Incidental Mutation 'R9782:Hacd1'
ID 734092
Institutional Source Beutler Lab
Gene Symbol Hacd1
Ensembl Gene ENSMUSG00000063275
Gene Name 3-hydroxyacyl-CoA dehydratase 1
Synonyms Ptpla
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.192) question?
Stock # R9782 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 14031642-14060846 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 14040751 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 168 (I168T)
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 possibly damaging
Transcript: ENSMUST00000074854
AA Change: I168T

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000074397
Gene: ENSMUSG00000063275
AA Change: I168T

DomainStartEndE-ValueType
transmembrane domain 28 50 N/A INTRINSIC
Pfam:PTPLA 79 242 1.7e-60 PFAM
Predicted Effect silent
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 possibly damaging
Transcript: ENSMUST00000114753
AA Change: I168T

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110401
Gene: ENSMUSG00000063275
AA Change: I168T

DomainStartEndE-ValueType
transmembrane domain 28 50 N/A INTRINSIC
Pfam:PTPLA 79 240 3e-61 PFAM
Predicted Effect silent
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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.3%
  • 20x: 98.1%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik T A 5: 64,053,796 (GRCm39) M1K probably null Het
Atoh8 A T 6: 72,200,848 (GRCm39) L281M possibly damaging Het
Bckdha A G 7: 25,340,880 (GRCm39) probably null Het
Chil6 A T 3: 106,296,121 (GRCm39) Y371* probably null Het
Cilk1 A T 9: 78,048,520 (GRCm39) Q108L probably damaging Het
Fbxw18 G T 9: 109,522,376 (GRCm39) H164Q probably benign Het
Gucd1 T G 10: 75,345,650 (GRCm39) D135A probably benign Het
Hfm1 T C 5: 107,021,896 (GRCm39) E1013G probably benign Het
Hsf4 G A 8: 105,999,217 (GRCm39) probably null Het
Ift140 G T 17: 25,264,151 (GRCm39) probably null Het
Igsf3 A T 3: 101,338,612 (GRCm39) I309F probably benign Het
Imp4 T A 1: 34,482,901 (GRCm39) L164Q probably damaging Het
Jazf1 C T 6: 52,747,311 (GRCm39) V204I probably benign Het
Kmt2d T A 15: 98,764,597 (GRCm39) D2V probably damaging Het
Knl1 T C 2: 118,899,910 (GRCm39) V537A probably benign Het
Mep1b A T 18: 21,208,720 (GRCm39) D32V possibly damaging Het
Mki67 A G 7: 135,306,066 (GRCm39) probably null Het
Morn3 C T 5: 123,175,822 (GRCm39) V189M probably damaging Het
Mri1 C T 8: 84,980,933 (GRCm39) C199Y possibly damaging Het
Mtmr2 T C 9: 13,713,293 (GRCm39) M490T probably benign Het
Muc16 T C 9: 18,548,066 (GRCm39) T6076A possibly damaging Het
Myo1c A G 11: 75,549,273 (GRCm39) E113G probably damaging Het
Nat8f4 A T 6: 85,878,052 (GRCm39) V157D probably damaging Het
Nectin4 T C 1: 171,214,192 (GRCm39) V449A probably damaging Het
Ogdhl C T 14: 32,061,909 (GRCm39) T528M probably damaging Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Or4c100 G A 2: 88,356,835 (GRCm39) V303M probably benign Het
Or52l1 A G 7: 104,830,067 (GRCm39) V166A probably damaging Het
Pcdhb12 AT A 18: 37,570,393 (GRCm39) probably null Het
Pigo T C 4: 43,023,475 (GRCm39) D233G probably damaging Het
Pkn2 A C 3: 142,516,237 (GRCm39) V562G possibly damaging Het
Plxna1 C A 6: 89,333,817 (GRCm39) A271S probably benign Het
Ppp1r3a C T 6: 14,718,766 (GRCm39) S716N probably damaging Het
Prss12 G A 3: 123,271,762 (GRCm39) G256S probably benign Het
Psg28 A T 7: 18,164,331 (GRCm39) M127K probably benign Het
Psmf1 T C 2: 151,577,533 (GRCm39) D48G possibly damaging Het
Rabggta T A 14: 55,955,944 (GRCm39) M438L possibly damaging Het
Rapgef3 T C 15: 97,643,479 (GRCm39) I911V probably damaging Het
Rbck1 T C 2: 152,165,113 (GRCm39) E297G probably damaging Het
Rras A T 7: 44,669,945 (GRCm39) I126F probably damaging Het
Slc22a28 T C 19: 8,041,813 (GRCm39) R465G probably null Het
Slc28a2b T A 2: 122,352,338 (GRCm39) I365N probably damaging Het
Snx19 A G 9: 30,340,172 (GRCm39) T437A probably benign Het
Son A T 16: 91,444,838 (GRCm39) S15C probably damaging Het
Spata31e1 C T 13: 49,939,542 (GRCm39) V723M possibly damaging Het
Sptbn4 G T 7: 27,107,993 (GRCm39) Q810K probably benign Het
Tmtc2 T C 10: 105,026,062 (GRCm39) Y802C probably damaging Het
Trrap T A 5: 144,758,716 (GRCm39) M2181K probably damaging Het
Ttc23l A G 15: 10,530,767 (GRCm39) S282P probably damaging Het
Zbtb7a G A 10: 80,979,910 (GRCm39) D35N probably damaging Het
Zc3h3 C A 15: 75,681,489 (GRCm39) V531L probably damaging Het
Zfhx4 A G 3: 5,466,514 (GRCm39) D2249G probably benign Het
Zfp87 T C 13: 74,520,932 (GRCm39) K49E probably benign Het
Zfp942 T C 17: 22,147,463 (GRCm39) T389A probably benign 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
IGL01884:Hacd1 APN 2 14,040,593 (GRCm39) missense probably damaging 1.00
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
Z1176:Hacd1 UTSW 2 14,040,606 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAGCAAGCCTGTACTTACACGG -3'
(R):5'- TATATTGTCACTGAGCAAGGGAAC -3'

Sequencing Primer
(F):5'- CTGTACTTACACGGTATATAGGAGGC -3'
(R):5'- CAAGGTGATAATTAGCAAGCATATGC -3'
Posted On 2022-11-14