Incidental Mutation 'IGL00485:Defa30'
ID332198
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Defa30
Ensembl Gene ENSMUSG00000074444
Gene Namedefensin, alpha, 30
SynonymsGm15284
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.063) question?
Stock #IGL00485
Quality Score
Status
Chromosome8
Chromosomal Location21134642-21135598 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 21135451 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 77 (M77K)
Ref Sequence ENSEMBL: ENSMUSP00000096497 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098898]
Predicted Effect probably benign
Transcript: ENSMUST00000098898
AA Change: M77K

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000096497
Gene: ENSMUSG00000074444
AA Change: M77K

DomainStartEndE-ValueType
Pfam:Defensin_propep 1 51 4.9e-27 PFAM
DEFSN 64 92 2.94e-8 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap23 G A 11: 97,492,671 probably benign Het
Arhgef37 G A 18: 61,523,871 T41I probably damaging Het
BC030867 C T 11: 102,255,957 S353F possibly damaging Het
Brms1 A C 19: 5,049,042 probably benign Het
Cdkn1a C A 17: 29,098,520 A38E possibly damaging Het
Col4a2 A G 8: 11,439,012 M1133V probably benign Het
Ctps T C 4: 120,552,944 Y314C probably damaging Het
E330017A01Rik A G 16: 58,635,491 Y140H probably damaging Het
Eif3a T C 19: 60,769,890 R817G unknown Het
Fam189a2 G A 19: 23,984,722 R306W probably damaging Het
Gm13119 G A 4: 144,363,442 V351I probably damaging Het
Greb1l A G 18: 10,555,962 S1725G possibly damaging Het
Hmgxb4 T C 8: 75,029,503 S545P probably damaging Het
Kif13b A G 14: 64,765,073 E1049G possibly damaging Het
Mug1 T C 6: 121,887,416 V1424A probably benign Het
Nlrp2 A G 7: 5,337,548 V89A probably benign Het
Osbpl11 T G 16: 33,241,745 W741G probably damaging Het
Pam A G 1: 97,822,953 V914A possibly damaging Het
Phldb2 T A 16: 45,757,188 I1117F possibly damaging Het
Pign A T 1: 105,597,723 L460* probably null Het
Prdm10 A T 9: 31,327,546 I196F possibly damaging Het
Stk36 T C 1: 74,634,085 S1044P probably benign Het
Trim43b T C 9: 89,091,642 T13A probably benign Het
Unc5b T C 10: 60,783,216 Y49C possibly damaging Het
Urb2 T C 8: 124,028,694 I380T probably damaging Het
Zfyve27 T A 19: 42,183,433 C229S probably benign Het
Other mutations in Defa30
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0779:Defa30 UTSW 8 21134675 missense probably benign
R1476:Defa30 UTSW 8 21134736 missense possibly damaging 0.69
R1716:Defa30 UTSW 8 21135415 missense probably damaging 1.00
R1854:Defa30 UTSW 8 21135484 missense probably damaging 0.98
R2892:Defa30 UTSW 8 21134663 start codon destroyed probably damaging 1.00
R4356:Defa30 UTSW 8 21134805 missense possibly damaging 0.93
R4986:Defa30 UTSW 8 21135416 nonsense probably null
R5428:Defa30 UTSW 8 21135403 missense probably benign 0.00
R7046:Defa30 UTSW 8 21135455 missense probably benign 0.14
R7420:Defa30 UTSW 8 21135455 missense probably benign 0.14
R8305:Defa30 UTSW 8 21135459 missense probably benign 0.25
R8316:Defa30 UTSW 8 21134693 missense probably benign 0.01
Posted On2015-08-05