Incidental Mutation 'R3757:Dnajc28'
ID 271501
Institutional Source Beutler Lab
Gene Symbol Dnajc28
Ensembl Gene ENSMUSG00000039763
Gene Name DnaJ heat shock protein family (Hsp40) member C28
Synonyms ORF28
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3757 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 91411142-91415914 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 91413755 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 187 (T187M)
Ref Sequence ENSEMBL: ENSMUSP00000132288 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023684] [ENSMUST00000049244] [ENSMUST00000133731] [ENSMUST00000143058] [ENSMUST00000156713] [ENSMUST00000169982] [ENSMUST00000232289] [ENSMUST00000232640]
AlphaFold Q8VCE1
Predicted Effect probably benign
Transcript: ENSMUST00000023684
SMART Domains Protein: ENSMUSP00000023684
Gene: ENSMUSG00000022962

DomainStartEndE-ValueType
Pfam:GARS_N 3 104 6.4e-37 PFAM
GARS_A 105 298 4.42e-132 SMART
GARS_C 333 426 1.33e-44 SMART
Pfam:AIRS 473 593 1.2e-17 PFAM
Pfam:AIRS_C 606 777 9e-40 PFAM
Pfam:Formyl_trans_N 808 988 3.4e-68 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000049244
AA Change: T163M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000048113
Gene: ENSMUSG00000039763
AA Change: T163M

DomainStartEndE-ValueType
DnaJ 47 105 1.04e-11 SMART
low complexity region 112 123 N/A INTRINSIC
Pfam:DUF1992 203 342 4.7e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133731
SMART Domains Protein: ENSMUSP00000118526
Gene: ENSMUSG00000039763

DomainStartEndE-ValueType
DnaJ 47 84 6.65e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138207
Predicted Effect possibly damaging
Transcript: ENSMUST00000143058
AA Change: T187M

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000120318
Gene: ENSMUSG00000039763
AA Change: T187M

DomainStartEndE-ValueType
DnaJ 71 129 1.04e-11 SMART
low complexity region 136 147 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000156713
SMART Domains Protein: ENSMUSP00000119272
Gene: ENSMUSG00000022962

DomainStartEndE-ValueType
Pfam:GARS_N 3 104 1.4e-40 PFAM
GARS_A 105 298 4.42e-132 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000169982
AA Change: T187M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000132288
Gene: ENSMUSG00000039763
AA Change: T187M

DomainStartEndE-ValueType
DnaJ 71 129 1.04e-11 SMART
low complexity region 136 147 N/A INTRINSIC
Pfam:DUF1992 227 295 1.2e-24 PFAM
coiled coil region 312 342 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000232643
Predicted Effect probably benign
Transcript: ENSMUST00000232289
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232620
Predicted Effect probably benign
Transcript: ENSMUST00000232640
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.3%
Validation Efficiency 92% (35/38)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the DnaJ heat shock protein family. The encoded protein, which contains a conserved N-terminal DnaJ domain, is thought to play a role in protein folding or act as a molecular chaperone protein. [provided by RefSeq, Oct 2016]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl3 T A 7: 81,986,415 (GRCm39) I9K probably benign Het
Arhgap31 T C 16: 38,457,362 (GRCm39) E82G probably damaging Het
Asap2 T A 12: 21,317,767 (GRCm39) S993T probably damaging Het
Bmpr1a A T 14: 34,156,624 (GRCm39) L134* probably null Het
Cacna1e A G 1: 154,509,442 (GRCm39) V271A probably damaging Het
Cacna2d4 A G 6: 119,218,124 (GRCm39) E153G probably damaging Het
Cage1 A C 13: 38,209,705 (GRCm39) F91V possibly damaging Het
Cdh24 T C 14: 54,869,637 (GRCm39) D760G possibly damaging Het
Col9a1 T C 1: 24,271,312 (GRCm39) probably null Het
Cts6 A T 13: 61,349,972 (GRCm39) Y36* probably null Het
Dennd3 C G 15: 73,394,083 (GRCm39) A36G probably benign Het
Dmxl1 G A 18: 50,068,384 (GRCm39) G2719D probably damaging Het
Ep300 T A 15: 81,532,790 (GRCm39) V1676E unknown Het
Ercc4 C T 16: 12,962,360 (GRCm39) T668M probably benign Het
G530012D18Rik CAGAGAGA CAGAGAGAGA 1: 85,504,945 (GRCm39) probably null Het
Gm10985 GCTCTCTCTCTCTCTCTCTCTCTCTCTCT GCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT 3: 53,752,645 (GRCm39) probably null Het
H1f4 T A 13: 23,806,240 (GRCm39) K81* probably null Het
Havcr1 G T 11: 46,643,407 (GRCm39) R109L probably damaging Het
Krtap4-9 A G 11: 99,676,444 (GRCm39) probably benign Het
Layn T C 9: 50,970,856 (GRCm39) E229G probably benign Het
Lpcat3 T A 6: 124,676,955 (GRCm39) probably null Het
Lrrn1 T A 6: 107,546,169 (GRCm39) F656I possibly damaging Het
Lypd1 A G 1: 125,838,121 (GRCm39) probably benign Het
Or4k41 T A 2: 111,279,602 (GRCm39) V39E possibly damaging Het
Or5v1b T A 17: 37,841,246 (GRCm39) I126N probably damaging Het
Or6c207 T C 10: 129,104,934 (GRCm39) D86G probably damaging Het
Ptprt A T 2: 161,653,950 (GRCm39) L560Q probably damaging Het
Rbm11 T C 16: 75,393,469 (GRCm39) V55A probably damaging Het
Scn11a C T 9: 119,632,569 (GRCm39) V434I probably benign Het
Serpinc1 A G 1: 160,829,935 (GRCm39) T434A probably benign Het
Setd2 T C 9: 110,402,753 (GRCm39) I1798T probably damaging Het
Sfswap A G 5: 129,590,298 (GRCm39) Y265C probably damaging Het
Slc9a8 C A 2: 167,266,050 (GRCm39) T9K probably benign Het
Synpo T C 18: 60,736,062 (GRCm39) D389G probably damaging Het
Vmn1r181 C T 7: 23,683,909 (GRCm39) L125F possibly damaging Het
Wdfy4 A C 14: 32,745,331 (GRCm39) H2296Q probably benign Het
Other mutations in Dnajc28
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02878:Dnajc28 APN 16 91,413,329 (GRCm39) missense possibly damaging 0.49
R1199:Dnajc28 UTSW 16 91,415,530 (GRCm39) unclassified probably benign
R2265:Dnajc28 UTSW 16 91,413,200 (GRCm39) missense probably benign 0.00
R2266:Dnajc28 UTSW 16 91,413,200 (GRCm39) missense probably benign 0.00
R2276:Dnajc28 UTSW 16 91,413,755 (GRCm39) missense probably damaging 1.00
R2277:Dnajc28 UTSW 16 91,413,755 (GRCm39) missense probably damaging 1.00
R2278:Dnajc28 UTSW 16 91,413,755 (GRCm39) missense probably damaging 1.00
R2364:Dnajc28 UTSW 16 91,413,755 (GRCm39) missense probably damaging 1.00
R2366:Dnajc28 UTSW 16 91,413,755 (GRCm39) missense probably damaging 1.00
R2367:Dnajc28 UTSW 16 91,413,755 (GRCm39) missense probably damaging 1.00
R2447:Dnajc28 UTSW 16 91,413,755 (GRCm39) missense probably damaging 1.00
R3890:Dnajc28 UTSW 16 91,413,755 (GRCm39) missense probably damaging 1.00
R4087:Dnajc28 UTSW 16 91,413,755 (GRCm39) missense probably damaging 1.00
R4088:Dnajc28 UTSW 16 91,413,755 (GRCm39) missense probably damaging 1.00
R4110:Dnajc28 UTSW 16 91,413,755 (GRCm39) missense probably damaging 1.00
R4112:Dnajc28 UTSW 16 91,413,755 (GRCm39) missense probably damaging 1.00
R4113:Dnajc28 UTSW 16 91,413,755 (GRCm39) missense probably damaging 1.00
R6372:Dnajc28 UTSW 16 91,414,176 (GRCm39) missense probably benign 0.36
R6613:Dnajc28 UTSW 16 91,413,246 (GRCm39) nonsense probably null
R8061:Dnajc28 UTSW 16 91,414,058 (GRCm39) missense possibly damaging 0.70
R8163:Dnajc28 UTSW 16 91,413,795 (GRCm39) nonsense probably null
R8165:Dnajc28 UTSW 16 91,413,795 (GRCm39) nonsense probably null
R8172:Dnajc28 UTSW 16 91,413,795 (GRCm39) nonsense probably null
R8174:Dnajc28 UTSW 16 91,413,795 (GRCm39) nonsense probably null
Z1176:Dnajc28 UTSW 16 91,413,921 (GRCm39) missense probably benign 0.25
Predicted Primers PCR Primer
(F):5'- CAGCCAGAAAATTTCTTCAGCG -3'
(R):5'- TGTCCCATGCGATAAAACGG -3'

Sequencing Primer
(F):5'- TTTCCCGCTGAGATTGTCAAAG -3'
(R):5'- TGCGATAAAACGGATGCATGCC -3'
Posted On 2015-03-18