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: 0.051) question?
Stock # R2892 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 21624658-21625614 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to T at 21624679 bp (GRCm39)
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: 35,751,661 (GRCm39) D232G probably damaging Het
Ank2 T C 3: 127,041,892 (GRCm39) probably null Het
Atp6v0a4 T C 6: 38,029,952 (GRCm39) E704G probably benign Het
Bbx A G 16: 50,045,104 (GRCm39) Y378H probably damaging Het
Carmil3 T C 14: 55,735,770 (GRCm39) V574A probably damaging Het
Cpz A G 5: 35,668,473 (GRCm39) V379A probably damaging Het
Cyp4f15 A G 17: 32,905,182 (GRCm39) D55G probably benign Het
Dcun1d2 A T 8: 13,328,649 (GRCm39) I86N probably damaging Het
Fzd8 G T 18: 9,214,514 (GRCm39) G532V probably damaging Het
Gcfc2 T C 6: 81,933,894 (GRCm39) F717S possibly damaging Het
Gckr T C 5: 31,483,816 (GRCm39) V563A probably benign Het
Ighv1-24 T G 12: 114,736,679 (GRCm39) K74Q probably benign Het
Kcnj3 A T 2: 55,337,027 (GRCm39) I298F probably damaging Het
Miga2 A T 2: 30,268,306 (GRCm39) probably null Het
Mmrn2 T G 14: 34,118,587 (GRCm39) F158V probably benign Het
Mug1 G A 6: 121,817,029 (GRCm39) V33M possibly damaging Het
Myom1 T C 17: 71,341,648 (GRCm39) S136P probably damaging Het
Nadk A G 4: 155,671,817 (GRCm39) N232S possibly damaging Het
Or6c217 A G 10: 129,737,809 (GRCm39) Y257H possibly damaging Het
Or7g27 A G 9: 19,250,034 (GRCm39) T93A probably benign Het
Pcnx2 A G 8: 126,617,797 (GRCm39) S153P probably damaging Het
Pde8b T C 13: 95,170,767 (GRCm39) D633G probably damaging Het
Pik3ap1 G A 19: 41,364,500 (GRCm39) A73V probably benign Het
Plrg1 C A 3: 82,978,547 (GRCm39) Q438K probably damaging Het
Plxna4 A G 6: 32,493,972 (GRCm39) Y215H probably damaging Het
Rapsn A T 2: 90,867,169 (GRCm39) D157V probably damaging Het
Rock1 G A 18: 10,072,863 (GRCm39) Q1161* probably null Het
Snrnp200 T C 2: 127,073,697 (GRCm39) L1365P probably damaging Het
Srcap T C 7: 127,138,237 (GRCm39) S1136P probably damaging Het
Trim80 A G 11: 115,338,849 (GRCm39) T560A possibly damaging Het
Ttll2 T C 17: 7,620,098 (GRCm39) probably null Het
Usp8 A T 2: 126,600,075 (GRCm39) Q998L probably damaging Het
Vpreb3 C T 10: 75,779,056 (GRCm39) probably benign Het
Zfp82 G A 7: 29,755,864 (GRCm39) T406I probably damaging Het
Other mutations in Defa30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00485:Defa30 APN 8 21,625,467 (GRCm39) missense probably benign 0.04
R0779:Defa30 UTSW 8 21,624,691 (GRCm39) missense probably benign
R1476:Defa30 UTSW 8 21,624,752 (GRCm39) missense possibly damaging 0.69
R1716:Defa30 UTSW 8 21,625,431 (GRCm39) missense probably damaging 1.00
R1854:Defa30 UTSW 8 21,625,500 (GRCm39) missense probably damaging 0.98
R4356:Defa30 UTSW 8 21,624,821 (GRCm39) missense possibly damaging 0.93
R4986:Defa30 UTSW 8 21,625,432 (GRCm39) nonsense probably null
R5428:Defa30 UTSW 8 21,625,419 (GRCm39) missense probably benign 0.00
R7046:Defa30 UTSW 8 21,625,471 (GRCm39) missense probably benign 0.14
R7420:Defa30 UTSW 8 21,625,471 (GRCm39) missense probably benign 0.14
R8305:Defa30 UTSW 8 21,625,475 (GRCm39) missense probably benign 0.25
R8316:Defa30 UTSW 8 21,624,709 (GRCm39) missense probably benign 0.01
R9375:Defa30 UTSW 8 21,624,686 (GRCm39) 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