Incidental Mutation 'R6233:Dnase1l1'
ID 504797
Institutional Source Beutler Lab
Gene Symbol Dnase1l1
Ensembl Gene ENSMUSG00000019088
Gene Name deoxyribonuclease 1-like 1
Synonyms 2310005K03Rik, G4.8, Dnase1ll, Dnl1ll
MMRRC Submission 044361-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R6233 (G1)
Quality Score 221.999
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: 99.9%
  • 3x: 99.7%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 98% (79/81)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1 T A 2: 58,338,411 (GRCm39) N437I probably benign Het
Adam34l T G 8: 44,078,949 (GRCm39) N425T probably benign Het
Adgrg7 T A 16: 56,599,005 (GRCm39) T57S possibly damaging Het
Agbl2 T A 2: 90,643,657 (GRCm39) D792E probably benign Het
Ankrd9 A T 12: 110,943,554 (GRCm39) I160N probably damaging Het
Aoc1l2 A G 6: 48,907,899 (GRCm39) T300A probably benign Het
Baz2b T A 2: 59,737,855 (GRCm39) Q1818L possibly damaging Het
Bod1 A G 11: 31,616,740 (GRCm39) *174Q probably null Het
Cacna1a A G 8: 85,315,382 (GRCm39) Y1539C probably damaging Het
Clmn A C 12: 104,751,714 (GRCm39) L247R probably damaging Het
Cyp1b1 G T 17: 80,021,695 (GRCm39) L16M probably damaging Het
Dhrs7l T C 12: 72,666,341 (GRCm39) Y110C probably damaging Het
Dhx29 T A 13: 113,101,071 (GRCm39) S1205T probably benign Het
Dmkn C A 7: 30,479,104 (GRCm39) A280E probably damaging Het
Dnah7b G A 1: 46,243,429 (GRCm39) D1578N probably damaging Het
Dsc3 C T 18: 20,098,852 (GRCm39) G776R possibly damaging Het
Eefsec A G 6: 88,335,526 (GRCm39) probably null Het
Efhb A G 17: 53,769,580 (GRCm39) F243S possibly damaging Het
Eif2ak2 A T 17: 79,178,662 (GRCm39) Y137* probably null Het
Eny2 A G 15: 44,297,056 (GRCm39) probably null Het
F2rl3 A G 8: 73,489,513 (GRCm39) T247A probably benign Het
Fan1 A T 7: 64,004,119 (GRCm39) H782Q probably damaging Het
Fbxo28 A G 1: 182,169,073 (GRCm39) S22P unknown Het
Fcgbpl1 T C 7: 27,830,885 (GRCm39) C33R probably damaging Het
Fcrlb A G 1: 170,736,458 (GRCm39) I106T probably damaging Het
Fer1l5 T C 1: 36,414,367 (GRCm39) probably null Het
Fgfbp1 T C 5: 44,136,704 (GRCm39) D196G possibly damaging Het
Gab1 A T 8: 81,606,161 (GRCm39) Y24* probably null Het
Gcc2 T C 10: 58,106,806 (GRCm39) S681P probably damaging Het
Git2 T C 5: 114,905,175 (GRCm39) N94S probably benign Het
Gm5799 T G 14: 43,782,088 (GRCm39) L87V probably damaging Het
Gna12 A G 5: 140,746,447 (GRCm39) F333L possibly damaging Het
Gria2 A G 3: 80,614,510 (GRCm39) I510T probably damaging Het
Hace1 T A 10: 45,546,539 (GRCm39) I391N possibly damaging Het
Il1rap A G 16: 26,529,256 (GRCm39) T310A probably benign Het
Itpr3 T C 17: 27,305,934 (GRCm39) I164T probably damaging Het
Kcnk4 T C 19: 6,905,697 (GRCm39) N90S probably benign Het
Krt40 G A 11: 99,433,920 (GRCm39) A22V possibly damaging Het
Lamc1 A T 1: 153,099,412 (GRCm39) D1520E probably benign Het
Lrrc37 A T 11: 103,504,214 (GRCm39) L2585I probably damaging Het
Mipep T A 14: 61,109,554 (GRCm39) W644R probably damaging Het
Mycl A G 4: 122,893,713 (GRCm39) D171G probably damaging Het
Myh7b C T 2: 155,473,719 (GRCm39) A1584V possibly damaging Het
Nf1 A G 11: 79,456,801 (GRCm39) Y629C probably damaging Het
Obscn T A 11: 58,888,033 (GRCm39) E2164V probably damaging Het
Or52h1 A T 7: 103,828,961 (GRCm39) V218D possibly damaging Het
Or5b118 T C 19: 13,449,104 (GRCm39) Y257H probably damaging Het
Or5w19 T C 2: 87,698,904 (GRCm39) S190P possibly damaging Het
Or6c209 T C 10: 129,483,165 (GRCm39) M56T probably benign Het
Or8k25 T C 2: 86,243,551 (GRCm39) I282V probably damaging Het
Pcdh20 T C 14: 88,705,488 (GRCm39) E604G probably benign Het
Pilra T C 5: 137,821,763 (GRCm39) T291A possibly damaging Het
Ppp1r9a G T 6: 5,077,610 (GRCm39) D630Y probably damaging Het
Pros1 A C 16: 62,719,284 (GRCm39) Q102P possibly damaging Het
Rad21l T C 2: 151,495,462 (GRCm39) D407G probably benign Het
Rapgef5 G A 12: 117,703,453 (GRCm39) probably null Het
Rbm25 G A 12: 83,706,200 (GRCm39) A182T probably benign Het
Rnf13 A G 3: 57,740,391 (GRCm39) E236G possibly damaging Het
Robo3 T G 9: 37,332,225 (GRCm39) Y891S probably damaging Het
Rsrp1 T A 4: 134,654,113 (GRCm39) I255K probably damaging Het
Scn1a T A 2: 66,107,962 (GRCm39) Y1588F possibly damaging Het
Sdr16c6 T A 4: 4,069,984 (GRCm39) I119F probably damaging Het
Shoc1 T A 4: 59,076,245 (GRCm39) D566V possibly damaging Het
Slc12a7 T C 13: 73,953,590 (GRCm39) S767P possibly damaging Het
Slc23a1 A G 18: 35,757,497 (GRCm39) I258T probably damaging Het
Spata13 G A 14: 60,929,456 (GRCm39) R338H probably benign Het
Sufu G A 19: 46,464,071 (GRCm39) G428R probably damaging Het
Sult2a1 T C 7: 13,566,600 (GRCm39) D125G probably damaging Het
Tapbp T C 17: 34,138,956 (GRCm39) L41P probably damaging Het
Tbc1d16 T A 11: 119,101,391 (GRCm39) K40* probably null Het
Tdrd6 A G 17: 43,940,643 (GRCm39) V135A probably damaging Het
Tenm3 A C 8: 48,870,094 (GRCm39) V233G probably damaging Het
Tmem87a A T 2: 120,222,656 (GRCm39) probably null Het
Tspan11 T C 6: 127,915,227 (GRCm39) Y114H probably damaging Het
Ttn T A 2: 76,567,997 (GRCm39) Y27632F probably benign Het
Usp44 G A 10: 93,686,202 (GRCm39) C539Y probably damaging Het
Vmn2r73 G A 7: 85,519,099 (GRCm39) P508S probably benign Het
Zfp831 A G 2: 174,488,490 (GRCm39) D1055G possibly damaging Het
Zfp871 CCACAC CC 17: 32,994,494 (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
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
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
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 2018-02-28