Incidental Mutation 'R6435:Defa24'
ID 518747
Institutional Source Beutler Lab
Gene Symbol Defa24
Ensembl Gene ENSMUSG00000064213
Gene Name defensin, alpha, 24
Synonyms Defcr24
MMRRC Submission 044573-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R6435 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 22224510-22225487 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 22224690 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 46 (F46L)
Ref Sequence ENSEMBL: ENSMUSP00000079376 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080533]
AlphaFold Q5G865
Predicted Effect possibly damaging
Transcript: ENSMUST00000080533
AA Change: F46L

PolyPhen 2 Score 0.597 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000079376
Gene: ENSMUSG00000064213
AA Change: F46L

DomainStartEndE-ValueType
Pfam:Defensin_propep 1 51 3e-26 PFAM
DEFSN 64 92 5.11e-8 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.2%
Validation Efficiency 100% (32/32)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl1 A T 2: 31,691,561 (GRCm39) T1027S possibly damaging Het
Ablim1 T C 19: 57,049,787 (GRCm39) I159V possibly damaging Het
Adcy1 A G 11: 7,111,367 (GRCm39) N886S possibly damaging Het
Baz1b G A 5: 135,266,799 (GRCm39) D1203N probably damaging Het
Chmp2a A T 7: 12,766,701 (GRCm39) Y72* probably null Het
Col6a1 A T 10: 76,546,957 (GRCm39) I755N unknown Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Gcn1 A T 5: 115,749,081 (GRCm39) probably null Het
Gfpt2 A G 11: 49,726,478 (GRCm39) S628G probably benign Het
Hsdl2 C A 4: 59,610,668 (GRCm39) Q222K unknown Het
Ighv1-9 T A 12: 114,547,206 (GRCm39) I111F probably benign Het
Itch G A 2: 155,051,049 (GRCm39) D579N probably benign Het
Jdp2 A T 12: 85,655,132 (GRCm39) K65M probably damaging Het
Kif15 A T 9: 122,815,556 (GRCm39) E222V probably damaging Het
Map1b A G 13: 99,652,871 (GRCm39) V42A probably damaging Het
Mecom T A 3: 30,034,398 (GRCm39) E426V probably damaging Het
Meiosin T C 7: 18,834,844 (GRCm39) probably benign Het
Mfsd6 G T 1: 52,748,603 (GRCm39) Y87* probably null Het
Mybpc2 A G 7: 44,155,481 (GRCm39) V924A possibly damaging Het
Naip6 A T 13: 100,431,249 (GRCm39) M1196K probably benign Het
Nscme3l T C 19: 5,553,446 (GRCm39) I112V probably benign Het
Or52n5 A G 7: 104,588,041 (GRCm39) M103V probably damaging Het
Pcdh9 G A 14: 94,125,280 (GRCm39) P297S probably benign Het
Pold1 G A 7: 44,188,202 (GRCm39) R559C probably damaging Het
Rgs21 A G 1: 144,395,565 (GRCm39) F108L probably damaging Het
Runx1 A T 16: 92,441,183 (GRCm39) S209T possibly damaging Het
Sdccag8 G T 1: 176,642,428 (GRCm39) probably benign Het
Smc1b C T 15: 84,976,232 (GRCm39) R825Q probably benign Het
Srgap1 T C 10: 121,636,732 (GRCm39) D741G possibly damaging Het
Srsf11 C T 3: 157,728,981 (GRCm39) probably benign Homo
Tsc1 G A 2: 28,566,464 (GRCm39) V627M probably benign Het
Vmn2r106 C T 17: 20,488,725 (GRCm39) C558Y probably damaging Het
Zfp612 A G 8: 110,815,952 (GRCm39) I347M probably damaging Het
Other mutations in Defa24
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00839:Defa24 APN 8 22,224,713 (GRCm39) missense probably damaging 1.00
R1705:Defa24 UTSW 8 22,224,617 (GRCm39) missense probably damaging 1.00
R4562:Defa24 UTSW 8 22,224,523 (GRCm39) start gained probably benign
R5510:Defa24 UTSW 8 22,224,612 (GRCm39) missense probably damaging 1.00
R6035:Defa24 UTSW 8 22,224,565 (GRCm39) missense probably benign
R6035:Defa24 UTSW 8 22,224,565 (GRCm39) missense probably benign
R6301:Defa24 UTSW 8 22,225,299 (GRCm39) missense probably benign 0.01
R7269:Defa24 UTSW 8 22,224,565 (GRCm39) missense probably benign
R7779:Defa24 UTSW 8 22,225,355 (GRCm39) missense probably benign
R7890:Defa24 UTSW 8 22,224,556 (GRCm39) missense probably damaging 1.00
R8930:Defa24 UTSW 8 22,225,373 (GRCm39) missense probably benign 0.01
R8932:Defa24 UTSW 8 22,225,373 (GRCm39) missense probably benign 0.01
R9339:Defa24 UTSW 8 22,224,559 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGCAGGCTGGATATTCACTCTC -3'
(R):5'- AATTAGAGTTGCTTTCCTCTCACTG -3'

Sequencing Primer
(F):5'- TGGATATTCACTCTCCACACACTGAG -3'
(R):5'- GAGTTGCTTTCCTCTCACTGTTACTG -3'
Posted On 2018-05-24