Incidental Mutation 'IGL01107:Dnajc4'
List |< first << previous [record 9 of 33] next >> last >|
ID53255
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnajc4
Ensembl Gene ENSMUSG00000024963
Gene NameDnaJ heat shock protein family (Hsp40) member C4
SynonymsHspf2, 2010301J22Rik, Mcg18
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.068) question?
Stock #IGL01107
Quality Score
Status
Chromosome19
Chromosomal Location6987911-6992503 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 6989501 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 153 (R153H)
Ref Sequence ENSEMBL: ENSMUSP00000136062 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025914] [ENSMUST00000025915] [ENSMUST00000041686] [ENSMUST00000130048] [ENSMUST00000179118] [ENSMUST00000180765]
Predicted Effect probably benign
Transcript: ENSMUST00000025914
SMART Domains Protein: ENSMUSP00000025914
Gene: ENSMUSG00000024962

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
PDGF 45 126 1.11e-44 SMART
low complexity region 182 207 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000025915
AA Change: R154H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025915
Gene: ENSMUSG00000024963
AA Change: R154H

DomainStartEndE-ValueType
low complexity region 4 15 N/A INTRINSIC
DnaJ 36 94 9.97e-23 SMART
transmembrane domain 160 179 N/A INTRINSIC
low complexity region 205 227 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000041686
SMART Domains Protein: ENSMUSP00000041419
Gene: ENSMUSG00000037349

DomainStartEndE-ValueType
low complexity region 7 16 N/A INTRINSIC
low complexity region 195 206 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000130048
SMART Domains Protein: ENSMUSP00000120860
Gene: ENSMUSG00000024962

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
PDGF 45 126 1.11e-44 SMART
Pfam:VEGF_C 134 188 1.3e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147924
Predicted Effect probably benign
Transcript: ENSMUST00000179118
AA Change: R153H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000136062
Gene: ENSMUSG00000024963
AA Change: R153H

DomainStartEndE-ValueType
low complexity region 4 15 N/A INTRINSIC
DnaJ 36 94 9.97e-23 SMART
transmembrane domain 159 178 N/A INTRINSIC
low complexity region 204 226 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180762
Predicted Effect probably benign
Transcript: ENSMUST00000180765
SMART Domains Protein: ENSMUSP00000137738
Gene: ENSMUSG00000037349

DomainStartEndE-ValueType
low complexity region 7 16 N/A INTRINSIC
low complexity region 195 206 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001O22Rik A T 2: 30,797,936 F215Y probably damaging Het
2700049A03Rik T C 12: 71,194,468 probably null Het
Akip1 C T 7: 109,711,838 T195M probably damaging Het
Arhgef16 T C 4: 154,280,244 N631S probably benign Het
Brat1 C T 5: 140,717,177 S544L probably damaging Het
Cfap65 C T 1: 74,919,183 probably null Het
D17Wsu92e A T 17: 27,786,069 probably null Het
Defa22 T A 8: 21,163,037 probably null Het
Dusp11 A G 6: 85,952,370 probably benign Het
E2f4 T A 8: 105,304,177 probably benign Het
Ece1 T A 4: 137,938,658 L271Q probably damaging Het
Fcgrt T C 7: 45,093,328 D343G probably damaging Het
Igsf10 T C 3: 59,331,524 E412G probably damaging Het
Il4ra G T 7: 125,575,914 L431F possibly damaging Het
Krt86 T A 15: 101,475,425 L200Q probably damaging Het
Lpcat1 T A 13: 73,494,828 F126I probably damaging Het
Prag1 A G 8: 36,099,931 T79A probably benign Het
Pramef12 A T 4: 144,393,094 I301N probably benign Het
Psg29 G T 7: 17,204,925 L41F probably benign Het
Rai14 C T 15: 10,599,711 probably benign Het
Reg3a A G 6: 78,383,245 D136G probably benign Het
Rif1 A G 2: 52,111,303 T1590A probably benign Het
Rorb A T 19: 18,957,328 L300* probably null Het
Sin3b T C 8: 72,731,105 C150R possibly damaging Het
Smarcc1 C A 9: 110,221,937 H942N probably damaging Het
Tas2r105 A G 6: 131,687,111 V118A probably benign Het
Tmem131 T C 1: 36,829,581 S388G probably damaging Het
Ttll9 C A 2: 153,002,889 probably benign Het
Ush1c A G 7: 46,209,901 L498P probably damaging Het
Vmn2r100 A G 17: 19,521,356 Y110C probably damaging Het
Zbtb11 T C 16: 56,006,007 Y800H probably damaging Het
Zdhhc20 T A 14: 57,865,589 E101V probably damaging Het
Other mutations in Dnajc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02500:Dnajc4 APN 19 6988088 missense possibly damaging 0.72
IGL02930:Dnajc4 APN 19 6989433 missense possibly damaging 0.92
BB009:Dnajc4 UTSW 19 6988270 missense probably damaging 1.00
BB019:Dnajc4 UTSW 19 6988270 missense probably damaging 1.00
R2509:Dnajc4 UTSW 19 6990743 missense probably damaging 1.00
R4157:Dnajc4 UTSW 19 6989840 missense probably damaging 1.00
R4747:Dnajc4 UTSW 19 6989504 missense probably damaging 0.99
R6060:Dnajc4 UTSW 19 6990725 nonsense probably null
R7932:Dnajc4 UTSW 19 6988270 missense probably damaging 1.00
R8752:Dnajc4 UTSW 19 6989433 missense probably benign 0.08
Posted On2013-06-21