Incidental Mutation 'R2912:Dnajc27'
ID 261318
Institutional Source Beutler Lab
Gene Symbol Dnajc27
Ensembl Gene ENSMUSG00000020657
Gene Name DnaJ heat shock protein family (Hsp40) member C27
Synonyms C330021A05Rik, Rbj, Rabj
MMRRC Submission 040499-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2912 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 4132583-4160606 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 4146280 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 103 (S103L)
Ref Sequence ENSEMBL: ENSMUSP00000151848 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020986] [ENSMUST00000049584] [ENSMUST00000219923]
AlphaFold Q8CFP6
Predicted Effect probably damaging
Transcript: ENSMUST00000020986
AA Change: S103L

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000020986
Gene: ENSMUSG00000020657
AA Change: S103L

DomainStartEndE-ValueType
Pfam:Arf 4 182 1.4e-15 PFAM
Pfam:GTP_EFTU 15 184 1.1e-5 PFAM
Pfam:Miro 18 137 6.6e-17 PFAM
Pfam:Ras 18 184 8e-44 PFAM
DnaJ 216 273 8.31e-11 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000049584
AA Change: S103L

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106803
Gene: ENSMUSG00000020657
AA Change: S103L

DomainStartEndE-ValueType
Pfam:Arf 4 182 1.4e-15 PFAM
Pfam:MMR_HSR1 18 135 5.9e-6 PFAM
Pfam:Roc 18 138 2.1e-24 PFAM
Pfam:Ras 18 184 9.5e-44 PFAM
Pfam:Gtr1_RagA 18 185 4.5e-6 PFAM
DnaJ 216 273 8.31e-11 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000219923
AA Change: S103L

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220273
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trapped allele exhibit decreased incidence, multiplicity and tumor burden in an AOM/DSS-induced colonic carcinogenesis model. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aloxe3 A T 11: 69,020,866 (GRCm39) K197M probably damaging Het
Asxl2 A G 12: 3,524,517 (GRCm39) K182E probably benign Het
Birc6 A G 17: 74,999,201 (GRCm39) D4643G probably damaging Het
Bmpr1b T C 3: 141,586,139 (GRCm39) D41G probably benign Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Creb3l1 T C 2: 91,817,398 (GRCm39) T372A possibly damaging Het
Dbn1 A G 13: 55,630,234 (GRCm39) F45L probably damaging Het
Dhx29 A G 13: 113,072,109 (GRCm39) E251G probably damaging Het
Dync1li1 T G 9: 114,544,743 (GRCm39) N348K probably benign Het
Emc1 T C 4: 139,092,571 (GRCm39) S504P possibly damaging Het
F5 A G 1: 164,021,488 (GRCm39) D1321G probably damaging Het
Garin4 T C 1: 190,895,425 (GRCm39) N406S probably benign Het
Gpr157 G A 4: 150,183,222 (GRCm39) V131I probably benign Het
Hprt1 T C X: 52,109,016 (GRCm39) Y174H probably damaging Het
Kcnq2 A G 2: 180,723,567 (GRCm39) V603A probably damaging Het
Lama2 T C 10: 26,876,799 (GRCm39) S2716G probably benign Het
Lax1 A G 1: 133,611,791 (GRCm39) V48A possibly damaging Het
Macf1 T A 4: 123,369,704 (GRCm39) I121F probably damaging Het
Med17 A G 9: 15,187,210 (GRCm39) L188P probably damaging Het
Mfsd5 A G 15: 102,189,743 (GRCm39) T372A probably benign Het
Mrgprb5 T C 7: 47,817,815 (GRCm39) S307G probably benign Het
Mroh9 T C 1: 162,871,572 (GRCm39) Y637C probably damaging Het
Nherf2 C T 17: 24,861,215 (GRCm39) G71S probably damaging Het
Nktr T C 9: 121,578,670 (GRCm39) probably benign Het
Nrg1 A G 8: 32,308,595 (GRCm39) S474P probably damaging Het
Nup210 T G 6: 91,003,956 (GRCm39) D644A probably damaging Het
Or10ak7 A G 4: 118,791,898 (GRCm39) I47T probably benign Het
Or4c11 A T 2: 88,695,458 (GRCm39) N170Y probably benign Het
Or5j3 A G 2: 86,128,733 (GRCm39) D191G probably damaging Het
Or8g34 T C 9: 39,373,512 (GRCm39) Y259H probably damaging Het
Panx2 A G 15: 88,954,024 (GRCm39) I660V probably benign Het
Pramel13 T C 4: 144,119,304 (GRCm39) E421G probably damaging Het
Prx C T 7: 27,215,654 (GRCm39) P52S probably damaging Het
Ptprf A G 4: 118,106,177 (GRCm39) S206P probably damaging Het
Rbm45 C T 2: 76,205,798 (GRCm39) P217S probably benign Het
Rfx6 A G 10: 51,594,226 (GRCm39) D382G probably damaging Het
Ric3 A G 7: 108,653,660 (GRCm39) F144L possibly damaging Het
Snx29 C T 16: 11,265,317 (GRCm39) R516W probably damaging Het
Trank1 T C 9: 111,221,551 (GRCm39) S2763P probably damaging Het
Vmn1r42 T C 6: 89,821,688 (GRCm39) M294V probably benign Het
Zfp467 C A 6: 48,416,010 (GRCm39) R214L possibly damaging Het
Zfp750 C A 11: 121,403,153 (GRCm39) A532S probably benign Het
Zscan4d G A 7: 10,896,614 (GRCm39) P252L probably benign Het
Other mutations in Dnajc27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02338:Dnajc27 APN 12 4,146,229 (GRCm39) missense probably damaging 1.00
IGL02888:Dnajc27 APN 12 4,139,186 (GRCm39) missense possibly damaging 0.47
R0101:Dnajc27 UTSW 12 4,139,142 (GRCm39) missense probably benign 0.05
R0304:Dnajc27 UTSW 12 4,156,793 (GRCm39) splice site probably benign
R2005:Dnajc27 UTSW 12 4,147,317 (GRCm39) missense possibly damaging 0.83
R6622:Dnajc27 UTSW 12 4,153,114 (GRCm39) missense probably benign 0.00
R6824:Dnajc27 UTSW 12 4,156,897 (GRCm39) missense possibly damaging 0.80
R7354:Dnajc27 UTSW 12 4,146,249 (GRCm39) missense probably benign
R7664:Dnajc27 UTSW 12 4,153,132 (GRCm39) missense possibly damaging 0.81
R7953:Dnajc27 UTSW 12 4,147,270 (GRCm39) missense possibly damaging 0.73
R8679:Dnajc27 UTSW 12 4,146,325 (GRCm39) missense possibly damaging 0.81
R9287:Dnajc27 UTSW 12 4,146,256 (GRCm39) missense possibly damaging 0.87
X0028:Dnajc27 UTSW 12 4,153,130 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ACTGAGATACAATAGTGAGTACTCC -3'
(R):5'- CCCTCATTATGCGTGCATGTG -3'

Sequencing Primer
(F):5'- GTTACTTAGTGACTGTGAGG -3'
(R):5'- GTGATTTCAGGCTGAGTCACATACC -3'
Posted On 2015-01-23