Incidental Mutation 'IGL02739:Defb36'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Defb36
Ensembl Gene ENSMUSG00000044863
Gene Namedefensin beta 36
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.064) question?
Stock #IGL02739
Quality Score
Chromosomal Location152604327-152612729 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 152604519 bp
Amino Acid Change Leucine to Proline at position 11 (L11P)
Ref Sequence ENSEMBL: ENSMUSP00000059665 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058086]
Predicted Effect unknown
Transcript: ENSMUST00000058086
AA Change: L11P
SMART Domains Protein: ENSMUSP00000059665
Gene: ENSMUSG00000044863
AA Change: L11P

signal peptide 1 22 N/A INTRINSIC
Pfam:Defensin_beta_2 24 53 4.9e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000117342
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A T 5: 76,878,517 C887S possibly damaging Het
Adamdec1 C A 14: 68,570,156 E352* probably null Het
Bglap2 A T 3: 88,378,012 probably null Het
Bsn A T 9: 108,112,546 H2002Q probably benign Het
Chtop T A 3: 90,502,250 Q165L possibly damaging Het
Clcn1 A T 6: 42,286,780 probably null Het
Ctsr T C 13: 61,161,844 T184A probably benign Het
Dock8 A G 19: 25,188,488 E1912G probably damaging Het
Dpp3 A G 19: 4,923,728 Y106H probably damaging Het
Epas1 A G 17: 86,805,282 T103A probably damaging Het
Epcam A T 17: 87,640,494 T131S probably benign Het
Fam169a A G 13: 97,094,055 probably benign Het
Gh T A 11: 106,301,733 probably benign Het
Kif20a A T 18: 34,628,943 K399* probably null Het
Lrp1b A G 2: 41,498,215 I466T probably damaging Het
Nlk A G 11: 78,574,851 V409A probably benign Het
Nomo1 A G 7: 46,044,307 probably null Het
Nr2c1 T A 10: 94,156,972 M16K probably damaging Het
Nxph2 A T 2: 23,399,900 Q88L probably benign Het
Olfr33 A G 7: 102,714,314 I33T possibly damaging Het
Pkdrej T A 15: 85,819,694 R680S probably benign Het
Pkhd1l1 A T 15: 44,540,950 N2325I probably benign Het
Pnliprp2 T C 19: 58,760,509 probably null Het
Ppp1r42 T A 1: 9,968,853 K347N probably benign Het
Prtg T C 9: 72,851,585 V407A possibly damaging Het
Psmb8 C A 17: 34,200,754 S194* probably null Het
Rnf214 T C 9: 45,869,474 I406V probably benign Het
Rreb1 C T 13: 37,893,821 S3L probably damaging Het
Sdad1 C T 5: 92,290,072 A539T probably benign Het
Sema3a A G 5: 13,451,161 Y57C probably damaging Het
Susd5 A G 9: 114,096,033 E328G possibly damaging Het
Syngr3 T C 17: 24,686,398 T175A probably damaging Het
Tcf20 T A 15: 82,856,080 Q390L probably damaging Het
Tex15 A G 8: 33,581,693 T2423A possibly damaging Het
Tlr1 T C 5: 64,927,126 N36S probably benign Het
Uchl4 C T 9: 64,235,537 T100M probably damaging Het
Uhrf1 A G 17: 56,305,129 K11R probably benign Het
Vps13b T A 15: 35,879,900 D3040E probably damaging Het
Wdr62 A T 7: 30,242,460 Y640* probably null Het
Zkscan17 T G 11: 59,503,526 E83A probably damaging Het
Other mutations in Defb36
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0126:Defb36 UTSW 2 152612579 missense probably damaging 0.98
R5567:Defb36 UTSW 2 152612583 missense probably damaging 0.98
R5570:Defb36 UTSW 2 152612583 missense probably damaging 0.98
R6083:Defb36 UTSW 2 152604488 start codon destroyed unknown
R6300:Defb36 UTSW 2 152612498 missense probably damaging 0.99
Posted On2015-04-16