Incidental Mutation 'R6323:Dnajc14'
ID 510212
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 044477-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6323 (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: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 98% (40/41)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik A G 2: 68,436,568 (GRCm39) T171A unknown Het
Akr1c6 A G 13: 4,497,017 (GRCm39) K153R possibly damaging Het
Ano1 T A 7: 144,165,423 (GRCm39) I601F possibly damaging Het
Arfgef2 A G 2: 166,676,404 (GRCm39) Y8C probably damaging Het
Arhgef4 G A 1: 34,762,558 (GRCm39) A605T unknown Het
Atp1a2 C G 1: 172,116,903 (GRCm39) R238P probably damaging Het
Baz2a A G 10: 127,962,286 (GRCm39) I1816V probably benign Het
Cadps2 T A 6: 23,263,577 (GRCm39) T1294S probably benign Het
Casz1 T C 4: 149,026,161 (GRCm39) S952P possibly damaging Het
Cdc20 T C 4: 118,292,761 (GRCm39) N329S probably damaging Het
Ceacam1 A C 7: 25,174,076 (GRCm39) L193R probably damaging Het
Celf5 A G 10: 81,305,337 (GRCm39) S143P probably damaging Het
Cfap74 A G 4: 155,548,395 (GRCm39) D1342G possibly damaging Het
Chd5 C A 4: 152,451,791 (GRCm39) T701K probably damaging Het
Cpt1b C A 15: 89,303,266 (GRCm39) M596I probably benign Het
Ctrb1 A G 8: 112,416,223 (GRCm39) V21A probably benign Het
Diaph3 C T 14: 87,203,889 (GRCm39) V579I probably benign Het
Dlc1 T C 8: 37,405,537 (GRCm39) E84G possibly damaging Het
Galns T C 8: 123,325,390 (GRCm39) D254G probably damaging Het
Gpn3 C T 5: 122,510,638 (GRCm39) probably benign Het
Gstm1 A G 3: 107,925,063 (GRCm39) V10A probably benign Het
Krt13 C A 11: 100,011,976 (GRCm39) A116S probably damaging Het
Lars2 A T 9: 123,270,659 (GRCm39) K584* probably null Het
Lrrc43 G T 5: 123,641,949 (GRCm39) G600W probably damaging Het
Madd G T 2: 90,991,783 (GRCm39) probably null Het
Mnat1 A G 12: 73,214,878 (GRCm39) D65G probably damaging Het
Nsmf A G 2: 24,945,063 (GRCm39) N42S possibly damaging Het
Or4k77 T C 2: 111,199,046 (GRCm39) L23P possibly damaging Het
Or5ac16 A G 16: 59,022,645 (GRCm39) L48P probably damaging Het
Palld A T 8: 62,173,727 (GRCm39) W311R probably damaging Het
Pax1 T A 2: 147,210,321 (GRCm39) V352E probably damaging Het
Rnf2 T C 1: 151,348,967 (GRCm39) K51R probably damaging Het
Rpl7l1 C A 17: 47,093,564 (GRCm39) probably benign Het
Slc1a6 G A 10: 78,648,721 (GRCm39) G481S probably damaging Het
Slc34a1 A G 13: 23,998,969 (GRCm39) I121V probably benign Het
Spata31h1 G A 10: 82,118,916 (GRCm39) T4698I probably benign Het
Trav6-1 T C 14: 52,876,248 (GRCm39) V56A possibly damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r79 T A 7: 86,650,522 (GRCm39) C103S probably benign Het
Wwp2 A T 8: 108,267,303 (GRCm39) H305L probably damaging Het
Zfp593 A G 4: 133,972,224 (GRCm39) V94A 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
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
R6400: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'- TCTCTTGGCTGGGTTCTCCA -3'
(R):5'- GGAAATCCTTCACCTTCCCTTG -3'

Sequencing Primer
(F):5'- GGGTTCTCCAGCCTTGC -3'
(R):5'- TTGACTCTACACTCCCTAAAAACTGG -3'
Posted On 2018-04-02