Incidental Mutation 'IGL03236:Aadacl4fm1'
ID 414047
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aadacl4fm1
Ensembl Gene ENSMUSG00000028593
Gene Name AADACL4 family member 1
Synonyms 9430007A20Rik, LOC381572
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # IGL03236
Quality Score
Status
Chromosome 4
Chromosomal Location 144246392-144255923 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 144246486 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 11 (T11A)
Ref Sequence ENSEMBL: ENSMUSP00000030328 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030328]
AlphaFold Q8BM81
Predicted Effect probably benign
Transcript: ENSMUST00000030328
AA Change: T11A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000030328
Gene: ENSMUSG00000028593
AA Change: T11A

DomainStartEndE-ValueType
transmembrane domain 2 24 N/A INTRINSIC
Pfam:Abhydrolase_3 115 286 6.2e-32 PFAM
Pfam:Abhydrolase_3 273 381 7.7e-11 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A G 17: 24,545,450 (GRCm39) probably benign Het
Aox1 G T 1: 58,349,156 (GRCm39) E641* probably null Het
Arhgef10l G T 4: 140,338,671 (GRCm39) D30E probably damaging Het
Arhgef37 A T 18: 61,656,897 (GRCm39) I56N probably damaging Het
Cwf19l1 T C 19: 44,115,887 (GRCm39) I181V probably benign Het
Dnai2 A G 11: 114,648,075 (GRCm39) probably benign Het
Elp2 A G 18: 24,755,300 (GRCm39) probably benign Het
Epb41l4a G A 18: 33,943,272 (GRCm39) S541L probably damaging Het
Ibsp A C 5: 104,453,871 (GRCm39) N70H probably benign Het
Ikzf1 A G 11: 11,657,848 (GRCm39) E35G probably damaging Het
Kdm5a T C 6: 120,415,949 (GRCm39) V1623A probably damaging Het
Kpna7 A T 5: 144,922,504 (GRCm39) V499E unknown Het
Krtap4-16 C A 11: 99,741,962 (GRCm39) R146L unknown Het
Map2k5 T A 9: 63,193,674 (GRCm39) probably benign Het
Mfn2 A G 4: 147,966,562 (GRCm39) F543S probably damaging Het
Mical3 A G 6: 120,946,345 (GRCm39) L1052P probably benign Het
Mycbp2 T C 14: 103,536,134 (GRCm39) N272S probably damaging Het
Ndel1 A G 11: 68,732,976 (GRCm39) Y87H probably benign Het
Ndnf G A 6: 65,673,156 (GRCm39) V45M possibly damaging Het
Nr3c1 A G 18: 39,619,444 (GRCm39) I281T probably benign Het
Ntm A G 9: 29,020,802 (GRCm39) V139A probably benign Het
Or5ac23 A C 16: 59,149,200 (GRCm39) V224G probably damaging Het
Pkhd1l1 T G 15: 44,445,222 (GRCm39) V3698G probably damaging Het
Plcb1 A G 2: 135,188,226 (GRCm39) Y773C probably damaging Het
Prkaca T A 8: 84,717,074 (GRCm39) F138Y probably damaging Het
Qser1 T C 2: 104,616,877 (GRCm39) T1312A probably benign Het
Slc47a2 T C 11: 61,204,505 (GRCm39) E282G probably damaging Het
Smchd1 G A 17: 71,698,425 (GRCm39) T1117I possibly damaging Het
Utp6 A G 11: 79,851,567 (GRCm39) probably benign Het
Vmn1r66 T A 7: 10,008,990 (GRCm39) K14N probably damaging Het
Vmn1r71 A T 7: 10,482,211 (GRCm39) V93E probably benign Het
Zfp768 G A 7: 126,943,142 (GRCm39) L329F possibly damaging Het
Other mutations in Aadacl4fm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01469:Aadacl4fm1 APN 4 144,255,192 (GRCm39) missense possibly damaging 0.92
IGL01866:Aadacl4fm1 APN 4 144,255,119 (GRCm39) missense possibly damaging 0.85
IGL02736:Aadacl4fm1 APN 4 144,255,207 (GRCm39) missense probably benign 0.15
IGL02928:Aadacl4fm1 APN 4 144,255,802 (GRCm39) missense possibly damaging 0.93
R0023:Aadacl4fm1 UTSW 4 144,255,567 (GRCm39) missense probably damaging 1.00
R0023:Aadacl4fm1 UTSW 4 144,255,567 (GRCm39) missense probably damaging 1.00
R0304:Aadacl4fm1 UTSW 4 144,246,619 (GRCm39) missense probably benign 0.44
R0320:Aadacl4fm1 UTSW 4 144,248,990 (GRCm39) missense probably damaging 1.00
R0987:Aadacl4fm1 UTSW 4 144,246,502 (GRCm39) missense possibly damaging 0.81
R1124:Aadacl4fm1 UTSW 4 144,255,194 (GRCm39) missense probably benign 0.00
R1202:Aadacl4fm1 UTSW 4 144,250,236 (GRCm39) missense probably benign 0.07
R1708:Aadacl4fm1 UTSW 4 144,246,511 (GRCm39) missense probably benign 0.36
R2238:Aadacl4fm1 UTSW 4 144,246,469 (GRCm39) missense possibly damaging 0.88
R2334:Aadacl4fm1 UTSW 4 144,255,429 (GRCm39) missense probably damaging 1.00
R2351:Aadacl4fm1 UTSW 4 144,255,348 (GRCm39) missense probably damaging 1.00
R4913:Aadacl4fm1 UTSW 4 144,255,381 (GRCm39) missense possibly damaging 0.93
R5153:Aadacl4fm1 UTSW 4 144,248,837 (GRCm39) missense probably benign 0.06
R6312:Aadacl4fm1 UTSW 4 144,255,072 (GRCm39) missense probably benign
R6379:Aadacl4fm1 UTSW 4 144,248,912 (GRCm39) missense probably benign 0.10
R7555:Aadacl4fm1 UTSW 4 144,248,924 (GRCm39) missense probably damaging 0.99
R8077:Aadacl4fm1 UTSW 4 144,255,126 (GRCm39) missense probably benign 0.20
R9712:Aadacl4fm1 UTSW 4 144,255,354 (GRCm39) missense probably benign 0.06
Z1088:Aadacl4fm1 UTSW 4 144,255,239 (GRCm39) missense probably damaging 1.00
Z1177:Aadacl4fm1 UTSW 4 144,255,282 (GRCm39) nonsense probably null
Z1177:Aadacl4fm1 UTSW 4 144,255,070 (GRCm39) nonsense probably null
Posted On 2016-08-02