Incidental Mutation 'IGL01301:Defb21'
ID 73238
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Defb21
Ensembl Gene ENSMUSG00000056544
Gene Name defensin beta 21
Synonyms 4930525K10Rik, LOC228782
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # IGL01301
Quality Score
Status
Chromosome 2
Chromosomal Location 152414664-152416864 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 152416671 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 49 (E49G)
Ref Sequence ENSEMBL: ENSMUSP00000065102 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053180] [ENSMUST00000070722]
AlphaFold Q8C5Z4
Predicted Effect probably benign
Transcript: ENSMUST00000053180
SMART Domains Protein: ENSMUSP00000059585
Gene: ENSMUSG00000050645

DomainStartEndE-ValueType
Pfam:Defensin_big 2 60 3.4e-9 PFAM
Pfam:Defensin_beta_2 26 55 5.1e-10 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000070722
AA Change: E49G

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000065102
Gene: ENSMUSG00000056544
AA Change: E49G

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Defensin_beta_2 33 62 1.4e-9 PFAM
low complexity region 76 86 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012H06Rik C T 17: 15,164,181 (GRCm39) probably null Het
Acacb A T 5: 114,384,559 (GRCm39) I2238L probably benign Het
Aldh1l2 T C 10: 83,358,710 (GRCm39) Y95C probably damaging Het
Asxl2 A G 12: 3,551,425 (GRCm39) T1056A probably damaging Het
B4galnt1 A G 10: 127,005,648 (GRCm39) T250A possibly damaging Het
Cela3b A T 4: 137,151,154 (GRCm39) probably null Het
Chst3 T C 10: 60,021,654 (GRCm39) T398A probably damaging Het
Cngb3 A G 4: 19,425,625 (GRCm39) T478A probably damaging Het
Cyp4a10 T C 4: 115,375,652 (GRCm39) L45P probably damaging Het
Dnajc1 T C 2: 18,313,645 (GRCm39) T159A probably damaging Het
Dnmbp A G 19: 43,890,793 (GRCm39) S325P probably benign Het
Fam91a1 T C 15: 58,314,720 (GRCm39) F534L probably damaging Het
Fermt2 T C 14: 45,702,320 (GRCm39) E488G probably damaging Het
Filip1 T C 9: 79,726,462 (GRCm39) D719G possibly damaging Het
Gad1-ps A G 10: 99,281,013 (GRCm39) noncoding transcript Het
Glra3 C A 8: 56,393,997 (GRCm39) A36E probably benign Het
Gm9884 T A 1: 25,869,729 (GRCm39) probably benign Het
Hectd2 T C 19: 36,546,770 (GRCm39) probably benign Het
Hnrnpm C T 17: 33,888,142 (GRCm39) probably null Het
Lrrk2 T A 15: 91,651,542 (GRCm39) Y1733N probably damaging Het
Mindy1 T C 3: 95,195,701 (GRCm39) L148P probably damaging Het
Mkrn2 C A 6: 115,588,750 (GRCm39) Y164* probably null Het
Msra T C 14: 64,447,884 (GRCm39) Y135C probably damaging Het
Ndst3 C T 3: 123,342,565 (GRCm39) A749T probably damaging Het
Ngdn G T 14: 55,254,571 (GRCm39) A41S probably benign Het
Nlrp12 A T 7: 3,288,722 (GRCm39) S597T probably damaging Het
Or5b99 A T 19: 12,976,781 (GRCm39) I144F probably damaging Het
Pabpc6 A G 17: 9,886,899 (GRCm39) S551P probably benign Het
Plekhg5 C T 4: 152,197,010 (GRCm39) A752V probably benign Het
Prpf4b T C 13: 35,068,274 (GRCm39) S368P probably benign Het
Pus7 A G 5: 23,951,422 (GRCm39) probably null Het
Rad23b T C 4: 55,366,774 (GRCm39) probably benign Het
Rgs13 T C 1: 144,047,152 (GRCm39) probably benign Het
Sfpq T C 4: 126,920,553 (GRCm39) probably benign Het
Slc9a9 T A 9: 94,937,512 (GRCm39) S455T probably benign Het
Slco1a1 A G 6: 141,878,256 (GRCm39) probably benign Het
Tmem26 A T 10: 68,614,436 (GRCm39) N284Y probably damaging Het
Tmem87a T C 2: 120,211,250 (GRCm39) I232V probably benign Het
Trpm2 A G 10: 77,759,818 (GRCm39) L1106P probably damaging Het
Vmn1r18 T C 6: 57,366,652 (GRCm39) probably benign Het
Zfp213 G T 17: 23,780,391 (GRCm39) A43D probably benign Het
Zfp365 A G 10: 67,745,184 (GRCm39) V198A probably damaging Het
Zfp395 T A 14: 65,632,200 (GRCm39) probably null Het
Zfp618 G A 4: 63,051,063 (GRCm39) V615M probably damaging Het
Other mutations in Defb21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Defb21 APN 2 152,416,712 (GRCm39) missense probably benign 0.33
IGL00795:Defb21 APN 2 152,416,665 (GRCm39) missense probably benign 0.00
IGL01686:Defb21 APN 2 152,416,821 (GRCm39) unclassified probably benign
ANU18:Defb21 UTSW 2 152,416,671 (GRCm39) missense possibly damaging 0.85
R2305:Defb21 UTSW 2 152,416,791 (GRCm39) missense possibly damaging 0.96
R2438:Defb21 UTSW 2 152,416,695 (GRCm39) missense possibly damaging 0.71
R6805:Defb21 UTSW 2 152,416,789 (GRCm39) missense probably benign 0.01
R8924:Defb21 UTSW 2 152,416,704 (GRCm39) missense possibly damaging 0.51
X0063:Defb21 UTSW 2 152,415,752 (GRCm39) unclassified probably benign
Z1176:Defb21 UTSW 2 152,415,753 (GRCm39) missense unknown
Posted On 2013-10-07