Incidental Mutation 'R3930:Aadacl4fm4'
ID 308416
Institutional Source Beutler Lab
Gene Symbol Aadacl4fm4
Ensembl Gene ENSMUSG00000078505
Gene Name AADACL4 family member 4
Synonyms Gm436, LOC230890
MMRRC Submission 040917-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.047) question?
Stock # R3930 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 144396507-144412938 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 144396698 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 345 (E345K)
Ref Sequence ENSEMBL: ENSMUSP00000101373 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105747]
AlphaFold B1AVU6
Predicted Effect probably damaging
Transcript: ENSMUST00000105747
AA Change: E345K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101373
Gene: ENSMUSG00000078505
AA Change: E345K

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
Meta Mutation Damage Score 0.6719 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.2%
Validation Efficiency 100% (58/58)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bpifb1 A G 2: 154,057,242 (GRCm39) N400S possibly damaging Het
Cep250 G A 2: 155,834,552 (GRCm39) R2159K probably damaging Het
Crhr1 T A 11: 104,044,377 (GRCm39) S22T probably benign Het
Cyp4a10 G T 4: 115,381,980 (GRCm39) V221L probably benign Het
D1Pas1 G T 1: 186,700,477 (GRCm39) W135C probably damaging Het
Dcbld2 T C 16: 58,285,701 (GRCm39) L620P probably damaging Het
Dnah17 C T 11: 117,971,675 (GRCm39) probably benign Het
Dnm3 T C 1: 161,911,699 (GRCm39) D66G probably damaging Het
Fzd10 G A 5: 128,679,476 (GRCm39) V399M probably damaging Het
Gm10801 T A 2: 98,494,361 (GRCm39) I146N possibly damaging Het
Gm525 T A 11: 88,965,830 (GRCm39) probably null Het
Gpr37l1 T C 1: 135,089,100 (GRCm39) I322V probably benign Het
Grid2ip T G 5: 143,371,794 (GRCm39) S679R probably damaging Het
Gyg1 A T 3: 20,209,189 (GRCm39) S15T probably benign Het
Hace1 G A 10: 45,587,604 (GRCm39) C901Y probably benign Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Hp1bp3 C T 4: 137,949,018 (GRCm39) A27V probably benign Het
Hsf5 A G 11: 87,522,508 (GRCm39) Y367C probably damaging Het
Igf2r T C 17: 12,924,716 (GRCm39) I1034V probably benign Het
Itpr1 A G 6: 108,371,802 (GRCm39) T1159A probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lrrc14 T C 15: 76,597,765 (GRCm39) V165A probably benign Het
Lrrc45 C T 11: 120,609,503 (GRCm39) A422V probably benign Het
Lrrk2 T A 15: 91,651,664 (GRCm39) probably null Het
Map3k4 T C 17: 12,454,880 (GRCm39) H1370R possibly damaging Het
Mpo A G 11: 87,691,866 (GRCm39) Y433C probably damaging Het
Nfkbil1 G T 17: 35,439,932 (GRCm39) Q194K probably benign Het
Nin C T 12: 70,125,016 (GRCm39) G102E probably damaging Het
Nmt1 T C 11: 102,943,059 (GRCm39) V138A probably benign Het
Optc T A 1: 133,828,920 (GRCm39) R176* probably null Het
Or10aa3 A T 1: 173,878,076 (GRCm39) I46F probably damaging Het
Or4c110 A G 2: 88,832,377 (GRCm39) F85S probably benign Het
Or52ae9 A C 7: 103,389,794 (GRCm39) Y218D probably damaging Het
Or6n2 T A 1: 173,897,147 (GRCm39) F94L probably damaging Het
Oxct1 T A 15: 4,066,601 (GRCm39) N72K possibly damaging Het
Plxna2 G A 1: 194,477,218 (GRCm39) A1243T probably benign Het
Rin1 G T 19: 5,103,002 (GRCm39) L430F probably benign Het
Ros1 A T 10: 52,070,944 (GRCm39) S37T possibly damaging Het
Rrp36 G T 17: 46,983,732 (GRCm39) Q27K probably damaging Het
Sez6 T C 11: 77,867,708 (GRCm39) I875T probably damaging Het
Sfrp5 T G 19: 42,190,257 (GRCm39) Y65S probably damaging Het
Slc25a54 T A 3: 109,023,820 (GRCm39) L472I probably benign Het
Slc35d3 T C 10: 19,724,605 (GRCm39) E417G probably damaging Het
Sumf2 A G 5: 129,878,820 (GRCm39) D52G probably benign Het
Sympk A G 7: 18,781,447 (GRCm39) N801S possibly damaging Het
Taf7l2 G T 10: 115,948,540 (GRCm39) Q329K possibly damaging Het
Tcstv2c G A 13: 120,616,368 (GRCm39) C69Y probably damaging Het
Tmem38b T C 4: 53,854,398 (GRCm39) F210S probably damaging Het
Tnks T A 8: 35,407,966 (GRCm39) H254L probably damaging Het
Trappc10 A T 10: 78,046,237 (GRCm39) V451E probably benign Het
Trim43a A T 9: 88,465,131 (GRCm39) I153F probably benign Het
Tulp1 T C 17: 28,572,683 (GRCm39) N213S probably damaging Het
Ubr1 T C 2: 120,746,951 (GRCm39) D830G probably benign Het
Uqcc3 C T 19: 8,858,069 (GRCm39) probably null Het
Vmn2r26 T A 6: 124,002,938 (GRCm39) M116K probably benign Het
Zscan12 A G 13: 21,552,800 (GRCm39) Q208R probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- AAAGACCAGAGTGACTATCATATGC -3'
(R):5'- ACAGAAAATGGCTCAGCTCTG -3'

Sequencing Primer
(F):5'- TGCTTTTTATGCAACTGACAACAG -3'
(R):5'- AATGGCTCAGCTCTGACAATATTCC -3'
Posted On 2015-04-17