Incidental Mutation 'R2892:Defa30'
ID 260129
Institutional Source Beutler Lab
Gene Symbol Defa30
Ensembl Gene ENSMUSG00000074444
Gene Name defensin, alpha, 30
Synonyms Gm15284
MMRRC Submission 040480-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R2892 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 21134642-21135598 bp(+) (GRCm38)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to T at 21134663 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 1 (M1L)
Ref Sequence ENSEMBL: ENSMUSP00000096497 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098898]
AlphaFold E9QPZ2
Predicted Effect probably damaging
Transcript: ENSMUST00000098898
AA Change: M1L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000096497
Gene: ENSMUSG00000074444
AA Change: M1L

DomainStartEndE-ValueType
Pfam:Defensin_propep 1 51 4.9e-27 PFAM
DEFSN 64 92 2.94e-8 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox3 A G 5: 35,594,317 D232G probably damaging Het
Ank2 T C 3: 127,248,243 probably null Het
Atp6v0a4 T C 6: 38,053,017 E704G probably benign Het
Bbx A G 16: 50,224,741 Y378H probably damaging Het
Carmil3 T C 14: 55,498,313 V574A probably damaging Het
Cpz A G 5: 35,511,129 V379A probably damaging Het
Cyp4f15 A G 17: 32,686,208 D55G probably benign Het
Dcun1d2 A T 8: 13,278,649 I86N probably damaging Het
Fzd8 G T 18: 9,214,514 G532V probably damaging Het
Gcfc2 T C 6: 81,956,913 F717S possibly damaging Het
Gckr T C 5: 31,326,472 V563A probably benign Het
Ighv1-24 T G 12: 114,773,059 K74Q probably benign Het
Kcnj3 A T 2: 55,447,015 I298F probably damaging Het
Miga2 A T 2: 30,378,294 probably null Het
Mmrn2 T G 14: 34,396,630 F158V probably benign Het
Mug1 G A 6: 121,840,070 V33M possibly damaging Het
Myom1 T C 17: 71,034,653 S136P probably damaging Het
Nadk A G 4: 155,587,360 N232S possibly damaging Het
Olfr815 A G 10: 129,901,940 Y257H possibly damaging Het
Olfr845 A G 9: 19,338,738 T93A probably benign Het
Pcnx2 A G 8: 125,891,058 S153P probably damaging Het
Pde8b T C 13: 95,034,259 D633G probably damaging Het
Pik3ap1 G A 19: 41,376,061 A73V probably benign Het
Plrg1 C A 3: 83,071,240 Q438K probably damaging Het
Plxna4 A G 6: 32,517,037 Y215H probably damaging Het
Rapsn A T 2: 91,036,824 D157V probably damaging Het
Rock1 G A 18: 10,072,863 Q1161* probably null Het
Snrnp200 T C 2: 127,231,777 L1365P probably damaging Het
Srcap T C 7: 127,539,065 S1136P probably damaging Het
Trim80 A G 11: 115,448,023 T560A possibly damaging Het
Ttll2 T C 17: 7,352,699 probably null Het
Usp8 A T 2: 126,758,155 Q998L probably damaging Het
Vpreb3 C T 10: 75,943,222 probably benign Het
Zfp82 G A 7: 30,056,439 T406I probably damaging Het
Other mutations in Defa30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00485:Defa30 APN 8 21135451 missense probably benign 0.04
R0779:Defa30 UTSW 8 21134675 missense probably benign
R1476:Defa30 UTSW 8 21134736 missense possibly damaging 0.69
R1716:Defa30 UTSW 8 21135415 missense probably damaging 1.00
R1854:Defa30 UTSW 8 21135484 missense probably damaging 0.98
R4356:Defa30 UTSW 8 21134805 missense possibly damaging 0.93
R4986:Defa30 UTSW 8 21135416 nonsense probably null
R5428:Defa30 UTSW 8 21135403 missense probably benign 0.00
R7046:Defa30 UTSW 8 21135455 missense probably benign 0.14
R7420:Defa30 UTSW 8 21135455 missense probably benign 0.14
R8305:Defa30 UTSW 8 21135459 missense probably benign 0.25
R8316:Defa30 UTSW 8 21134693 missense probably benign 0.01
R9375:Defa30 UTSW 8 21134670 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACACAATGATGGTAGCCTTGAG -3'
(R):5'- GCAGAATGCAAGCATCCATC -3'

Sequencing Primer
(F):5'- TAGCCTTGAGGACAAAGGAACATC -3'
(R):5'- CAATACTCACATTCCTCTTGAAGAG -3'
Posted On 2015-01-23