Incidental Mutation 'IGL01557:Defb22'
ID90742
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 #IGL01557
Quality Score
Status
Chromosome2
Chromosomal Location152485663-152490138 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 152486079 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Alanine at position 62 (D62A)
Ref Sequence ENSEMBL: ENSMUSP00000028966 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028966]
Predicted Effect possibly damaging
Transcript: ENSMUST00000028966
AA Change: D62A

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000028966
Gene: ENSMUSG00000027468
AA Change: D62A

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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 T A 18: 58,968,720 probably null Het
Arl9 T G 5: 77,004,101 probably null Het
Ces3a C A 8: 105,057,751 T439K probably damaging Het
Cyp3a25 A G 5: 145,984,901 W408R probably damaging Het
Dnah17 C T 11: 118,073,686 R2422Q probably damaging Het
Ehd3 A G 17: 73,805,280 K13R probably benign Het
Fndc1 T C 17: 7,756,389 E1406G probably damaging Het
Gak A C 5: 108,584,337 Y762D probably damaging Het
Igf2r A G 17: 12,704,635 S1187P possibly damaging Het
Ighmbp2 T C 19: 3,281,472 E68G probably benign Het
Itpr2 T C 6: 146,158,976 T2448A probably damaging Het
Lrrk2 T G 15: 91,699,989 C317W probably damaging Het
Morc1 T A 16: 48,498,766 S278T probably damaging Het
Mrps9 T C 1: 42,851,350 V20A probably benign Het
Nutm1 A T 2: 112,251,818 N304K probably benign Het
Olfr761 G A 17: 37,952,851 P58S probably damaging Het
Pcdhb9 T C 18: 37,403,047 V698A probably damaging Het
Pitrm1 C A 13: 6,552,684 D70E probably benign Het
Pkhd1 T C 1: 20,116,979 T3702A possibly damaging Het
Ppm1h A T 10: 122,782,181 probably null Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Ptpn5 T C 7: 47,081,888 Y411C probably damaging Het
Spon2 G A 5: 33,216,703 A112V probably damaging Het
Zfp648 T A 1: 154,204,680 V195D probably benign Het
Other mutations in Defb22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02040:Defb22 APN 2 152490056 missense possibly damaging 0.83
IGL03159:Defb22 APN 2 152490075 missense probably benign 0.00
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 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 On2013-12-09