Incidental Mutation 'IGL00649:Dnase1'
ID 10252
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnase1
Ensembl Gene ENSMUSG00000005980
Gene Name deoxyribonuclease I
Synonyms Dnl1, DNaseI
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.379) question?
Stock # IGL00649
Quality Score
Status
Chromosome 16
Chromosomal Location 3855007-3857888 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3856888 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 173 (Y173C)
Ref Sequence ENSEMBL: ENSMUSP00000119934 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006136] [ENSMUST00000006137] [ENSMUST00000120009] [ENSMUST00000137748] [ENSMUST00000177337] [ENSMUST00000175755] [ENSMUST00000157044]
AlphaFold P49183
Predicted Effect probably damaging
Transcript: ENSMUST00000006136
AA Change: Y173C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006136
Gene: ENSMUSG00000005980
AA Change: Y173C

DomainStartEndE-ValueType
DNaseIc 6 282 5.04e-220 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000006137
SMART Domains Protein: ENSMUSP00000006137
Gene: ENSMUSG00000005981

DomainStartEndE-ValueType
HATPase_c 110 263 3.68e-3 SMART
Pfam:HSP90 290 706 2.6e-98 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000120009
AA Change: Y173C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113119
Gene: ENSMUSG00000005980
AA Change: Y173C

DomainStartEndE-ValueType
DNaseIc 6 282 5.04e-220 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125961
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132466
Predicted Effect probably damaging
Transcript: ENSMUST00000137748
AA Change: Y173C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119934
Gene: ENSMUSG00000005980
AA Change: Y173C

DomainStartEndE-ValueType
DNaseIc 6 225 7.51e-146 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137945
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176642
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139334
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144792
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150906
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149670
Predicted Effect probably benign
Transcript: ENSMUST00000177337
SMART Domains Protein: ENSMUSP00000135442
Gene: ENSMUSG00000005980

DomainStartEndE-ValueType
DNaseIc 6 200 6.86e-67 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000175755
SMART Domains Protein: ENSMUSP00000135060
Gene: ENSMUSG00000005980

DomainStartEndE-ValueType
SCOP:d2dnja_ 1 52 3e-9 SMART
Blast:DNaseIc 1 61 2e-31 BLAST
PDB:3W3D|B 1 61 5e-27 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000157044
SMART Domains Protein: ENSMUSP00000120642
Gene: ENSMUSG00000005980

DomainStartEndE-ValueType
DNaseIc 6 70 4.5e-5 SMART
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 DNase family. This protein is stored in the zymogen granules of the nuclear envelope and functions by cleaving DNA in an endonucleolytic manner. At least six autosomal codominant alleles have been characterized, DNASE1*1 through DNASE1*6, and the sequence of DNASE1*2 represented in this record. Mutations in this gene have been associated with systemic lupus erythematosus (SLE), an autoimmune disease. A recombinant form of this protein is used to treat the one of the symptoms of cystic fibrosis by hydrolyzing the extracellular DNA in sputum and reducing its viscosity. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Some heterozygote and homozygote null mice have autoimmune symptoms similar to systemic lupus erythematosus. These include enlarged lymph nodes, circulating auto-antibodies, kidney inflammation and premature death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 4 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp10a A G 7: 58,444,230 (GRCm39) T536A probably benign Het
Catsper2 T A 2: 121,228,373 (GRCm39) probably benign Het
Nup214 T A 2: 31,896,733 (GRCm39) F817L probably benign Het
Stag1 A T 9: 100,658,861 (GRCm39) R149S probably damaging Het
Other mutations in Dnase1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00896:Dnase1 APN 16 3,857,076 (GRCm39) missense probably benign 0.00
IGL00983:Dnase1 APN 16 3,857,417 (GRCm39) missense possibly damaging 0.70
IGL02186:Dnase1 APN 16 3,856,896 (GRCm39) missense probably benign 0.18
IGL03373:Dnase1 APN 16 3,857,707 (GRCm39) missense probably damaging 1.00
R0009:Dnase1 UTSW 16 3,856,810 (GRCm39) missense probably damaging 1.00
R0009:Dnase1 UTSW 16 3,856,810 (GRCm39) missense probably damaging 1.00
R0355:Dnase1 UTSW 16 3,857,413 (GRCm39) missense probably damaging 1.00
R0467:Dnase1 UTSW 16 3,857,013 (GRCm39) missense probably damaging 1.00
R4964:Dnase1 UTSW 16 3,855,771 (GRCm39) intron probably benign
R4966:Dnase1 UTSW 16 3,855,771 (GRCm39) intron probably benign
R5014:Dnase1 UTSW 16 3,856,880 (GRCm39) nonsense probably null
R5621:Dnase1 UTSW 16 3,856,982 (GRCm39) missense probably benign 0.01
R5858:Dnase1 UTSW 16 3,857,513 (GRCm39) splice site probably benign
R6256:Dnase1 UTSW 16 3,855,485 (GRCm39) missense probably benign 0.06
R6519:Dnase1 UTSW 16 3,856,453 (GRCm39) missense probably damaging 1.00
R7002:Dnase1 UTSW 16 3,857,410 (GRCm39) missense possibly damaging 0.76
R7977:Dnase1 UTSW 16 3,855,834 (GRCm39) missense probably damaging 1.00
R7987:Dnase1 UTSW 16 3,855,834 (GRCm39) missense probably damaging 1.00
R8050:Dnase1 UTSW 16 3,855,861 (GRCm39) missense probably damaging 1.00
R9781:Dnase1 UTSW 16 3,857,054 (GRCm39) missense probably benign 0.01
Posted On 2012-12-06