Incidental Mutation 'IGL01155:Defa22'
ID278228
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Defa22
Ensembl Gene ENSMUSG00000074443
Gene Namedefensin, alpha, 22
SynonymsDefcr22
Accession Numbers

Ncbi RefSeq: NM_207658.4; MGI:3639039

Is this an essential gene? Probably non essential (E-score: 0.046) question?
Stock #IGL01155
Quality Score
Status
Chromosome8
Chromosomal Location21162277-21163249 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 21163037 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000096496 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098897] [ENSMUST00000098897] [ENSMUST00000098897] [ENSMUST00000098897]
Predicted Effect probably null
Transcript: ENSMUST00000098897
SMART Domains Protein: ENSMUSP00000096496
Gene: ENSMUSG00000074443

DomainStartEndE-ValueType
Pfam:Defensin_propep 1 51 4.1e-26 PFAM
DEFSN 64 89 1.46e-3 SMART
Predicted Effect probably null
Transcript: ENSMUST00000098897
SMART Domains Protein: ENSMUSP00000096496
Gene: ENSMUSG00000074443

DomainStartEndE-ValueType
Pfam:Defensin_propep 1 51 4.1e-26 PFAM
DEFSN 64 89 1.46e-3 SMART
Predicted Effect probably null
Transcript: ENSMUST00000098897
SMART Domains Protein: ENSMUSP00000096496
Gene: ENSMUSG00000074443

DomainStartEndE-ValueType
Pfam:Defensin_propep 1 51 4.1e-26 PFAM
DEFSN 64 89 1.46e-3 SMART
Predicted Effect probably null
Transcript: ENSMUST00000098897
SMART Domains Protein: ENSMUSP00000096496
Gene: ENSMUSG00000074443

DomainStartEndE-ValueType
Pfam:Defensin_propep 1 51 4.1e-26 PFAM
DEFSN 64 89 1.46e-3 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
Adgrl3 T A 5: 81,560,893 I409N probably benign Het
Akap13 A G 7: 75,569,936 D29G probably damaging Het
Ap4e1 C A 2: 127,043,445 T322K probably damaging Het
Arfgef1 G A 1: 10,198,982 probably benign Het
Asic5 A G 3: 82,008,588 T282A probably benign Het
Bptf T C 11: 107,080,727 T985A probably damaging Het
Btnl9 A G 11: 49,175,691 F349L probably damaging Het
Bves T A 10: 45,353,859 I253K probably damaging Het
Cars T A 7: 143,569,849 Y455F probably benign Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Cuedc2 C A 19: 46,332,649 V15F probably damaging Het
Fat1 G A 8: 45,023,949 A2011T probably damaging Het
Fyb2 C T 4: 104,999,386 T533I probably benign Het
Gm1043 T C 5: 37,187,089 L182P probably damaging Het
Ice1 A T 13: 70,604,082 V1295E possibly damaging Het
Il12b T A 11: 44,404,088 S18T probably benign Het
Iqcg A G 16: 33,040,875 V157A probably damaging Het
Itgax T A 7: 128,145,035 M937K probably benign Het
Large1 T C 8: 73,131,989 S84G probably benign Het
Lrp1b T C 2: 41,770,935 T54A probably benign Het
Mfn1 A G 3: 32,542,836 M148V probably damaging Het
Mobp C A 9: 120,168,234 T73K probably benign Het
Ms4a3 T C 19: 11,629,655 probably benign Het
Muc5ac C T 7: 141,806,943 probably benign Het
Mzt2 A C 16: 15,862,410 S104A possibly damaging Het
Naa16 T A 14: 79,384,715 K27N probably damaging Het
Nos1 T A 5: 117,945,926 I1267N probably damaging Het
Olfr16 T A 1: 172,956,924 I43N probably benign Het
Rara A G 11: 98,968,184 E153G possibly damaging Het
Scn2a T G 2: 65,717,748 S66A probably damaging Het
Slc6a1 A T 6: 114,314,465 probably null Het
Sorbs3 A G 14: 70,199,341 V136A probably damaging Het
Spink5 T A 18: 43,981,147 H143Q probably benign Het
Susd2 G A 10: 75,640,892 T99I possibly damaging Het
T C T 17: 8,441,745 probably null Het
Tac2 G A 10: 127,726,134 probably null Het
Tfap4 G T 16: 4,547,359 P180T probably damaging Het
Trap1 G A 16: 4,043,978 Q641* probably null Het
Unc119 A G 11: 78,348,609 N252S probably damaging Het
Other mutations in Defa22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01107:Defa22 APN 8 21163037 splice site probably null
IGL01154:Defa22 APN 8 21163037 splice site probably null
IGL02142:Defa22 APN 8 21163114 missense possibly damaging 0.93
P0047:Defa22 UTSW 8 21163086 nonsense probably null
PIT4696001:Defa22 UTSW 8 21162336 missense probably damaging 0.99
R0738:Defa22 UTSW 8 21162375 missense probably benign 0.00
R1266:Defa22 UTSW 8 21162368 missense probably damaging 0.97
Posted On2015-04-16