Incidental Mutation 'R6921:Dnajc8'
ID 539630
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 045006-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6921 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 132262861-132281053 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 132272031 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 89 (I89N)
Ref Sequence ENSEMBL: ENSMUSP00000101559 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067467] [ENSMUST00000094657] [ENSMUST00000105939] [ENSMUST00000105940] [ENSMUST00000138334] [ENSMUST00000139074] [ENSMUST00000144073]
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 probably damaging
Transcript: ENSMUST00000094657
AA Change: I123N

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000092242
Gene: ENSMUSG00000054405
AA Change: I123N

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 probably damaging
Transcript: ENSMUST00000105939
AA Change: I89N

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101559
Gene: ENSMUSG00000054405
AA Change: I89N

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: I104N

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101560
Gene: ENSMUSG00000054405
AA Change: I104N

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 probably benign
Transcript: ENSMUST00000139074
Predicted Effect probably benign
Transcript: ENSMUST00000144073
SMART Domains Protein: ENSMUSP00000131575
Gene: ENSMUSG00000054405

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
Predicted Effect
SMART Domains Protein: ENSMUSP00000121009
Gene: ENSMUSG00000054405
AA Change: I98N

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 probably benign
Transcript: ENSMUST00000156385
SMART Domains Protein: ENSMUSP00000125885
Gene: ENSMUSG00000054405

DomainStartEndE-ValueType
coiled coil region 23 69 N/A INTRINSIC
Meta Mutation Damage Score 0.3519 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 98.9%
  • 20x: 96.4%
Validation Efficiency 96% (46/48)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A T 9: 57,166,019 (GRCm39) H118Q probably damaging Het
Adgrl3 T G 5: 81,796,560 (GRCm39) V623G probably damaging Het
B9d2 A G 7: 25,385,442 (GRCm39) D84G probably damaging Het
Clec1a A T 6: 129,405,827 (GRCm39) L268H probably damaging Het
Copa A T 1: 171,939,491 (GRCm39) N576I possibly damaging Het
Cyp11b1 T C 15: 74,712,798 (GRCm39) T88A probably benign Het
Dis3l2 T C 1: 86,785,063 (GRCm39) I318T probably benign Het
Dmtf1 T C 5: 9,180,654 (GRCm39) probably benign Het
Dnah17 C A 11: 117,932,310 (GRCm39) A3639S probably damaging Het
Dync2h1 T A 9: 7,102,549 (GRCm39) H377L probably benign Het
Erfe T A 1: 91,298,054 (GRCm39) I212N probably benign Het
Fam117b A G 1: 59,992,094 (GRCm39) T248A probably damaging Het
Fbxo10 A T 4: 45,044,849 (GRCm39) N595K probably damaging Het
Fzd10 T A 5: 128,678,646 (GRCm39) M122K probably damaging Het
Gpr15 C T 16: 58,538,144 (GRCm39) R315H probably benign Het
Gvin2 G A 7: 105,551,187 (GRCm39) Q622* probably null Het
H6pd T C 4: 150,066,508 (GRCm39) D626G probably damaging Het
Hexd A G 11: 121,113,107 (GRCm39) D514G probably damaging Het
Hoxd4 T C 2: 74,558,836 (GRCm39) S220P possibly damaging Het
Invs A G 4: 48,396,260 (GRCm39) H311R possibly damaging Het
Ip6k1 A G 9: 107,901,634 (GRCm39) T70A probably damaging Het
Lipt2 T C 7: 99,809,578 (GRCm39) C222R probably damaging Het
Lrrc3 T A 10: 77,736,866 (GRCm39) D190V probably damaging Het
Marchf10 T C 11: 105,280,603 (GRCm39) T561A probably benign Het
Mcm10 G A 2: 5,005,746 (GRCm39) T463I probably benign Het
Mideas A G 12: 84,203,233 (GRCm39) S890P probably damaging Het
Mmel1 T C 4: 154,966,134 (GRCm39) L52P probably damaging Het
Nipbl T C 15: 8,332,969 (GRCm39) N2218S probably benign Het
Nr4a3 C T 4: 48,051,486 (GRCm39) P80L probably benign Het
Nrip1 C T 16: 76,089,476 (GRCm39) G694R possibly damaging Het
Oit3 A T 10: 59,271,767 (GRCm39) C197S probably damaging Het
Or5al1 C T 2: 85,990,196 (GRCm39) V173M probably benign Het
Or8b1b A G 9: 38,375,543 (GRCm39) I69V probably benign Het
Otol1 A G 3: 69,935,433 (GRCm39) E475G possibly damaging Het
Pes1 T C 11: 3,923,330 (GRCm39) F168L probably damaging Het
Plch1 C T 3: 63,615,155 (GRCm39) R780H possibly damaging Het
Pxdn C G 12: 30,065,504 (GRCm39) P1275A probably damaging Het
Sgcz T C 8: 37,993,443 (GRCm39) E218G probably damaging Het
Slc27a5 A T 7: 12,725,135 (GRCm39) N437K probably damaging Het
Sult2b1 A G 7: 45,384,612 (GRCm39) S155P probably damaging Het
Tgfbrap1 T C 1: 43,091,056 (GRCm39) M690V probably benign Het
Tmem151a A T 19: 5,133,119 (GRCm39) L29Q probably damaging Het
Tmprss2 A G 16: 97,369,637 (GRCm39) I379T probably damaging Het
Vmn1r168 T A 7: 23,240,323 (GRCm39) V60E probably damaging Het
Vmn2r73 A C 7: 85,507,446 (GRCm39) V622G probably benign Het
Wdr72 A G 9: 74,117,928 (GRCm39) H880R probably benign Het
Zfhx3 A G 8: 109,678,024 (GRCm39) T3025A possibly damaging 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
R3077:Dnajc8 UTSW 4 132,271,974 (GRCm39) missense probably damaging 1.00
R5621:Dnajc8 UTSW 4 132,280,563 (GRCm39) unclassified probably benign
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'- CAAGGTCATTGCTATGGTTGTATGC -3'
(R):5'- TTTGGGCACTCTTCCTGAGC -3'

Sequencing Primer
(F):5'- AGCTCAGACTTTGAGAGG -3'
(R):5'- TCTTCCTGAGCAGCACAGC -3'
Posted On 2018-11-06