Incidental Mutation 'IGL01503:Aadacl4fm4'
ID 88941
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 # IGL01503
Quality Score
Status
Chromosome 4
Chromosomal Location 144396507-144412938 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 144401137 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 116 (I116F)
Ref Sequence ENSEMBL: ENSMUSP00000101373 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105747]
AlphaFold B1AVU6
Predicted Effect probably damaging
Transcript: ENSMUST00000105747
AA Change: I116F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101373
Gene: ENSMUSG00000078505
AA Change: I116F

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110057P08Rik T A 16: 88,971,757 (GRCm39) Y26* probably null Het
Arpc1a T C 5: 145,032,964 (GRCm39) V91A probably damaging Het
Atp2a1 T A 7: 126,047,750 (GRCm39) I687F probably damaging Het
B3gnt5 A C 16: 19,588,531 (GRCm39) Y250S probably damaging Het
Brip1 A G 11: 85,952,703 (GRCm39) V1026A probably benign Het
C1s2 T C 6: 124,602,612 (GRCm39) D527G probably damaging Het
Chrna5 T A 9: 54,905,455 (GRCm39) probably benign Het
Cltc C A 11: 86,586,526 (GRCm39) probably benign Het
Dgkh T G 14: 78,853,710 (GRCm39) I439L possibly damaging Het
Dnajc16 G A 4: 141,491,008 (GRCm39) T714I possibly damaging Het
Fam13a A T 6: 58,933,065 (GRCm39) I349N probably damaging Het
Fig4 C T 10: 41,132,514 (GRCm39) D431N probably benign Het
Gabra4 A T 5: 71,798,429 (GRCm39) N183K possibly damaging Het
Ggt5 C T 10: 75,445,944 (GRCm39) probably benign Het
Hdac6 A G X: 7,798,418 (GRCm39) L798P probably damaging Het
Hectd4 T C 5: 121,456,714 (GRCm39) V2030A probably benign Het
Hecw2 A G 1: 53,866,120 (GRCm39) Y1514H probably damaging Het
Hmcn1 T C 1: 150,480,823 (GRCm39) D4451G probably benign Het
Krtcap3 T C 5: 31,409,167 (GRCm39) probably benign Het
Ltn1 A T 16: 87,217,695 (GRCm39) probably benign Het
Mapkapk2 T C 1: 130,986,499 (GRCm39) M1V probably null Het
Mical3 A T 6: 120,935,537 (GRCm39) I1663N probably benign Het
Mvp G T 7: 126,601,133 (GRCm39) probably benign Het
Myo5c A G 9: 75,170,324 (GRCm39) I485V probably damaging Het
N4bp2 T A 5: 65,960,890 (GRCm39) C520* probably null Het
Nos2 A G 11: 78,836,689 (GRCm39) probably benign Het
Ogdh G A 11: 6,305,069 (GRCm39) V925M probably damaging Het
Pde2a T A 7: 101,151,143 (GRCm39) probably benign Het
Plpp6 A G 19: 28,942,279 (GRCm39) *293W probably null Het
Pole T A 5: 110,451,750 (GRCm39) I864K probably damaging Het
Rexo4 A T 2: 26,850,645 (GRCm39) I239N probably benign Het
Scn1a T A 2: 66,152,687 (GRCm39) I748F probably damaging Het
Sfmbt2 A T 2: 10,584,165 (GRCm39) R841* probably null Het
Sh3bp5l A G 11: 58,228,827 (GRCm39) N100S probably damaging Het
Spic T A 10: 88,511,623 (GRCm39) D211V probably damaging Het
Stab2 A G 10: 86,776,477 (GRCm39) probably benign Het
Tshr A G 12: 91,478,708 (GRCm39) Y83C probably damaging Het
Vsir A G 10: 60,204,373 (GRCm39) E172G probably damaging Het
Wwp2 T C 8: 108,276,413 (GRCm39) S508P probably damaging 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
IGL01505:Aadacl4fm4 APN 4 144,401,188 (GRCm39) missense probably damaging 1.00
IGL01954:Aadacl4fm4 APN 4 144,396,741 (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 2013-12-03