Incidental Mutation 'IGL03349:Dnase1l3'
ID419602
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnase1l3
Ensembl Gene ENSMUSG00000025279
Gene Namedeoxyribonuclease 1-like 3
SynonymsDNasegamma
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.054) question?
Stock #IGL03349
Quality Score
Status
Chromosome14
Chromosomal Location7964533-7994573 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 7984146 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 89 (T89A)
Ref Sequence ENSEMBL: ENSMUSP00000026315 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026315]
Predicted Effect probably benign
Transcript: ENSMUST00000026315
AA Change: T89A

PolyPhen 2 Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000026315
Gene: ENSMUSG00000025279
AA Change: T89A

DomainStartEndE-ValueType
DNaseIc 9 287 1.24e-210 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 deoxyribonuclease I family. The encoded protein hydrolyzes DNA, is not inhibited by actin, and mediates the breakdown of DNA during apoptosis. Mutations in this gene are a cause of systemic lupus erythematosus-16. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired necrosis-associated internucleosomal DNA fragmentation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,481,336 Y3648H probably benign Het
Akr1c20 T A 13: 4,508,250 R172* probably null Het
Apba1 A T 19: 23,917,575 E458D probably benign Het
Atg2a T A 19: 6,258,024 V1590D possibly damaging Het
Atp13a4 A G 16: 29,456,671 S332P probably benign Het
Atp8b2 A T 3: 89,957,817 F163I probably damaging Het
Azin2 A T 4: 128,946,114 Y228* probably null Het
Cd109 C T 9: 78,636,485 H104Y probably benign Het
Ces2a G T 8: 104,734,080 L3F probably damaging Het
Crebbp A G 16: 4,117,358 V889A possibly damaging Het
Crim1 A T 17: 78,355,150 K801* probably null Het
Cxcr1 T C 1: 74,192,528 T112A possibly damaging Het
Cyp1a2 A G 9: 57,679,875 S378P possibly damaging Het
Cyp2c67 T C 19: 39,643,684 Y80C probably damaging Het
Dennd4a T C 9: 64,888,974 W761R probably damaging Het
Dgki C T 6: 37,097,627 probably null Het
Dock4 C A 12: 40,733,310 Q748K probably benign Het
Elmo3 A G 8: 105,306,388 E68G possibly damaging Het
Fer1l4 C A 2: 156,044,734 E692* probably null Het
Fkbp9 T A 6: 56,849,718 M101K probably damaging Het
Gm4763 T A 7: 24,722,836 S163C probably damaging Het
Grin1 C A 2: 25,310,436 V225L probably benign Het
Gucy2d T C 7: 98,449,841 V288A possibly damaging Het
Heatr5b C A 17: 78,755,320 K1933N probably benign Het
Hsdl1 A T 8: 119,565,697 S260T probably benign Het
Hspg2 T C 4: 137,560,522 probably benign Het
Ift172 A T 5: 31,284,130 V220E probably benign Het
Igkv12-47 C T 6: 69,750,866 noncoding transcript Het
Ism1 C T 2: 139,731,975 R82* probably null Het
Lrch3 A G 16: 32,955,324 T187A probably damaging Het
Ltbr T A 6: 125,312,366 D160V probably damaging Het
Mark3 A T 12: 111,628,250 K353I probably benign Het
Mrm3 A T 11: 76,249,946 H260L probably damaging Het
Nckap1 T C 2: 80,525,560 Q627R probably benign Het
Neb T A 2: 52,278,952 Y1857F possibly damaging Het
Ntsr1 A G 2: 180,500,502 T29A probably benign Het
Ofcc1 C T 13: 40,072,752 G768D probably benign Het
Olfr181 T C 16: 58,925,960 M204V probably benign Het
Pde8b T C 13: 95,043,043 probably benign Het
Pld4 A T 12: 112,767,879 Q393L probably benign Het
Prss23 T C 7: 89,509,857 I335V probably benign Het
Prune2 A G 19: 17,123,346 I2071M probably damaging Het
Ptprz1 T A 6: 23,000,332 V807E probably damaging Het
Rnf20 G A 4: 49,655,936 A961T probably damaging Het
Slc25a24 A G 3: 109,149,549 Q126R possibly damaging Het
Slc35e1 A T 8: 72,483,852 Y382N probably damaging Het
Snrpn C T 7: 59,985,865 G129D probably damaging Het
Spag9 A T 11: 94,093,509 N386I possibly damaging Het
Ssna1 T C 2: 25,271,530 N102D possibly damaging Het
Tcrg-C2 T A 13: 19,305,176 T129S probably benign Het
Tex21 A T 12: 76,221,591 I139N probably benign Het
Trim21 T C 7: 102,563,277 T161A probably benign Het
Vmn2r82 T A 10: 79,377,869 H96Q probably benign Het
Other mutations in Dnase1l3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0668:Dnase1l3 UTSW 14 7968086 critical splice donor site probably null
R1282:Dnase1l3 UTSW 14 7983117 missense probably benign 0.16
R1460:Dnase1l3 UTSW 14 7974050 missense probably benign 0.10
R1768:Dnase1l3 UTSW 14 7974104 missense probably damaging 1.00
R2418:Dnase1l3 UTSW 14 7968089 missense possibly damaging 0.89
R5175:Dnase1l3 UTSW 14 7987386 nonsense probably null
R5271:Dnase1l3 UTSW 14 7993843 missense probably damaging 1.00
R5508:Dnase1l3 UTSW 14 7968146 missense probably damaging 1.00
R5561:Dnase1l3 UTSW 14 7967847 missense probably damaging 1.00
R6374:Dnase1l3 UTSW 14 7974115 missense probably damaging 1.00
R7734:Dnase1l3 UTSW 14 7977144 missense probably benign 0.04
R8165:Dnase1l3 UTSW 14 7994299 start gained probably benign
R8421:Dnase1l3 UTSW 14 7968122 missense possibly damaging 0.94
Posted On2016-08-02