Incidental Mutation 'IGL02799:Dnajc14'
ID 392288
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02799 (G1)
Quality Score 179
Status Validated
Chromosome 10
Chromosomal Location 128641423-128655317 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 128642725 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 216 (P216S)
Ref Sequence ENSEMBL: ENSMUSP00000151343 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026410] [ENSMUST00000051011] [ENSMUST00000139227] [ENSMUST00000217745] [ENSMUST00000218001] [ENSMUST00000219508] [ENSMUST00000218511]
AlphaFold Q921R4
Predicted Effect possibly damaging
Transcript: ENSMUST00000026410
AA Change: P216S

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000026410
Gene: ENSMUSG00000025354
AA Change: P216S

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 possibly damaging
Transcript: ENSMUST00000217745
AA Change: P216S

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000218001
Predicted Effect possibly damaging
Transcript: ENSMUST00000219508
AA Change: P216S

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219473
Predicted Effect probably benign
Transcript: ENSMUST00000218511
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218765
Meta Mutation Damage Score 0.0727 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 99% (67/68)
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add2 A G 6: 86,083,234 (GRCm39) N444S possibly damaging Het
Atp2b2 A T 6: 113,739,813 (GRCm39) Y823* probably null Het
Atp2c1 A C 9: 105,290,242 (GRCm39) probably benign Het
Capns1 A T 7: 29,891,644 (GRCm39) D133E probably benign Het
Cast A G 13: 74,884,871 (GRCm39) V361A probably damaging Het
Cd69 G A 6: 129,245,223 (GRCm39) probably benign Het
Celsr2 T A 3: 108,321,378 (GRCm39) D478V probably damaging Het
Cenpf T C 1: 189,391,849 (GRCm39) E661G probably damaging Het
Chrna1 A G 2: 73,404,985 (GRCm39) probably benign Het
Clec5a C A 6: 40,554,983 (GRCm39) V138F probably damaging Het
Ctsj T A 13: 61,151,634 (GRCm39) I95F probably benign Het
Dcaf1 T A 9: 106,735,139 (GRCm39) S696T probably benign Het
Dcp1a T C 14: 30,241,636 (GRCm39) probably null Het
Dst T C 1: 34,218,930 (GRCm39) I1790T possibly damaging Het
Ehmt1 A T 2: 24,705,818 (GRCm39) H789Q probably damaging Het
Exoc7 A T 11: 116,192,007 (GRCm39) L188Q probably damaging Het
Faap100 A G 11: 120,261,561 (GRCm39) L823P probably damaging Het
Fdxacb1 T A 9: 50,683,896 (GRCm39) S620T probably benign Het
Fhl2 C T 1: 43,167,562 (GRCm39) R177Q probably benign Het
Gars1 C A 6: 55,040,084 (GRCm39) T337K probably damaging Het
Ggta1 A T 2: 35,312,211 (GRCm39) F56I probably damaging Het
Gm10715 A C 9: 3,038,062 (GRCm39) probably benign Het
Gpr108 T A 17: 57,544,482 (GRCm39) I343F probably damaging Het
Gpr12 T A 5: 146,520,629 (GRCm39) I98F possibly damaging Het
Hk2 A G 6: 82,737,219 (GRCm39) L3P probably damaging Het
Imp4 C A 1: 34,479,258 (GRCm39) probably benign Het
Insrr G A 3: 87,720,888 (GRCm39) V1049M probably damaging Het
Klhl24 T C 16: 19,933,331 (GRCm39) V314A probably damaging Het
Krt32 A T 11: 99,978,733 (GRCm39) V107D possibly damaging Het
Krtap5-1 G A 7: 141,850,242 (GRCm39) Q189* probably null Het
Lrrc9 A G 12: 72,553,178 (GRCm39) E1360G probably damaging Het
Mdc1 G T 17: 36,157,083 (GRCm39) L163F possibly damaging Het
Mroh1 T G 15: 76,276,661 (GRCm39) probably null Het
Myh8 A G 11: 67,192,418 (GRCm39) probably benign Het
Ndufab1 A T 7: 121,692,949 (GRCm39) probably benign Het
Nek3 A G 8: 22,648,735 (GRCm39) probably benign Het
Ngly1 A T 14: 16,260,636 (GRCm38) I107L probably benign Het
Nkain4 A T 2: 180,577,728 (GRCm39) probably null Het
Nsd2 T A 5: 34,022,132 (GRCm39) probably benign Het
Or4n4 A G 14: 50,518,801 (GRCm39) I303T probably benign Het
Or5e1 A T 7: 108,354,830 (GRCm39) M256L probably benign Het
Or5t9 A T 2: 86,659,300 (GRCm39) H68L probably damaging Het
Or7e166 T A 9: 19,624,314 (GRCm39) Y64N probably damaging Het
Or8b12 T A 9: 37,657,805 (GRCm39) I125N probably damaging Het
Pcnt G A 10: 76,248,417 (GRCm39) Q901* probably null Het
Pctp C A 11: 89,881,913 (GRCm39) W81C probably damaging Het
Pik3r5 A T 11: 68,386,773 (GRCm39) I801F probably damaging Het
Ptprj A T 2: 90,299,942 (GRCm39) N193K probably benign Het
Rab11fip1 A T 8: 27,642,788 (GRCm39) D670E probably benign Het
Racgap1 T C 15: 99,530,628 (GRCm39) K201E probably benign Het
Ranbp2 T C 10: 58,316,086 (GRCm39) F2269L probably damaging Het
Rint1 C A 5: 24,024,478 (GRCm39) A760D possibly damaging Het
Ryr2 G A 13: 11,680,848 (GRCm39) P3166S probably damaging Het
Snap29 A G 16: 17,240,367 (GRCm39) N158D probably benign Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
St6galnac1 G T 11: 116,657,473 (GRCm39) probably benign Het
Strc G A 2: 121,209,717 (GRCm39) T202I probably damaging Het
Stxbp4 A G 11: 90,385,426 (GRCm39) probably null Het
Syne1 A T 10: 5,309,059 (GRCm39) M650K probably damaging Het
Tbc1d2b C T 9: 90,105,487 (GRCm39) probably benign Het
Tcfl5 A T 2: 180,280,419 (GRCm39) I328N possibly damaging Het
Tenm2 A G 11: 36,164,235 (GRCm39) Y337H probably damaging Het
Tgfbr2 T C 9: 115,939,204 (GRCm39) K233E possibly damaging Het
Tnk2 T C 16: 32,484,699 (GRCm39) probably benign Het
Trbv13-2 A G 6: 41,098,471 (GRCm39) probably benign Het
Tut4 T C 4: 108,370,725 (GRCm39) Y875H probably benign Het
Usp6nl T A 2: 6,432,360 (GRCm39) probably benign Het
Vmn2r62 A G 7: 42,437,396 (GRCm39) S363P possibly damaging Het
Vnn3 T C 10: 23,727,869 (GRCm39) I93T possibly damaging Het
Ylpm1 A G 12: 85,091,258 (GRCm39) D1108G probably damaging Het
Zbtb17 G A 4: 141,190,691 (GRCm39) G170S probably benign Het
Zfyve26 T C 12: 79,320,084 (GRCm39) E1087G 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
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
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'- GAGGAAGGAGATGGCTCTTC -3'
(R):5'- CATGCGTAAATGAGATGGCCAC -3'

Sequencing Primer
(F):5'- AGCCTTTGCCACCATTGCAC -3'
(R):5'- ATGAGATGGCCACAGGTTTCC -3'
Posted On 2016-06-09