Incidental Mutation 'R6647:Defa25'
ID 526132
Institutional Source Beutler Lab
Gene Symbol Defa25
Ensembl Gene ENSMUSG00000094687
Gene Name defensin, alpha, 25
Synonyms Defcr25
MMRRC Submission 044768-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R6647 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 21574458-21575301 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 21575201 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 60 (D60V)
Ref Sequence ENSEMBL: ENSMUSP00000093075 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095425]
AlphaFold Q5G864
Predicted Effect possibly damaging
Transcript: ENSMUST00000095425
AA Change: D60V

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000093075
Gene: ENSMUSG00000094687
AA Change: D60V

DomainStartEndE-ValueType
Pfam:Defensin_propep 1 51 8.4e-24 PFAM
DEFSN 63 92 1.42e-6 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.6%
Validation Efficiency 98% (53/54)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl T C 3: 116,544,060 (GRCm39) T1416A probably damaging Het
Atp7b A G 8: 22,518,494 (GRCm39) S103P probably damaging Het
Ces1h A C 8: 94,078,654 (GRCm39) *563G probably null Het
Cfap157 G T 2: 32,669,086 (GRCm39) A339E probably benign Het
Crebbp C T 16: 3,937,670 (GRCm39) A698T possibly damaging Het
Cyp2b13 A G 7: 25,785,324 (GRCm39) H231R possibly damaging Het
Ddx31 A T 2: 28,765,750 (GRCm39) T483S probably damaging Het
Dnah5 G A 15: 28,403,633 (GRCm39) A3453T probably benign Het
Dnah6 A T 6: 73,115,743 (GRCm39) F1500I probably damaging Het
Eprs1 C T 1: 185,146,621 (GRCm39) A1217V probably damaging Het
Ermp1 T C 19: 29,604,335 (GRCm39) Y481C probably benign Het
Fmn2 T A 1: 174,420,670 (GRCm39) N635K unknown Het
Fras1 A G 5: 96,883,061 (GRCm39) D2531G probably damaging Het
Frat1 C T 19: 41,819,264 (GRCm39) Q220* probably null Het
Gcc2 T A 10: 58,123,103 (GRCm39) probably null Het
Gm3285 T C 10: 77,698,447 (GRCm39) probably benign Het
Gm9857 T C 3: 108,847,379 (GRCm39) probably benign Het
Grin2b C A 6: 135,710,108 (GRCm39) W1146L probably damaging Het
Hells T A 19: 38,919,948 (GRCm39) L33I probably benign Het
Ift81 T A 5: 122,748,229 (GRCm39) R54* probably null Het
Ints12 G A 3: 132,802,639 (GRCm39) R41Q possibly damaging Het
Katnal2 C T 18: 77,067,733 (GRCm39) E403K probably benign Het
Kcnk1 A G 8: 126,722,199 (GRCm39) M1V probably null Het
Kdm5a A G 6: 120,389,422 (GRCm39) T950A probably benign Het
Kdr G A 5: 76,113,549 (GRCm39) A773V probably damaging Het
Lats1 G C 10: 7,573,271 (GRCm39) M118I possibly damaging Het
Mug1 A G 6: 121,817,200 (GRCm39) I90V probably benign Het
Nid2 A G 14: 19,852,484 (GRCm39) D1064G probably benign Het
Nkx2-4 A T 2: 146,926,187 (GRCm39) I225N possibly damaging Het
Nlrp4e A G 7: 23,020,740 (GRCm39) D409G probably benign Het
Ogfod2 G C 5: 124,252,866 (GRCm39) R292P possibly damaging Het
Oprk1 C T 1: 5,672,507 (GRCm39) P215S probably damaging Het
Or5d36 A T 2: 87,901,053 (GRCm39) F224L probably benign Het
Or6c35 T A 10: 129,169,033 (GRCm39) C94* probably null Het
Or7g27 T A 9: 19,249,925 (GRCm39) H56Q possibly damaging Het
Or8g21 T C 9: 38,906,210 (GRCm39) I174V possibly damaging Het
Pcdhb16 A G 18: 37,612,225 (GRCm39) K395R possibly damaging Het
Ptprg C A 14: 11,962,714 (GRCm38) P171T probably damaging Het
Pycard T C 7: 127,592,741 (GRCm39) T29A probably benign Het
Rap1gap2 G A 11: 74,298,754 (GRCm39) A452V probably benign Het
Rasgrf1 C G 9: 89,892,516 (GRCm39) T1072S probably benign Het
Rc3h2 G A 2: 37,272,956 (GRCm39) R707* probably null Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Het
Senp7 T C 16: 55,993,618 (GRCm39) I767T probably damaging Het
Setd7 A G 3: 51,450,183 (GRCm39) V81A probably benign Het
Shisal2a A G 4: 108,225,224 (GRCm39) S113P probably benign Het
Shkbp1 A G 7: 27,041,800 (GRCm39) S685P probably benign Het
Snrnp200 A G 2: 127,068,372 (GRCm39) E904G probably damaging Het
Spata22 T A 11: 73,245,526 (GRCm39) probably null Het
Spata31e2 T A 1: 26,721,659 (GRCm39) N1174Y probably damaging Het
Tas2r138 G T 6: 40,589,733 (GRCm39) T171K possibly damaging Het
Tor1aip1 T C 1: 155,893,999 (GRCm39) D77G possibly damaging Het
Vav3 A T 3: 109,434,732 (GRCm39) H421L probably benign Het
Vmn1r43 A G 6: 89,846,841 (GRCm39) L215P probably damaging Het
Vmn2r100 T A 17: 19,742,785 (GRCm39) S386R probably benign Het
Xpa T A 4: 46,183,089 (GRCm39) R233S probably benign Het
Other mutations in Defa25
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00558:Defa25 APN 8 21,575,281 (GRCm39) missense possibly damaging 0.87
R2960:Defa25 UTSW 8 21,575,273 (GRCm39) missense probably benign 0.00
R3945:Defa25 UTSW 8 21,574,506 (GRCm39) missense probably null 0.36
R3946:Defa25 UTSW 8 21,574,506 (GRCm39) missense probably null 0.36
R4020:Defa25 UTSW 8 21,575,245 (GRCm39) missense probably benign 0.02
R6208:Defa25 UTSW 8 21,575,197 (GRCm39) critical splice acceptor site probably null
R7248:Defa25 UTSW 8 21,575,216 (GRCm39) missense probably damaging 0.98
R7681:Defa25 UTSW 8 21,574,535 (GRCm39) missense probably benign 0.39
R8031:Defa25 UTSW 8 21,575,253 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- ACACCCCTGAAGTGTGTTG -3'
(R):5'- CTGTCAGCTAAGGTGTCCAAG -3'

Sequencing Primer
(F):5'- GTTGGTTGAGATGTCCTTGCTGAAG -3'
(R):5'- GTCAGCTAAGGTGTCCAAGTATTAAG -3'
Posted On 2018-06-22