Incidental Mutation 'R4162:Defb41'
ID 321547
Institutional Source Beutler Lab
Gene Symbol Defb41
Ensembl Gene ENSMUSG00000067773
Gene Name defensin beta 41
Synonyms 9230102D03Rik, Gm15386
MMRRC Submission 041005-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # R4162 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 18321204-18335362 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 18330821 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 42 (C42Y)
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: C42Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000095426
Gene: ENSMUSG00000067773
AA Change: C42Y

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 0.5425 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.3%
Validation Efficiency 93% (38/41)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1l2 T A 10: 83,342,518 (GRCm39) I431F possibly damaging Het
Atrn A G 2: 130,836,148 (GRCm39) probably benign Het
Cep57 C T 9: 13,723,929 (GRCm39) probably null Het
Cgas G A 9: 78,341,686 (GRCm39) R364C probably damaging Het
Cybc1 T C 11: 121,115,492 (GRCm39) D109G probably damaging Het
Dnah3 C T 7: 119,522,061 (GRCm39) G4033D probably damaging Het
Flnb A T 14: 7,915,374 (GRCm38) I1502F possibly damaging Het
Gli3 G T 13: 15,899,700 (GRCm39) S1029I possibly damaging Het
Gm10722 A C 9: 3,001,041 (GRCm39) Y39S probably benign Het
Gm5592 A G 7: 40,867,202 (GRCm39) probably benign Het
Grin2d T C 7: 45,507,042 (GRCm39) K478E probably damaging Het
Il18 T C 9: 50,490,712 (GRCm39) S116P probably damaging Het
Itsn1 C A 16: 91,649,790 (GRCm39) P155T probably benign Het
Kdm5b C T 1: 134,552,899 (GRCm39) P1292S probably benign Het
Mef2b T C 8: 70,618,961 (GRCm39) F181S probably damaging Het
Mfn1 T C 3: 32,617,147 (GRCm39) probably benign Het
Mfsd12 A G 10: 81,196,931 (GRCm39) probably null Het
Myo10 T A 15: 25,726,501 (GRCm39) probably null Het
Nrxn2 G A 19: 6,582,173 (GRCm39) V660I probably damaging Het
Nsun4 G T 4: 115,891,391 (GRCm39) Y329* probably null Het
Pank4 T C 4: 155,064,051 (GRCm39) probably null Het
Plcb2 T A 2: 118,540,068 (GRCm39) E1075V probably damaging Het
Prep G T 10: 44,943,458 (GRCm39) R11L possibly damaging Het
Prkcd A G 14: 30,323,154 (GRCm39) F461L probably damaging Het
Saxo5 C T 8: 3,529,067 (GRCm39) P214L probably damaging Het
Snx21 T C 2: 164,628,770 (GRCm39) Y138H probably damaging Het
Spout1 C T 2: 30,067,589 (GRCm39) probably benign Het
Tex15 T C 8: 34,071,586 (GRCm39) S2378P probably damaging Het
Thap12 C T 7: 98,359,285 (GRCm39) probably benign Het
Trav3-1 T C 14: 52,818,496 (GRCm39) Y57H probably damaging Het
Ttc39c A G 18: 12,857,994 (GRCm39) probably null Het
Tubgcp3 C T 8: 12,689,547 (GRCm39) R573Q possibly damaging Het
Ush2a A C 1: 188,475,877 (GRCm39) K2938T probably benign Het
Vasp A T 7: 18,993,397 (GRCm39) probably null Het
Zfhx3 C A 8: 109,683,619 (GRCm39) T3686K unknown 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
R2925:Defb41 UTSW 1 18,330,857 (GRCm39) missense probably damaging 0.98
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'- GCTTGAGCTAGGACCACTTCTG -3'
(R):5'- TGTTCCCAGCATTTGAGAATGG -3'

Sequencing Primer
(F):5'- GAGCTAGGACCACTTCTGAAAAATTC -3'
(R):5'- GAATGGTCATCCTATAATCCTTTGTC -3'
Posted On 2015-06-12