Incidental Mutation 'IGL02140:Defa27'
ID281491
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Defa27
Ensembl Gene ENSMUSG00000082211
Gene Namedefensin, alpha, 27
SynonymsGm15299, ENSMUSG00000074438
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.068) question?
Stock #IGL02140
Quality Score
Status
Chromosome8
Chromosomal Location21315546-21316481 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 21315658 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Stop codon at position 13 (K13*)
Ref Sequence ENSEMBL: ENSMUSP00000131618 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000167683] [ENSMUST00000168340]
Predicted Effect probably damaging
Transcript: ENSMUST00000167683
AA Change: E38V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000126797
Gene: ENSMUSG00000082211
AA Change: E38V

DomainStartEndE-ValueType
Pfam:Defensin_propep 1 52 3.6e-27 PFAM
DEFSN 64 92 8.56e-10 SMART
Predicted Effect probably null
Transcript: ENSMUST00000168340
AA Change: K13*
SMART Domains Protein: ENSMUSP00000131618
Gene: ENSMUSG00000082211
AA Change: K13*

DomainStartEndE-ValueType
DEFSN 37 65 8.56e-10 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G A 12: 71,148,260 V144I probably benign Het
B3gat1 A G 9: 26,757,747 K325E possibly damaging Het
Cd36 T A 5: 17,828,768 probably benign Het
Ces3a A G 8: 105,055,631 E325G probably benign Het
Col1a2 G A 6: 4,515,639 G136D unknown Het
Cyp3a25 T G 5: 146,009,463 probably benign Het
Cyp3a59 T C 5: 146,102,880 L321P probably damaging Het
Dag1 A G 9: 108,218,192 S34P probably damaging Het
Disp2 T C 2: 118,790,869 F694S probably benign Het
Dnah12 G T 14: 26,716,577 A454S probably benign Het
Dync2h1 A T 9: 7,147,791 D946E probably benign Het
Fcgbp A G 7: 28,091,954 E880G probably damaging Het
Fgfr4 T C 13: 55,161,179 V371A probably benign Het
Frem3 G T 8: 80,614,107 V1010F possibly damaging Het
Gm13283 G A 4: 88,761,035 V88I probably benign Het
Gm5134 G A 10: 75,986,111 V260I probably benign Het
Grhl2 A G 15: 37,270,586 probably benign Het
Hectd1 A T 12: 51,774,137 W1090R probably damaging Het
Hydin G A 8: 110,566,938 V3506I probably benign Het
Igkc C T 6: 70,726,575 R47* probably null Het
Iglv3 T A 16: 19,241,410 Q56L probably damaging Het
Impg2 T A 16: 56,259,468 M436K probably benign Het
Kcnma1 T A 14: 23,309,045 K1110N probably damaging Het
Marf1 T C 16: 14,141,912 E694G probably damaging Het
Nup37 A C 10: 88,158,929 K118T probably benign Het
Olfr1246 T C 2: 89,590,242 E291G probably damaging Het
Olfr129 A G 17: 38,055,590 M1T probably null Het
P3h1 A G 4: 119,237,865 D273G probably damaging Het
Pcsk9 T C 4: 106,454,646 D178G probably benign Het
Phyhipl T C 10: 70,570,830 K53R probably damaging Het
Pkp3 T G 7: 141,089,336 L697R probably damaging Het
Rab11fip3 A G 17: 26,067,892 V429A probably benign Het
Rgl2 A G 17: 33,933,124 N295S probably damaging Het
Spag5 A T 11: 78,315,633 D817V possibly damaging Het
Tas2r117 C A 6: 132,803,595 T232K probably benign Het
Thumpd1 A G 7: 119,717,009 V239A possibly damaging Het
Timd4 T A 11: 46,820,014 S248T possibly damaging Het
Tmem207 A T 16: 26,516,740 N82K probably benign Het
Ttn T A 2: 76,708,213 T34714S possibly damaging Het
Vmn1r194 G A 13: 22,244,536 V108I probably benign Het
Vmn2r24 T A 6: 123,780,672 S166R probably damaging Het
Vmn2r32 A G 7: 7,476,697 F159S probably damaging Het
Wdr72 A T 9: 74,210,223 Q739L probably benign Het
Other mutations in Defa27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02988:Defa27 APN 8 21315567 missense probably damaging 1.00
R4281:Defa27 UTSW 8 21315616 missense probably benign 0.28
R4282:Defa27 UTSW 8 21315616 missense probably benign 0.28
R4283:Defa27 UTSW 8 21315616 missense probably benign 0.28
R4357:Defa27 UTSW 8 21315592 missense probably null 1.00
R5401:Defa27 UTSW 8 21315694 missense possibly damaging 0.89
R6550:Defa27 UTSW 8 21316324 missense possibly damaging 0.71
R7232:Defa27 UTSW 8 21315609 missense probably damaging 0.99
R7631:Defa27 UTSW 8 21315641 missense probably benign
R7795:Defa27 UTSW 8 21316338 missense probably benign 0.01
Z1176:Defa27 UTSW 8 21315597 missense probably damaging 1.00
Z1176:Defa27 UTSW 8 21315598 missense probably damaging 1.00
Posted On2015-04-16