Incidental Mutation 'R4981:Dnase1l1'
ID 384882
Institutional Source Beutler Lab
Gene Symbol Dnase1l1
Ensembl Gene ENSMUSG00000019088
Gene Name deoxyribonuclease 1-like 1
Synonyms 2310005K03Rik, G4.8, Dnase1ll, Dnl1ll
MMRRC Submission 042576-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R4981 (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] [ENSMUST00000135690] [ENSMUST00000151702]
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: ENSMUST00000125775
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: ENSMUST00000135690
SMART Domains Protein: ENSMUSP00000119500
Gene: ENSMUSG00000008682

DomainStartEndE-ValueType
Pfam:Ribosomal_L16 5 150 1.2e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184075
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148882
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149171
Predicted Effect probably benign
Transcript: ENSMUST00000151702
SMART Domains Protein: ENSMUSP00000115919
Gene: ENSMUSG00000008682

DomainStartEndE-ValueType
Pfam:Ribosomal_L16 5 167 1.5e-34 PFAM
Meta Mutation Damage Score 0.9711 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.3%
Validation Efficiency 100% (105/105)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700097O09Rik A T 12: 55,095,772 (GRCm39) probably null Het
Aatf T C 11: 84,402,323 (GRCm39) D121G probably benign Het
Amer2 T A 14: 60,617,176 (GRCm39) L331H probably damaging Het
Ang4 T G 14: 52,001,829 (GRCm39) K40Q probably benign Het
Aspm A C 1: 139,398,498 (GRCm39) probably null Het
Cacna1c A T 6: 118,728,432 (GRCm39) D337E probably benign Het
Ccdc124 T C 8: 71,321,429 (GRCm39) E134G probably benign Het
Ccdc7a G T 8: 129,711,464 (GRCm39) A312E probably benign Het
Cd209g A G 8: 4,186,845 (GRCm39) D130G probably damaging Het
Cd320 T C 17: 34,066,549 (GRCm39) S96P probably benign Het
Cenatac A T 9: 44,329,245 (GRCm39) F14Y probably damaging Het
Clu C G 14: 66,210,815 (GRCm39) Q134E probably damaging Het
Cnksr3 T A 10: 7,110,777 (GRCm39) H28L probably benign Het
Cntnap1 T C 11: 101,067,159 (GRCm39) probably null Het
Col22a1 C T 15: 71,732,915 (GRCm39) C546Y unknown Het
Col6a3 C T 1: 90,706,565 (GRCm39) V2183I unknown Het
Cop1 A G 1: 159,152,638 (GRCm39) probably benign Het
Cpne8 T C 15: 90,563,438 (GRCm39) I24V probably benign Het
Cspp1 T A 1: 10,196,688 (GRCm39) N900K probably damaging Het
Dennd5b G A 6: 148,911,270 (GRCm39) L978F possibly damaging Het
Depdc1a G T 3: 159,229,550 (GRCm39) M627I probably benign Het
Dnah3 A T 7: 119,555,424 (GRCm39) N2721K probably benign Het
Dsg1b A G 18: 20,541,925 (GRCm39) T811A possibly damaging Het
Emilin1 C G 5: 31,076,695 (GRCm39) Q847E probably benign Het
Epha3 A T 16: 63,472,775 (GRCm39) V370D probably benign Het
Epha5 T A 5: 84,298,342 (GRCm39) T406S probably damaging Het
Ephb1 A T 9: 101,918,159 (GRCm39) I450N probably benign Het
Ephb2 A G 4: 136,423,321 (GRCm39) M319T probably benign Het
Eps15l1 A G 8: 73,132,833 (GRCm39) probably null Het
Fbxo9 G A 9: 77,993,168 (GRCm39) probably benign Het
Fgd5 T C 6: 91,966,281 (GRCm39) I838T probably damaging Het
Fnbp4 T C 2: 90,596,174 (GRCm39) F582L probably damaging Het
Frs3 T C 17: 48,000,187 (GRCm39) probably null Het
Fscb C T 12: 64,520,393 (GRCm39) V358I possibly damaging Het
Fus G T 7: 127,566,727 (GRCm39) probably benign Het
Fyb1 CCTCTCTCTCTCTCTCTCTCT CCTCTCTCTCTCTCTCTCT 15: 6,676,092 (GRCm39) probably benign Het
Glra3 A T 8: 56,444,270 (GRCm39) I77F possibly damaging Het
Gm4454 C T 7: 38,269,860 (GRCm39) noncoding transcript Het
Gng3 G A 19: 8,815,625 (GRCm39) A37V possibly damaging Het
Grin3b T A 10: 79,812,191 (GRCm39) probably benign Het
Herpud1 A G 8: 95,118,422 (GRCm39) Y41C probably damaging Het
Igkv4-92 G C 6: 68,732,028 (GRCm39) S115R possibly damaging Het
Ikbip T A 10: 90,931,848 (GRCm39) I164N probably benign Het
Kank1 A G 19: 25,388,759 (GRCm39) T783A probably benign Het
Kcnq3 A T 15: 65,903,254 (GRCm39) V152E possibly damaging Het
Kif23 C T 9: 61,839,153 (GRCm39) R314H probably damaging Het
Klc4 T C 17: 46,955,287 (GRCm39) H49R probably benign Het
Klhl20 A T 1: 160,930,575 (GRCm39) I309N possibly damaging Het
Lgals4 A G 7: 28,540,701 (GRCm39) Y268C probably damaging Het
Lingo4 A G 3: 94,306,761 (GRCm39) Q13R probably benign Het
Lmtk2 C A 5: 144,113,265 (GRCm39) F1328L probably damaging Het
Mapk14 A G 17: 28,960,765 (GRCm39) R179G probably damaging Het
Mbd3l1 A T 9: 18,396,201 (GRCm39) T109S probably benign Het
Megf6 T C 4: 154,351,907 (GRCm39) F1169L possibly damaging Het
Mrgpra1 A T 7: 46,984,959 (GRCm39) V240D probably damaging Het
Muc6 G A 7: 141,218,313 (GRCm39) S2120F possibly damaging Het
Myh1 T C 11: 67,115,300 (GRCm39) probably benign Het
Nav3 T C 10: 109,716,553 (GRCm39) I172V probably benign Het
Nemp1 T A 10: 127,529,399 (GRCm39) L178Q probably damaging Het
Numa1 T C 7: 101,641,881 (GRCm39) S110P probably damaging Het
Or4a75 A G 2: 89,447,769 (GRCm39) Y256H probably damaging Het
Or4c117 T C 2: 88,955,845 (GRCm39) T77A probably benign Het
Or51k1 A G 7: 103,661,312 (GRCm39) I199T probably damaging Het
Or5ak25 A G 2: 85,268,813 (GRCm39) S230P probably damaging Het
Or8k30 T C 2: 86,339,171 (GRCm39) Y123H probably damaging Het
Or9q1 A T 19: 13,805,458 (GRCm39) F101I probably damaging Het
Pard3b T G 1: 62,383,219 (GRCm39) M771R probably damaging Het
Phkg2 A G 7: 127,181,551 (GRCm39) I245V probably damaging Het
Pik3cg A T 12: 32,254,103 (GRCm39) M628K possibly damaging Het
Poln A G 5: 34,264,429 (GRCm39) probably null Het
Ppip5k1 A T 2: 121,142,871 (GRCm39) S1172T probably damaging Het
Prdm5 A T 6: 65,847,446 (GRCm39) H363L probably damaging Het
Prkdc A G 16: 15,496,173 (GRCm39) Y788C probably damaging Het
Prrc2c T A 1: 162,520,116 (GRCm39) R2076S probably damaging Het
Sh2d2a A G 3: 87,756,728 (GRCm39) Y191C probably damaging Het
Slc20a1 T C 2: 129,041,919 (GRCm39) I94T probably damaging Het
Sptbn2 T C 19: 4,801,686 (GRCm39) V2366A probably benign Het
Stab2 T A 10: 86,796,087 (GRCm39) M387L probably benign Het
Syne2 T G 12: 75,987,993 (GRCm39) M1718R probably damaging Het
Synm G T 7: 67,384,235 (GRCm39) F700L probably benign Het
Tmco4 T C 4: 138,718,012 (GRCm39) F51L possibly damaging Het
Tmem104 C A 11: 115,095,962 (GRCm39) P168T probably damaging Het
Tril G T 6: 53,795,905 (GRCm39) T439K probably benign Het
Trim2 A G 3: 84,085,042 (GRCm39) L559P probably damaging Het
Trim3 A G 7: 105,268,335 (GRCm39) V149A probably damaging Het
Triml2 A G 8: 43,640,717 (GRCm39) N191S probably benign Het
Usp4 A G 9: 108,258,617 (GRCm39) D16G probably benign Het
Vmn2r58 G A 7: 41,486,885 (GRCm39) T670I probably damaging Het
Vmn2r97 G T 17: 19,160,436 (GRCm39) G524* probably null Het
Xpo5 C A 17: 46,531,743 (GRCm39) F426L probably damaging Het
Zfp800 A G 6: 28,247,190 (GRCm39) L84S probably damaging Het
Zranb2 T G 3: 157,252,378 (GRCm39) probably benign Het
Zswim4 C T 8: 84,953,296 (GRCm39) probably null 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
R4982:Dnase1l1 UTSW X 73,320,644 (GRCm39) critical splice donor site probably null
R4983: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'- ATTGGTACCAGAGTGGCTGC -3'
(R):5'- TTGGAGGGTTCCTGATGCAC -3'

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