Incidental Mutation 'R6256:Dnajb14'
ID 506099
Institutional Source Beutler Lab
Gene Symbol Dnajb14
Ensembl Gene ENSMUSG00000074212
Gene Name DnaJ heat shock protein family (Hsp40) member B14
Synonyms
MMRRC Submission 044373-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.322) question?
Stock # R6256 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 137867675-137916557 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 137908363 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 345 (A345V)
Ref Sequence ENSEMBL: ENSMUSP00000087641 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090178]
AlphaFold Q149L6
Predicted Effect probably damaging
Transcript: ENSMUST00000090178
AA Change: A345V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000087641
Gene: ENSMUSG00000074212
AA Change: A345V

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: ENSMUST00000158307
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195903
Meta Mutation Damage Score 0.1762 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.5%
Validation Efficiency 99% (74/75)
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik A T 8: 72,451,428 Q361L probably damaging Het
Abca7 A G 10: 80,002,622 T577A probably damaging Het
Acad12 A T 5: 121,614,086 V54E probably benign Het
Ago4 A G 4: 126,520,226 Y91H probably damaging Het
Akr1b10 T C 6: 34,387,688 V28A probably damaging Het
Ccdc33 T A 9: 58,101,918 probably null Het
Ccdc7a T C 8: 128,935,593 probably null Het
Ces1f A T 8: 93,265,794 V343E probably damaging Het
Cftr T C 6: 18,274,661 L896P probably damaging Het
Csmd3 G A 15: 47,669,729 P2375S probably damaging Het
Dnase1 G A 16: 4,037,621 R24K probably benign Het
Dnmbp C T 19: 43,852,281 V560M probably damaging Het
Dopey2 T A 16: 93,807,214 I1981N possibly damaging Het
Eif3a A C 19: 60,771,026 S770A possibly damaging Het
Fbxl7 A T 15: 26,553,002 C60S probably benign Het
Fras1 A T 5: 96,733,843 D2478V possibly damaging Het
Hrnr A G 3: 93,322,611 D52G probably damaging Het
Jmjd1c T A 10: 67,220,408 L823M probably damaging Het
Kdm1a G T 4: 136,568,600 C172* probably null Het
Kdm6b C T 11: 69,406,729 E295K probably damaging Het
Mepe A T 5: 104,337,074 M27L probably benign Het
Mogat2 A T 7: 99,219,895 H305Q probably damaging Het
Mst1r T A 9: 107,917,266 Y1215N probably damaging Het
Muc5ac A T 7: 141,789,795 H48L possibly damaging Het
Myo7b T C 18: 31,983,695 D953G probably damaging Het
Ocel1 T C 8: 71,371,828 probably benign Het
Pcdhb6 A G 18: 37,335,925 D633G probably damaging Het
Ppm1l A G 3: 69,497,897 I176V probably benign Het
Sall3 C T 18: 80,969,861 R1120H possibly damaging Het
Sbf1 G A 15: 89,300,867 P1018S probably benign Het
Setbp1 T C 18: 78,857,257 Y1065C probably damaging Het
Slc25a2 T C 18: 37,637,723 probably null Het
Slc4a2 C A 5: 24,435,890 T729K probably damaging Het
Sptlc2 T C 12: 87,355,531 E207G probably damaging Het
Sult6b1 A T 17: 78,906,914 F27I probably benign Het
Syf2 A T 4: 134,934,578 K84N probably damaging Het
Tmem209 A T 6: 30,497,167 N183K probably benign Het
Tmem232 G T 17: 65,478,402 Q188K possibly damaging Het
Tomm70a A T 16: 57,152,692 T598S probably benign Het
Ttll13 A G 7: 80,258,304 T556A probably benign Het
Vmn2r120 A T 17: 57,524,700 L363* probably null Het
Xpo6 G T 7: 126,108,619 Q872K probably damaging Het
Xrra1 A C 7: 99,914,464 S553R probably damaging Het
Zfy1 A T Y: 738,765 V147E unknown Homo
Zfy2 T C Y: 2,116,267 I258V probably benign Homo
Other mutations in Dnajb14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01743:Dnajb14 APN 3 137906000 missense possibly damaging 0.95
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
R7577:Dnajb14 UTSW 3 137904797 missense possibly damaging 0.84
R9205:Dnajb14 UTSW 3 137908384 missense possibly damaging 0.51
R9717:Dnajb14 UTSW 3 137902283 missense probably benign 0.01
X0028:Dnajb14 UTSW 3 137902302 missense probably benign 0.18
Predicted Primers PCR Primer
(F):5'- TTCCAGAGCAGCCCCTTAAG -3'
(R):5'- CAAATCTTCTTCAGCTTCATGGCG -3'

Sequencing Primer
(F):5'- GCCTTTAGTCATAGCATTCAGAGGC -3'
(R):5'- TGGCGACATGAAATTTACAGAG -3'
Posted On 2018-02-28