Incidental Mutation 'R9041:Dnajc19'
ID 687707
Institutional Source Beutler Lab
Gene Symbol Dnajc19
Ensembl Gene ENSMUSG00000027679
Gene Name DnaJ heat shock protein family (Hsp40) member C19
Synonyms 1810055D05Rik
MMRRC Submission 068868-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9041 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 34111429-34135503 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34134282 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 27 (K27R)
Ref Sequence ENSEMBL: ENSMUSP00000011029 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011029] [ENSMUST00000108195] [ENSMUST00000117223] [ENSMUST00000120805]
AlphaFold Q9CQV7
Predicted Effect probably damaging
Transcript: ENSMUST00000011029
AA Change: K27R

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000011029
Gene: ENSMUSG00000027679
AA Change: K27R

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
AA Change: K27R

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000103830
Gene: ENSMUSG00000027679
AA Change: K27R

DomainStartEndE-ValueType
transmembrane domain 4 23 N/A INTRINSIC
DnaJ 61 115 1.05e-7 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000117223
AA Change: K27R

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113484
Gene: ENSMUSG00000027679
AA Change: K27R

DomainStartEndE-ValueType
transmembrane domain 4 23 N/A INTRINSIC
DnaJ 61 109 2.01e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000120805
AA Change: K21R

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000113514
Gene: ENSMUSG00000027679
AA Change: K21R

DomainStartEndE-ValueType
DnaJ 55 109 1.05e-7 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (60/60)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik T C 10: 87,062,054 (GRCm39) I168T probably benign Het
Acvr2b G T 9: 119,257,052 (GRCm39) E94* probably null Het
Adcy8 A T 15: 64,609,287 (GRCm39) I874N probably benign Het
Ahcyl T G 16: 45,974,468 (GRCm39) D303A possibly damaging Het
Angptl1 G T 1: 156,685,999 (GRCm39) D362Y probably damaging Het
Arc A G 15: 74,543,896 (GRCm39) V109A probably damaging Het
Asphd2 T A 5: 112,539,768 (GRCm39) T22S probably benign Het
Caprin2 A T 6: 148,771,030 (GRCm39) N321K probably benign Het
Carmil1 T C 13: 24,282,793 (GRCm39) D547G possibly damaging Het
Cd38 G A 5: 44,058,899 (GRCm39) probably null Het
Cd3g A G 9: 44,884,818 (GRCm39) V142A possibly damaging Het
Chrna6 A T 8: 27,896,923 (GRCm39) I318N probably damaging Het
Cmah T C 13: 24,641,004 (GRCm39) probably null Het
Cmklr1 G C 5: 113,752,043 (GRCm39) H319Q probably benign Het
Cplx4 T C 18: 66,103,097 (GRCm39) M8V probably damaging Het
E2f3 C A 13: 30,093,939 (GRCm39) D441Y probably damaging Het
Erap1 A G 13: 74,822,818 (GRCm39) K777R probably benign Het
Fastkd1 C T 2: 69,532,715 (GRCm39) V551I probably benign Het
Fgd5 A G 6: 91,964,427 (GRCm39) E220G probably benign Het
Gal3st2 T C 1: 93,800,206 (GRCm39) V19A possibly damaging Het
Ghr T C 15: 3,357,530 (GRCm39) E246G probably benign Het
Gm10228 A T 16: 88,838,113 (GRCm39) Y64N unknown Het
Gsdmc4 T C 15: 63,774,586 (GRCm39) N65S probably benign Het
Heatr5b C A 17: 79,103,861 (GRCm39) A1105S probably benign Het
Hipk2 A T 6: 38,724,909 (GRCm39) L376* probably null Het
Il6st A G 13: 112,611,631 (GRCm39) T18A probably benign Het
Kif3b T C 2: 153,159,468 (GRCm39) I423T probably benign Het
Klf17 T C 4: 117,617,556 (GRCm39) Y267C probably damaging Het
Kntc1 A G 5: 123,927,093 (GRCm39) T1183A probably benign Het
Lrrc71 A G 3: 87,650,660 (GRCm39) S201P probably damaging Het
Mrgprb5 A T 7: 47,818,509 (GRCm39) D75E probably damaging Het
Myef2l T C 3: 10,157,353 (GRCm39) *499Q probably null Het
Myf6 A G 10: 107,329,225 (GRCm39) V240A probably benign Het
Ncoa6 T C 2: 155,257,450 (GRCm39) M698V possibly damaging Het
Nox4 G A 7: 87,025,448 (GRCm39) R525Q probably benign Het
Nynrin T C 14: 56,108,753 (GRCm39) S1287P possibly damaging Het
Or10ab5 A G 7: 108,245,589 (GRCm39) S65P probably damaging Het
Otud4 T A 8: 80,400,441 (GRCm39) S1052T probably damaging Het
Pcsk5 A T 19: 17,538,132 (GRCm39) C898* probably null Het
Pdcd1 T C 1: 93,969,091 (GRCm39) T76A probably benign Het
Plin2 T A 4: 86,578,504 (GRCm39) M198L probably benign Het
Prmt7 T A 8: 106,963,460 (GRCm39) V180D possibly damaging Het
R3hdm2 T C 10: 127,320,405 (GRCm39) Y549H probably damaging Het
Rad54l2 A G 9: 106,600,018 (GRCm39) S80P possibly damaging Het
Ryr3 T A 2: 112,787,546 (GRCm39) E235D probably damaging Het
Scart1 T C 7: 139,808,503 (GRCm39) C805R probably damaging Het
Serpina9 A T 12: 103,967,737 (GRCm39) S219R Het
Sesn2 G A 4: 132,225,272 (GRCm39) T298I probably benign Het
Sf3b2 A T 19: 5,324,872 (GRCm39) V838E possibly damaging Het
Sfpq C A 4: 126,915,296 (GRCm39) H29Q unknown Het
Smchd1 A G 17: 71,701,710 (GRCm39) probably null Het
Sprr1b A G 3: 92,344,477 (GRCm39) V133A probably benign Het
Srgap3 T C 6: 112,754,054 (GRCm39) Y243C probably damaging Het
Thop1 C T 10: 80,917,228 (GRCm39) A577V possibly damaging Het
Tmprss3 T A 17: 31,410,014 (GRCm39) D200V probably benign Het
Treh A T 9: 44,596,677 (GRCm39) K512M probably damaging Het
Trip11 A G 12: 101,845,127 (GRCm39) V1537A probably benign Het
Trp63 A G 16: 25,582,083 (GRCm39) T44A probably benign Het
Vmn1r225 T A 17: 20,722,577 (GRCm39) M6K possibly damaging Het
Vmn2r90 A C 17: 17,954,286 (GRCm39) M817L probably benign Het
Zfp68 A T 5: 138,604,699 (GRCm39) Y541* probably null Het
Other mutations in Dnajc19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02071:Dnajc19 APN 3 34,132,914 (GRCm39) missense possibly damaging 0.81
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
Predicted Primers PCR Primer
(F):5'- TGTGAAAACCAACTCCCAGTG -3'
(R):5'- AATGAGTTTGGCTGCGGAATAG -3'

Sequencing Primer
(F):5'- AGTGTGGCCCATTGCAAG -3'
(R):5'- GAGTAGTAAAGACTTGCTCTTCTCC -3'
Posted On 2021-11-19