Incidental Mutation 'IGL00661:AAdacl4fm3'
ID 10994
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol AAdacl4fm3
Ensembl Gene ENSMUSG00000041735
Gene Name AADACL4 family member 3
Synonyms Gm13178
Accession Numbers
Essential gene? Probably non essential (E-score: 0.048) question?
Stock # IGL00661
Quality Score
Status
Chromosome 4
Chromosomal Location 144429761-144447974 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 144430263 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 242 (V242A)
Ref Sequence ENSEMBL: ENSMUSP00000045343 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036876]
AlphaFold B1AVU7
Predicted Effect possibly damaging
Transcript: ENSMUST00000036876
AA Change: V242A

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000045343
Gene: ENSMUSG00000041735
AA Change: V242A

DomainStartEndE-ValueType
transmembrane domain 4 23 N/A INTRINSIC
transmembrane domain 43 60 N/A INTRINSIC
low complexity region 79 84 N/A INTRINSIC
Pfam:Abhydrolase_3 116 286 2.3e-27 PFAM
Pfam:Abhydrolase_3 287 382 8.8e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209924
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Antxr2 T C 5: 98,152,155 (GRCm39) D152G probably benign Het
Blmh A T 11: 76,856,758 (GRCm39) K118* probably null Het
Bnip3 G A 7: 138,499,801 (GRCm39) P62L probably damaging Het
Catsperb A T 12: 101,554,357 (GRCm39) T684S probably damaging Het
Chd3 C A 11: 69,248,209 (GRCm39) K894N possibly damaging Het
Chkb T A 15: 89,311,794 (GRCm39) R133S probably benign Het
Dennd5a T C 7: 109,507,579 (GRCm39) N803S probably benign Het
Dync2li1 A T 17: 84,956,668 (GRCm39) D276V possibly damaging Het
Erap1 T C 13: 74,822,908 (GRCm39) probably benign Het
Hgsnat C T 8: 26,462,965 (GRCm39) V70M probably benign Het
Leprot T C 4: 101,509,673 (GRCm39) probably null Het
Lhcgr G A 17: 89,057,546 (GRCm39) A315V probably benign Het
Lrrn4 C T 2: 132,712,588 (GRCm39) V412I probably benign Het
Macrod2 G A 2: 140,261,824 (GRCm39) probably null Het
Mmaa G A 8: 80,008,199 (GRCm39) R13C probably damaging Het
Plpp4 T A 7: 128,918,023 (GRCm39) I66N probably damaging Het
Prl4a1 T C 13: 28,205,359 (GRCm39) V108A probably benign Het
Prss1 G T 6: 41,439,553 (GRCm39) K95N possibly damaging Het
Rasa2 C T 9: 96,459,606 (GRCm39) probably benign Het
Relb A G 7: 19,350,336 (GRCm39) V208A possibly damaging Het
Sema3d T C 5: 12,555,806 (GRCm39) S178P probably damaging Het
Slc18a1 A T 8: 69,526,383 (GRCm39) W102R probably benign Het
Slc39a8 A C 3: 135,563,873 (GRCm39) K239N probably benign Het
Stap1 A G 5: 86,229,132 (GRCm39) H100R probably benign Het
Suz12 T A 11: 79,889,918 (GRCm39) V143E probably damaging Het
Tmf1 A G 6: 97,153,455 (GRCm39) V206A probably benign Het
Trim16 T A 11: 62,728,058 (GRCm39) probably benign Het
Ube2b C T 11: 51,891,119 (GRCm39) probably null Het
Vmn1r223 T C 13: 23,434,254 (GRCm39) S283P probably damaging Het
Wrn T A 8: 33,809,173 (GRCm39) probably benign Het
Other mutations in AAdacl4fm3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01985:AAdacl4fm3 APN 4 144,442,024 (GRCm39) nonsense probably null
IGL02587:AAdacl4fm3 APN 4 144,429,969 (GRCm39) missense possibly damaging 0.94
P0018:AAdacl4fm3 UTSW 4 144,429,767 (GRCm39) missense probably benign 0.00
R0395:AAdacl4fm3 UTSW 4 144,429,765 (GRCm39) missense probably benign 0.14
R1617:AAdacl4fm3 UTSW 4 144,441,961 (GRCm39) missense probably damaging 1.00
R3802:AAdacl4fm3 UTSW 4 144,430,074 (GRCm39) missense possibly damaging 0.82
R4409:AAdacl4fm3 UTSW 4 144,447,872 (GRCm39) missense possibly damaging 0.86
R4577:AAdacl4fm3 UTSW 4 144,430,323 (GRCm39) missense probably damaging 1.00
R4603:AAdacl4fm3 UTSW 4 144,429,798 (GRCm39) missense probably benign 0.00
R5069:AAdacl4fm3 UTSW 4 144,430,437 (GRCm39) missense probably damaging 1.00
R5801:AAdacl4fm3 UTSW 4 144,430,206 (GRCm39) missense probably damaging 1.00
R5802:AAdacl4fm3 UTSW 4 144,430,206 (GRCm39) missense probably damaging 1.00
R5893:AAdacl4fm3 UTSW 4 144,429,766 (GRCm39) missense probably benign
R6148:AAdacl4fm3 UTSW 4 144,447,887 (GRCm39) missense possibly damaging 0.89
R6466:AAdacl4fm3 UTSW 4 144,430,437 (GRCm39) missense probably damaging 1.00
R6655:AAdacl4fm3 UTSW 4 144,431,815 (GRCm39) missense probably damaging 1.00
R7006:AAdacl4fm3 UTSW 4 144,447,853 (GRCm39) missense probably benign 0.00
R7021:AAdacl4fm3 UTSW 4 144,442,062 (GRCm39) missense probably damaging 1.00
R7030:AAdacl4fm3 UTSW 4 144,430,173 (GRCm39) missense possibly damaging 0.85
R7514:AAdacl4fm3 UTSW 4 144,429,798 (GRCm39) missense possibly damaging 0.66
R7773:AAdacl4fm3 UTSW 4 144,430,047 (GRCm39) missense probably damaging 0.98
R7791:AAdacl4fm3 UTSW 4 144,430,015 (GRCm39) missense probably damaging 1.00
R8012:AAdacl4fm3 UTSW 4 144,429,972 (GRCm39) missense possibly damaging 0.48
R8082:AAdacl4fm3 UTSW 4 144,441,897 (GRCm39) missense probably damaging 1.00
R9250:AAdacl4fm3 UTSW 4 144,442,011 (GRCm39) missense probably benign 0.04
R9721:AAdacl4fm3 UTSW 4 144,429,942 (GRCm39) missense possibly damaging 0.94
Z1176:AAdacl4fm3 UTSW 4 144,429,895 (GRCm39) missense probably damaging 1.00
Z1177:AAdacl4fm3 UTSW 4 144,430,216 (GRCm39) missense possibly damaging 0.87
Posted On 2012-12-06