Incidental Mutation 'IGL02609:Aadacl4fm5'
ID 300391
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aadacl4fm5
Ensembl Gene ENSMUSG00000078504
Gene Name AADACL4 family member 5
Synonyms Gm438, LOC329993
Accession Numbers
Essential gene? Probably non essential (E-score: 0.048) question?
Stock # IGL02609
Quality Score
Status
Chromosome 4
Chromosomal Location 144503774-144513153 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 144506307 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 128 (D128V)
Ref Sequence ENSEMBL: ENSMUSP00000101372 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105746]
AlphaFold B1ASB3
Predicted Effect probably damaging
Transcript: ENSMUST00000105746
AA Change: D128V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101372
Gene: ENSMUSG00000078504
AA Change: D128V

DomainStartEndE-ValueType
transmembrane domain 3 25 N/A INTRINSIC
Pfam:Abhydrolase_3 111 270 4.9e-22 PFAM
Pfam:Abhydrolase_3 284 366 1.3e-11 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,381,854 (GRCm39) probably benign Het
Adcy10 T G 1: 165,366,044 (GRCm39) Y520* probably null Het
Agrn A T 4: 156,259,680 (GRCm39) probably benign Het
AI661453 A T 17: 47,779,297 (GRCm39) probably benign Het
Arhgap6 A G X: 167,961,062 (GRCm39) probably benign Het
Asxl2 T C 12: 3,550,018 (GRCm39) S587P probably damaging Het
B3gntl1 A G 11: 121,535,427 (GRCm39) probably benign Het
Bahcc1 T C 11: 120,180,224 (GRCm39) F2527L possibly damaging Het
Baz2b T A 2: 59,747,713 (GRCm39) M1317L possibly damaging Het
Bcas3 A T 11: 85,348,720 (GRCm39) K204I probably damaging Het
Bpnt2 T A 4: 4,767,763 (GRCm39) R338* probably null Het
C1qtnf1 T C 11: 118,338,830 (GRCm39) F167L probably damaging Het
Cfap58 C T 19: 47,963,941 (GRCm39) T523M possibly damaging Het
Ddb1 T A 19: 10,599,830 (GRCm39) C680S possibly damaging Het
Eef1d T C 15: 75,768,162 (GRCm39) Q200R probably null Het
Gm10717 A T 9: 3,026,287 (GRCm39) Y195F probably damaging Het
Gm28557 T A 13: 67,219,083 (GRCm39) K214* probably null Het
Gm8229 A C 14: 44,604,082 (GRCm39) E90D probably benign Het
Hhla1 T C 15: 65,802,463 (GRCm39) probably benign Het
Hivep1 C T 13: 42,309,130 (GRCm39) H457Y probably damaging Het
Htr2c T C X: 145,976,756 (GRCm39) probably benign Het
Ifi44 A T 3: 151,438,134 (GRCm39) S384R probably damaging Het
Kirrel2 T C 7: 30,147,765 (GRCm39) T628A probably benign Het
Kmt2d T C 15: 98,749,674 (GRCm39) probably benign Het
Larp4b T A 13: 9,220,716 (GRCm39) I655N probably damaging Het
Lrrd1 G A 5: 3,908,803 (GRCm39) V692I probably benign Het
Lypd8l A T 11: 58,503,442 (GRCm39) C29S probably damaging Het
Nes T C 3: 87,884,528 (GRCm39) I929T probably benign Het
Ogfr T C 2: 180,234,308 (GRCm39) probably benign Het
Pwwp3a A T 10: 80,065,917 (GRCm39) E57V probably damaging Het
Rfx2 G T 17: 57,112,404 (GRCm39) P43Q probably benign Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Sh3tc1 T C 5: 35,864,516 (GRCm39) K495R probably damaging Het
Slit1 A T 19: 41,590,743 (GRCm39) C1310S probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Stk35 T C 2: 129,643,721 (GRCm39) V235A probably damaging Het
Syde2 T G 3: 145,704,275 (GRCm39) V142G probably benign Het
Tgfb3 A G 12: 86,124,613 (GRCm39) F32L probably benign Het
Tmem35a T C X: 133,205,446 (GRCm39) F121L probably damaging Het
Trp53bp2 T A 1: 182,281,289 (GRCm39) D963E probably benign Het
Vmn1r26 A G 6: 57,985,860 (GRCm39) S110P probably damaging Het
Vpreb1b T C 16: 17,798,558 (GRCm39) probably benign Het
Xrn2 A T 2: 146,891,945 (GRCm39) T721S probably benign Het
Other mutations in Aadacl4fm5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01139:Aadacl4fm5 APN 4 144,504,259 (GRCm39) nonsense probably null
IGL01293:Aadacl4fm5 APN 4 144,504,159 (GRCm39) missense probably benign 0.00
IGL01678:Aadacl4fm5 APN 4 144,504,443 (GRCm39) missense probably benign 0.20
IGL02684:Aadacl4fm5 APN 4 144,504,755 (GRCm39) splice site probably benign
IGL02734:Aadacl4fm5 APN 4 144,506,349 (GRCm39) missense probably damaging 1.00
IGL02869:Aadacl4fm5 APN 4 144,512,938 (GRCm39) missense probably benign 0.01
IGL02988:Aadacl4fm5 APN 4 144,513,100 (GRCm39) utr 5 prime probably benign
R0553:Aadacl4fm5 UTSW 4 144,503,985 (GRCm39) missense possibly damaging 0.57
R1514:Aadacl4fm5 UTSW 4 144,504,329 (GRCm39) missense probably damaging 1.00
R1856:Aadacl4fm5 UTSW 4 144,504,453 (GRCm39) missense probably benign
R1957:Aadacl4fm5 UTSW 4 144,504,389 (GRCm39) missense possibly damaging 0.94
R2014:Aadacl4fm5 UTSW 4 144,506,295 (GRCm39) missense probably damaging 1.00
R2243:Aadacl4fm5 UTSW 4 144,503,991 (GRCm39) missense probably benign
R4943:Aadacl4fm5 UTSW 4 144,504,290 (GRCm39) missense probably benign 0.07
R5439:Aadacl4fm5 UTSW 4 144,504,683 (GRCm39) missense probably damaging 1.00
R5520:Aadacl4fm5 UTSW 4 144,504,594 (GRCm39) missense probably benign 0.00
R6414:Aadacl4fm5 UTSW 4 144,503,985 (GRCm39) missense possibly damaging 0.57
R6664:Aadacl4fm5 UTSW 4 144,503,969 (GRCm39) makesense probably null
R6869:Aadacl4fm5 UTSW 4 144,507,042 (GRCm39) critical splice donor site probably null
R7384:Aadacl4fm5 UTSW 4 144,507,191 (GRCm39) missense possibly damaging 0.89
R7439:Aadacl4fm5 UTSW 4 144,504,332 (GRCm39) missense probably damaging 1.00
R7484:Aadacl4fm5 UTSW 4 144,504,521 (GRCm39) missense probably damaging 0.97
R9284:Aadacl4fm5 UTSW 4 144,504,191 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16