Incidental Mutation 'R6400:Dnajc14'
ID 516134
Institutional Source Beutler Lab
Gene Symbol Dnajc14
Ensembl Gene ENSMUSG00000025354
Gene Name DnaJ heat shock protein family (Hsp40) member C14
Synonyms LIP6, 5730551F12Rik, HDJ3, DRIP78
MMRRC Submission 044547-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6400 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 128641423-128655317 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 128643359 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 427 (E427G)
Ref Sequence ENSEMBL: ENSMUSP00000151343 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026410] [ENSMUST00000051011] [ENSMUST00000139227] [ENSMUST00000217745] [ENSMUST00000218001] [ENSMUST00000219508] [ENSMUST00000218511]
AlphaFold Q921R4
Predicted Effect probably damaging
Transcript: ENSMUST00000026410
AA Change: E427G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000026410
Gene: ENSMUSG00000025354
AA Change: E427G

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 damaging
Transcript: ENSMUST00000217745
AA Change: E427G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000218001
Predicted Effect probably damaging
Transcript: ENSMUST00000219508
AA Change: E427G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219473
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218765
Predicted Effect probably benign
Transcript: ENSMUST00000218511
Meta Mutation Damage Score 0.1645 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 99.0%
  • 20x: 96.2%
Validation Efficiency 100% (32/32)
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,638,435 (GRCm39) *160Q probably null Het
Aen G A 7: 78,557,142 (GRCm39) G330E probably benign Het
Akap8l G A 17: 32,555,294 (GRCm39) R262C probably damaging Het
Cbx8 G A 11: 118,929,694 (GRCm39) Q300* probably null Het
Cd274 C T 19: 29,362,808 (GRCm39) T290M probably damaging Het
Cd36 A C 5: 18,019,721 (GRCm39) S127A probably damaging Het
Celf3 A G 3: 94,387,593 (GRCm39) Y55C probably damaging Het
Clec1a A T 6: 129,412,316 (GRCm39) probably null Het
Cog2 A T 8: 125,277,045 (GRCm39) I684F probably damaging Het
Cyp2c65 C T 19: 39,049,558 (GRCm39) L29F possibly damaging Het
Dytn A T 1: 63,680,335 (GRCm39) L408* probably null Het
Flg A G 3: 93,187,228 (GRCm39) T227A probably benign Het
Heatr4 T A 12: 84,001,784 (GRCm39) K887M probably null Het
Hoxb1 C T 11: 96,256,818 (GRCm39) Q56* probably null Het
Kcnh7 T A 2: 62,569,688 (GRCm39) N736I probably damaging Het
Lgr4 T C 2: 109,821,478 (GRCm39) V120A probably damaging Het
Ltbp1 A G 17: 75,458,397 (GRCm39) Y326C possibly damaging Het
Map3k1 A T 13: 111,892,259 (GRCm39) S999T probably damaging Het
Med12l T C 3: 59,155,332 (GRCm39) F1171L probably damaging Het
Muc5b T C 7: 141,412,402 (GRCm39) S1783P unknown Het
Nbr1 T C 11: 101,456,600 (GRCm39) L159P probably damaging Het
Nme9 T C 9: 99,351,760 (GRCm39) F248S possibly damaging Het
Or4x11 C T 2: 89,867,739 (GRCm39) L159F probably benign Het
Or6k2 T C 1: 173,986,830 (GRCm39) S164P probably damaging Het
Rasgrf1 C T 9: 89,873,683 (GRCm39) T664I probably damaging Het
Setx A G 2: 29,020,286 (GRCm39) D91G probably damaging Het
Stim1 A G 7: 102,080,157 (GRCm39) R514G probably null Het
Svep1 C A 4: 58,049,169 (GRCm39) G3446V probably damaging Het
Tcte2 T A 17: 13,942,714 (GRCm39) probably benign Het
Trmt10b A G 4: 45,308,562 (GRCm39) K239E probably damaging Het
Wdr70 A T 15: 8,072,322 (GRCm39) S189T probably benign Het
Other mutations in Dnajc14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00432:Dnajc14 APN 10 128,642,201 (GRCm39) missense probably damaging 1.00
IGL00924:Dnajc14 APN 10 128,653,188 (GRCm39) missense probably benign
IGL00943:Dnajc14 APN 10 128,652,675 (GRCm39) missense possibly damaging 0.92
IGL02833:Dnajc14 APN 10 128,642,468 (GRCm39) missense possibly damaging 0.94
IGL02799:Dnajc14 UTSW 10 128,642,725 (GRCm39) missense possibly damaging 0.88
PIT4812001:Dnajc14 UTSW 10 128,642,552 (GRCm39) missense probably damaging 0.96
R0054:Dnajc14 UTSW 10 128,643,448 (GRCm39) missense probably damaging 1.00
R0054:Dnajc14 UTSW 10 128,643,448 (GRCm39) missense probably damaging 1.00
R1932:Dnajc14 UTSW 10 128,652,661 (GRCm39) missense probably damaging 1.00
R4412:Dnajc14 UTSW 10 128,642,074 (GRCm39) start gained probably benign
R4717:Dnajc14 UTSW 10 128,642,113 (GRCm39) missense possibly damaging 0.92
R4804:Dnajc14 UTSW 10 128,649,926 (GRCm39) missense probably benign 0.06
R4870:Dnajc14 UTSW 10 128,653,219 (GRCm39) missense probably benign 0.00
R6323:Dnajc14 UTSW 10 128,643,359 (GRCm39) missense probably damaging 1.00
R6325:Dnajc14 UTSW 10 128,643,359 (GRCm39) missense probably damaging 1.00
R6399:Dnajc14 UTSW 10 128,643,359 (GRCm39) missense probably damaging 1.00
R6452:Dnajc14 UTSW 10 128,643,359 (GRCm39) missense probably damaging 1.00
R6453:Dnajc14 UTSW 10 128,643,359 (GRCm39) missense probably damaging 1.00
R6556:Dnajc14 UTSW 10 128,650,500 (GRCm39) missense probably benign 0.42
R6847:Dnajc14 UTSW 10 128,652,656 (GRCm39) missense possibly damaging 0.61
R8692:Dnajc14 UTSW 10 128,642,900 (GRCm39) missense probably damaging 1.00
R8859:Dnajc14 UTSW 10 128,642,488 (GRCm39) missense probably benign
R9254:Dnajc14 UTSW 10 128,652,743 (GRCm39) critical splice donor site probably null
R9260:Dnajc14 UTSW 10 128,642,766 (GRCm39) missense possibly damaging 0.57
R9277:Dnajc14 UTSW 10 128,642,689 (GRCm39) missense probably benign
R9379:Dnajc14 UTSW 10 128,652,743 (GRCm39) critical splice donor site probably null
R9526:Dnajc14 UTSW 10 128,642,260 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GACCGCTTGGCTGTTCTCTT -3'
(R):5'- CCCTTGACTCTACACTCCCTAAA -3'

Sequencing Primer
(F):5'- GTTCTCTTGGCTGGGTTCTCC -3'
(R):5'- TTGACTCTACACTCCCTAAAAACTGG -3'
Posted On 2018-05-04