Incidental Mutation 'R4983:Dnase1l1'
ID 385775
Institutional Source Beutler Lab
Gene Symbol Dnase1l1
Ensembl Gene ENSMUSG00000019088
Gene Name deoxyribonuclease 1-like 1
Synonyms 2310005K03Rik, G4.8, Dnase1ll, Dnl1ll
MMRRC Submission 042577-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R4983 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 73316823-73325939 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 73320644 bp (GRCm39)
Zygosity Homozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113515 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008826] [ENSMUST00000019232] [ENSMUST00000074085] [ENSMUST00000075821] [ENSMUST00000114189] [ENSMUST00000119361] [ENSMUST00000151702] [ENSMUST00000135690]
AlphaFold Q9D7J6
Predicted Effect probably benign
Transcript: ENSMUST00000008826
SMART Domains Protein: ENSMUSP00000008826
Gene: ENSMUSG00000008682

DomainStartEndE-ValueType
Pfam:Ribosomal_L16 5 167 1.1e-34 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000019232
SMART Domains Protein: ENSMUSP00000019232
Gene: ENSMUSG00000019088

DomainStartEndE-ValueType
DNaseIc 21 289 3.93e-149 SMART
low complexity region 301 313 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000074085
SMART Domains Protein: ENSMUSP00000082055
Gene: ENSMUSG00000008682

DomainStartEndE-ValueType
Pfam:Ribosomal_L16 5 167 1.1e-34 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000075821
SMART Domains Protein: ENSMUSP00000075218
Gene: ENSMUSG00000019088

DomainStartEndE-ValueType
DNaseIc 21 289 3.93e-149 SMART
low complexity region 301 313 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083047
Predicted Effect probably null
Transcript: ENSMUST00000114189
SMART Domains Protein: ENSMUSP00000109827
Gene: ENSMUSG00000019088

DomainStartEndE-ValueType
Blast:DNaseIc 21 70 5e-22 BLAST
SCOP:d2dnja_ 39 79 2e-4 SMART
low complexity region 91 103 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000119361
SMART Domains Protein: ENSMUSP00000113515
Gene: ENSMUSG00000019088

DomainStartEndE-ValueType
Blast:DNaseIc 21 64 2e-22 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144434
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148882
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125775
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149171
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146584
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128763
Predicted Effect noncoding transcript
Transcript: ENSMUST00000121868
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146260
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138954
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135012
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134330
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142142
Predicted Effect probably benign
Transcript: ENSMUST00000151702
SMART Domains Protein: ENSMUSP00000115919
Gene: ENSMUSG00000008682

DomainStartEndE-ValueType
Pfam:Ribosomal_L16 5 167 1.5e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135690
SMART Domains Protein: ENSMUSP00000119500
Gene: ENSMUSG00000008682

DomainStartEndE-ValueType
Pfam:Ribosomal_L16 5 150 1.2e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184075
Meta Mutation Damage Score 0.9711 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 97% (103/106)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a deoxyribonuclease protein that shows high sequence similarity to DNase I. The encoded protein is localized to the endoplasmic reticulum and modified by N-linked glycosylation. Alternate transcriptional splice variants encoding the same protein have been observed. [provided by RefSeq, Jan 2015]
PHENOTYPE: Female mice homozygous for an inactivating mutation of this gene exhibit poor motor coordination on the rotarod even on days 4 and 5 of a 5-day test. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933411K16Rik T G 19: 42,041,515 (GRCm39) S215R possibly damaging Het
Abcc9 T C 6: 142,627,867 (GRCm39) M388V probably benign Het
Acbd6 A C 1: 155,477,275 (GRCm39) T154P probably benign Het
Ago1 T C 4: 126,347,447 (GRCm39) D434G probably damaging Het
Ankib1 A T 5: 3,819,652 (GRCm39) M89K probably benign Het
Arap2 A T 5: 62,833,868 (GRCm39) H866Q probably damaging Het
Armh3 T C 19: 45,939,146 (GRCm39) T335A probably benign Het
Capn12 A T 7: 28,589,795 (GRCm39) H622L probably benign Het
Capns2 T G 8: 93,628,530 (GRCm39) F140V probably damaging Het
Catsper1 T G 19: 5,385,991 (GRCm39) F75V probably benign Het
Ccdc24 T C 4: 117,729,297 (GRCm39) N16S probably benign Het
Cdkn2aip A T 8: 48,165,964 (GRCm39) L114Q probably damaging Het
Cenpe T A 3: 134,940,689 (GRCm39) S649R probably damaging Het
Chgb A T 2: 132,635,602 (GRCm39) R515W probably damaging Het
Chrnb1 A G 11: 69,684,804 (GRCm39) F123S probably damaging Het
Copz2 A T 11: 96,748,377 (GRCm39) probably null Het
Cspp1 T A 1: 10,196,688 (GRCm39) N900K probably damaging Het
Daw1 C A 1: 83,165,719 (GRCm39) A178E probably benign Het
Epb41l5 T C 1: 119,482,801 (GRCm39) D629G probably benign Het
Erap1 A G 13: 74,838,829 (GRCm39) E925G probably benign Het
Exoc7 A C 11: 116,180,095 (GRCm39) F657V probably damaging Het
Fam210b G C 2: 172,187,585 (GRCm39) A2P probably damaging Homo
Fry A G 5: 150,321,719 (GRCm39) E1018G probably damaging Het
Galc A T 12: 98,209,027 (GRCm39) L15* probably null Het
Gm11232 T A 4: 71,675,138 (GRCm39) K121N possibly damaging Het
Hectd1 A T 12: 51,831,045 (GRCm39) D931E probably benign Het
Hecw2 T C 1: 53,871,830 (GRCm39) H1372R probably benign Het
Ighv3-2 T A 12: 113,997,606 (GRCm39) noncoding transcript Het
Kcns2 T G 15: 34,839,751 (GRCm39) S371R probably damaging Het
Kif23 T C 9: 61,843,985 (GRCm39) K175E probably benign Het
Kmt2c G A 5: 25,500,509 (GRCm39) R436W possibly damaging Het
Lama5 A G 2: 179,835,242 (GRCm39) S1317P probably benign Het
Lce1e T C 3: 92,615,135 (GRCm39) S71G unknown Het
Lrrc37a T A 11: 103,388,444 (GRCm39) E2327V unknown Het
Map3k20 A G 2: 72,232,411 (GRCm39) M356V probably benign Het
Med12l C T 3: 59,169,350 (GRCm39) A1580V probably damaging Het
Metap2 G T 10: 93,725,462 (GRCm39) T30K possibly damaging Het
Mysm1 T A 4: 94,861,207 (GRCm39) T53S probably benign Het
Nasp A T 4: 116,459,382 (GRCm39) D717E probably damaging Het
Ndnf G A 6: 65,680,555 (GRCm39) R278H possibly damaging Het
Neb A T 2: 52,106,273 (GRCm39) N4205K probably damaging Het
Nebl A T 2: 17,380,082 (GRCm39) I764N possibly damaging Het
Nucb1 A G 7: 45,148,313 (GRCm39) Y131H probably damaging Het
Or14c39 A C 7: 86,343,687 (GRCm39) T8P probably benign Het
Or1e22 A G 11: 73,377,623 (GRCm39) I9T probably benign Het
Or5l14 G T 2: 87,793,042 (GRCm39) H65N probably benign Het
Oscp1 T A 4: 125,970,555 (GRCm39) C115S probably benign Het
Paip2 C T 18: 35,746,412 (GRCm39) R59C possibly damaging Het
Pate10 T G 9: 35,653,465 (GRCm39) F90V probably benign Het
Pcdhga4 G A 18: 37,819,572 (GRCm39) D374N probably damaging Het
Pcolce G T 5: 137,603,936 (GRCm39) probably benign Het
Pcyox1l T C 18: 61,832,468 (GRCm39) E193G probably damaging Het
Pde6b A T 5: 108,573,196 (GRCm39) Q522L probably benign Het
Peg10 T TCCG 6: 4,756,451 (GRCm39) probably benign Het
Phf11a A G 14: 59,521,887 (GRCm39) F95L probably benign Het
Pja2 A C 17: 64,616,053 (GRCm39) S281A probably benign Het
Plekhm2 A G 4: 141,361,687 (GRCm39) F272S probably damaging Het
Pom121l2 T C 13: 22,167,984 (GRCm39) S752P probably benign Het
Ppl T C 16: 4,906,582 (GRCm39) T1238A possibly damaging Het
Prmt7 A G 8: 106,976,995 (GRCm39) Y569C probably damaging Het
Prss37 G A 6: 40,493,070 (GRCm39) T132I probably benign Het
Psmf1 A T 2: 151,571,377 (GRCm39) probably benign Het
Ptprj A C 2: 90,290,876 (GRCm39) I528S probably damaging Het
Reg1 A G 6: 78,405,196 (GRCm39) T140A possibly damaging Het
Rtn4 A G 11: 29,657,217 (GRCm39) N457S probably benign Het
Rusf1 C T 7: 127,875,645 (GRCm39) probably benign Het
Scn9a T C 2: 66,396,614 (GRCm39) K93R probably benign Het
Sec16a A G 2: 26,329,531 (GRCm39) V828A probably benign Het
Sec23b T A 2: 144,423,873 (GRCm39) D507E probably benign Het
Sirt4 A T 5: 115,620,850 (GRCm39) F107L probably benign Het
Slc14a2 A T 18: 78,193,616 (GRCm39) L862Q probably damaging Het
Slc16a4 T C 3: 107,208,176 (GRCm39) S229P probably benign Het
Slc37a3 A T 6: 39,329,651 (GRCm39) C185* probably null Het
Slc5a2 A T 7: 127,870,982 (GRCm39) *154C probably null Het
Snx17 A G 5: 31,353,138 (GRCm39) S42G possibly damaging Het
Tgm6 T C 2: 129,983,113 (GRCm39) V234A probably damaging Het
Thbs4 A G 13: 92,927,207 (GRCm39) M94T probably benign Het
Thtpa A G 14: 55,309,605 (GRCm39) probably benign Het
Tie1 T C 4: 118,340,952 (GRCm39) E343G probably damaging Het
Tmem145 A G 7: 25,008,027 (GRCm39) I238V probably benign Het
Tmprss11f T C 5: 86,685,858 (GRCm39) S170G probably benign Het
Tnk2 T A 16: 32,499,283 (GRCm39) D865E probably damaging Het
Ttll8 T C 15: 88,809,785 (GRCm39) E337G probably benign Het
Ttn G A 2: 76,697,790 (GRCm39) probably benign Het
Tubgcp6 T C 15: 88,990,494 (GRCm39) E710G probably damaging Het
Txndc2 T A 17: 65,945,055 (GRCm39) H374L probably benign Het
Unc80 G T 1: 66,713,891 (GRCm39) probably null Het
Vmn2r23 G A 6: 123,710,308 (GRCm39) C537Y probably damaging Het
Vmn2r45 A G 7: 8,486,116 (GRCm39) F391L probably damaging Het
Vstm4 A T 14: 32,641,202 (GRCm39) T262S probably benign Het
Zfp180 C T 7: 23,805,503 (GRCm39) R641C probably damaging Het
Zfp979 A T 4: 147,698,371 (GRCm39) S113T possibly damaging Het
Zswim4 C T 8: 84,953,296 (GRCm39) probably null Het
Zswim5 T A 4: 116,842,883 (GRCm39) M876K possibly damaging Het
Other mutations in Dnase1l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4691:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R4752:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R4753:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R4814:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R4815:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R4846:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R4861:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R4862:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R4872:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R4873:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R4875:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R4978:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R4979:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R4980:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R4981:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R4982:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R5039:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R5084:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R5085:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R5086:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R5087:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R5106:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R5107:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R5108:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R5109:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R5137:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R5171:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R5266:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R5296:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R5330:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R5417:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R5418:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R5419:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R5448:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R5450:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R5466:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R5467:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R6126:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R6128:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R6129:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R6130:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R6232:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R6233:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R6234:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R6242:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R6305:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R6306:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R6329:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R6343:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R6344:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R6396:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R6397:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R6449:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R6450:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R6585:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R6586:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R6646:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R6679:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R6681:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R6845:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R6847:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R8526:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- GATTGGTACCAGAGTGGCTG -3'
(R):5'- TTGGAGGGTTCCTGATGCAC -3'

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