Incidental Mutation 'R4164:Defb41'
ID 321639
Institutional Source Beutler Lab
Gene Symbol Defb41
Ensembl Gene ENSMUSG00000067773
Gene Name defensin beta 41
Synonyms 9230102D03Rik, Gm15386
MMRRC Submission 041638-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # R4164 (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: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 89% (40/45)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap1 C T 11: 69,780,863 (GRCm39) A164T probably benign Het
Ash1l A G 3: 88,889,273 (GRCm39) D384G probably damaging Het
Cntn5 A G 9: 9,781,681 (GRCm39) V666A probably damaging Het
Dennd4c C A 4: 86,725,764 (GRCm39) N739K probably benign Het
Dnah6 C T 6: 73,066,575 (GRCm39) W2598* probably null Het
Ell G T 8: 71,034,223 (GRCm39) R30L probably damaging Het
Entrep1 G A 19: 23,952,993 (GRCm39) A439V probably damaging Het
Entrep1 C T 19: 23,953,002 (GRCm39) S436N probably damaging Het
Fer1l6 A C 15: 58,431,087 (GRCm39) R247S possibly damaging Het
Flnb A T 14: 7,915,374 (GRCm38) I1502F possibly damaging Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gm2223 C T X: 32,943,247 (GRCm39) noncoding transcript Het
Ifi203 A T 1: 173,756,029 (GRCm39) probably benign Het
Ighm T A 12: 113,385,915 (GRCm39) E108V unknown Het
Il23r T A 6: 67,400,647 (GRCm39) Q561L probably benign Het
Kank1 A G 19: 25,388,436 (GRCm39) D703G probably benign Het
Kcnt2 A T 1: 140,537,368 (GRCm39) Y1109F probably damaging Het
Lamb2 T A 9: 108,367,497 (GRCm39) Y1760N probably damaging Het
Lrpprc T C 17: 85,038,617 (GRCm39) E950G possibly damaging Het
Lrrc66 T A 5: 73,787,119 (GRCm39) probably null Het
Mtbp T C 15: 55,472,917 (GRCm39) V627A probably benign Het
Myo10 T A 15: 25,726,501 (GRCm39) probably null Het
Nfix CAAAAA CAAAA 8: 85,442,876 (GRCm39) probably null Het
Nipbl T C 15: 8,368,418 (GRCm39) N1142S probably benign Het
Nrxn2 G A 19: 6,582,173 (GRCm39) V660I probably damaging Het
Oas1c T C 5: 120,946,204 (GRCm39) E98G probably damaging Het
Or8a1b T G 9: 37,622,994 (GRCm39) I194L probably benign Het
Otx1 A G 11: 21,946,638 (GRCm39) probably benign Het
Prkcd A G 14: 30,323,154 (GRCm39) F461L probably damaging Het
Prune2 T C 19: 16,981,098 (GRCm39) F85S possibly damaging Het
Rnf214 G A 9: 45,783,210 (GRCm39) R184W probably damaging Het
Scn5a T C 9: 119,324,844 (GRCm39) N1328S probably damaging Het
Secisbp2l T C 2: 125,593,803 (GRCm39) probably benign Het
Smarcal1 A G 1: 72,665,848 (GRCm39) probably benign Het
Snx21 T C 2: 164,628,770 (GRCm39) Y138H probably damaging Het
Sox5 T A 6: 144,062,206 (GRCm39) R149W probably damaging Het
Spout1 C T 2: 30,067,589 (GRCm39) probably benign Het
Tlr1 A G 5: 65,084,545 (GRCm39) C11R possibly damaging Het
Vmn2r23 A T 6: 123,706,697 (GRCm39) H509L 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
R2925:Defb41 UTSW 1 18,330,857 (GRCm39) missense probably damaging 0.98
R4162: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'- TGCTTGAGCTAGGACCACTTC -3'
(R):5'- CTGTTCCCAGCATTTGAGAATGG -3'

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