Incidental Mutation 'IGL02059:Hacl1'
ID 185321
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 # IGL02059
Quality Score
Status
Chromosome 14
Chromosomal Location 31329183-31364201 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31354891 bp (GRCm39)
Zygosity Heterozygous
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] [ENSMUST00000167175] [ENSMUST00000167066] [ENSMUST00000171414] [ENSMUST00000165955]
AlphaFold Q9QXE0
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 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: 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: 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 noncoding transcript
Transcript: ENSMUST00000156189
Predicted Effect probably benign
Transcript: ENSMUST00000171414
SMART Domains Protein: ENSMUSP00000130268
Gene: ENSMUSG00000021884

DomainStartEndE-ValueType
Pfam:TPP_enzyme_N 17 109 1.3e-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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A C 11: 110,051,220 (GRCm39) probably benign Het
Anks1 A G 17: 28,227,020 (GRCm39) M558V possibly damaging Het
Arhgef1 T A 7: 24,611,977 (GRCm39) probably benign Het
Atad3a G A 4: 155,839,207 (GRCm39) probably benign Het
Bhmt2 A G 13: 93,803,171 (GRCm39) Y121H probably benign Het
Cbx5 A G 15: 103,108,192 (GRCm39) V151A probably damaging Het
Copa T A 1: 171,927,320 (GRCm39) I231N probably damaging Het
Csf3r T A 4: 125,925,920 (GRCm39) C168* probably null Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dnah9 A T 11: 65,963,784 (GRCm39) I1723N probably damaging Het
Epb42 G A 2: 120,855,188 (GRCm39) P466S probably damaging Het
Fem1b C T 9: 62,703,446 (GRCm39) V605I possibly damaging Het
Gclc T G 9: 77,695,098 (GRCm39) S403A probably damaging Het
Gpr135 A T 12: 72,116,858 (GRCm39) V303D possibly damaging Het
Gprin3 C A 6: 59,332,310 (GRCm39) probably benign Het
Grik1 T A 16: 87,852,937 (GRCm39) Q82L possibly damaging Het
Hdac9 A G 12: 34,481,967 (GRCm39) V146A probably damaging Het
Hltf T C 3: 20,160,621 (GRCm39) F763L probably benign Het
Impg2 C T 16: 56,080,335 (GRCm39) S713L probably damaging Het
Ints7 T A 1: 191,347,872 (GRCm39) M748K probably benign Het
Kalrn A G 16: 34,072,711 (GRCm39) S724P possibly damaging Het
Kyat1 T C 2: 30,075,565 (GRCm39) Q359R probably benign Het
Mtmr4 A G 11: 87,491,950 (GRCm39) N206S possibly damaging Het
Nos3 T C 5: 24,573,996 (GRCm39) I227T probably damaging Het
Or52e2 T C 7: 102,804,310 (GRCm39) I215V probably benign Het
Pde1a A T 2: 79,727,421 (GRCm39) H169Q possibly damaging Het
Ppp1r13b A T 12: 111,799,781 (GRCm39) D665E probably damaging Het
Prickle4 G T 17: 48,001,174 (GRCm39) L131M probably damaging Het
Prl6a1 T A 13: 27,499,348 (GRCm39) Y39N probably benign Het
Slco6d1 T C 1: 98,374,531 (GRCm39) V350A possibly damaging Het
Srsf7 T A 17: 80,510,121 (GRCm39) S209C probably null Het
Syde2 C T 3: 145,707,927 (GRCm39) A622V possibly damaging Het
Ugt1a6a T A 1: 88,066,403 (GRCm39) S70T possibly damaging Het
Vmn2r39 T C 7: 9,026,643 (GRCm39) I453V probably benign Het
Zc3h7a A G 16: 10,978,862 (GRCm39) probably benign Het
Zeb1 G T 18: 5,766,892 (GRCm39) V468F probably damaging Het
Zfp148 T A 16: 33,316,933 (GRCm39) V493D probably damaging Het
Other mutations in Hacl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01358:Hacl1 APN 14 31,348,374 (GRCm39) missense probably benign 0.04
IGL01548:Hacl1 APN 14 31,362,553 (GRCm39) missense possibly damaging 0.78
IGL01952:Hacl1 APN 14 31,363,079 (GRCm39) unclassified probably benign
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 2014-05-07