Incidental Mutation 'IGL01884:Hacd1'
ID 179070
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hacd1
Ensembl Gene ENSMUSG00000063275
Gene Name 3-hydroxyacyl-CoA dehydratase 1
Synonyms Ptpla
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.273) question?
Stock # IGL01884
Quality Score
Status
Chromosome 2
Chromosomal Location 14031642-14060846 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 14040593 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 221 (P221S)
Ref Sequence ENSEMBL: ENSMUSP00000110401 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074854] [ENSMUST00000091429] [ENSMUST00000114753] [ENSMUST00000131730]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000074854
AA Change: P221S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074397
Gene: ENSMUSG00000063275
AA Change: P221S

DomainStartEndE-ValueType
transmembrane domain 28 50 N/A INTRINSIC
Pfam:PTPLA 79 242 1.7e-60 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000091429
SMART Domains Protein: ENSMUSP00000088998
Gene: ENSMUSG00000063275

DomainStartEndE-ValueType
transmembrane domain 33 55 N/A INTRINSIC
Pfam:PTPLA 79 144 5.3e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000114753
AA Change: P221S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110401
Gene: ENSMUSG00000063275
AA Change: P221S

DomainStartEndE-ValueType
transmembrane domain 28 50 N/A INTRINSIC
Pfam:PTPLA 79 240 3e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131730
SMART Domains Protein: ENSMUSP00000141406
Gene: ENSMUSG00000063275

DomainStartEndE-ValueType
transmembrane domain 33 55 N/A INTRINSIC
Pfam:PTPLA 79 144 5.3e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195416
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 contains a characteristic catalytic motif of the protein tyrosine phosphatases (PTPs) family. The PTP motif of this protein has the highly conserved arginine residue replaced by a proline residue; thus it may represent a distinct class of PTPs. Members of the PTP family are known to be signaling molecules that regulate a variety of cellular processes. This gene was preferentially expressed in both adult and fetal heart. A much lower expression level was detected in skeletal and smooth muscle tissues, and no expression was observed in other tissues. The tissue specific expression in the developing and adult heart suggests a role in regulating cardiac development and differentiation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous knockout leads to decreased body size and weight and reduced skeletal muscle weight. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1190005I06Rik G A 8: 121,335,774 (GRCm39) probably benign Het
Col11a1 G A 3: 113,860,191 (GRCm39) G206R unknown Het
Cyp2e1 T C 7: 140,353,663 (GRCm39) Y426H probably benign Het
Fcrl1 A G 3: 87,292,044 (GRCm39) K68E probably damaging Het
Gabbr2 A G 4: 46,875,711 (GRCm39) V137A probably damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Kndc1 C T 7: 139,494,110 (GRCm39) T535I probably damaging Het
Lce1f G T 3: 92,626,608 (GRCm39) C16* probably null Het
Lrba C T 3: 86,217,719 (GRCm39) A543V possibly damaging Het
Lrp1b A T 2: 41,174,225 (GRCm39) C676* probably null Het
Mocos A G 18: 24,816,273 (GRCm39) K617E probably damaging Het
Muc5b A G 7: 141,421,820 (GRCm39) probably benign Het
Mylk A T 16: 34,809,247 (GRCm39) probably benign Het
Naip2 A G 13: 100,325,329 (GRCm39) probably benign Het
Or6c76 A G 10: 129,612,697 (GRCm39) K320E probably benign Het
Pcdhb5 C T 18: 37,454,387 (GRCm39) P256S probably benign Het
Rbl2 A G 8: 91,823,464 (GRCm39) E464G probably damaging Het
Rfc1 A T 5: 65,431,803 (GRCm39) L769Q possibly damaging Het
Setd7 T C 3: 51,450,132 (GRCm39) Y98C possibly damaging Het
Tbc1d8 A G 1: 39,415,526 (GRCm39) Y920H probably damaging Het
Tcte1 T C 17: 45,850,735 (GRCm39) probably null Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Other mutations in Hacd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01622:Hacd1 APN 2 14,040,667 (GRCm39) missense probably benign 0.04
IGL01623:Hacd1 APN 2 14,040,667 (GRCm39) missense probably benign 0.04
IGL02214:Hacd1 APN 2 14,031,758 (GRCm39) missense probably damaging 1.00
IGL02529:Hacd1 APN 2 14,050,013 (GRCm39) missense probably damaging 1.00
R2340:Hacd1 UTSW 2 14,040,698 (GRCm39) missense probably damaging 1.00
R3429:Hacd1 UTSW 2 14,049,586 (GRCm39) splice site probably benign
R4946:Hacd1 UTSW 2 14,049,948 (GRCm39) critical splice donor site probably null
R5103:Hacd1 UTSW 2 14,045,724 (GRCm39) missense probably damaging 1.00
R6468:Hacd1 UTSW 2 14,040,755 (GRCm39) missense probably damaging 0.98
R6626:Hacd1 UTSW 2 14,031,755 (GRCm39) missense probably benign 0.10
R6957:Hacd1 UTSW 2 14,049,664 (GRCm39) missense probably damaging 1.00
R7643:Hacd1 UTSW 2 14,049,602 (GRCm39) missense probably damaging 1.00
R7862:Hacd1 UTSW 2 14,050,013 (GRCm39) missense probably damaging 1.00
R8146:Hacd1 UTSW 2 14,049,605 (GRCm39) missense probably damaging 1.00
R8905:Hacd1 UTSW 2 14,049,761 (GRCm39) missense possibly damaging 0.89
R9632:Hacd1 UTSW 2 14,040,678 (GRCm39) missense possibly damaging 0.71
R9782:Hacd1 UTSW 2 14,040,751 (GRCm39) missense possibly damaging 0.94
Z1176:Hacd1 UTSW 2 14,040,606 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07