Incidental Mutation 'R1242:Defb30'
ID 152049
Institutional Source Beutler Lab
Gene Symbol Defb30
Ensembl Gene ENSMUSG00000075571
Gene Name defensin beta 30
Synonyms 4930449O14Rik, 2410125J01Rik
MMRRC Submission 039309-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1242 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 63271536-63275313 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 63273455 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 53 (Y53N)
Ref Sequence ENSEMBL: ENSMUSP00000106840 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100490] [ENSMUST00000111207] [ENSMUST00000111208] [ENSMUST00000111209]
AlphaFold Q30KN4
Predicted Effect probably benign
Transcript: ENSMUST00000100490
AA Change: Y52N

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000098059
Gene: ENSMUSG00000075571
AA Change: Y52N

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Defensin_beta_2 34 63 1.5e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111207
AA Change: Y52N

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000106838
Gene: ENSMUSG00000075571
AA Change: Y52N

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Defensin_beta_2 34 63 1.5e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111208
AA Change: Y53N

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000106839
Gene: ENSMUSG00000075571
AA Change: Y53N

DomainStartEndE-ValueType
Pfam:Defensin_beta_2 35 64 1.8e-13 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111209
AA Change: Y53N

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000106840
Gene: ENSMUSG00000075571
AA Change: Y53N

DomainStartEndE-ValueType
Pfam:Defensin_beta_2 35 64 1.8e-13 PFAM
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bbs7 A G 3: 36,632,576 (GRCm39) F549L probably damaging Het
Cmc2 T C 8: 117,637,937 (GRCm39) D4G probably damaging Het
Cnr2 T A 4: 135,644,294 (GRCm39) L124Q probably damaging Het
Cobll1 T C 2: 64,981,513 (GRCm39) probably null Het
Dtnb T A 12: 3,782,627 (GRCm39) Y363* probably null Het
Fam170a A G 18: 50,415,206 (GRCm39) E284G probably damaging Het
Gm16505 T A 13: 3,411,109 (GRCm39) noncoding transcript Het
Gtf2h1 T C 7: 46,462,175 (GRCm39) probably null Het
Gucy1a1 C T 3: 82,013,260 (GRCm39) probably null Het
Hfm1 T A 5: 107,022,767 (GRCm39) N945I probably damaging Het
Hpse2 G A 19: 42,955,416 (GRCm39) T327I probably benign Het
Il3 T C 11: 54,157,929 (GRCm39) I50V probably benign Het
Mgat5b A G 11: 116,869,230 (GRCm39) K591R probably benign Het
Nup214 C T 2: 31,867,782 (GRCm39) T83I probably benign Het
Or2v2 A T 11: 49,003,728 (GRCm39) V275E possibly damaging Het
Rp1 T A 1: 4,415,185 (GRCm39) I1976F probably benign Het
Sardh T A 2: 27,125,575 (GRCm39) D313V probably damaging Het
Tent5c A T 3: 100,380,192 (GRCm39) L188Q probably damaging Het
Vmn1r173 C T 7: 23,402,650 (GRCm39) P295L probably damaging Het
Vmn1r38 A C 6: 66,753,344 (GRCm39) Y257* probably null Het
Xkr4 T A 1: 3,286,360 (GRCm39) D610V probably damaging Het
Other mutations in Defb30
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0620:Defb30 UTSW 14 63,287,212 (GRCm39) unclassified probably benign
R3980:Defb30 UTSW 14 63,273,421 (GRCm39) missense probably damaging 1.00
R4537:Defb30 UTSW 14 63,273,525 (GRCm39) missense probably damaging 1.00
R5046:Defb30 UTSW 14 63,273,463 (GRCm39) missense probably benign 0.00
R5396:Defb30 UTSW 14 63,273,559 (GRCm39) splice site probably null
R6388:Defb30 UTSW 14 63,287,213 (GRCm39) unclassified probably benign
R6864:Defb30 UTSW 14 63,273,552 (GRCm39) critical splice acceptor site probably null
R8059:Defb30 UTSW 14 63,273,383 (GRCm39) makesense probably null
R8236:Defb30 UTSW 14 63,287,216 (GRCm39) missense unknown
R9383:Defb30 UTSW 14 63,273,463 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CAAACTTGCTTCCAGTGTGTTCACC -3'
(R):5'- ACCACCGAAACTTCTTCACTGTCTG -3'

Sequencing Primer
(F):5'- AGTGTGTTCACCAGCCCTG -3'
(R):5'- TGGCTGCAAGCTGAATATACC -3'
Posted On 2014-01-29