably benign Het
Btnl1 T C 17: 34,385,685 I480T probably damaging Het
Capn9 T C 8: 124,591,769 S125P probably benign Het
Cd40lg T A X: 57,212,232 Y26* probably null Het
Cdc42bpg G T 19: 6,309,823 probably null Het
Cdh10 T C 15: 18,986,769 L362P probably benign Het
Dhx16 A G 17: 35,888,108 D782G probably damaging Het
Dpy19l1 C T 9: 24,485,069 R117Q probably damaging Het
Ercc6 T C 14: 32,552,604 V568A probably damaging Het
Faf2 T C 13: 54,641,498 probably null Het
Fbrsl1 C T 5: 110,381,640 V223M probably damaging Het
Fcrl5 T C 3: 87,444,291 V282A probably damaging Het
Fxr2 C T 11: 69,652,622 L650F possibly damaging Het
Gabrq A G X: 72,836,842 M314V probably benign Het
Gnas T A 2: 174,298,332 Y157* probably null Het
Gtf2i T C 5: 134,286,893 E175G probably damaging Het
Gtf3c1 A C 7: 125,663,415 Y1091D probably damaging Het
Heatr5b G A 17: 78,824,640 Q345* probably null Het
Hydin T C 8: 110,592,776 V4437A possibly damaging Het
Idi2 T A 13: 8,958,542 L112Q probably damaging Het
Ift80 C T 3: 68,962,296 V221M probably benign Het
Il16 A G 7: 83,652,299 F205S probably benign Het
Irf1 T A 11: 53,774,451 M218K probably benign Het
Itga8 T C 2: 12,265,333 N114S probably benign Het
Itgae T C 11: 73,111,759 V114A probably benign Het
Klhdc10 A G 6: 30,441,934 probably null Het
Krt78 C A 15: 101,950,898 R288L probably benign Het
Lars2 A T 9: 123,453,248 L632F probably damaging Het
Mpdz T C 4: 81,317,682 D1220G probably damaging Het
Msl1 C T 11: 98,805,419 T597I probably damaging Het
Mtor T C 4: 148,530,613 probably benign Het
Myo1b T C 1: 51,782,020 T435A probably damaging Het
Neb A G 2: 52,225,667 Y4176H probably damaging Het
Nxpe3 A G 16: 55,849,765 F326L probably benign Het
Olfr532 T C 7: 140,419,668 Y35C probably damaging Het
Olfr705 A G 7: 106,714,334 S116P possibly damaging Het
Pak7 T A 2: 136,087,413 R617W probably damaging Het
Peak1 C A 9: 56,259,202 V481L probably damaging Het
Pik3ap1 G A 19: 41,292,828 probably benign Het
Pmm1 C T 15: 81,960,786 E6K probably benign Het
Ppp2r5c G A 12: 110,580,434 V454M probably benign Het
Ptprf C T 4: 118,248,898 probably null Het
Pygm G A 19: 6,392,994 probably null Het
Rimbp2 T A 5: 128,797,848 probably benign Het
Rps6ka5 A T 12: 100,575,633 probably null Het
Scarb2 A G 5: 92,460,803 V188A probably benign Het
Sfrp1 T A 8: 23,412,338 probably benign Het
Siglec15 T A 18: 78,043,605 probably benign Het
Smgc A G 15: 91,854,593 I485V probably benign Het
Tas2r124 A G 6: 132,754,835 I36V probably benign Het
Trmt10b G T 4: 45,305,879 G185W probably damaging Het
Ttll4 A G 1: 74,688,193 N798S possibly damaging Het
Ttn G T 2: 76,789,552 T15924N probably damaging Het
Utrn A T 10: 12,711,557 Y912N possibly damaging Het
Vmn2r113 T C 17: 22,958,311 Y690H probably benign Het
Vmn2r51 T C 7: 10,100,227 R295G probably damaging Het
Vpreb3 A G 10: 75,948,397 T14A probably benign Het
Other mutations in Dnajb14
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1104:Dnajb14 UTSW 3 137908354 missense possibly damaging 0.75
R2271:Dnajb14 UTSW 3 137885380 missense probably benign
R2425:Dnajb14 UTSW 3 137892905 missense probably null 1.00
R3418:Dnajb14 UTSW 3 137892870 missense probably null 0.99
R3921:Dnajb14 UTSW 3 137904852 missense probably damaging 1.00
R4322:Dnajb14 UTSW 3 137885299 missense probably damaging 1.00
R5378:Dnajb14 UTSW 3 137885378 missense probably benign 0.01
R6256:Dnajb14 UTSW 3 137908362 missense probably damaging 1.00
R6256:Dnajb14 UTSW 3 137908363 missense probably damaging 1.00
R7577:Dnajb14 UTSW 3 137904797 missense possibly damaging 0.84
X0028:Dnajb14 UTSW 3 137902302 missense probably benign 0.18
Posted On2014-02-04