Incidental Mutation 'IGL03159:Defb22'
ID411350
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Defb22
Ensembl Gene ENSMUSG00000027468
Gene Namedefensin beta 22
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03159
Quality Score
Status
Chromosome2
Chromosomal Location152485663-152490138 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 152490075 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 13 (F13L)
Ref Sequence ENSEMBL: ENSMUSP00000028966 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028966]
Predicted Effect probably benign
Transcript: ENSMUST00000028966
AA Change: F13L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000028966
Gene: ENSMUSG00000027468
AA Change: F13L

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Defensin_beta_2 26 59 4e-11 PFAM
low complexity region 89 150 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts6 T A 13: 104,444,215 M812K probably damaging Het
Ctnnal1 G A 4: 56,844,599 R122W probably benign Het
Cyp2j7 A G 4: 96,227,512 probably benign Het
Defa29 A G 8: 21,326,962 V5A possibly damaging Het
Gm884 T A 11: 103,604,502 probably benign Het
Gmds C A 13: 31,819,951 D362Y probably damaging Het
Gtf2h1 T C 7: 46,806,743 V179A possibly damaging Het
Idh3b T A 2: 130,284,401 N6I probably benign Het
Kcnk7 T C 19: 5,706,088 L114P probably damaging Het
Lama1 G A 17: 67,804,536 G2261R probably damaging Het
Mfsd3 A G 15: 76,702,901 T285A probably benign Het
Olfr996 A G 2: 85,579,940 R234G probably damaging Het
Prrc2b T C 2: 32,194,486 M321T probably damaging Het
Sf3b1 A T 1: 55,012,213 N185K probably benign Het
Smo A G 6: 29,758,505 R550G probably benign Het
Tbc1d31 T G 15: 57,920,048 probably null Het
Uck1 G A 2: 32,258,322 R161C probably benign Het
Vmn1r202 G A 13: 22,501,470 T259I probably benign Het
Vmn2r72 A T 7: 85,754,954 F10I probably benign Het
Other mutations in Defb22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01557:Defb22 APN 2 152486079 missense possibly damaging 0.93
IGL02040:Defb22 APN 2 152490056 missense possibly damaging 0.83
R5153:Defb22 UTSW 2 152485802 missense unknown
R5387:Defb22 UTSW 2 152485906 missense unknown
R6141:Defb22 UTSW 2 152485802 missense unknown
R7153:Defb22 UTSW 2 152485920 missense unknown
R7385:Defb22 UTSW 2 152486197 missense probably damaging 0.99
R7650:Defb22 UTSW 2 152486103 missense probably benign 0.40
R7671:Defb22 UTSW 2 152486030 missense unknown
RF013:Defb22 UTSW 2 152485831 small insertion probably benign
RF021:Defb22 UTSW 2 152485832 small insertion probably benign
RF025:Defb22 UTSW 2 152485823 small insertion probably benign
RF025:Defb22 UTSW 2 152485824 small insertion probably benign
RF029:Defb22 UTSW 2 152485833 small insertion probably benign
RF034:Defb22 UTSW 2 152485832 small insertion probably benign
RF041:Defb22 UTSW 2 152485823 small insertion probably benign
RF043:Defb22 UTSW 2 152485833 small insertion probably benign
RF062:Defb22 UTSW 2 152485825 small insertion probably benign
Posted On2016-08-02