Incidental Mutation 'IGL02454:Hacd2'
ID 293751
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hacd2
Ensembl Gene ENSMUSG00000035376
Gene Name 3-hydroxyacyl-CoA dehydratase 2
Synonyms Ptplb, 6330408J20Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.176) question?
Stock # IGL02454
Quality Score
Status
Chromosome 16
Chromosomal Location 34842798-34929547 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 34926761 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 253 (F253L)
Ref Sequence ENSEMBL: ENSMUSP00000060462 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061156]
AlphaFold Q9D3B1
Predicted Effect probably benign
Transcript: ENSMUST00000061156
AA Change: F253L

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000060462
Gene: ENSMUSG00000035376
AA Change: F253L

DomainStartEndE-ValueType
low complexity region 2 10 N/A INTRINSIC
low complexity region 12 27 N/A INTRINSIC
transmembrane domain 42 64 N/A INTRINSIC
Pfam:PTPLA 85 246 1.4e-62 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231556
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene can catalyze the third step (dehydration) in the conversion of long chain fatty acids to very long chain fatty acids. The encoded protein localizes to the endoplasmic reticulum membrane. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amz2 T G 11: 109,324,887 (GRCm39) probably benign Het
Atp13a5 A G 16: 29,051,560 (GRCm39) F1104S probably benign Het
Cacna1c T C 6: 118,579,141 (GRCm39) N1610S probably damaging Het
Ccnl1 A T 3: 65,864,318 (GRCm39) D122E probably damaging Het
Crtc2 G A 3: 90,166,474 (GRCm39) G65S probably benign Het
Dnah17 T C 11: 117,971,593 (GRCm39) T2160A probably damaging Het
Fads3 T G 19: 10,032,483 (GRCm39) L278R probably damaging Het
Foxp4 A T 17: 48,186,507 (GRCm39) L424* probably null Het
Gm10392 A T 11: 77,409,216 (GRCm39) E310V probably damaging Het
Gm11554 T A 11: 99,694,815 (GRCm39) S133C unknown Het
Il3ra T C 14: 14,351,113 (GRCm38) S212P probably benign Het
Mdn1 T C 4: 32,694,674 (GRCm39) probably null Het
Mtfr1l A T 4: 134,257,696 (GRCm39) L111H probably damaging Het
Mysm1 A G 4: 94,858,741 (GRCm39) probably benign Het
Or10j2 C A 1: 173,098,507 (GRCm39) S255Y probably damaging Het
Or52d1 T C 7: 103,755,819 (GRCm39) V111A probably damaging Het
Plec A T 15: 76,075,231 (GRCm39) F357I probably damaging Het
Polr3a C A 14: 24,525,891 (GRCm39) V450L possibly damaging Het
Prkd1 T C 12: 50,411,456 (GRCm39) K764R probably benign Het
Pxn C T 5: 115,690,325 (GRCm39) P256S probably damaging Het
Rbm25 T A 12: 83,707,096 (GRCm39) F247L probably benign Het
Rfx4 C T 10: 84,675,970 (GRCm39) T62M possibly damaging Het
Rps4l-ps T C 7: 114,526,499 (GRCm39) noncoding transcript Het
Scn11a A G 9: 119,587,610 (GRCm39) I1378T probably benign Het
Siglecg T C 7: 43,058,319 (GRCm39) S69P probably benign Het
Stox1 T C 10: 62,503,605 (GRCm39) Y61C probably damaging Het
Tex55 T A 16: 38,648,309 (GRCm39) T267S probably benign Het
Tnks C T 8: 35,298,882 (GRCm39) probably benign Het
Tpr A G 1: 150,306,943 (GRCm39) S1587G probably benign Het
Trappc6b A G 12: 59,090,433 (GRCm39) *97Q probably null Het
Usf3 T C 16: 44,037,545 (GRCm39) V675A probably damaging Het
Wdr7 C T 18: 63,929,299 (GRCm39) T1045M probably benign Het
Zc3h11a A T 1: 133,552,254 (GRCm39) C618S probably benign Het
Zfp398 T C 6: 47,817,301 (GRCm39) V47A possibly damaging Het
Zzz3 A G 3: 152,134,211 (GRCm39) N423S probably benign Het
Other mutations in Hacd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01999:Hacd2 APN 16 34,869,083 (GRCm39) splice site probably benign
R0057:Hacd2 UTSW 16 34,895,997 (GRCm39) missense probably damaging 1.00
R0057:Hacd2 UTSW 16 34,895,997 (GRCm39) missense probably damaging 1.00
R1831:Hacd2 UTSW 16 34,922,434 (GRCm39) missense probably damaging 1.00
R1945:Hacd2 UTSW 16 34,922,354 (GRCm39) missense possibly damaging 0.82
R2097:Hacd2 UTSW 16 34,869,090 (GRCm39) missense probably benign 0.01
R2392:Hacd2 UTSW 16 34,926,748 (GRCm39) missense probably benign 0.04
R4962:Hacd2 UTSW 16 34,842,921 (GRCm39) missense unknown
R5731:Hacd2 UTSW 16 34,922,374 (GRCm39) missense probably damaging 1.00
R7751:Hacd2 UTSW 16 34,922,434 (GRCm39) missense probably damaging 1.00
R7850:Hacd2 UTSW 16 34,922,477 (GRCm39) missense probably damaging 1.00
R9101:Hacd2 UTSW 16 34,920,156 (GRCm39) missense probably benign 0.43
Z1176:Hacd2 UTSW 16 34,926,695 (GRCm39) missense probably damaging 0.98
Posted On 2015-04-16