Incidental Mutation 'R4209:Aadacl2fm3'
ID 319055
Institutional Source Beutler Lab
Gene Symbol Aadacl2fm3
Ensembl Gene ENSMUSG00000095522
Gene Name AADACL2 family member 3
Synonyms Gm8298
MMRRC Submission 041038-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R4209 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 59768472-59784734 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 59784577 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 350 (Y350F)
Ref Sequence ENSEMBL: ENSMUSP00000137307 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000179799]
AlphaFold J3QPI0
Predicted Effect probably damaging
Transcript: ENSMUST00000179799
AA Change: Y350F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137307
Gene: ENSMUSG00000095522
AA Change: Y350F

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:COesterase 91 217 9.6e-7 PFAM
Pfam:Abhydrolase_3 107 279 1.1e-36 PFAM
Pfam:Abhydrolase_3 284 375 1.2e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194941
Meta Mutation Damage Score 0.3088 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 98% (45/46)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak G A 19: 8,979,964 (GRCm39) G416D probably damaging Het
Ap3b2 C A 7: 81,126,884 (GRCm39) A289S probably benign Het
Arhgap23 C A 11: 97,345,322 (GRCm39) T657K probably damaging Het
Bcl9 A G 3: 97,117,269 (GRCm39) L475P probably damaging Het
Bean1 T A 8: 104,940,566 (GRCm39) M1K probably null Het
Cand1 T A 10: 119,047,463 (GRCm39) I676F probably benign Het
Casp3 G T 8: 47,088,423 (GRCm39) D107Y probably damaging Het
Cops4 T A 5: 100,695,352 (GRCm39) probably benign Het
Dchs1 A T 7: 105,415,397 (GRCm39) D626E probably damaging Het
Dpysl2 T C 14: 67,052,926 (GRCm39) S308G probably damaging Het
Fezf1 T C 6: 23,246,616 (GRCm39) K323E probably damaging Het
Gm10272 T C 10: 77,542,665 (GRCm39) V69A possibly damaging Het
Gtf2f1 A G 17: 57,318,003 (GRCm39) V11A probably benign Het
Hnf4a T C 2: 163,410,809 (GRCm39) S378P probably benign Het
Inpp5j T G 11: 3,451,107 (GRCm39) H514P probably damaging Het
Irf8 T A 8: 121,480,208 (GRCm39) Y149N probably damaging Het
Kel C T 6: 41,675,359 (GRCm39) W297* probably null Het
Man1c1 G C 4: 134,430,749 (GRCm39) P11R probably damaging Het
Mcpt8 G A 14: 56,321,375 (GRCm39) H30Y probably damaging Het
Mycl G T 4: 122,893,715 (GRCm39) V172L possibly damaging Het
Pcgf5 C A 19: 36,414,740 (GRCm39) N26K possibly damaging Het
Ppp2r2a A G 14: 67,266,328 (GRCm39) L111S probably damaging Het
Prdm2 T C 4: 142,861,007 (GRCm39) D761G probably damaging Het
Sec11a A T 7: 80,584,790 (GRCm39) I49N probably damaging Het
Sesn3 T C 9: 14,217,505 (GRCm39) I30T probably benign Het
Slc22a21 A G 11: 53,846,881 (GRCm39) S331P probably benign Het
Slc38a3 T G 9: 107,532,547 (GRCm39) S358R possibly damaging Het
Slc9a5 A G 8: 106,085,103 (GRCm39) N535D possibly damaging Het
Spns2 T C 11: 72,345,012 (GRCm39) D492G probably benign Het
Tcn2 T C 11: 3,872,114 (GRCm39) K338E possibly damaging Het
Tdp1 C A 12: 99,864,588 (GRCm39) A243E probably damaging Het
Tex16 T A X: 111,030,640 (GRCm39) D1046E probably benign Het
Tmem120a T C 5: 135,764,559 (GRCm39) N340S probably benign Het
Tnik A T 3: 28,413,214 (GRCm39) probably benign Het
Trim36 A G 18: 46,329,191 (GRCm39) L71P probably benign Het
Tube1 A G 10: 39,020,930 (GRCm39) probably null Het
Urgcp C A 11: 5,665,878 (GRCm39) G820V probably damaging Het
Veph1 A T 3: 66,151,967 (GRCm39) L154Q probably damaging Het
Vmn1r113 T C 7: 20,521,535 (GRCm39) V109A probably benign Het
Vmn1r152 A T 7: 22,223,004 (GRCm39) T205S possibly damaging Het
Wdsub1 G A 2: 59,707,149 (GRCm39) P28S probably damaging Het
Ybx2 G T 11: 69,826,767 (GRCm39) probably benign Het
Zfyve1 A T 12: 83,621,909 (GRCm39) V162E probably damaging Het
Other mutations in Aadacl2fm3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01712:Aadacl2fm3 APN 3 59,776,321 (GRCm39) missense possibly damaging 0.80
IGL02064:Aadacl2fm3 APN 3 59,784,463 (GRCm39) missense probably damaging 1.00
IGL02317:Aadacl2fm3 APN 3 59,784,408 (GRCm39) missense probably benign 0.00
R0270:Aadacl2fm3 UTSW 3 59,784,440 (GRCm39) missense probably benign
R0580:Aadacl2fm3 UTSW 3 59,784,470 (GRCm39) missense probably damaging 1.00
R1124:Aadacl2fm3 UTSW 3 59,772,639 (GRCm39) missense probably benign 0.39
R1208:Aadacl2fm3 UTSW 3 59,772,715 (GRCm39) missense probably benign 0.27
R1208:Aadacl2fm3 UTSW 3 59,772,715 (GRCm39) missense probably benign 0.27
R1222:Aadacl2fm3 UTSW 3 59,784,682 (GRCm39) nonsense probably null
R1436:Aadacl2fm3 UTSW 3 59,772,760 (GRCm39) missense probably damaging 0.98
R1529:Aadacl2fm3 UTSW 3 59,768,533 (GRCm39) missense probably benign
R1806:Aadacl2fm3 UTSW 3 59,784,571 (GRCm39) missense probably damaging 1.00
R2130:Aadacl2fm3 UTSW 3 59,772,769 (GRCm39) missense probably damaging 1.00
R4597:Aadacl2fm3 UTSW 3 59,784,214 (GRCm39) missense possibly damaging 0.47
R4910:Aadacl2fm3 UTSW 3 59,776,435 (GRCm39) critical splice donor site probably null
R5571:Aadacl2fm3 UTSW 3 59,784,640 (GRCm39) missense probably damaging 1.00
R6131:Aadacl2fm3 UTSW 3 59,776,324 (GRCm39) missense possibly damaging 0.76
R6447:Aadacl2fm3 UTSW 3 59,772,819 (GRCm39) missense probably damaging 0.99
R6481:Aadacl2fm3 UTSW 3 59,768,478 (GRCm39) missense probably benign 0.00
R6795:Aadacl2fm3 UTSW 3 59,776,357 (GRCm39) missense probably damaging 1.00
R7092:Aadacl2fm3 UTSW 3 59,768,500 (GRCm39) missense probably benign 0.41
R7334:Aadacl2fm3 UTSW 3 59,776,380 (GRCm39) missense probably damaging 1.00
R7602:Aadacl2fm3 UTSW 3 59,784,697 (GRCm39) missense probably benign 0.17
R7660:Aadacl2fm3 UTSW 3 59,772,689 (GRCm39) missense probably benign 0.05
R7705:Aadacl2fm3 UTSW 3 59,784,168 (GRCm39) missense probably benign 0.25
R7708:Aadacl2fm3 UTSW 3 59,772,756 (GRCm39) missense probably benign 0.00
R7981:Aadacl2fm3 UTSW 3 59,784,360 (GRCm39) missense probably damaging 1.00
R8167:Aadacl2fm3 UTSW 3 59,784,632 (GRCm39) missense probably benign 0.03
R8941:Aadacl2fm3 UTSW 3 59,784,400 (GRCm39) missense probably damaging 1.00
R9547:Aadacl2fm3 UTSW 3 59,772,656 (GRCm39) missense probably benign 0.00
R9557:Aadacl2fm3 UTSW 3 59,784,654 (GRCm39) missense possibly damaging 0.81
R9675:Aadacl2fm3 UTSW 3 59,784,538 (GRCm39) missense probably damaging 1.00
X0011:Aadacl2fm3 UTSW 3 59,768,598 (GRCm39) missense probably benign
X0022:Aadacl2fm3 UTSW 3 59,784,445 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGTACCTCAAGAGTCAAGACATTTG -3'
(R):5'- TGACCAACTAGCTACATGTACC -3'

Sequencing Primer
(F):5'- CTGGAGTGACTTCCTTCCTGAAAAG -3'
(R):5'- GCTACATGTACCATCACAGATTTTC -3'
Posted On 2015-06-10