Incidental Mutation 'R5701:Defa28'
ID 450890
Institutional Source Beutler Lab
Gene Symbol Defa28
Ensembl Gene ENSMUSG00000074434
Gene Name defensin, alpha, 28
Synonyms Gm6696
MMRRC Submission 043181-MU
Accession Numbers
Essential gene? Not available question?
Stock # R5701 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 22072976-22073883 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 22073863 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 89 (Y89H)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098887]
AlphaFold D3Z1V9
Predicted Effect probably benign
Transcript: ENSMUST00000098887
AA Change: Y89H

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000096486
Gene: ENSMUSG00000074434
AA Change: Y89H

DomainStartEndE-ValueType
Pfam:Defensin_propep 1 51 1.5e-24 PFAM
DEFSN 67 94 4.09e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000168331
AA Change: Y89H

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000128706
Gene: ENSMUSG00000074434
AA Change: Y89H

DomainStartEndE-ValueType
Pfam:Defensin_propep 1 52 2.2e-28 PFAM
DEFSN 66 93 4.09e-7 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Armc8 A G 9: 99,378,202 (GRCm39) probably null Het
Asxl1 A G 2: 153,241,409 (GRCm39) E653G probably damaging Het
AW551984 G A 9: 39,504,118 (GRCm39) A616V probably benign Het
Birc6 T C 17: 75,004,420 (GRCm39) M4763T possibly damaging Het
Bltp1 T A 3: 36,975,509 (GRCm39) M727K probably benign Het
Cand2 T G 6: 115,774,893 (GRCm39) F1034V probably damaging Het
Ccdc80 T C 16: 44,936,741 (GRCm39) V722A possibly damaging Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Chrnd G A 1: 87,125,380 (GRCm39) V340I possibly damaging Het
Clip1 T C 5: 123,751,366 (GRCm39) probably benign Het
Csmd3 T C 15: 47,513,617 (GRCm39) E1920G probably damaging Het
Csmd3 A T 15: 48,403,729 (GRCm39) F194I probably damaging Het
D930048N14Rik T A 11: 51,544,556 (GRCm39) probably null Het
Dnah1 C T 14: 30,996,001 (GRCm39) G2705E probably damaging Het
Eci2 A T 13: 35,174,250 (GRCm39) S104T possibly damaging Het
Ep300 T C 15: 81,485,696 (GRCm39) S228P unknown Het
Gabrb2 T A 11: 42,378,201 (GRCm39) M139K probably damaging Het
Gbp4 T A 5: 105,266,265 (GRCm39) N592I possibly damaging Het
Gpr158 C T 2: 21,751,520 (GRCm39) R480C probably damaging Het
Gps1 A G 11: 120,676,008 (GRCm39) D71G probably benign Het
Hoxc9 T C 15: 102,890,313 (GRCm39) Y77H possibly damaging Het
Il9r T A 11: 32,143,263 (GRCm39) Y231F probably benign Het
Klhl1 A G 14: 96,438,816 (GRCm39) M494T probably benign Het
Kmt2c A G 5: 25,519,015 (GRCm39) V2365A probably benign Het
Kri1 T A 9: 21,192,425 (GRCm39) K241M possibly damaging Het
Macf1 A T 4: 123,397,018 (GRCm39) C928S probably damaging Het
Mcm2 T C 6: 88,870,073 (GRCm39) D32G probably damaging Het
Mex3d T C 10: 80,217,379 (GRCm39) T613A probably benign Het
Mptx2 G A 1: 173,102,414 (GRCm39) L92F probably benign Het
Myh9 T C 15: 77,675,964 (GRCm39) I241V probably benign Het
Myo6 C T 9: 80,165,809 (GRCm39) T398I probably damaging Het
Nckap1l G A 15: 103,381,195 (GRCm39) A366T probably benign Het
Or5m11 A G 2: 85,782,168 (GRCm39) T254A possibly damaging Het
Plscr5 A T 9: 92,087,564 (GRCm39) K178* probably null Het
Rapgef6 T C 11: 54,567,220 (GRCm39) W857R possibly damaging Het
Raxos1 G A 18: 66,071,059 (GRCm39) probably benign Het
Rnf145 G A 11: 44,422,120 (GRCm39) V68M possibly damaging Het
Slc66a2 T A 18: 80,315,693 (GRCm39) D118E possibly damaging Het
Synpo2 C G 3: 122,873,879 (GRCm39) G1029A probably damaging Het
Tbc1d5 TTGCTGCTGCTGCTGCTGCTGGTGCTGCTGCTGCTG TTGCTGCTGCTGCTGCTGGTGCTGCTGCTGCTG 17: 51,106,983 (GRCm39) probably benign Het
Vmn2r14 T C 5: 109,367,816 (GRCm39) Y392C probably damaging Het
Vmn2r55 A G 7: 12,404,492 (GRCm39) F304L probably benign Het
Zfp316 C T 5: 143,240,132 (GRCm39) G629D probably benign Het
Other mutations in Defa28
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1891:Defa28 UTSW 8 22,073,801 (GRCm39) missense probably damaging 0.99
R8893:Defa28 UTSW 8 22,073,840 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- GAAGTCTGTATTGTGGCCAAC -3'
(R):5'- GGTTTCCTAGAAGGTCCTGGTAC -3'

Sequencing Primer
(F):5'- GCACATTCATGCTGTATCACATATC -3'
(R):5'- GGTCCTGGTACTTTATATACAGAGCC -3'
Posted On 2017-01-03