Incidental Mutation 'R9781:Dnase1'
ID 734079
Institutional Source Beutler Lab
Gene Symbol Dnase1
Ensembl Gene ENSMUSG00000005980
Gene Name deoxyribonuclease I
Synonyms Dnl1, DNaseI
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.465) question?
Stock # R9781 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 3855007-3857888 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3857054 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 204 (S204P)
Ref Sequence ENSEMBL: ENSMUSP00000006136 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006136] [ENSMUST00000006137] [ENSMUST00000120009] [ENSMUST00000137748] [ENSMUST00000157044] [ENSMUST00000175755] [ENSMUST00000177337]
AlphaFold P49183
Predicted Effect probably benign
Transcript: ENSMUST00000006136
AA Change: S204P

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000006136
Gene: ENSMUSG00000005980
AA Change: S204P

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 benign
Transcript: ENSMUST00000120009
AA Change: S204P

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000113119
Gene: ENSMUSG00000005980
AA Change: S204P

DomainStartEndE-ValueType
DNaseIc 6 282 5.04e-220 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000137748
AA Change: S204P

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000119934
Gene: ENSMUSG00000005980
AA Change: S204P

DomainStartEndE-ValueType
DNaseIc 6 225 7.51e-146 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000157044
SMART Domains Protein: ENSMUSP00000120642
Gene: ENSMUSG00000005980

DomainStartEndE-ValueType
DNaseIc 6 70 4.5e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000175755
AA Change: S21P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000135060
Gene: ENSMUSG00000005980
AA Change: S21P

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 unknown
Transcript: ENSMUST00000177337
AA Change: V188A
SMART Domains Protein: ENSMUSP00000135442
Gene: ENSMUSG00000005980
AA Change: V188A

DomainStartEndE-ValueType
DNaseIc 6 200 6.86e-67 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.3%
  • 20x: 98.1%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A G 6: 128,519,860 (GRCm39) F1386L probably benign Het
Aoc1l2 G A 6: 48,907,660 (GRCm39) S220N possibly damaging Het
Ap3d1 A C 10: 80,545,609 (GRCm39) L1040R possibly damaging Het
Bag4 T A 8: 26,259,564 (GRCm39) N212Y probably damaging Het
Bop1 A T 15: 76,338,041 (GRCm39) S610T probably damaging Het
Car12 T G 9: 66,624,844 (GRCm39) S30A probably benign Het
Ccdc14 A T 16: 34,543,984 (GRCm39) T829S possibly damaging Het
Ccn6 T A 10: 39,027,167 (GRCm39) *355L probably null Het
Cdc14a A T 3: 116,122,274 (GRCm39) I231N probably benign Het
Ceacam14 A T 7: 17,549,082 (GRCm39) I158F possibly damaging Het
Clca4a G T 3: 144,667,713 (GRCm39) S419R probably benign Het
Clec2g A G 6: 128,960,012 (GRCm39) N258D probably benign Het
Cntn5 A C 9: 10,048,686 (GRCm39) probably null Het
Col5a3 T A 9: 20,721,272 (GRCm39) S72C unknown Het
Dmbt1 G C 7: 130,639,599 (GRCm39) V46L probably benign Het
Dnah7b A G 1: 46,376,754 (GRCm39) probably null Het
Dnhd1 A G 7: 105,352,917 (GRCm39) E2690G probably benign Het
Dst T C 1: 34,218,075 (GRCm39) L1505P probably benign Het
Dzip1 G A 14: 119,148,834 (GRCm39) L282F probably benign Het
E330034G19Rik A G 14: 24,359,528 (GRCm39) E313G unknown Het
Epc1 A T 18: 6,455,187 (GRCm39) probably null Het
Herc1 T C 9: 66,280,004 (GRCm39) M304T probably benign Het
Herc2 A T 7: 55,750,096 (GRCm39) I594F possibly damaging Het
Hivep2 T A 10: 14,005,828 (GRCm39) S809T probably benign Het
Hnrnph3 A T 10: 62,853,861 (GRCm39) M132K unknown Het
Hrnr A T 3: 93,239,696 (GRCm39) R3311S unknown Het
Jph3 T C 8: 122,457,380 (GRCm39) F7L probably damaging Het
Med13l C T 5: 118,868,032 (GRCm39) T732M possibly damaging Het
Mocos A T 18: 24,828,939 (GRCm39) H748L probably benign Het
Mrc1 A G 2: 14,249,100 (GRCm39) H212R probably benign Het
Mrc1 A T 2: 14,310,175 (GRCm39) Y812F possibly damaging Het
Mthfr T C 4: 148,132,710 (GRCm39) I296T probably damaging Het
Ncdn G A 4: 126,642,467 (GRCm39) R397W probably damaging Het
Nefh G A 11: 4,895,271 (GRCm39) T306I probably damaging Het
Nme7 C A 1: 164,155,890 (GRCm39) A30E possibly damaging Het
Or52z15 T A 7: 103,332,246 (GRCm39) M97K probably damaging Het
Pappa T A 4: 65,043,104 (GRCm39) L109Q possibly damaging Het
Pcdha2 A G 18: 37,074,102 (GRCm39) S578G probably benign Het
Pcf11 A T 7: 92,297,228 (GRCm39) D1361E possibly damaging Het
Pcm1 T C 8: 41,720,398 (GRCm39) S320P probably damaging Het
Pex19 T A 1: 171,956,855 (GRCm39) F105Y probably damaging Het
Pgap4 C T 4: 49,586,890 (GRCm39) V93I probably benign Het
Pggt1b A T 18: 46,392,779 (GRCm39) M124K probably damaging Het
Phkg1 T A 5: 129,895,807 (GRCm39) H148L probably damaging Het
Phlpp2 G T 8: 110,662,178 (GRCm39) R855L possibly damaging Het
Pkhd1 T A 1: 20,187,665 (GRCm39) I3548L possibly damaging Het
Plce1 T G 19: 38,513,654 (GRCm39) S318A probably damaging Het
Plcxd2 A G 16: 45,830,117 (GRCm39) W35R probably benign Het
Prl2b1 T A 13: 27,569,129 (GRCm39) E156D possibly damaging Het
Ptpn21 A G 12: 98,655,170 (GRCm39) V599A probably damaging Het
Raly T C 2: 154,699,265 (GRCm39) V23A probably damaging Het
Rapgef3 T C 15: 97,643,479 (GRCm39) I911V probably damaging Het
Rhbdl1 A G 17: 26,055,443 (GRCm39) V48A probably benign Het
Rhpn1 C T 15: 75,582,543 (GRCm39) Q212* probably null Het
Sec24b G T 3: 129,789,742 (GRCm39) P760T probably damaging Het
Septin8 C A 11: 53,422,889 (GRCm39) Q33K probably damaging Het
Serpinb6a T C 13: 34,109,346 (GRCm39) T150A probably benign Het
Shmt1 A T 11: 60,692,329 (GRCm39) H142Q probably damaging Het
Slc27a3 G A 3: 90,296,591 (GRCm39) S127L Het
Slc4a5 G A 6: 83,239,466 (GRCm39) A242T probably benign Het
Sphkap G A 1: 83,255,772 (GRCm39) T659I possibly damaging Het
Ssbp3 T C 4: 106,905,224 (GRCm39) S381P probably damaging Het
Stxbp5l C T 16: 37,165,485 (GRCm39) D78N probably benign Het
Suv39h2 G T 2: 3,463,631 (GRCm39) Q362K probably benign Het
Tcerg1 G A 18: 42,701,030 (GRCm39) R828Q probably damaging Het
Tgm2 T G 2: 157,971,321 (GRCm39) D306A probably damaging Het
Tmem79 A G 3: 88,239,931 (GRCm39) C260R possibly damaging Het
Ubn2 C A 6: 38,466,190 (GRCm39) A508E probably benign Het
Uggt2 T A 14: 119,232,384 (GRCm39) H1489L possibly damaging Het
Wnt16 T C 6: 22,291,114 (GRCm39) F181L probably damaging Het
Zfp326 T C 5: 106,062,825 (GRCm39) F565L unknown Het
Zfp62 T A 11: 49,106,297 (GRCm39) C129* probably null 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
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
Predicted Primers PCR Primer
(F):5'- ACGATGTTTACCTAGATGTCTGGC -3'
(R):5'- GTAAGCTGCCCAGATGGAAC -3'

Sequencing Primer
(F):5'- TTACCTAGATGTCTGGCAAAAGTGG -3'
(R):5'- TGCTGGTAGCCACTCTGACAAG -3'
Posted On 2022-11-14