Incidental Mutation 'R3945:Defa25'
ID307653
Institutional Source Beutler Lab
Gene Symbol Defa25
Ensembl Gene ENSMUSG00000094687
Gene Namedefensin, alpha, 25
SynonymsDefcr25
MMRRC Submission 040926-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.078) question?
Stock #R3945 (G1)
Quality Score123
Status Validated
Chromosome8
Chromosomal Location21084442-21085285 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 21084490 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 17 (V17I)
Ref Sequence ENSEMBL: ENSMUSP00000093075 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095425]
Predicted Effect probably null
Transcript: ENSMUST00000095425
AA Change: V17I

PolyPhen 2 Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000093075
Gene: ENSMUSG00000094687
AA Change: V17I

DomainStartEndE-ValueType
Pfam:Defensin_propep 1 51 8.4e-24 PFAM
DEFSN 63 92 1.42e-6 SMART
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (54/54)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik T C 11: 78,289,964 I2229T probably damaging Het
4930407I10Rik T C 15: 82,065,400 L1166P probably damaging Het
Actn4 T C 7: 28,912,236 probably null Het
Adamts17 A T 7: 67,120,939 E905V probably benign Het
Adck5 A G 15: 76,595,200 N485S probably damaging Het
Agr3 C A 12: 35,947,513 probably benign Het
Ankrd12 G A 17: 65,976,103 T1921I probably damaging Het
Ascl2 T C 7: 142,967,971 S247G probably benign Het
Atp7b T C 8: 22,020,864 E422G probably benign Het
C630050I24Rik C T 8: 107,119,262 R15* probably null Het
Cabin1 T G 10: 75,745,259 Q411P probably damaging Het
Chrne T C 11: 70,617,043 I277V possibly damaging Het
Coch A G 12: 51,601,812 probably null Het
Corin A G 5: 72,358,424 V429A probably damaging Het
Cpa3 A T 3: 20,225,117 N219K probably damaging Het
Creb3l1 T C 2: 91,991,211 E273G probably damaging Het
Csmd1 A C 8: 15,910,619 probably null Het
Ddx59 A G 1: 136,434,618 D527G probably damaging Het
Efs A G 14: 54,920,651 probably benign Het
Ern2 A G 7: 122,176,530 M447T probably benign Het
Fgfr2 C T 7: 130,177,755 E596K possibly damaging Het
Filip1 T C 9: 79,818,367 K990R probably benign Het
Ipo8 T A 6: 148,818,117 Q110L probably damaging Het
Kank4 T A 4: 98,771,280 I854F probably damaging Het
Mst1 G A 9: 108,084,853 C681Y probably damaging Het
Nr2c2 C T 6: 92,163,138 R464W probably damaging Het
Olfr1289 C T 2: 111,483,687 Q86* probably null Het
Olfr1496 A G 19: 13,781,422 E270G probably benign Het
Pde11a T C 2: 76,075,931 probably benign Het
Ptprq A G 10: 107,686,392 probably benign Het
Rcbtb1 G A 14: 59,224,776 probably null Het
Rpl37 G A 15: 5,117,694 R72H probably benign Het
Samd9l A T 6: 3,377,029 S77R possibly damaging Het
Sin3b A G 8: 72,733,439 D218G possibly damaging Het
Slc22a23 A G 13: 34,183,126 I633T probably damaging Het
Spen T C 4: 141,477,353 D1321G unknown Het
Ssh2 T C 11: 77,454,668 S1160P possibly damaging Het
Synrg T A 11: 84,023,406 D952E probably damaging Het
Tigd3 A G 19: 5,892,433 F223S probably damaging Het
Trim66 G A 7: 109,472,268 T608I possibly damaging Het
Trmt13 A G 3: 116,581,518 F447S probably damaging Het
Trpc2 T C 7: 102,088,279 I800T possibly damaging Het
Ugt3a2 A T 15: 9,370,098 I443F possibly damaging Het
Vamp2 C A 11: 69,089,174 P24Q unknown Het
Vmn1r113 A G 7: 20,787,712 Y143C probably benign Het
Vmn1r14 T A 6: 57,234,269 N277K probably benign Het
Vmn1r181 T A 7: 23,984,152 V14E probably damaging Het
Wdfy4 A T 14: 32,966,395 I3086N probably damaging Het
Zfp988 A C 4: 147,332,785 K559Q probably benign Het
Other mutations in Defa25
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00558:Defa25 APN 8 21085265 missense possibly damaging 0.87
R2960:Defa25 UTSW 8 21085257 missense probably benign 0.00
R3946:Defa25 UTSW 8 21084490 missense probably null 0.36
R4020:Defa25 UTSW 8 21085229 missense probably benign 0.02
R6208:Defa25 UTSW 8 21085181 critical splice acceptor site probably null
R6647:Defa25 UTSW 8 21085185 missense possibly damaging 0.63
R7248:Defa25 UTSW 8 21085200 missense probably damaging 0.98
R7681:Defa25 UTSW 8 21084519 missense probably benign 0.39
R8031:Defa25 UTSW 8 21085237 missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- TGCAGGGCCTCTTCATGATTATC -3'
(R):5'- TCCCTCCCTCAAGAGAATGC -3'

Sequencing Primer
(F):5'- CCTCTTCATGATTATCAGTGTCAGGG -3'
(R):5'- TGCAAGCATCCATCACACTGG -3'
Posted On2015-04-17