Incidental Mutation 'IGL02071:Dnajc19'
ID 185836
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnajc19
Ensembl Gene ENSMUSG00000027679
Gene Name DnaJ heat shock protein family (Hsp40) member C19
Synonyms 1810055D05Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02071
Quality Score
Status
Chromosome 3
Chromosomal Location 34111429-34135503 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34132914 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 97 (L97P)
Ref Sequence ENSEMBL: ENSMUSP00000113484 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011029] [ENSMUST00000108195] [ENSMUST00000117223] [ENSMUST00000120805]
AlphaFold Q9CQV7
Predicted Effect probably benign
Transcript: ENSMUST00000011029
SMART Domains Protein: ENSMUSP00000011029
Gene: ENSMUSG00000027679

DomainStartEndE-ValueType
transmembrane domain 4 23 N/A INTRINSIC
DnaJ 61 101 1.31e-1 SMART
low complexity region 106 124 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108195
SMART Domains Protein: ENSMUSP00000103830
Gene: ENSMUSG00000027679

DomainStartEndE-ValueType
transmembrane domain 4 23 N/A INTRINSIC
DnaJ 61 115 1.05e-7 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000117223
AA Change: L97P

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000113484
Gene: ENSMUSG00000027679
AA Change: L97P

DomainStartEndE-ValueType
transmembrane domain 4 23 N/A INTRINSIC
DnaJ 61 109 2.01e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000120805
SMART Domains Protein: ENSMUSP00000113514
Gene: ENSMUSG00000027679

DomainStartEndE-ValueType
DnaJ 55 109 1.05e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197014
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197111
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat C T 16: 8,400,676 (GRCm39) R92C probably damaging Het
Adam29 C A 8: 56,324,589 (GRCm39) V622L possibly damaging Het
Bzw2 T C 12: 36,157,502 (GRCm39) H321R probably benign Het
C2cd2 C T 16: 97,671,432 (GRCm39) R489Q probably damaging Het
Cdh23 G A 10: 60,359,339 (GRCm39) T253I possibly damaging Het
Col4a3 T G 1: 82,638,608 (GRCm39) probably null Het
D630039A03Rik T C 4: 57,910,309 (GRCm39) T168A possibly damaging Het
Dpep2 A T 8: 106,711,776 (GRCm39) H550Q probably benign Het
Dvl2 C A 11: 69,895,626 (GRCm39) probably null Het
Fam234b A G 6: 135,204,149 (GRCm39) probably null Het
Fxyd5 A G 7: 30,739,613 (GRCm39) V32A possibly damaging Het
Itprid1 C A 6: 55,944,710 (GRCm39) S477* probably null Het
Mak16 A T 8: 31,650,557 (GRCm39) S251T probably benign Het
Med10 T C 13: 69,963,747 (GRCm39) V116A probably benign Het
Mycbp2 G A 14: 103,392,343 (GRCm39) R50* probably null Het
Nckap5 G A 1: 125,909,305 (GRCm39) P272L probably damaging Het
Nf1 T A 11: 79,334,947 (GRCm39) V933E possibly damaging Het
Nrxn2 T A 19: 6,531,783 (GRCm39) V749E probably damaging Het
Or51e2 A C 7: 102,391,355 (GRCm39) V285G probably damaging Het
Or5al1 C A 2: 85,990,219 (GRCm39) R165L probably benign Het
Osbpl9 T C 4: 108,929,176 (GRCm39) Y417C probably damaging Het
Otop1 G A 5: 38,445,327 (GRCm39) A162T probably damaging Het
Patl1 C A 19: 11,917,054 (GRCm39) P634T probably damaging Het
Ppl A T 16: 4,930,936 (GRCm39) S28T probably benign Het
Prkar2b C T 12: 32,013,016 (GRCm39) G367R probably damaging Het
Rbl2 G A 8: 91,828,826 (GRCm39) V576I probably damaging Het
Rgl3 C T 9: 21,899,559 (GRCm39) A53T probably benign Het
Rp1 T A 1: 4,415,533 (GRCm39) I1860F possibly damaging Het
Sbno2 A T 10: 79,896,475 (GRCm39) D877E probably damaging Het
Sectm1b C T 11: 120,946,761 (GRCm39) V45I probably damaging Het
Sfmbt2 G A 2: 10,582,763 (GRCm39) V741I probably benign Het
Sugt1 T A 14: 79,847,723 (GRCm39) L191* probably null Het
Tcf21 A T 10: 22,693,709 (GRCm39) V156E possibly damaging Het
Tep1 T A 14: 51,071,506 (GRCm39) R2046S possibly damaging Het
Tmem181a T C 17: 6,347,531 (GRCm39) F241S probably damaging Het
Traf6 G A 2: 101,527,138 (GRCm39) C296Y probably benign Het
Trim40 A G 17: 37,200,070 (GRCm39) S3P probably benign Het
Ttll2 A T 17: 7,619,130 (GRCm39) Y266N probably damaging Het
Vps54 A G 11: 21,225,071 (GRCm39) N177S probably null Het
Other mutations in Dnajc19
AlleleSourceChrCoordTypePredicted EffectPPH Score
FR4976:Dnajc19 UTSW 3 34,112,143 (GRCm39) frame shift probably null
IGL03134:Dnajc19 UTSW 3 34,132,884 (GRCm39) intron probably benign
R1344:Dnajc19 UTSW 3 34,112,161 (GRCm39) missense probably damaging 0.97
R1446:Dnajc19 UTSW 3 34,112,128 (GRCm39) missense probably benign 0.00
R3703:Dnajc19 UTSW 3 34,134,378 (GRCm39) critical splice donor site probably null
R3705:Dnajc19 UTSW 3 34,134,378 (GRCm39) critical splice donor site probably null
R5234:Dnajc19 UTSW 3 34,112,108 (GRCm39) missense probably benign 0.00
R8966:Dnajc19 UTSW 3 34,132,893 (GRCm39) missense unknown
R9041:Dnajc19 UTSW 3 34,134,282 (GRCm39) missense probably damaging 0.99
Posted On 2014-05-07