Incidental Mutation 'IGL02833:Dnajc14'
ID361541
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnajc14
Ensembl Gene ENSMUSG00000025354
Gene NameDnaJ heat shock protein family (Hsp40) member C14
SynonymsDRIP78, LIP6, HDJ3, 5730551F12Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02833
Quality Score
Status
Chromosome10
Chromosomal Location128804062-128819446 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 128806599 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 130 (N130S)
Ref Sequence ENSEMBL: ENSMUSP00000151567 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026410] [ENSMUST00000051011] [ENSMUST00000139227] [ENSMUST00000217745] [ENSMUST00000218001] [ENSMUST00000218511] [ENSMUST00000219508]
Predicted Effect probably benign
Transcript: ENSMUST00000026410
AA Change: N130S

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000026410
Gene: ENSMUSG00000025354
AA Change: N130S

DomainStartEndE-ValueType
low complexity region 17 28 N/A INTRINSIC
low complexity region 76 90 N/A INTRINSIC
low complexity region 164 176 N/A INTRINSIC
transmembrane domain 300 322 N/A INTRINSIC
transmembrane domain 327 349 N/A INTRINSIC
DnaJ 443 500 1.3e-21 SMART
Pfam:Jiv90 532 621 5.9e-40 PFAM
low complexity region 690 700 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000051011
SMART Domains Protein: ENSMUSP00000050451
Gene: ENSMUSG00000047090

DomainStartEndE-ValueType
Pfam:DUF4203 43 240 2.4e-47 PFAM
low complexity region 257 271 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000139227
SMART Domains Protein: ENSMUSP00000118082
Gene: ENSMUSG00000047090

DomainStartEndE-ValueType
Pfam:DUF4203 42 96 4.5e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152966
SMART Domains Protein: ENSMUSP00000117574
Gene: ENSMUSG00000047090

DomainStartEndE-ValueType
Pfam:DUF4203 42 241 1.9e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000217745
AA Change: N130S

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect probably benign
Transcript: ENSMUST00000218001
AA Change: N130S

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect possibly damaging
Transcript: ENSMUST00000218511
AA Change: N130S

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218765
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219473
Predicted Effect probably benign
Transcript: ENSMUST00000219508
AA Change: N130S

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833423E24Rik G T 2: 85,502,207 R158S possibly damaging Het
Ache A G 5: 137,291,109 probably benign Het
Atr A T 9: 95,862,852 H74L probably damaging Het
Brca2 A T 5: 150,541,790 H1673L possibly damaging Het
Brwd1 A T 16: 96,052,571 I495K probably damaging Het
Cacna1s A T 1: 136,071,005 I213F probably benign Het
Cds1 T C 5: 101,814,466 S316P possibly damaging Het
Ces1b G A 8: 93,079,410 P68S probably damaging Het
Cilp A G 9: 65,277,924 I434V probably benign Het
Csgalnact2 A G 6: 118,129,268 Y30H probably damaging Het
D430042O09Rik A T 7: 125,850,412 R883* probably null Het
Defb7 T C 8: 19,495,124 V6A probably benign Het
Dlg2 A T 7: 92,431,127 L841F probably damaging Het
Dock7 T A 4: 98,945,495 D1863V probably damaging Het
Dsp A G 13: 38,192,921 R1561G possibly damaging Het
Gstt4 G T 10: 75,822,340 F28L probably damaging Het
Hectd1 G T 12: 51,764,081 D1690E probably damaging Het
Hspb11 T C 4: 107,275,295 probably benign Het
Hspg2 T C 4: 137,555,130 S3394P probably benign Het
Igf2r A T 17: 12,692,723 C1910S probably damaging Het
Jakmip2 T C 18: 43,575,451 probably benign Het
Kif1b C T 4: 149,246,364 V612M probably damaging Het
Lrrd1 A G 5: 3,850,709 E338G probably damaging Het
Mmp9 C A 2: 164,949,803 D205E probably damaging Het
Mylk A T 16: 34,914,900 H750L probably benign Het
Naip6 A G 13: 100,299,613 S801P probably damaging Het
Nlrp1b A T 11: 71,161,172 M980K probably benign Het
Olfr1173 C A 2: 88,274,432 V206F probably benign Het
Olfr125 G A 17: 37,835,940 V314I probably benign Het
Olfr131 T C 17: 38,082,352 K209E possibly damaging Het
Olfr794 A G 10: 129,570,750 T32A probably benign Het
Pdk1 A G 2: 71,897,645 probably null Het
Pex7 A G 10: 19,894,754 S125P probably damaging Het
Pigu T C 2: 155,345,645 probably benign Het
Prr16 T A 18: 51,303,092 H214Q probably damaging Het
Psme4 C T 11: 30,850,715 probably benign Het
Sf3b3 A G 8: 110,811,977 probably null Het
Sp4 T C 12: 118,261,881 I583V probably benign Het
Spata22 A G 11: 73,343,743 T224A probably benign Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Tmem119 T A 5: 113,795,371 Y123F probably damaging Het
Umps A T 16: 33,962,153 L133* probably null Het
Usp46 T A 5: 74,016,682 T179S probably benign Het
Vtcn1 T A 3: 100,888,385 Y223N probably damaging Het
Wiz A G 17: 32,357,879 M567T probably damaging Het
Other mutations in Dnajc14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00432:Dnajc14 APN 10 128806332 missense probably damaging 1.00
IGL00924:Dnajc14 APN 10 128817319 missense probably benign
IGL00943:Dnajc14 APN 10 128816806 missense possibly damaging 0.92
IGL02799:Dnajc14 UTSW 10 128806856 missense possibly damaging 0.88
PIT4812001:Dnajc14 UTSW 10 128806683 missense probably damaging 0.96
R0054:Dnajc14 UTSW 10 128807579 missense probably damaging 1.00
R0054:Dnajc14 UTSW 10 128807579 missense probably damaging 1.00
R1932:Dnajc14 UTSW 10 128816792 missense probably damaging 1.00
R4412:Dnajc14 UTSW 10 128806205 start gained probably benign
R4717:Dnajc14 UTSW 10 128806244 missense possibly damaging 0.92
R4804:Dnajc14 UTSW 10 128814057 missense probably benign 0.06
R4870:Dnajc14 UTSW 10 128817350 missense probably benign 0.00
R6323:Dnajc14 UTSW 10 128807490 missense probably damaging 1.00
R6325:Dnajc14 UTSW 10 128807490 missense probably damaging 1.00
R6399:Dnajc14 UTSW 10 128807490 missense probably damaging 1.00
R6400:Dnajc14 UTSW 10 128807490 missense probably damaging 1.00
R6452:Dnajc14 UTSW 10 128807490 missense probably damaging 1.00
R6453:Dnajc14 UTSW 10 128807490 missense probably damaging 1.00
R6556:Dnajc14 UTSW 10 128814631 missense probably benign 0.42
R6847:Dnajc14 UTSW 10 128816787 missense possibly damaging 0.61
Posted On2015-12-18