Incidental Mutation 'R6957:Hacd1'
ID 541488
Institutional Source Beutler Lab
Gene Symbol Hacd1
Ensembl Gene ENSMUSG00000063275
Gene Name 3-hydroxyacyl-CoA dehydratase 1
Synonyms Ptpla
MMRRC Submission 045068-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.192) question?
Stock # R6957 (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 T at 14049664 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 98 (V98E)
Ref Sequence ENSEMBL: ENSMUSP00000141406 (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: V98E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074397
Gene: ENSMUSG00000063275
AA Change: V98E

DomainStartEndE-ValueType
transmembrane domain 28 50 N/A INTRINSIC
Pfam:PTPLA 79 242 1.7e-60 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000091429
AA Change: V98E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000088998
Gene: ENSMUSG00000063275
AA Change: V98E

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: V98E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110401
Gene: ENSMUSG00000063275
AA Change: V98E

DomainStartEndE-ValueType
transmembrane domain 28 50 N/A INTRINSIC
Pfam:PTPLA 79 240 3e-61 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000131730
AA Change: V98E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141406
Gene: ENSMUSG00000063275
AA Change: V98E

DomainStartEndE-ValueType
transmembrane domain 33 55 N/A INTRINSIC
Pfam:PTPLA 79 144 5.3e-16 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310009B15Rik A G 1: 138,779,857 (GRCm39) S132P probably damaging Het
Abcb5 A G 12: 118,871,270 (GRCm39) F710L probably damaging Het
Acsm4 T G 7: 119,310,622 (GRCm39) V503G probably damaging Het
Adam26a T A 8: 44,021,940 (GRCm39) M517L probably benign Het
Adcy10 C A 1: 165,391,854 (GRCm39) L1345I probably damaging Het
Adgrv1 T C 13: 81,715,609 (GRCm39) I860V probably benign Het
Alcam T C 16: 52,097,257 (GRCm39) D333G probably damaging Het
Amt C A 9: 108,177,032 (GRCm39) F213L possibly damaging Het
Ascc3 A G 10: 50,604,278 (GRCm39) T1333A probably damaging Het
Asxl3 C A 18: 22,655,148 (GRCm39) L1053I probably damaging Het
Atxn10 T C 15: 85,220,699 (GRCm39) S12P probably damaging Het
AU021092 T C 16: 5,030,017 (GRCm39) I333V probably benign Het
Birc6 A G 17: 74,886,486 (GRCm39) I577V probably benign Het
Cadm2 A T 16: 66,609,726 (GRCm39) F132I probably benign Het
Casp3 T A 8: 47,087,308 (GRCm39) V85D probably damaging Het
Ccdc168 C T 1: 44,096,367 (GRCm39) C1577Y probably benign Het
Ccdc85a A T 11: 28,342,944 (GRCm39) probably benign Het
Cd22 T C 7: 30,566,999 (GRCm39) R760G possibly damaging Het
Cela3a A T 4: 137,135,441 (GRCm39) W41R probably damaging Het
Cep164 A G 9: 45,683,578 (GRCm39) probably null Het
Cntnap5b A G 1: 100,202,197 (GRCm39) E348G probably benign Het
Ddx20 C A 3: 105,591,626 (GRCm39) K181N probably benign Het
Dnah14 G C 1: 181,612,740 (GRCm39) A3846P possibly damaging Het
Ern1 A C 11: 106,294,365 (GRCm39) I813S probably damaging Het
Fam181a G A 12: 103,282,773 (GRCm39) G226D probably damaging Het
Fam186a T A 15: 99,844,357 (GRCm39) D629V unknown Het
Gipr T A 7: 18,898,529 (GRCm39) T26S probably benign Het
Gm3159 A G 14: 4,398,530 (GRCm38) R74G possibly damaging Het
Greb1l G A 18: 10,558,786 (GRCm39) V1814I probably benign Het
Iars1 T G 13: 49,875,637 (GRCm39) F775V probably damaging Het
Il12rb2 G A 6: 67,269,636 (GRCm39) L726F possibly damaging Het
Itih4 T C 14: 30,614,560 (GRCm39) V474A probably damaging Het
Kmt2a A C 9: 44,731,319 (GRCm39) probably benign Het
Ktn1 T A 14: 47,904,810 (GRCm39) L196* probably null Het
Lipo4 A G 19: 33,476,767 (GRCm39) V327A probably benign Het
Lratd2 T C 15: 60,694,934 (GRCm39) T271A probably benign Het
Lrit1 G C 14: 36,782,052 (GRCm39) V242L probably damaging Het
Lrp4 C A 2: 91,317,387 (GRCm39) T837K probably damaging Het
Mad1l1 G T 5: 140,051,572 (GRCm39) F664L probably damaging Het
Mecr A G 4: 131,589,172 (GRCm39) T247A probably benign Het
Msi1 G A 5: 115,583,483 (GRCm39) A228T probably benign Het
Mup5 T A 4: 61,751,273 (GRCm39) N125I probably damaging Het
Mybl2 C T 2: 162,914,728 (GRCm39) S282F possibly damaging Het
Myom2 G A 8: 15,167,741 (GRCm39) A1109T probably null Het
Nalcn T C 14: 123,744,966 (GRCm39) D354G probably damaging Het
Nckap1l T C 15: 103,399,938 (GRCm39) V1040A possibly damaging Het
Nlrp12 T A 7: 3,271,160 (GRCm39) D1051V probably damaging Het
Nudt7 A G 8: 114,860,385 (GRCm39) K16R probably benign Het
Or4b1 G T 2: 89,979,494 (GRCm39) Y285* probably null Het
Or8g29-ps1 A G 9: 39,200,577 (GRCm39) V203A unknown Het
Paqr3 A T 5: 97,256,110 (GRCm39) I88K possibly damaging Het
Parp9 A G 16: 35,768,716 (GRCm39) M299V probably benign Het
Pde4dip A T 3: 97,731,649 (GRCm39) probably null Het
Pex13 T G 11: 23,605,628 (GRCm39) M201L probably benign Het
Pfas C A 11: 68,884,709 (GRCm39) V498L probably benign Het
Phka2 G A X: 159,316,044 (GRCm39) V230I probably damaging Het
Plec T A 15: 76,070,414 (GRCm39) D932V probably damaging Het
Qng1 C A 13: 58,529,775 (GRCm39) C279F probably damaging Het
Qsox2 C T 2: 26,107,654 (GRCm39) A445T probably benign Het
Rapgef1 C A 2: 29,623,710 (GRCm39) Q820K possibly damaging Het
Samd13 A G 3: 146,368,424 (GRCm39) probably null Het
Samm50 G T 15: 84,082,850 (GRCm39) D104Y probably damaging Het
Sbk3 A T 7: 4,970,522 (GRCm39) F282L probably benign Het
Sfmbt1 C T 14: 30,509,546 (GRCm39) H342Y probably benign Het
Sgo2b CCATCATCATCATCATCATCAT CCATCATCATCATCATCAT 8: 64,384,489 (GRCm39) probably benign Het
Slc12a2 T A 18: 58,043,344 (GRCm39) L596* probably null Het
Spata31h1 A T 10: 82,129,620 (GRCm39) I1130K probably benign Het
St8sia3 T C 18: 64,404,853 (GRCm39) S377P probably benign Het
Stmnd1 T G 13: 46,427,375 (GRCm39) S28A probably benign Het
Syne3 A T 12: 104,920,561 (GRCm39) L458Q probably damaging Het
Synm C T 7: 67,385,848 (GRCm39) V163I probably benign Het
Tbc1d23 A G 16: 57,028,686 (GRCm39) C161R probably damaging Het
Tnfrsf4 G A 4: 156,100,625 (GRCm39) V215I probably benign Het
Vars2 T G 17: 35,977,967 (GRCm39) K67Q probably benign Het
Vmn2r13 A T 5: 109,304,753 (GRCm39) Y559* probably null Het
Wdpcp T C 11: 21,671,154 (GRCm39) I465T possibly damaging Het
Zwilch A C 9: 64,069,844 (GRCm39) probably null 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
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
Predicted Primers PCR Primer
(F):5'- AGCAGATGACTATACAGCCCATTC -3'
(R):5'- ACCCCTGCTGATGTGTATTTAATG -3'

Sequencing Primer
(F):5'- TGACTATACAGCCCATTCTACATCAG -3'
(R):5'- CCTGCTGATGTGTATTTAATGTTTCG -3'
Posted On 2018-11-28