Incidental Mutation 'IGL02059:Hacl1'
ID185321
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hacl1
Ensembl Gene ENSMUSG00000021884
Gene Name2-hydroxyacyl-CoA lyase 1
SynonymsHpcl, Phyh2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02059
Quality Score
Status
Chromosome14
Chromosomal Location31598730-31641286 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 31632934 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 118 (N118D)
Ref Sequence ENSEMBL: ENSMUSP00000132913 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022437] [ENSMUST00000127204] [ENSMUST00000128629] [ENSMUST00000134626] [ENSMUST00000156431] [ENSMUST00000165955] [ENSMUST00000167066] [ENSMUST00000167175] [ENSMUST00000171414]
Predicted Effect probably benign
Transcript: ENSMUST00000022437
AA Change: N118D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000022437
Gene: ENSMUSG00000021884
AA Change: N118D

DomainStartEndE-ValueType
Pfam:TPP_enzyme_N 17 185 6.1e-46 PFAM
Pfam:TPP_enzyme_M 206 335 1.9e-34 PFAM
Pfam:TPP_enzyme_C 400 560 1.6e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127204
AA Change: N91D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000120452
Gene: ENSMUSG00000021884
AA Change: N91D

DomainStartEndE-ValueType
Pfam:TPP_enzyme_N 17 81 1.3e-14 PFAM
Pfam:TPP_enzyme_N 75 159 3.3e-14 PFAM
Pfam:TPP_enzyme_M 179 310 1.5e-34 PFAM
Pfam:TPP_enzyme_C 373 533 7.2e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128629
SMART Domains Protein: ENSMUSP00000125890
Gene: ENSMUSG00000021884

DomainStartEndE-ValueType
Pfam:TPP_enzyme_N 10 58 2.6e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134626
SMART Domains Protein: ENSMUSP00000114879
Gene: ENSMUSG00000021884

DomainStartEndE-ValueType
Pfam:TPP_enzyme_N 17 67 3e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135751
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155210
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156189
Predicted Effect probably benign
Transcript: ENSMUST00000156431
AA Change: N118D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000114922
Gene: ENSMUSG00000021884
AA Change: N118D

DomainStartEndE-ValueType
Pfam:TPP_enzyme_N 17 186 3.3e-46 PFAM
Pfam:TPP_enzyme_M 206 337 2.1e-34 PFAM
Pfam:TPP_enzyme_C 400 560 1.6e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165955
SMART Domains Protein: ENSMUSP00000129090
Gene: ENSMUSG00000021884

DomainStartEndE-ValueType
Pfam:TPP_enzyme_N 17 105 3.7e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167066
AA Change: N118D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000132913
Gene: ENSMUSG00000021884
AA Change: N118D

DomainStartEndE-ValueType
Pfam:TPP_enzyme_N 17 131 2.5e-33 PFAM
Pfam:TPP_enzyme_M 180 311 4.7e-34 PFAM
Pfam:TPP_enzyme_C 340 500 6.4e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167175
AA Change: N118D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000128588
Gene: ENSMUSG00000115022
AA Change: N118D

DomainStartEndE-ValueType
Pfam:TPP_enzyme_N 17 139 3.6e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171414
SMART Domains Protein: ENSMUSP00000130268
Gene: ENSMUSG00000021884

DomainStartEndE-ValueType
Pfam:TPP_enzyme_N 17 109 1.3e-27 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A C 11: 110,160,394 probably benign Het
Anks1 A G 17: 28,008,046 M558V possibly damaging Het
Arhgef1 T A 7: 24,912,552 probably benign Het
Atad3a G A 4: 155,754,750 probably benign Het
Bhmt2 A G 13: 93,666,663 Y121H probably benign Het
Cbx5 A G 15: 103,199,765 V151A probably damaging Het
Copa T A 1: 172,099,753 I231N probably damaging Het
Csf3r T A 4: 126,032,127 C168* probably null Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dnah9 A T 11: 66,072,958 I1723N probably damaging Het
Epb42 G A 2: 121,024,707 P466S probably damaging Het
Fem1b C T 9: 62,796,164 V605I possibly damaging Het
Gclc T G 9: 77,787,816 S403A probably damaging Het
Gpr135 A T 12: 72,070,084 V303D possibly damaging Het
Gprin3 C A 6: 59,355,325 probably benign Het
Grik1 T A 16: 88,056,049 Q82L possibly damaging Het
Hdac9 A G 12: 34,431,968 V146A probably damaging Het
Hltf T C 3: 20,106,457 F763L probably benign Het
Impg2 C T 16: 56,259,972 S713L probably damaging Het
Ints7 T A 1: 191,615,760 M748K probably benign Het
Kalrn A G 16: 34,252,341 S724P possibly damaging Het
Kyat1 T C 2: 30,185,553 Q359R probably benign Het
Mtmr4 A G 11: 87,601,124 N206S possibly damaging Het
Nos3 T C 5: 24,368,998 I227T probably damaging Het
Olfr589 T C 7: 103,155,103 I215V probably benign Het
Pde1a A T 2: 79,897,077 H169Q possibly damaging Het
Ppp1r13b A T 12: 111,833,347 D665E probably damaging Het
Prickle4 G T 17: 47,690,249 L131M probably damaging Het
Prl6a1 T A 13: 27,315,365 Y39N probably benign Het
Slco6d1 T C 1: 98,446,806 V350A possibly damaging Het
Srsf7 T A 17: 80,202,692 S209C probably null Het
Syde2 C T 3: 146,002,172 A622V possibly damaging Het
Ugt1a6a T A 1: 88,138,681 S70T possibly damaging Het
Vmn2r39 T C 7: 9,023,644 I453V probably benign Het
Zc3h7a A G 16: 11,160,998 probably benign Het
Zeb1 G T 18: 5,766,892 V468F probably damaging Het
Zfp148 T A 16: 33,496,563 V493D probably damaging Het
Other mutations in Hacl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01358:Hacl1 APN 14 31626417 missense probably benign 0.04
IGL01548:Hacl1 APN 14 31640596 missense possibly damaging 0.78
IGL01952:Hacl1 APN 14 31641122 unclassified probably benign
IGL02138:Hacl1 APN 14 31630983 missense probably benign 0.05
IGL02637:Hacl1 APN 14 31640501 missense probably damaging 1.00
IGL03235:Hacl1 APN 14 31631038 nonsense probably null
R0502:Hacl1 UTSW 14 31622984 splice site probably benign
R1697:Hacl1 UTSW 14 31621000 splice site probably null
R1800:Hacl1 UTSW 14 31614264 missense probably damaging 1.00
R1829:Hacl1 UTSW 14 31640534 missense probably benign 0.00
R3937:Hacl1 UTSW 14 31634191 splice site probably benign
R3938:Hacl1 UTSW 14 31634191 splice site probably benign
R5004:Hacl1 UTSW 14 31619039 missense probably benign
R5776:Hacl1 UTSW 14 31622871 missense possibly damaging 0.90
R5868:Hacl1 UTSW 14 31619916 missense probably damaging 1.00
R5929:Hacl1 UTSW 14 31616388 missense probably benign 0.04
R6261:Hacl1 UTSW 14 31635771 missense probably damaging 1.00
R6996:Hacl1 UTSW 14 31615423 missense possibly damaging 0.96
R7298:Hacl1 UTSW 14 31616486 missense probably damaging 1.00
Posted On2014-05-07