Incidental Mutation 'IGL01548:Hacl1'
ID 93201
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hacl1
Ensembl Gene ENSMUSG00000021884
Gene Name 2-hydroxyacyl-CoA lyase 1
Synonyms Phyh2, Hpcl, 1600020H07Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01548
Quality Score
Status
Chromosome 14
Chromosomal Location 31329183-31364201 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 31362553 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 31 (D31E)
Ref Sequence ENSEMBL: ENSMUSP00000114879 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022437] [ENSMUST00000090147] [ENSMUST00000127204] [ENSMUST00000128629] [ENSMUST00000134626] [ENSMUST00000171414] [ENSMUST00000165955] [ENSMUST00000167066] [ENSMUST00000156431] [ENSMUST00000167175]
AlphaFold Q9QXE0
Predicted Effect probably benign
Transcript: ENSMUST00000022437
AA Change: D31E

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000022437
Gene: ENSMUSG00000021884
AA Change: D31E

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: ENSMUST00000090147
SMART Domains Protein: ENSMUSP00000087608
Gene: ENSMUSG00000021900

DomainStartEndE-ValueType
signal peptide 1 34 N/A INTRINSIC
Pfam:CN_hydrolase 63 287 3.9e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127204
AA Change: D31E

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000120452
Gene: ENSMUSG00000021884
AA Change: D31E

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: ENSMUST00000128014
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 possibly damaging
Transcript: ENSMUST00000134626
AA Change: D31E

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000114879
Gene: ENSMUSG00000021884
AA Change: D31E

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 possibly damaging
Transcript: ENSMUST00000171414
AA Change: D31E

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000130268
Gene: ENSMUSG00000021884
AA Change: D31E

DomainStartEndE-ValueType
Pfam:TPP_enzyme_N 17 109 1.3e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165955
AA Change: D31E

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000129090
Gene: ENSMUSG00000021884
AA Change: D31E

DomainStartEndE-ValueType
Pfam:TPP_enzyme_N 17 105 3.7e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167066
AA Change: D31E

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000132913
Gene: ENSMUSG00000021884
AA Change: D31E

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: ENSMUST00000156431
AA Change: D31E

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000114922
Gene: ENSMUSG00000021884
AA Change: D31E

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: ENSMUST00000167175
AA Change: D31E

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000128588
Gene: ENSMUSG00000115022
AA Change: D31E

DomainStartEndE-ValueType
Pfam:TPP_enzyme_N 17 139 3.6e-35 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot3 C T 12: 84,103,863 (GRCm39) T224I probably benign Het
Adamts18 C T 8: 114,490,931 (GRCm39) G512E probably damaging Het
Atp4b A G 8: 13,439,679 (GRCm39) I181T probably damaging Het
Bcl11a A G 11: 24,113,346 (GRCm39) I230V probably benign Het
Cenpj C A 14: 56,769,776 (GRCm39) V1138L probably benign Het
Cep78 A G 19: 15,958,564 (GRCm39) probably benign Het
Clec2j T A 6: 128,632,941 (GRCm39) noncoding transcript Het
Col5a3 T C 9: 20,714,296 (GRCm39) probably benign Het
Cpne6 A T 14: 55,750,183 (GRCm39) T105S probably damaging Het
Csmd1 A T 8: 16,338,660 (GRCm39) Y482* probably null Het
Ctrl C A 8: 106,659,890 (GRCm39) probably benign Het
Dhcr24 T A 4: 106,431,068 (GRCm39) C252* probably null Het
Dnaaf9 T C 2: 130,656,179 (GRCm39) N110D probably damaging Het
Dnah17 G A 11: 117,989,438 (GRCm39) P1261S probably benign Het
Dnai2 T C 11: 114,643,768 (GRCm39) L466P probably damaging Het
Dync2h1 A T 9: 7,071,922 (GRCm39) F3036Y probably damaging Het
Eef1akmt2 A C 7: 132,433,134 (GRCm39) S191A probably damaging Het
Fat4 G A 3: 39,063,406 (GRCm39) C4454Y probably damaging Het
Fat4 T C 3: 38,941,907 (GRCm39) S267P probably damaging Het
Frrs1 T C 3: 116,678,834 (GRCm39) C219R probably damaging Het
Gabra6 T A 11: 42,207,850 (GRCm39) Q207L probably damaging Het
Gm19668 A T 10: 77,634,242 (GRCm39) C242* probably null Het
Gm2840 G A 5: 96,322,136 (GRCm39) noncoding transcript Het
Gmcl1p1 G A X: 3,078,226 (GRCm39) G423S probably benign Het
Golim4 C T 3: 75,815,432 (GRCm39) probably null Het
Gucy1b1 G T 3: 81,942,169 (GRCm39) T530K probably damaging Het
Hectd4 A G 5: 121,502,723 (GRCm39) T4276A possibly damaging Het
Henmt1 T C 3: 108,850,095 (GRCm39) I26T probably damaging Het
Hspa1l G A 17: 35,197,367 (GRCm39) A469T probably damaging Het
Htra3 T A 5: 35,821,420 (GRCm39) probably null Het
Lrrc28 C A 7: 67,278,042 (GRCm39) probably null Het
Mfhas1 T C 8: 36,057,613 (GRCm39) L696P probably damaging Het
Mios A G 6: 8,234,252 (GRCm39) K808E possibly damaging Het
Mtnr1b A G 9: 15,774,496 (GRCm39) Y188H probably damaging Het
Myom1 A G 17: 71,408,215 (GRCm39) probably benign Het
Naca A T 10: 127,876,773 (GRCm39) probably benign Het
Nckap1l T A 15: 103,371,147 (GRCm39) V213D probably benign Het
Ndufa6 C T 15: 82,238,282 (GRCm39) V50M possibly damaging Het
Or4c35 T A 2: 89,808,883 (GRCm39) F254I possibly damaging Het
Or5b111 A G 19: 13,291,350 (GRCm39) F100L possibly damaging Het
Or5g23 A G 2: 85,439,105 (GRCm39) W50R probably benign Het
Or8b56 A G 9: 38,739,646 (GRCm39) T220A probably benign Het
Or8k53 T A 2: 86,178,077 (GRCm39) Y11F possibly damaging Het
Osbpl1a T C 18: 12,896,632 (GRCm39) Y311C probably damaging Het
Parp11 A C 6: 127,468,562 (GRCm39) Y204S probably damaging Het
Pla2g4a A G 1: 149,808,407 (GRCm39) probably null Het
Plec T C 15: 76,073,458 (GRCm39) R519G probably benign Het
Ppp2r5c T A 12: 110,534,261 (GRCm39) Y375N probably benign Het
Prss35 C A 9: 86,637,327 (GRCm39) S32R probably benign Het
Prss57 C T 10: 79,621,581 (GRCm39) probably benign Het
Ptprc A C 1: 138,027,219 (GRCm39) probably null Het
Rims1 A G 1: 22,577,683 (GRCm39) C188R probably damaging Het
Ripk4 G T 16: 97,552,696 (GRCm39) Y144* probably null Het
Rpgrip1 A T 14: 52,363,728 (GRCm39) probably benign Het
Rps6ka4 A G 19: 6,809,691 (GRCm39) V378A probably benign Het
Rtf1 A G 2: 119,542,589 (GRCm39) K298E probably benign Het
Sdk1 T C 5: 142,071,520 (GRCm39) F1237L possibly damaging Het
Slc40a1 T C 1: 45,948,652 (GRCm39) K543E probably benign Het
Slco1a8 A G 6: 141,938,238 (GRCm39) I227T possibly damaging Het
Sorcs3 A T 19: 48,782,607 (GRCm39) I1041F possibly damaging Het
Spata31e4 A G 13: 50,854,414 (GRCm39) T91A probably benign Het
Spata31f3 T C 4: 42,868,564 (GRCm39) E353G probably benign Het
Taok3 T C 5: 117,410,262 (GRCm39) M818T probably benign Het
Tas2r119 T A 15: 32,178,123 (GRCm39) F230I probably damaging Het
Tbc1d8 T C 1: 39,420,385 (GRCm39) D716G probably damaging Het
Tfg A G 16: 56,521,465 (GRCm39) S58P probably damaging Het
Thnsl1 A G 2: 21,217,943 (GRCm39) I45V probably damaging Het
Tle1 A G 4: 72,088,955 (GRCm39) L96P probably damaging Het
Tmem260 A C 14: 48,717,782 (GRCm39) S276R possibly damaging Het
Utp20 A G 10: 88,600,643 (GRCm39) S24P probably damaging Het
Vcam1 T C 3: 115,909,600 (GRCm39) I576V probably benign Het
Vmn1r27 G T 6: 58,192,538 (GRCm39) N105K probably benign Het
Vmn2r12 A C 5: 109,240,893 (GRCm39) Y73* probably null Het
Vmn2r86 T C 10: 130,282,151 (GRCm39) I822V probably benign Het
Wdr6 C T 9: 108,452,096 (GRCm39) V596I possibly damaging Het
Zfp946 A T 17: 22,673,643 (GRCm39) K132N possibly damaging Het
Other mutations in Hacl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01358:Hacl1 APN 14 31,348,374 (GRCm39) missense probably benign 0.04
IGL01952:Hacl1 APN 14 31,363,079 (GRCm39) unclassified probably benign
IGL02059:Hacl1 APN 14 31,354,891 (GRCm39) missense probably benign 0.00
IGL02138:Hacl1 APN 14 31,352,940 (GRCm39) missense probably benign 0.05
IGL02637:Hacl1 APN 14 31,362,458 (GRCm39) missense probably damaging 1.00
IGL03235:Hacl1 APN 14 31,352,995 (GRCm39) nonsense probably null
R0502:Hacl1 UTSW 14 31,344,941 (GRCm39) splice site probably benign
R1697:Hacl1 UTSW 14 31,342,957 (GRCm39) splice site probably null
R1800:Hacl1 UTSW 14 31,336,221 (GRCm39) missense probably damaging 1.00
R1829:Hacl1 UTSW 14 31,362,491 (GRCm39) missense probably benign 0.00
R3937:Hacl1 UTSW 14 31,356,148 (GRCm39) splice site probably benign
R3938:Hacl1 UTSW 14 31,356,148 (GRCm39) splice site probably benign
R5004:Hacl1 UTSW 14 31,340,996 (GRCm39) missense probably benign
R5776:Hacl1 UTSW 14 31,344,828 (GRCm39) missense possibly damaging 0.90
R5868:Hacl1 UTSW 14 31,341,873 (GRCm39) missense probably damaging 1.00
R5929:Hacl1 UTSW 14 31,338,345 (GRCm39) missense probably benign 0.04
R6261:Hacl1 UTSW 14 31,357,728 (GRCm39) missense probably damaging 1.00
R6996:Hacl1 UTSW 14 31,337,380 (GRCm39) missense possibly damaging 0.96
R7298:Hacl1 UTSW 14 31,338,443 (GRCm39) missense probably damaging 1.00
R7768:Hacl1 UTSW 14 31,338,437 (GRCm39) missense probably damaging 1.00
R7887:Hacl1 UTSW 14 31,356,184 (GRCm39) missense probably damaging 1.00
R8384:Hacl1 UTSW 14 31,356,154 (GRCm39) critical splice donor site probably null
R9139:Hacl1 UTSW 14 31,338,338 (GRCm39) missense probably benign 0.00
R9571:Hacl1 UTSW 14 31,344,838 (GRCm39) missense possibly damaging 0.72
R9598:Hacl1 UTSW 14 31,332,197 (GRCm39) missense probably benign 0.05
R9780:Hacl1 UTSW 14 31,362,519 (GRCm39) missense possibly damaging 0.95
Posted On 2013-12-09