Incidental Mutation 'R5868:Hacl1'
ID 454296
Institutional Source Beutler Lab
Gene Symbol Hacl1
Ensembl Gene ENSMUSG00000021884
Gene Name 2-hydroxyacyl-CoA lyase 1
Synonyms Phyh2, Hpcl, 1600020H07Rik
MMRRC Submission 044076-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5868 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 31329183-31364201 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 31341873 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 311 (A311S)
Ref Sequence ENSEMBL: ENSMUSP00000114922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022437] [ENSMUST00000127204] [ENSMUST00000156431] [ENSMUST00000165955] [ENSMUST00000167066] [ENSMUST00000167175] [ENSMUST00000171414]
AlphaFold Q9QXE0
Predicted Effect probably damaging
Transcript: ENSMUST00000022437
AA Change: A311S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000022437
Gene: ENSMUSG00000021884
AA Change: A311S

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 damaging
Transcript: ENSMUST00000127204
AA Change: A284S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000120452
Gene: ENSMUSG00000021884
AA Change: A284S

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 probably damaging
Transcript: ENSMUST00000156431
AA Change: A311S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000114922
Gene: ENSMUSG00000021884
AA Change: A311S

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 damaging
Transcript: ENSMUST00000167066
AA Change: A285S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000132913
Gene: ENSMUSG00000021884
AA Change: A285S

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
SMART Domains Protein: ENSMUSP00000128588
Gene: ENSMUSG00000115022

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
Meta Mutation Damage Score 0.6279 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.2%
  • 20x: 90.8%
Validation Efficiency 95% (58/61)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810408A11Rik C A 11: 69,788,401 (GRCm39) K394N possibly damaging Het
Adamts18 T A 8: 114,504,380 (GRCm39) Q80L possibly damaging Het
Apbb2 T A 5: 66,609,439 (GRCm39) K69N probably damaging Het
Ascc3 C T 10: 50,718,279 (GRCm39) R1991* probably null Het
BC035947 T A 1: 78,474,960 (GRCm39) N524I probably damaging Het
Bpifa1 A G 2: 153,985,796 (GRCm39) N37S unknown Het
Cfap91 T A 16: 38,152,604 (GRCm39) D202V probably damaging Het
Crnkl1 A T 2: 145,760,473 (GRCm39) D648E probably benign Het
Cul5 C A 9: 53,569,973 (GRCm39) G86V probably benign Het
Cyfip1 A C 7: 55,576,061 (GRCm39) D1077A probably damaging Het
Dennd4a T C 9: 64,804,011 (GRCm39) S1117P probably benign Het
Dnaaf8 T C 16: 4,791,932 (GRCm39) noncoding transcript Het
Elmo2 A T 2: 165,136,192 (GRCm39) M618K possibly damaging Het
Fggy A G 4: 95,585,225 (GRCm39) T35A probably damaging Het
Gad2 G A 2: 22,575,079 (GRCm39) probably null Het
Gtf3c2 A C 5: 31,325,425 (GRCm39) F455V possibly damaging Het
H4c16 C T 6: 136,781,292 (GRCm39) G29D probably damaging Het
Kat6b G A 14: 21,684,547 (GRCm39) D611N probably damaging Het
Kifap3 T C 1: 163,693,041 (GRCm39) I611T probably damaging Het
Lrba A G 3: 86,226,911 (GRCm39) Y683C probably damaging Het
Mfsd14a T C 3: 116,427,399 (GRCm39) N413S probably benign Het
Mtmr11 T A 3: 96,078,518 (GRCm39) D691E possibly damaging Het
Mzf1 A T 7: 12,787,116 (GRCm39) F64I probably benign Het
Neu2 G T 1: 87,524,478 (GRCm39) Q154H probably damaging Het
Nid1 T C 13: 13,663,742 (GRCm39) probably null Het
Nod1 C A 6: 54,916,312 (GRCm39) K128N probably damaging Het
Noxred1 T A 12: 87,270,976 (GRCm39) Q215L possibly damaging Het
Npat A G 9: 53,481,424 (GRCm39) E1044G probably damaging Het
Npr1 A G 3: 90,366,800 (GRCm39) probably benign Het
Pdcd6 T C 13: 74,452,133 (GRCm39) D169G probably damaging Het
Pld3 G T 7: 27,237,093 (GRCm39) T262N probably benign Het
Plxna1 T C 6: 89,299,704 (GRCm39) probably benign Het
Prh1 A G 6: 132,549,174 (GRCm39) Q227R unknown Het
Prtg C A 9: 72,716,999 (GRCm39) Y113* probably null Het
Rbm27 T A 18: 42,433,450 (GRCm39) V242E possibly damaging Het
Ripor1 T C 8: 106,342,636 (GRCm39) L198P probably damaging Het
Rnpc3 T C 3: 113,410,360 (GRCm39) probably null Het
Serpinf2 T C 11: 75,324,065 (GRCm39) T321A probably benign Het
Sh3gl1 T C 17: 56,326,119 (GRCm39) D129G probably damaging Het
Slc12a2 C A 18: 58,077,068 (GRCm39) P1189Q probably damaging Het
Slc16a9 T C 10: 70,118,320 (GRCm39) M213T probably benign Het
Spata31f3 A T 4: 42,871,711 (GRCm39) D221E probably damaging Het
Svil G A 18: 5,056,854 (GRCm39) probably null Het
Synpo A G 18: 60,737,118 (GRCm39) L37P probably damaging Het
Tmprss9 A G 10: 80,718,580 (GRCm39) H87R probably benign Het
Tmtc1 A T 6: 148,139,353 (GRCm39) L885Q probably damaging Het
Ttc41 T C 10: 86,586,128 (GRCm39) S811P possibly damaging Het
Vmn2r23 T C 6: 123,689,901 (GRCm39) V259A probably benign Het
Wwox T A 8: 115,406,586 (GRCm39) H192Q probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- TGACTAGACATGCCACCAAGTA -3'
(R):5'- TTCCTAAAGGATTTTAAGAGCAAACA -3'

Sequencing Primer
(F):5'- GTAAATCAAAAGGAGCCTTGTCC -3'
(R):5'- TCGTTGGATACCAGGCATAC -3'
Posted On 2017-02-10