Incidental Mutation 'IGL01321:Dnajc21'
ID74059
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnajc21
Ensembl Gene ENSMUSG00000044224
Gene NameDnaJ heat shock protein family (Hsp40) member C21
Synonyms9930116P15Rik, 4930461P20Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.203) question?
Stock #IGL01321
Quality Score
Status
Chromosome15
Chromosomal Location10446756-10470516 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 10447102 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glycine at position 520 (V520G)
Ref Sequence ENSEMBL: ENSMUSP00000116865 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000136591]
Predicted Effect probably benign
Transcript: ENSMUST00000136591
AA Change: V520G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000116865
Gene: ENSMUSG00000044224
AA Change: V520G

DomainStartEndE-ValueType
DnaJ 2 61 7.2e-29 SMART
coiled coil region 178 283 N/A INTRINSIC
ZnF_U1 311 345 5.3e-8 SMART
ZnF_C2H2 314 338 1.67e-2 SMART
low complexity region 379 393 N/A INTRINSIC
low complexity region 452 470 N/A INTRINSIC
ZnF_C2H2 483 507 5.34e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145719
SMART Domains Protein: ENSMUSP00000116192
Gene: ENSMUSG00000044224

DomainStartEndE-ValueType
coiled coil region 26 131 N/A INTRINSIC
ZnF_U1 160 194 5.3e-8 SMART
ZnF_C2H2 163 187 1.67e-2 SMART
low complexity region 228 242 N/A INTRINSIC
low complexity region 301 319 N/A INTRINSIC
ZnF_C2H2 332 356 5.34e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146323
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150878
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the DNAJ heat shock protein 40 family of proteins that is characterized by two N-terminal tetratricopeptide repeat domains and a C-terminal DNAJ domain. This protein binds the precursor 45S ribosomal RNA and may be involved in early nuclear ribosomal RNA biogenesis and maturation of the 60S ribosomal subunit. Mutations in this gene result in Bone marrow failure syndrome 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2017]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610009B22Rik A T 11: 51,685,843 V76D probably damaging Het
Acnat2 A G 4: 49,380,269 S370P probably damaging Het
Adamts5 T C 16: 85,899,475 R265G probably benign Het
Cd2ap T C 17: 42,845,389 S86G possibly damaging Het
Cers3 A C 7: 66,786,003 probably benign Het
Dnaaf2 G T 12: 69,196,602 P562T probably damaging Het
Dpcr1 A T 17: 35,636,866 N490K probably damaging Het
Dync1h1 A G 12: 110,625,607 probably benign Het
Extl3 T C 14: 65,066,762 N733D probably benign Het
Gm5499 T A 17: 87,078,500 noncoding transcript Het
Gstm6 T C 3: 107,941,063 Q180R probably benign Het
Hdlbp G A 1: 93,423,802 R460W probably damaging Het
Ift81 T C 5: 122,610,968 D40G probably damaging Het
Igsf3 T A 3: 101,427,022 probably benign Het
Kcnb2 A G 1: 15,312,923 T158A probably benign Het
Lrrc59 C T 11: 94,638,600 R167* probably null Het
Macf1 A G 4: 123,440,774 C4397R probably damaging Het
Morc1 T C 16: 48,582,462 S583P probably benign Het
Nipsnap2 T A 5: 129,757,141 *282R probably null Het
Olfr1160 A T 2: 88,006,245 C178S probably damaging Het
Olfr703 T C 7: 106,844,749 L46P probably damaging Het
Parp14 T A 16: 35,856,559 Q1013L probably benign Het
Pdzd8 A C 19: 59,301,529 S480A probably benign Het
Piezo1 A T 8: 122,487,600 S1609R probably damaging Het
Pkp4 G A 2: 59,350,627 probably null Het
Plpp2 A T 10: 79,527,493 V106D probably damaging Het
Rimbp2 T C 5: 128,786,752 Y724C probably benign Het
Rpgrip1l A T 8: 91,260,873 L852* probably null Het
Samd9l T A 6: 3,376,259 D334V probably benign Het
Sipa1l2 G A 8: 125,491,518 T360M probably damaging Het
Slc30a2 A T 4: 134,343,300 D5V probably damaging Het
Spata31 T C 13: 64,921,754 I572T probably benign Het
Tma16 G A 8: 66,476,860 L161F probably benign Het
Trim69 A T 2: 122,173,284 E238V possibly damaging Het
Zfhx4 A G 3: 5,242,328 T205A probably benign Het
Other mutations in Dnajc21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02797:Dnajc21 APN 15 10461355 missense probably damaging 0.96
R0032:Dnajc21 UTSW 15 10461877 missense probably benign 0.32
R0032:Dnajc21 UTSW 15 10461877 missense probably benign 0.32
R1480:Dnajc21 UTSW 15 10459951 splice site probably null
R1694:Dnajc21 UTSW 15 10451563 missense probably benign 0.00
R1777:Dnajc21 UTSW 15 10449607 missense probably benign 0.00
R2420:Dnajc21 UTSW 15 10461935 missense probably benign 0.00
R2421:Dnajc21 UTSW 15 10461935 missense probably benign 0.00
R2422:Dnajc21 UTSW 15 10461935 missense probably benign 0.00
R4065:Dnajc21 UTSW 15 10451553 critical splice donor site probably null
R4182:Dnajc21 UTSW 15 10459933 intron probably null
R4546:Dnajc21 UTSW 15 10447097 missense probably benign 0.01
R4644:Dnajc21 UTSW 15 10463917 missense possibly damaging 0.89
R4939:Dnajc21 UTSW 15 10449597 missense probably damaging 0.96
R5075:Dnajc21 UTSW 15 10461877 missense probably benign 0.32
R5187:Dnajc21 UTSW 15 10463964 missense probably benign 0.21
R5273:Dnajc21 UTSW 15 10454807 missense probably damaging 1.00
R5590:Dnajc21 UTSW 15 10462277 missense possibly damaging 0.92
R5643:Dnajc21 UTSW 15 10461915 missense probably benign
R5644:Dnajc21 UTSW 15 10461915 missense probably benign
R5729:Dnajc21 UTSW 15 10449596 missense probably benign 0.01
R6614:Dnajc21 UTSW 15 10470263 critical splice donor site probably null
R6815:Dnajc21 UTSW 15 10447691 splice site probably null
R7016:Dnajc21 UTSW 15 10461407 nonsense probably null
R7076:Dnajc21 UTSW 15 10449631 missense probably benign
R7584:Dnajc21 UTSW 15 10462295 nonsense probably null
R7624:Dnajc21 UTSW 15 10461232 missense probably benign 0.07
R7624:Dnajc21 UTSW 15 10461234 missense probably damaging 0.98
R7676:Dnajc21 UTSW 15 10462344 missense possibly damaging 0.95
R7788:Dnajc21 UTSW 15 10460047 missense probably damaging 1.00
R7845:Dnajc21 UTSW 15 10447141 missense probably damaging 1.00
R7928:Dnajc21 UTSW 15 10447141 missense probably damaging 1.00
Posted On2013-10-07