Incidental Mutation 'IGL01954:Aadacl4fm4'
ID 181362
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aadacl4fm4
Ensembl Gene ENSMUSG00000078505
Gene Name AADACL4 family member 4
Synonyms Gm436, LOC230890
Accession Numbers
Essential gene? Probably non essential (E-score: 0.047) question?
Stock # IGL01954
Quality Score
Status
Chromosome 4
Chromosomal Location 144396507-144412938 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 144396741 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 330 (D330E)
Ref Sequence ENSEMBL: ENSMUSP00000101373 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105747]
AlphaFold B1AVU6
Predicted Effect probably damaging
Transcript: ENSMUST00000105747
AA Change: D330E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000101373
Gene: ENSMUSG00000078505
AA Change: D330E

DomainStartEndE-ValueType
transmembrane domain 2 24 N/A INTRINSIC
Pfam:Abhydrolase_3 115 285 1.6e-29 PFAM
Pfam:Abhydrolase_3 292 381 9e-12 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm3 T C 7: 119,374,306 (GRCm39) probably benign Het
Ankrd26 T A 6: 118,535,966 (GRCm39) Y156F possibly damaging Het
Bcr G A 10: 75,011,173 (GRCm39) probably null Het
Cpn2 C T 16: 30,079,138 (GRCm39) A188T probably benign Het
Ctdsp1 T C 1: 74,433,242 (GRCm39) probably benign Het
Cts7 T A 13: 61,500,637 (GRCm39) R303S probably benign Het
Dock7 T C 4: 98,971,388 (GRCm39) D59G probably damaging Het
Garre1 A T 7: 33,944,460 (GRCm39) W91R probably damaging Het
Gpr149 T C 3: 62,438,348 (GRCm39) N603S probably benign Het
Gucy2g A G 19: 55,187,123 (GRCm39) I1099T probably benign Het
Gzf1 G A 2: 148,525,981 (GRCm39) A151T probably benign Het
Ighv1-80 A T 12: 115,876,253 (GRCm39) V21D probably benign Het
Klhl18 T C 9: 110,257,934 (GRCm39) Y432C probably damaging Het
Lama4 A G 10: 38,963,295 (GRCm39) D1289G probably benign Het
Mab21l4 T A 1: 93,079,794 (GRCm39) D432V probably damaging Het
Mcm7 T C 5: 138,165,507 (GRCm39) T466A probably damaging Het
Megf8 A G 7: 25,048,439 (GRCm39) E1704G possibly damaging Het
Mettl25 C T 10: 105,659,068 (GRCm39) C405Y probably damaging Het
Muc6 A C 7: 141,218,497 (GRCm39) S2059A probably benign Het
Ndc1 T A 4: 107,253,001 (GRCm39) I590N probably damaging Het
Npnt G T 3: 132,615,724 (GRCm39) N137K probably damaging Het
Numa1 C T 7: 101,645,300 (GRCm39) R309* probably null Het
Ogfod3 G A 11: 121,093,851 (GRCm39) T53I probably benign Het
Or11i1 A G 3: 106,729,311 (GRCm39) I188T possibly damaging Het
Or5v1 C A 17: 37,809,540 (GRCm39) probably benign Het
Pcdhb9 G T 18: 37,534,794 (GRCm39) V263F probably damaging Het
Pld4 T C 12: 112,734,355 (GRCm39) probably null Het
Ppp2r3c A G 12: 55,339,353 (GRCm39) L170P probably damaging Het
Prex2 T A 1: 11,210,235 (GRCm39) D558E possibly damaging Het
Rasal2 A G 1: 157,005,269 (GRCm39) S227P possibly damaging Het
Rasal2 A T 1: 157,003,686 (GRCm39) D324E probably damaging Het
Rcbtb1 A G 14: 59,467,416 (GRCm39) Y418C probably damaging Het
Rhag T C 17: 41,139,341 (GRCm39) F92S possibly damaging Het
Scel T C 14: 103,840,678 (GRCm39) probably benign Het
Serinc5 A G 13: 92,819,441 (GRCm39) N125S probably damaging Het
Sgpl1 A T 10: 60,936,672 (GRCm39) M561K probably benign Het
Sostdc1 T C 12: 36,367,121 (GRCm39) V99A probably damaging Het
Them6 A G 15: 74,593,538 (GRCm39) Y132C probably damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r27 A T 6: 124,169,207 (GRCm39) F641Y probably damaging Het
Vps13c A G 9: 67,876,580 (GRCm39) Y3384C probably damaging Het
Zbtb32 G T 7: 30,289,353 (GRCm39) probably null Het
Other mutations in Aadacl4fm4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01149:Aadacl4fm4 APN 4 144,400,349 (GRCm39) missense probably benign 0.12
IGL01369:Aadacl4fm4 APN 4 144,401,215 (GRCm39) missense possibly damaging 0.50
IGL01503:Aadacl4fm4 APN 4 144,401,137 (GRCm39) missense probably damaging 0.99
IGL01505:Aadacl4fm4 APN 4 144,401,188 (GRCm39) missense probably damaging 1.00
IGL02447:Aadacl4fm4 APN 4 144,401,269 (GRCm39) missense probably benign 0.02
IGL02804:Aadacl4fm4 APN 4 144,397,009 (GRCm39) missense possibly damaging 0.95
R0373:Aadacl4fm4 UTSW 4 144,412,790 (GRCm39) missense possibly damaging 0.54
R1124:Aadacl4fm4 UTSW 4 144,396,845 (GRCm39) missense probably benign 0.00
R1598:Aadacl4fm4 UTSW 4 144,396,994 (GRCm39) missense possibly damaging 0.60
R1734:Aadacl4fm4 UTSW 4 144,396,596 (GRCm39) missense probably benign 0.04
R1763:Aadacl4fm4 UTSW 4 144,396,529 (GRCm39) missense probably benign 0.24
R1968:Aadacl4fm4 UTSW 4 144,397,193 (GRCm39) missense possibly damaging 0.83
R3055:Aadacl4fm4 UTSW 4 144,401,268 (GRCm39) missense probably benign 0.16
R3056:Aadacl4fm4 UTSW 4 144,401,268 (GRCm39) missense probably benign 0.16
R3930:Aadacl4fm4 UTSW 4 144,396,698 (GRCm39) missense probably damaging 1.00
R5124:Aadacl4fm4 UTSW 4 144,401,289 (GRCm39) missense probably damaging 1.00
R5407:Aadacl4fm4 UTSW 4 144,396,895 (GRCm39) missense probably benign 0.01
R6302:Aadacl4fm4 UTSW 4 144,396,760 (GRCm39) nonsense probably null
R6814:Aadacl4fm4 UTSW 4 144,397,216 (GRCm39) nonsense probably null
R6872:Aadacl4fm4 UTSW 4 144,397,216 (GRCm39) nonsense probably null
R6988:Aadacl4fm4 UTSW 4 144,412,895 (GRCm39) missense probably benign 0.01
R7131:Aadacl4fm4 UTSW 4 144,396,637 (GRCm39) missense probably damaging 0.98
R7895:Aadacl4fm4 UTSW 4 144,396,913 (GRCm39) missense possibly damaging 0.95
R8108:Aadacl4fm4 UTSW 4 144,397,239 (GRCm39) missense probably benign 0.04
R8378:Aadacl4fm4 UTSW 4 144,397,169 (GRCm39) missense probably benign 0.24
R8676:Aadacl4fm4 UTSW 4 144,396,683 (GRCm39) missense possibly damaging 0.94
R8817:Aadacl4fm4 UTSW 4 144,400,361 (GRCm39) missense probably benign 0.00
R9328:Aadacl4fm4 UTSW 4 144,401,256 (GRCm39) missense probably benign 0.02
R9640:Aadacl4fm4 UTSW 4 144,412,809 (GRCm39) missense possibly damaging 0.66
Posted On 2014-05-07