Incidental Mutation 'R3077:Dnajc8'
ID 265246
Institutional Source Beutler Lab
Gene Symbol Dnajc8
Ensembl Gene ENSMUSG00000054405
Gene Name DnaJ heat shock protein family (Hsp40) member C8
Synonyms 1110021D09Rik, 2010009J04Rik
MMRRC Submission 040567-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3077 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 132262861-132281053 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 132271974 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 70 (D70G)
Ref Sequence ENSEMBL: ENSMUSP00000101559 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067467] [ENSMUST00000094657] [ENSMUST00000105939] [ENSMUST00000105940] [ENSMUST00000138334] [ENSMUST00000144073] [ENSMUST00000139074]
AlphaFold Q6NZB0
Predicted Effect probably benign
Transcript: ENSMUST00000067467
SMART Domains Protein: ENSMUSP00000068069
Gene: ENSMUSG00000054405

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
SCOP:d1repc1 23 79 4e-5 SMART
Blast:DnaJ 56 79 6e-9 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083689
Predicted Effect possibly damaging
Transcript: ENSMUST00000094657
AA Change: D104G

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000092242
Gene: ENSMUSG00000054405
AA Change: D104G

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
DnaJ 56 115 2.65e-18 SMART
low complexity region 135 146 N/A INTRINSIC
coiled coil region 164 210 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000105938
Predicted Effect probably damaging
Transcript: ENSMUST00000105939
AA Change: D70G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101559
Gene: ENSMUSG00000054405
AA Change: D70G

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
DnaJ 22 81 2.09e-16 SMART
low complexity region 101 112 N/A INTRINSIC
coiled coil region 130 176 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000105940
AA Change: D85G

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000101560
Gene: ENSMUSG00000054405
AA Change: D85G

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
DnaJ 56 96 2.15e-1 SMART
low complexity region 116 127 N/A INTRINSIC
coiled coil region 145 191 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000138334
SMART Domains Protein: ENSMUSP00000130135
Gene: ENSMUSG00000054405

DomainStartEndE-ValueType
DnaJ 38 84 4.42e-6 SMART
Predicted Effect unknown
Transcript: ENSMUST00000150207
AA Change: D79G
SMART Domains Protein: ENSMUSP00000121009
Gene: ENSMUSG00000054405
AA Change: D79G

DomainStartEndE-ValueType
DnaJ 32 91 2.65e-18 SMART
low complexity region 111 122 N/A INTRINSIC
low complexity region 178 190 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142281
Predicted Effect probably benign
Transcript: ENSMUST00000144073
SMART Domains Protein: ENSMUSP00000131575
Gene: ENSMUSG00000054405

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000139074
Predicted Effect probably benign
Transcript: ENSMUST00000156385
SMART Domains Protein: ENSMUSP00000125885
Gene: ENSMUSG00000054405

DomainStartEndE-ValueType
coiled coil region 23 69 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,306,764 (GRCm39) I1981V probably benign Het
Adgrd1 A T 5: 129,206,169 (GRCm39) I248F probably benign Het
Arfgef3 T C 10: 18,479,278 (GRCm39) I1446V probably damaging Het
Cabcoco1 T G 10: 68,361,475 (GRCm39) Y8S possibly damaging Het
Champ1 T C 8: 13,928,832 (GRCm39) V330A probably benign Het
Kif14 T G 1: 136,447,383 (GRCm39) I1396S possibly damaging Het
Mnt G C 11: 74,733,936 (GRCm39) probably benign Het
Nhsl2 C T X: 101,121,201 (GRCm39) R62W probably damaging Het
Or1e29 G A 11: 73,667,466 (GRCm39) P229L possibly damaging Het
Or51a7 G T 7: 102,615,223 (GRCm39) K305N probably benign Het
Pcdhb11 C T 18: 37,555,297 (GRCm39) T209I probably benign Het
Pdzd8 A G 19: 59,293,588 (GRCm39) probably null Het
Phactr4 A G 4: 132,125,307 (GRCm39) M1T probably null Het
Pwwp2a A G 11: 43,596,212 (GRCm39) N184S probably damaging Het
Shprh T C 10: 11,046,157 (GRCm39) V958A probably damaging Het
Smc3 A G 19: 53,616,322 (GRCm39) E449G probably benign Het
Snap91 T A 9: 86,720,907 (GRCm39) Y96F possibly damaging Het
Trim34b A G 7: 103,980,508 (GRCm39) R199G possibly damaging Het
Unc45a A C 7: 79,988,680 (GRCm39) V112G probably damaging Het
Vwa8 A T 14: 79,335,782 (GRCm39) N1413Y probably benign Het
Zcchc9 A T 13: 91,954,101 (GRCm39) N51K probably benign Het
Zfp628 A G 7: 4,924,199 (GRCm39) E807G possibly damaging Het
Zfp647 A T 15: 76,802,209 (GRCm39) M1K probably null Het
Other mutations in Dnajc8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03211:Dnajc8 APN 4 132,272,048 (GRCm39) missense possibly damaging 0.95
pith UTSW 4 132,272,031 (GRCm39) missense probably damaging 0.98
R2130:Dnajc8 UTSW 4 132,271,370 (GRCm39) missense possibly damaging 0.95
R5621:Dnajc8 UTSW 4 132,280,563 (GRCm39) unclassified probably benign
R6921:Dnajc8 UTSW 4 132,272,031 (GRCm39) missense probably damaging 0.98
R6925:Dnajc8 UTSW 4 132,271,424 (GRCm39) missense probably damaging 0.99
R7255:Dnajc8 UTSW 4 132,278,884 (GRCm39) missense probably benign 0.20
R8054:Dnajc8 UTSW 4 132,272,068 (GRCm39) unclassified probably benign
R8243:Dnajc8 UTSW 4 132,278,775 (GRCm39) splice site probably null
R9779:Dnajc8 UTSW 4 132,277,737 (GRCm39) missense possibly damaging 0.89
Predicted Primers PCR Primer
(F):5'- AGACTTTCAAGGTCATTGCTATGG -3'
(R):5'- GCAGCACAGCTAACCGATAG -3'

Sequencing Primer
(F):5'- CAAGGTCATTGCTATGGTTGTATGC -3'
(R):5'- AATGACCAGTGGTTTGCACTGC -3'
Posted On 2015-02-05