Incidental Mutation 'IGL02214:Hacd1'
ID284777
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: 0.167) question?
Stock #IGL02214
Quality Score
Status
Chromosome2
Chromosomal Location13850282-14056135 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 14026947 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 242 (V242M)
Ref Sequence ENSEMBL: ENSMUSP00000110401 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074854] [ENSMUST00000091429] [ENSMUST00000114753] [ENSMUST00000131730]
Predicted Effect probably damaging
Transcript: ENSMUST00000074854
AA Change: V242M

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000074397
Gene: ENSMUSG00000063275
AA Change: V242M

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: V242M

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000110401
Gene: ENSMUSG00000063275
AA Change: V242M

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
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430097D07Rik T C 2: 32,574,724 probably benign Het
A330008L17Rik T A 8: 99,421,758 noncoding transcript Het
A930004D18Rik A G 2: 18,027,256 L17P unknown Het
Abca14 A T 7: 120,294,175 M1283L probably benign Het
Adarb1 A T 10: 77,322,301 V104E probably damaging Het
Ano1 T A 7: 144,655,708 N252Y possibly damaging Het
Atp6v0a1 A G 11: 101,039,840 S498G probably benign Het
Bdp1 A G 13: 100,041,535 V1942A probably benign Het
Carf T A 1: 60,148,081 D579E probably damaging Het
Cltc A T 11: 86,732,586 S200R probably benign Het
Cpeb1 T C 7: 81,372,057 S113G possibly damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Ehd3 T A 17: 73,820,546 L158H probably damaging Het
Etfa C A 9: 55,464,811 G289W probably damaging Het
Fndc3c1 G A X: 106,425,829 T1029I probably benign Het
Gipr C A 7: 19,157,546 G402V possibly damaging Het
Gm5724 T A 6: 141,723,185 D507V possibly damaging Het
Hecw1 A G 13: 14,300,393 L520P probably damaging Het
Ibtk A T 9: 85,714,179 probably benign Het
Igkv16-104 A C 6: 68,425,794 I24L probably benign Het
Kcnh8 A T 17: 52,877,911 Y407F possibly damaging Het
Mansc1 C T 6: 134,610,360 V285M probably benign Het
Mindy4 A G 6: 55,216,651 R110G possibly damaging Het
Morn1 C T 4: 155,092,319 H100Y probably damaging Het
Naip6 A T 13: 100,316,059 S165T probably damaging Het
Olfr1110 T G 2: 87,135,505 K272T probably damaging Het
Olfr538 A T 7: 140,574,557 R135* probably null Het
Prx G T 7: 27,518,912 R946M probably damaging Het
Ptchd1 A G X: 155,573,710 V833A possibly damaging Het
Rgl2 A G 17: 33,935,189 D481G probably benign Het
Serpinb3a A G 1: 107,048,488 probably null Het
Shtn1 T C 19: 58,999,886 probably benign Het
Sult1b1 C T 5: 87,535,090 probably benign Het
Tbl3 T C 17: 24,704,132 probably benign Het
Trappc9 C T 15: 73,012,882 W416* probably null Het
Ubr4 G A 4: 139,461,827 probably null Het
Ubr4 T C 4: 139,428,583 Y2240H possibly damaging Het
Vmn2r76 A C 7: 86,229,930 F387L probably benign Het
Vps8 G A 16: 21,517,285 C729Y probably damaging Het
Other mutations in Hacd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01622:Hacd1 APN 2 14035856 missense probably benign 0.04
IGL01623:Hacd1 APN 2 14035856 missense probably benign 0.04
IGL01884:Hacd1 APN 2 14035782 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
R8905:Hacd1 UTSW 2 14044950 missense possibly damaging 0.89
Z1176:Hacd1 UTSW 2 14035795 missense probably damaging 1.00
Posted On2015-04-16