Incidental Mutation 'R8378:Aadacl4fm4'
ID 646799
Institutional Source Beutler Lab
Gene Symbol Aadacl4fm4
Ensembl Gene ENSMUSG00000078505
Gene Name AADACL4 family member 4
Synonyms Gm436, LOC230890
MMRRC Submission 067746-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.047) question?
Stock # R8378 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 144396507-144412938 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 144397169 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 188 (V188L)
Ref Sequence ENSEMBL: ENSMUSP00000101373 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105747]
AlphaFold B1AVU6
Predicted Effect probably benign
Transcript: ENSMUST00000105747
AA Change: V188L

PolyPhen 2 Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000101373
Gene: ENSMUSG00000078505
AA Change: V188L

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik A G 15: 59,886,967 (GRCm39) I491T probably damaging Het
Alkal2 G T 12: 30,934,850 (GRCm39) G23V probably damaging Het
Ankrd40 G T 11: 94,225,662 (GRCm39) G231V probably damaging Het
Ap1s3 T C 1: 79,601,445 (GRCm39) E82G probably damaging Het
Bmp3 A G 5: 99,003,248 (GRCm39) N93D probably damaging Het
Car9 C T 4: 43,509,021 (GRCm39) R224C probably damaging Het
Cass4 T C 2: 172,269,714 (GRCm39) C599R probably benign Het
Ccdc171 A G 4: 83,782,490 (GRCm39) N1261D possibly damaging Het
Cdc42bpa A G 1: 179,989,709 (GRCm39) D1726G probably damaging Het
Ceacam2 G A 7: 25,217,597 (GRCm39) A306V probably damaging Het
Crebrf G T 17: 26,981,263 (GRCm39) L546F probably damaging Het
Crhr2 A G 6: 55,069,941 (GRCm39) F370S probably damaging Het
Dhtkd1 T C 2: 5,922,699 (GRCm39) T487A probably benign Het
Diaph1 G A 18: 38,025,006 (GRCm39) A485V unknown Het
Dmbt1 T C 7: 130,708,195 (GRCm39) V1479A probably damaging Het
Efemp1 C T 11: 28,871,765 (GRCm39) R427W probably damaging Het
Gm11444 C A 11: 85,741,075 (GRCm39) W28L Het
Golga4 A G 9: 118,387,390 (GRCm39) D1504G probably benign Het
Hirip3 A G 7: 126,462,757 (GRCm39) S238G probably benign Het
Igkv1-135 T A 6: 67,587,378 (GRCm39) V83D possibly damaging Het
Ippk T A 13: 49,589,055 (GRCm39) C183* probably null Het
Itgb3 A G 11: 104,533,142 (GRCm39) T419A possibly damaging Het
Kcnt1 A G 2: 25,797,283 (GRCm39) H129R probably benign Het
Kif18b A T 11: 102,807,299 (GRCm39) V12E probably damaging Het
Kif2b C A 11: 91,467,201 (GRCm39) G361C possibly damaging Het
Klhl30 A T 1: 91,285,494 (GRCm39) K339* probably null Het
Lrfn1 A G 7: 28,159,157 (GRCm39) I359V probably benign Het
Naip2 A C 13: 100,298,290 (GRCm39) I582S probably benign Het
Ndufaf2 C A 13: 108,189,387 (GRCm39) L120F probably damaging Het
Nlrp1b A G 11: 71,052,545 (GRCm39) V961A possibly damaging Het
Or12e10 T A 2: 87,640,394 (GRCm39) Y77N probably damaging Het
Or2h15 A G 17: 38,441,678 (GRCm39) V135A probably benign Het
Pcnx2 G A 8: 126,487,649 (GRCm39) P1785S probably damaging Het
Pcyt2 A G 11: 120,504,234 (GRCm39) Y170H probably benign Het
Phf8-ps C A 17: 33,286,038 (GRCm39) A255S probably benign Het
Rfx8 T A 1: 39,709,581 (GRCm39) D482V probably damaging Het
Rilpl1 T C 5: 124,668,964 (GRCm39) Y28C probably damaging Het
Sgce G C 6: 4,689,760 (GRCm39) L394V probably damaging Het
Sgce T A 6: 4,691,525 (GRCm39) Y350F probably benign Het
Tbk1 A G 10: 121,414,597 (GRCm39) V39A probably damaging Het
Tns1 T A 1: 73,976,405 (GRCm39) I1148F probably damaging Het
Vmn1r192 T A 13: 22,372,029 (GRCm39) R64* probably null Het
Vmn2r68 A T 7: 84,871,108 (GRCm39) V725E probably benign Het
Yy1 A T 12: 108,759,562 (GRCm39) H75L unknown Het
Zwilch A T 9: 64,060,240 (GRCm39) V366D possibly 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
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
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
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'- TCAATGGCCAAGTAGTTACACAC -3'
(R):5'- TCACGCTGAGGACTGAATCAG -3'

Sequencing Primer
(F):5'- TCAACAAGTCTTTGGAAAGAAGTG -3'
(R):5'- TGAGGACTGAATCAGAATCAGTTACC -3'
Posted On 2020-09-02