Incidental Mutation 'R5428:Defa30'
ID 427013
Institutional Source Beutler Lab
Gene Symbol Defa30
Ensembl Gene ENSMUSG00000074444
Gene Name defensin, alpha, 30
Synonyms Gm15284
MMRRC Submission 042994-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R5428 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 21624658-21625614 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 21625419 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 61 (D61G)
Ref Sequence ENSEMBL: ENSMUSP00000096497 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098898]
AlphaFold E9QPZ2
Predicted Effect probably benign
Transcript: ENSMUST00000098898
AA Change: D61G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000096497
Gene: ENSMUSG00000074444
AA Change: D61G

DomainStartEndE-ValueType
Pfam:Defensin_propep 1 51 4.9e-27 PFAM
DEFSN 64 92 2.94e-8 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 98% (62/63)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik G C 18: 6,635,918 (GRCm39) V324L probably benign Het
Abl2 T C 1: 156,469,681 (GRCm39) C982R probably damaging Het
Adgrl4 G A 3: 151,248,323 (GRCm39) C665Y probably damaging Het
Adra1d A G 2: 131,403,323 (GRCm39) S256P probably damaging Het
Aipl1 T A 11: 71,921,313 (GRCm39) Y194F probably benign Het
Arfgef1 C A 1: 10,231,060 (GRCm39) D1150Y probably damaging Het
Arl14epl A T 18: 47,059,387 (GRCm39) M1L possibly damaging Het
Colgalt1 G T 8: 72,075,420 (GRCm39) R442L probably damaging Het
Ctnnd1 C T 2: 84,447,133 (GRCm39) V371M probably damaging Het
Dach1 A G 14: 98,406,705 (GRCm39) V14A unknown Het
Dnaja2 A T 8: 86,266,804 (GRCm39) C308S probably benign Het
Emc4 A G 2: 112,197,700 (GRCm39) probably benign Het
Foxp1 A G 6: 98,993,592 (GRCm39) V104A probably damaging Het
Fry T G 5: 150,328,824 (GRCm39) L1319R possibly damaging Het
Gad1-ps G A 10: 99,281,009 (GRCm39) noncoding transcript Het
Gja10 T A 4: 32,601,169 (GRCm39) H405L probably benign Het
Gm27047 A G 6: 130,607,527 (GRCm39) noncoding transcript Het
Grm1 T A 10: 10,595,307 (GRCm39) T774S probably damaging Het
Gtse1 A C 15: 85,746,340 (GRCm39) D52A probably benign Het
Kctd17 T A 15: 78,312,982 (GRCm39) F42Y probably damaging Het
Kndc1 A G 7: 139,488,878 (GRCm39) K178E probably damaging Het
Lrrc74b T C 16: 17,376,125 (GRCm39) E175G probably damaging Het
Macf1 A G 4: 123,278,661 (GRCm39) I5927T probably damaging Het
Maml2 A G 9: 13,617,191 (GRCm39) N935S probably benign Het
Man2a1 A G 17: 65,019,295 (GRCm39) I720V probably benign Het
Map3k5 C T 10: 19,899,399 (GRCm39) H219Y possibly damaging Het
Map4k5 T C 12: 69,884,787 (GRCm39) T314A possibly damaging Het
Mast3 A G 8: 71,237,377 (GRCm39) V615A possibly damaging Het
Mcmbp C T 7: 128,306,248 (GRCm39) V457I probably benign Het
Myt1l G A 12: 29,882,331 (GRCm39) G509R unknown Het
Nacc1 T C 8: 85,402,783 (GRCm39) I337V probably damaging Het
Nipbl T C 15: 8,359,780 (GRCm39) D1475G probably benign Het
Orc1 T A 4: 108,457,137 (GRCm39) D392E probably benign Het
Pappa2 T C 1: 158,642,355 (GRCm39) T1297A possibly damaging Het
Plag1 C T 4: 3,905,538 (GRCm39) V51I possibly damaging Het
Ppp1r12a G A 10: 108,089,208 (GRCm39) E616K possibly damaging Het
Ptgs1 A G 2: 36,135,280 (GRCm39) M415V probably benign Het
Ralgapa2 C T 2: 146,176,414 (GRCm39) E1683K probably damaging Het
Rap2a T A 14: 120,716,406 (GRCm39) F90I probably benign Het
Rcvrn A G 11: 67,590,875 (GRCm39) E153G possibly damaging Het
Sharpin C A 15: 76,234,866 (GRCm39) probably benign Het
Skil T A 3: 31,151,647 (GRCm39) D56E probably benign Het
Slc22a18 G T 7: 143,033,082 (GRCm39) G57W probably damaging Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Synj1 T C 16: 90,788,406 (GRCm39) D154G probably damaging Het
Tbc1d24 A T 17: 24,400,746 (GRCm39) N156K probably benign Het
Tcea1 A T 1: 4,950,568 (GRCm39) probably benign Het
Tmc3 T C 7: 83,261,755 (GRCm39) V611A probably damaging Het
Tnrc6c A G 11: 117,591,588 (GRCm39) M1V probably null Het
Tomm5 A T 4: 45,106,689 (GRCm39) probably benign Het
Ttc6 A G 12: 57,736,620 (GRCm39) K1207R probably null Het
Ttn T C 2: 76,591,448 (GRCm39) T12747A possibly damaging Het
Ttn A T 2: 76,715,480 (GRCm39) probably benign Het
Utrn T C 10: 12,569,175 (GRCm39) D1147G probably benign Het
Vmn1r53 T C 6: 90,200,395 (GRCm39) I310V probably benign Het
Washc4 A C 10: 83,410,386 (GRCm39) D658A probably benign Het
Wrap73 G A 4: 154,229,731 (GRCm39) R34Q probably damaging Het
Ylpm1 T C 12: 85,077,003 (GRCm39) F1243L probably benign Het
Zbtb24 T C 10: 41,340,784 (GRCm39) S605P probably benign Het
Zfy1 T G Y: 726,205 (GRCm39) H520P possibly 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
R2892:Defa30 UTSW 8 21,624,679 (GRCm39) start codon destroyed probably damaging 1.00
R4356:Defa30 UTSW 8 21,624,821 (GRCm39) missense possibly damaging 0.93
R4986:Defa30 UTSW 8 21,625,432 (GRCm39) nonsense probably null
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'- AATGGCTCTCAAGTGCATGAC -3'
(R):5'- TGAACACACAGGAAGCATATTGC -3'

Sequencing Primer
(F):5'- TGACCAACACCCCTGAAGTG -3'
(R):5'- GCAAGCAATTTATTGAGAAGTGGTC -3'
Posted On 2016-09-01