Incidental Mutation 'PIT4514001:Aadacl4fm2'
ID 556261
Institutional Source Beutler Lab
Gene Symbol Aadacl4fm2
Ensembl Gene ENSMUSG00000078506
Gene Name AADACL4 family member 2
Synonyms Gm13124
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # PIT4514001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 144281570-144291704 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 144282081 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 237 (Y237C)
Ref Sequence ENSEMBL: ENSMUSP00000101374 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105748]
AlphaFold A2A752
Predicted Effect probably damaging
Transcript: ENSMUST00000105748
AA Change: Y237C

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101374
Gene: ENSMUSG00000078506
AA Change: Y237C

DomainStartEndE-ValueType
transmembrane domain 2 24 N/A INTRINSIC
Pfam:Abhydrolase_5 113 292 1.7e-8 PFAM
Pfam:Abhydrolase_3 114 284 2.5e-33 PFAM
Pfam:Abhydrolase_3 306 380 2.6e-11 PFAM
Coding Region Coverage
  • 1x: 93.1%
  • 3x: 90.6%
  • 10x: 84.2%
  • 20x: 70.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik A G 13: 61,001,328 (GRCm39) probably null Het
Abcc10 T A 17: 46,616,574 (GRCm39) I1247F probably benign Het
Acap3 G A 4: 155,987,835 (GRCm39) A524T probably benign Het
Adcy10 T A 1: 165,384,360 (GRCm39) N1040K probably benign Het
Adrb2 T C 18: 62,312,798 (GRCm39) D9G probably benign Het
Aldh1a7 T C 19: 20,679,604 (GRCm39) T391A probably benign Het
Bcam A G 7: 19,497,991 (GRCm39) V344A probably benign Het
Birc7 T A 2: 180,573,099 (GRCm39) I172N possibly damaging Het
Cfap126 G A 1: 170,952,881 (GRCm39) D45N probably damaging Het
Cfap299 T A 5: 98,949,730 (GRCm39) H221Q probably benign Het
Cit G A 5: 116,135,913 (GRCm39) probably null Het
Col26a1 A G 5: 136,780,579 (GRCm39) V295A probably benign Het
Efcab15 T C 11: 103,091,960 (GRCm39) D27G probably benign Het
Epha7 C T 4: 28,961,355 (GRCm39) Q867* probably null Het
Fn1 A G 1: 71,667,615 (GRCm39) S793P probably benign Het
Foxb1 T A 9: 69,667,503 (GRCm39) Y9F probably damaging Het
Gpc1 T A 1: 92,785,279 (GRCm39) M406K probably benign Het
Gsg1 T C 6: 135,214,574 (GRCm39) T312A probably benign Het
Hmcn1 T A 1: 150,545,238 (GRCm39) I2790F possibly damaging Het
Kcnma1 C T 14: 23,359,103 (GRCm39) probably null Het
Lmntd1 AGACTGTAAGTTTCTCAAATGTGTACCTGGA AGA 6: 145,372,979 (GRCm39) probably null Het
Mcph1 A G 8: 18,681,906 (GRCm39) K348E probably damaging Het
Or10al6 T A 17: 38,082,758 (GRCm39) N71K probably damaging Het
Or8d4 T C 9: 40,038,595 (GRCm39) I221V probably damaging Het
Pik3cg T A 12: 32,254,902 (GRCm39) R362W probably damaging Het
Pkp3 T C 7: 140,669,623 (GRCm39) L765P probably damaging Het
Plxna2 A T 1: 194,477,245 (GRCm39) I1252F probably benign Het
Prpf8 T C 11: 75,387,181 (GRCm39) F1154S possibly damaging Het
Scn7a A G 2: 66,514,523 (GRCm39) F1084L probably damaging Het
Shmt1 G A 11: 60,695,173 (GRCm39) S47L probably damaging Het
Snap91 T C 9: 86,761,486 (GRCm39) K40R possibly damaging Het
Spag17 A T 3: 99,920,527 (GRCm39) T421S possibly damaging Het
Speer4f1 T A 5: 17,683,754 (GRCm39) N139K possibly damaging Het
Syne2 T G 12: 76,151,789 (GRCm39) N1883K probably damaging Het
Tgfb1i1 C T 7: 127,848,353 (GRCm39) R191C probably damaging Het
Tmem39b A C 4: 129,578,290 (GRCm39) N310K possibly damaging Het
Trim3 T C 7: 105,267,417 (GRCm39) T321A probably benign Het
Vmn2r124 T C 17: 18,293,974 (GRCm39) I687T probably benign Het
Zbtb8a T C 4: 129,251,523 (GRCm39) D316G probably benign Het
Zfp639 A G 3: 32,574,409 (GRCm39) I345V possibly damaging Het
Zfp764 T C 7: 127,003,913 (GRCm39) H406R probably benign Het
Other mutations in Aadacl4fm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00799:Aadacl4fm2 APN 4 144,281,843 (GRCm39) missense probably benign 0.13
IGL02876:Aadacl4fm2 APN 4 144,282,343 (GRCm39) missense probably damaging 1.00
R0089:Aadacl4fm2 UTSW 4 144,282,303 (GRCm39) missense probably benign
R0325:Aadacl4fm2 UTSW 4 144,282,081 (GRCm39) missense probably damaging 0.98
R0920:Aadacl4fm2 UTSW 4 144,287,696 (GRCm39) splice site probably benign
R1301:Aadacl4fm2 UTSW 4 144,291,635 (GRCm39) missense probably benign 0.00
R1711:Aadacl4fm2 UTSW 4 144,281,976 (GRCm39) missense probably damaging 0.98
R4328:Aadacl4fm2 UTSW 4 144,282,164 (GRCm39) missense possibly damaging 0.69
R4382:Aadacl4fm2 UTSW 4 144,281,596 (GRCm39) missense possibly damaging 0.71
R4655:Aadacl4fm2 UTSW 4 144,281,645 (GRCm39) missense probably benign 0.24
R5194:Aadacl4fm2 UTSW 4 144,281,652 (GRCm39) missense probably benign 0.00
R6301:Aadacl4fm2 UTSW 4 144,285,224 (GRCm39) missense probably damaging 0.99
R6508:Aadacl4fm2 UTSW 4 144,291,590 (GRCm39) nonsense probably null
R7206:Aadacl4fm2 UTSW 4 144,285,211 (GRCm39) missense probably damaging 1.00
R7429:Aadacl4fm2 UTSW 4 144,291,626 (GRCm39) missense probably benign
R7520:Aadacl4fm2 UTSW 4 144,281,859 (GRCm39) missense probably damaging 1.00
R7525:Aadacl4fm2 UTSW 4 144,291,580 (GRCm39) missense probably damaging 0.98
R8709:Aadacl4fm2 UTSW 4 144,281,863 (GRCm39) missense probably damaging 1.00
R9525:Aadacl4fm2 UTSW 4 144,282,000 (GRCm39) missense possibly damaging 0.92
R9529:Aadacl4fm2 UTSW 4 144,282,082 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TCGGCCTTGGCTCTTGAATC -3'
(R):5'- CTTGAATGCCACAGTCCACTTC -3'

Sequencing Primer
(F):5'- CCTTGGCTCTTGAATCTTTGG -3'
(R):5'- TGCCACAGTCCACTTCTTGAAAG -3'
Posted On 2019-06-07