Incidental Mutation 'R5014:Dnase1'
ID 385454
Institutional Source Beutler Lab
Gene Symbol Dnase1
Ensembl Gene ENSMUSG00000005980
Gene Name deoxyribonuclease I
Synonyms Dnl1, DNaseI
MMRRC Submission 042605-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.465) question?
Stock # R5014 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 3855007-3857888 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 3856880 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 170 (Y170*)
Ref Sequence ENSEMBL: ENSMUSP00000119934 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006136] [ENSMUST00000006137] [ENSMUST00000120009] [ENSMUST00000137748] [ENSMUST00000175755] [ENSMUST00000177337] [ENSMUST00000157044]
AlphaFold P49183
Predicted Effect probably null
Transcript: ENSMUST00000006136
AA Change: Y170*
SMART Domains Protein: ENSMUSP00000006136
Gene: ENSMUSG00000005980
AA Change: Y170*

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 null
Transcript: ENSMUST00000120009
AA Change: Y170*
SMART Domains Protein: ENSMUSP00000113119
Gene: ENSMUSG00000005980
AA Change: Y170*

DomainStartEndE-ValueType
DNaseIc 6 282 5.04e-220 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125961
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132466
Predicted Effect probably null
Transcript: ENSMUST00000137748
AA Change: Y170*
SMART Domains Protein: ENSMUSP00000119934
Gene: ENSMUSG00000005980
AA Change: Y170*

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

DomainStartEndE-ValueType
DNaseIc 6 200 6.86e-67 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000157044
SMART Domains Protein: ENSMUSP00000120642
Gene: ENSMUSG00000005980

DomainStartEndE-ValueType
DNaseIc 6 70 4.5e-5 SMART
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.4%
  • 20x: 91.7%
Validation Efficiency 97% (83/86)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,520,896 (GRCm39) T1353A probably benign Het
Abca8b A T 11: 109,840,957 (GRCm39) I1072N probably damaging Het
Atp1a2 T C 1: 172,112,438 (GRCm39) T517A probably benign Het
Blk T G 14: 63,617,236 (GRCm39) N257T probably benign Het
Brd4 A T 17: 32,417,372 (GRCm39) probably benign Het
Calr4 C T 4: 109,092,994 (GRCm39) Q25* probably null Het
Cbl T C 9: 44,065,696 (GRCm39) probably null Het
Ccdc30 T G 4: 119,250,824 (GRCm39) H6P possibly damaging Het
Cd101 A C 3: 100,911,139 (GRCm39) Y840D probably damaging Het
Cd68 T A 11: 69,556,165 (GRCm39) N178Y probably damaging Het
Cep350 T C 1: 155,803,952 (GRCm39) T1044A probably benign Het
Cfap46 A G 7: 139,207,291 (GRCm39) V1876A probably benign Het
Clec2g T A 6: 128,925,765 (GRCm39) M58K probably benign Het
Clip1 T C 5: 123,755,793 (GRCm39) E860G probably damaging Het
Col18a1 C T 10: 76,906,794 (GRCm39) probably null Het
Cul7 A G 17: 46,966,868 (GRCm39) *650W probably null Het
Dkk4 C T 8: 23,115,315 (GRCm39) A55V probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Dnai7 T C 6: 145,128,992 (GRCm39) E407G probably damaging Het
Dnmt1 A C 9: 20,823,550 (GRCm39) I1019S probably benign Het
Epha6 T A 16: 59,486,942 (GRCm39) H1035L probably benign Het
Fam124b T C 1: 80,177,776 (GRCm39) T408A probably benign Het
Fam227b G A 2: 125,958,043 (GRCm39) P241S probably damaging Het
Galnt7 T C 8: 57,998,414 (GRCm39) E305G probably damaging Het
Garin1b C T 6: 29,326,723 (GRCm39) probably benign Het
Git1 T A 11: 77,389,821 (GRCm39) V28E probably damaging Het
Gm10010 C T 6: 128,177,556 (GRCm39) noncoding transcript Het
Gm4956 T C 1: 21,363,821 (GRCm39) noncoding transcript Het
Gpr152 T G 19: 4,193,506 (GRCm39) V349G probably benign Het
Gtsf1l C T 2: 162,929,112 (GRCm39) V124I probably damaging Het
Gucy1b1 C G 3: 81,953,974 (GRCm39) G114A probably benign Het
Hk2 T C 6: 82,720,936 (GRCm39) Q166R possibly damaging Het
Hook2 A G 8: 85,718,006 (GRCm39) I44M probably damaging Het
Ildr1 T A 16: 36,541,921 (GRCm39) M222K probably damaging Het
Ints6 A T 14: 62,997,640 (GRCm39) F55Y probably benign Het
Kcnh1 A G 1: 191,959,388 (GRCm39) N314S probably damaging Het
Lpin3 T C 2: 160,746,748 (GRCm39) F748L probably damaging Het
Lrsam1 T C 2: 32,826,407 (GRCm39) probably benign Het
Msh2 A T 17: 88,025,004 (GRCm39) K627N possibly damaging Het
Myrip A G 9: 120,251,534 (GRCm39) Q219R probably damaging Het
Ndufb3 T A 1: 58,630,401 (GRCm39) W51R probably damaging Het
Nfasc A T 1: 132,512,185 (GRCm39) probably benign Het
Or2c1 T A 16: 3,656,912 (GRCm39) I25N probably benign Het
Or2h2 T A 17: 37,396,446 (GRCm39) I204F probably benign Het
Or8s8 T C 15: 98,354,857 (GRCm39) V222A possibly damaging Het
P3h3 T A 6: 124,832,199 (GRCm39) E229V probably damaging Het
Ppfia2 T A 10: 106,701,224 (GRCm39) L837* probably null Het
Ppp2r1a G A 17: 21,179,101 (GRCm39) probably null Het
Rabgap1 T A 2: 37,377,152 (GRCm39) V328E probably damaging Het
Ralgapb G A 2: 158,337,455 (GRCm39) R1138Q probably damaging Het
Ranbp2 A T 10: 58,299,942 (GRCm39) Q498L probably benign Het
Rbx1 T A 15: 81,355,161 (GRCm39) C56S probably damaging Het
Rcan2 T C 17: 44,328,704 (GRCm39) F45S probably damaging Het
Rgs20 T C 1: 4,980,770 (GRCm39) Y185C probably damaging Het
Rorc T G 3: 94,298,460 (GRCm39) L315R probably damaging Het
Skic2 A G 17: 35,066,401 (GRCm39) V194A probably benign Het
Slc13a2 T C 11: 78,290,987 (GRCm39) K406E possibly damaging Het
Slc35g3 T A 11: 69,651,866 (GRCm39) K62* probably null Het
Sox30 T C 11: 45,882,736 (GRCm39) S589P probably benign Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Ssh2 T A 11: 77,346,102 (GRCm39) C1362* probably null Het
Tecta C T 9: 42,284,538 (GRCm39) C849Y probably damaging Het
Thbs1 T A 2: 117,950,518 (GRCm39) probably null Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tut4 T C 4: 108,384,043 (GRCm39) probably benign Het
Tyk2 C T 9: 21,027,126 (GRCm39) probably null Het
Tyw5 C A 1: 57,446,004 (GRCm39) probably benign Het
Vcp T C 4: 42,980,828 (GRCm39) T761A probably benign Het
Wdfy4 A T 14: 32,822,897 (GRCm39) C1401S probably benign Het
Wiz T C 17: 32,578,340 (GRCm39) N391D probably damaging Het
Ylpm1 G A 12: 85,061,523 (GRCm39) E475K unknown Het
Zfp108 G T 7: 23,960,163 (GRCm39) K251N probably benign Het
Zfp184 A G 13: 22,142,594 (GRCm39) D100G probably benign Het
Zfp990 T A 4: 145,264,669 (GRCm39) C556S possibly damaging Het
Zkscan16 C T 4: 58,951,892 (GRCm39) P189L probably damaging Het
Other mutations in Dnase1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00649:Dnase1 APN 16 3,856,888 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GCTCGAAGCTAAAACCACTCTG -3'
(R):5'- ATCAGCCACTGGAAGATGGG -3'

Sequencing Primer
(F):5'- TGCATAAGGGCCCCAGTGTAAC -3'
(R):5'- CCACTGGAAGATGGGGCTTG -3'
Posted On 2016-05-10