Incidental Mutation 'IGL01622:Hacd1'
ID278616
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hacd1
Ensembl Gene ENSMUSG00000063275
Gene Name3-hydroxyacyl-CoA dehydratase 1
SynonymsPtpla
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.236) question?
Stock #IGL01622
Quality Score
Status
Chromosome2
Chromosomal Location13850282-14056135 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 14035856 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 196 (V196A)
Ref Sequence ENSEMBL: ENSMUSP00000110401 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074854] [ENSMUST00000091429] [ENSMUST00000114753] [ENSMUST00000131730]
Predicted Effect probably benign
Transcript: ENSMUST00000074854
AA Change: V196A

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000074397
Gene: ENSMUSG00000063275
AA Change: V196A

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 probably benign
Transcript: ENSMUST00000114753
AA Change: V196A

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000110401
Gene: ENSMUSG00000063275
AA Change: V196A

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
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik G A 14: 35,810,067 Q184* probably null Het
A1bg A C 15: 60,917,893 I502S possibly damaging Het
Actl11 T C 9: 107,928,576 S33P probably benign Het
Aftph G T 11: 20,709,632 D730E probably damaging Het
Arhgap29 A G 3: 121,974,124 probably benign Het
Brf1 T G 12: 112,961,175 E643A probably benign Het
Caskin1 G T 17: 24,503,940 probably null Het
Ccnjl T C 11: 43,585,327 V259A probably benign Het
Ccser2 G T 14: 36,940,963 T88K probably benign Het
Cdk17 T C 10: 93,238,962 probably benign Het
Clec16a G A 16: 10,577,910 S309N possibly damaging Het
Cpxm1 C A 2: 130,391,271 A633S probably benign Het
Ctnnbl1 A T 2: 157,819,548 N326I probably damaging Het
Cyp46a1 T C 12: 108,351,975 V215A possibly damaging Het
Daxx A G 17: 33,913,480 D528G probably benign Het
Dnah6 T C 6: 73,144,718 Y1427C probably damaging Het
Dpy19l3 G A 7: 35,722,744 T228I probably damaging Het
Fam131c C T 4: 141,382,450 A131V possibly damaging Het
Fam71e2 A G 7: 4,758,723 V330A probably benign Het
Fat1 A G 8: 45,029,555 T3061A possibly damaging Het
Fgl2 T A 5: 21,373,177 L154H possibly damaging Het
Fhod3 T A 18: 25,022,867 I514K probably benign Het
Ficd G A 5: 113,738,561 G266S probably damaging Het
Frem3 A G 8: 80,613,915 T946A probably benign Het
Gan T A 8: 117,187,178 V105D probably damaging Het
Gramd1c A G 16: 43,990,698 V221A probably damaging Het
Kcna6 C A 6: 126,738,613 V438L probably damaging Het
Kif14 T C 1: 136,497,356 probably benign Het
Klhl41 T C 2: 69,678,238 V512A probably benign Het
Lrfn1 A G 7: 28,466,686 T502A probably damaging Het
Notch3 A T 17: 32,158,870 F105I possibly damaging Het
Olfr1023 A T 2: 85,886,962 H54L probably benign Het
Olfr142 T G 2: 90,252,609 K126N probably damaging Het
P3h1 C T 4: 119,235,283 T171I probably damaging Het
Pcdhb1 A G 18: 37,266,313 E439G possibly damaging Het
Pik3c3 A T 18: 30,290,525 K225* probably null Het
Pik3c3 A G 18: 30,293,049 probably benign Het
Pik3r5 T A 11: 68,486,626 probably null Het
Pnpt1 A C 11: 29,148,272 probably benign Het
Ppp2r1b T A 9: 50,878,122 V495D probably damaging Het
Rbfox3 C A 11: 118,505,614 probably benign Het
Sec14l2 G A 11: 4,103,966 P234S possibly damaging Het
Sec16a A C 2: 26,438,903 D1033E probably benign Het
Sept14 A G 5: 129,685,955 V357A probably damaging Het
Sf3a3 C T 4: 124,718,343 T131I possibly damaging Het
Snrpa A T 7: 27,192,970 M55K probably benign Het
Swt1 G T 1: 151,411,009 T244N probably benign Het
Tbl1xr1 A G 3: 22,192,074 T253A probably benign Het
Tst G T 15: 78,399,764 R288S probably benign Het
Vmn2r60 A G 7: 42,136,486 I238V probably benign Het
Zbtb14 A G 17: 69,388,189 K294R probably benign Het
Zfp710 T A 7: 80,081,123 V16E probably damaging Het
Zfpm2 A G 15: 41,101,924 T602A probably benign Het
Zfr2 G A 10: 81,251,359 M850I probably benign Het
Other mutations in Hacd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01623:Hacd1 APN 2 14035856 missense probably benign 0.04
IGL01884:Hacd1 APN 2 14035782 missense probably damaging 1.00
IGL02214:Hacd1 APN 2 14026947 missense probably damaging 1.00
IGL02529:Hacd1 APN 2 14045202 missense probably damaging 1.00
R2340:Hacd1 UTSW 2 14035887 missense probably damaging 1.00
R3429:Hacd1 UTSW 2 14044775 splice site probably benign
R4946:Hacd1 UTSW 2 14045137 critical splice donor site probably null
R5103:Hacd1 UTSW 2 14040913 missense probably damaging 1.00
R6468:Hacd1 UTSW 2 14035944 missense probably damaging 0.98
R6626:Hacd1 UTSW 2 14026944 missense probably benign 0.10
R6957:Hacd1 UTSW 2 14044853 missense probably damaging 1.00
R7643:Hacd1 UTSW 2 14044791 missense probably damaging 1.00
R7862:Hacd1 UTSW 2 14045202 missense probably damaging 1.00
R8146:Hacd1 UTSW 2 14044794 missense probably damaging 1.00
Z1176:Hacd1 UTSW 2 14035795 missense probably damaging 1.00
Posted On2015-04-16