Incidental Mutation 'R2925:Defb41'
ID 255685
Institutional Source Beutler Lab
Gene Symbol Defb41
Ensembl Gene ENSMUSG00000067773
Gene Name defensin beta 41
Synonyms 9230102D03Rik, Gm15386
MMRRC Submission 040510-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # R2925 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 18321204-18335362 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 18330857 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 30 (D30G)
Ref Sequence ENSEMBL: ENSMUSP00000095426 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088463] [ENSMUST00000097817]
AlphaFold Q30KP6
Predicted Effect probably benign
Transcript: ENSMUST00000088463
SMART Domains Protein: ENSMUSP00000085811
Gene: ENSMUSG00000067773

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Defensin_beta_2 31 61 2e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000097817
AA Change: D30G

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000095426
Gene: ENSMUSG00000067773
AA Change: D30G

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Defensin_beta_2 34 64 1.2e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186435
Meta Mutation Damage Score 0.1123 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 95% (40/42)
MGI Phenotype PHENOTYPE: Mice heterozygous for a knock-in allele do not exhibit any phenotypic abnormalities or fertility defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503E14Rik T C 14: 44,407,755 (GRCm39) T93A probably damaging Het
Acte1 A T 7: 143,437,736 (GRCm39) R147* probably null Het
Akr1c21 A G 13: 4,626,349 (GRCm39) probably null Het
Alk A G 17: 72,910,202 (GRCm39) V168A probably benign Het
Ap4b1 A G 3: 103,727,997 (GRCm39) E337G probably damaging Het
Bltp1 G T 3: 37,061,271 (GRCm39) A3327S probably damaging Het
Btn2a2 A G 13: 23,665,984 (GRCm39) S283P probably damaging Het
Ctcfl C T 2: 172,936,489 (GRCm39) E628K probably damaging Het
Cul9 G A 17: 46,821,907 (GRCm39) T1856M probably benign Het
Dnai1 A T 4: 41,597,919 (GRCm39) I74F probably damaging Het
Ecpas T A 4: 58,833,928 (GRCm39) K851* probably null Het
Fbln2 T A 6: 91,242,837 (GRCm39) C846S probably damaging Het
Fuom T C 7: 139,679,862 (GRCm39) T110A probably benign Het
Hsp90aa1 C A 12: 110,662,115 (GRCm39) probably null Het
Hsp90aa1 T A 12: 110,662,114 (GRCm39) M1L possibly damaging Het
Il12a TCAC TC 3: 68,605,320 (GRCm39) probably null Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Lyz3 C T 10: 117,070,336 (GRCm39) R147Q probably benign Het
Man2b2 A G 5: 36,981,446 (GRCm39) F224L probably benign Het
Mtbp G A 15: 55,483,210 (GRCm39) R429Q probably benign Het
Ncapg2 C A 12: 116,402,349 (GRCm39) T727K probably benign Het
Nek4 G A 14: 30,673,667 (GRCm39) G29S probably benign Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Nup214 A G 2: 31,888,015 (GRCm39) K15E probably damaging Het
Or5ac24 A T 16: 59,165,706 (GRCm39) Y119* probably null Het
Or5m11b T A 2: 85,806,125 (GRCm39) C179* probably null Het
Or8k32 C T 2: 86,368,891 (GRCm39) D121N probably damaging Het
Or9a4 T A 6: 40,548,342 (GRCm39) S7R probably benign Het
P2ry13 G A 3: 59,116,801 (GRCm39) H326Y probably benign Het
Plec A G 15: 76,062,452 (GRCm39) F2563S probably damaging Het
Rc3h1 A G 1: 160,782,546 (GRCm39) Y675C probably damaging Het
Samd3 T A 10: 26,127,785 (GRCm39) S288T probably benign Het
Scaf4 G T 16: 90,047,177 (GRCm39) P400Q unknown Het
Selplg T C 5: 113,958,240 (GRCm39) D22G possibly damaging Het
Slc30a6 T C 17: 74,708,999 (GRCm39) probably benign Het
Syt3 T A 7: 44,045,222 (GRCm39) V518E probably damaging Het
Tnks G A 8: 35,432,815 (GRCm39) A2V unknown Het
Upk3a A G 15: 84,902,350 (GRCm39) Y59C probably benign Het
Usp4 T C 9: 108,245,055 (GRCm39) L331P probably damaging Het
Zbed5 A G 5: 129,932,039 (GRCm39) T663A possibly damaging Het
Zbtb11 G A 16: 55,794,447 (GRCm39) R8Q probably benign Het
Other mutations in Defb41
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0054:Defb41 UTSW 1 18,321,471 (GRCm39) missense probably damaging 0.99
R0054:Defb41 UTSW 1 18,321,471 (GRCm39) missense probably damaging 0.99
R1067:Defb41 UTSW 1 18,335,248 (GRCm39) critical splice donor site probably null
R1515:Defb41 UTSW 1 18,330,817 (GRCm39) splice site probably null
R4162:Defb41 UTSW 1 18,330,821 (GRCm39) missense probably damaging 1.00
R4164:Defb41 UTSW 1 18,330,821 (GRCm39) missense probably damaging 1.00
R8523:Defb41 UTSW 1 18,321,519 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- TGGGAAGACTTAATGAGACTTGTTC -3'
(R):5'- TGTCCTTGAGCCATCACCAC -3'

Sequencing Primer
(F):5'- AGACTTAATGAGACTTGTTCTTCTTC -3'
(R):5'- ATCCCTTATATTAGGTGACAGCAAC -3'
Posted On 2014-12-29