Incidental Mutation 'IGL02051:Defa38'
ID 186123
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Defa38
Ensembl Gene ENSMUSG00000061958
Gene Name defensin, alpha, 38
Synonyms Gm14851
Accession Numbers
Essential gene? Probably non essential (E-score: 0.049) question?
Stock # IGL02051
Quality Score
Status
Chromosome 8
Chromosomal Location 21585090-21586066 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 21585275 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000076665 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077452]
AlphaFold Q5ERJ0
Predicted Effect probably benign
Transcript: ENSMUST00000077452
SMART Domains Protein: ENSMUSP00000076665
Gene: ENSMUSG00000061958

DomainStartEndE-ValueType
Pfam:Defensin_propep 1 51 5.1e-25 PFAM
low complexity region 67 93 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130905
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177901
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cacul1 T C 19: 60,531,504 (GRCm39) D255G probably damaging Het
Chi3l1 T C 1: 134,111,887 (GRCm39) S94P probably damaging Het
Dzip3 T C 16: 48,792,617 (GRCm39) T223A probably benign Het
Firrm T C 1: 163,785,091 (GRCm39) T763A probably benign Het
Gfra3 T C 18: 34,828,894 (GRCm39) T167A possibly damaging Het
Glb1l3 T C 9: 26,736,464 (GRCm39) I533V probably benign Het
Gm11437 T A 11: 84,043,592 (GRCm39) Q233L probably benign Het
Hif1an A G 19: 44,551,829 (GRCm39) Y93C probably damaging Het
Hspg2 A G 4: 137,295,700 (GRCm39) probably benign Het
Ints15 A G 5: 143,293,737 (GRCm39) C247R probably damaging Het
Mak G A 13: 41,195,558 (GRCm39) A385V probably benign Het
Mical2 G T 7: 111,980,597 (GRCm39) K190N probably benign Het
Moxd1 A G 10: 24,128,916 (GRCm39) probably null Het
Ptpn5 A G 7: 46,732,507 (GRCm39) probably null Het
Ryr1 A G 7: 28,771,083 (GRCm39) Y2614H probably benign Het
Sema3e T A 5: 14,274,324 (GRCm39) Y192N possibly damaging Het
Smpd4 T C 16: 17,444,382 (GRCm39) L145P probably damaging Het
Tesk2 A G 4: 116,608,381 (GRCm39) E101G probably damaging Het
Vmn1r68 A T 7: 10,261,948 (GRCm39) V50E probably benign Het
Vpreb3 G A 10: 75,784,244 (GRCm39) probably null Het
Vps72 T C 3: 95,030,040 (GRCm39) L353P possibly damaging Het
Other mutations in Defa38
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02212:Defa38 APN 8 21,585,276 (GRCm39) splice site probably benign
R1495:Defa38 UTSW 8 21,585,217 (GRCm39) missense probably benign 0.33
R6045:Defa38 UTSW 8 21,585,248 (GRCm39) missense possibly damaging 0.53
R6585:Defa38 UTSW 8 21,585,248 (GRCm39) missense possibly damaging 0.73
R9756:Defa38 UTSW 8 21,585,943 (GRCm39) missense possibly damaging 0.51
Posted On 2014-05-07