Incidental Mutation 'R6261:Hacl1'
ID 506716
Institutional Source Beutler Lab
Gene Symbol Hacl1
Ensembl Gene ENSMUSG00000021884
Gene Name 2-hydroxyacyl-CoA lyase 1
Synonyms Phyh2, Hpcl, 1600020H07Rik
MMRRC Submission 044404-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6261 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 31329183-31364201 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 31357728 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 70 (A70V)
Ref Sequence ENSEMBL: ENSMUSP00000130268 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022437] [ENSMUST00000127204] [ENSMUST00000128629] [ENSMUST00000134626] [ENSMUST00000156431] [ENSMUST00000165955] [ENSMUST00000167066] [ENSMUST00000167175] [ENSMUST00000171414]
AlphaFold Q9QXE0
Predicted Effect probably damaging
Transcript: ENSMUST00000022437
AA Change: A70V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022437
Gene: ENSMUSG00000021884
AA Change: A70V

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: A70V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120452
Gene: ENSMUSG00000021884
AA Change: A70V

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 damaging
Transcript: ENSMUST00000156431
AA Change: A70V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114922
Gene: ENSMUSG00000021884
AA Change: A70V

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 damaging
Transcript: ENSMUST00000165955
AA Change: A70V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129090
Gene: ENSMUSG00000021884
AA Change: A70V

DomainStartEndE-ValueType
Pfam:TPP_enzyme_N 17 105 3.7e-28 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000167066
AA Change: A70V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000132913
Gene: ENSMUSG00000021884
AA Change: A70V

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 damaging
Transcript: ENSMUST00000167175
AA Change: A70V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128588
Gene: ENSMUSG00000115022
AA Change: A70V

DomainStartEndE-ValueType
Pfam:TPP_enzyme_N 17 139 3.6e-35 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000171414
AA Change: A70V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130268
Gene: ENSMUSG00000021884
AA Change: A70V

DomainStartEndE-ValueType
Pfam:TPP_enzyme_N 17 109 1.3e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156189
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.7%
Validation Efficiency 100% (65/65)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot8 T C 2: 164,636,979 (GRCm39) D257G probably damaging Het
Adamtsl1 T C 4: 86,255,115 (GRCm39) V736A probably benign Het
Anln A G 9: 22,275,342 (GRCm39) L521S probably damaging Het
Arfgap2 T G 2: 91,100,627 (GRCm39) S311A probably benign Het
Brdt A T 5: 107,496,369 (GRCm39) E160D probably benign Het
Ccdc187 A G 2: 26,166,215 (GRCm39) I738T probably damaging Het
Cd59a G C 2: 103,934,550 (GRCm39) G6A probably damaging Het
Cd5l C T 3: 87,275,915 (GRCm39) P295L probably benign Het
Cdhr17 T C 5: 17,017,183 (GRCm39) noncoding transcript Het
Cnot1 A G 8: 96,468,549 (GRCm39) S1432P probably benign Het
Cnot8 T A 11: 58,004,877 (GRCm39) I192N probably damaging Het
Col4a1 G T 8: 11,257,409 (GRCm39) probably null Het
Cuta A G 17: 27,158,301 (GRCm39) L11P possibly damaging Het
Cyp2c39 G A 19: 39,556,463 (GRCm39) R433H probably damaging Het
Cyp4a12b T A 4: 115,271,740 (GRCm39) Y150* probably null Het
Dcaf15 G A 8: 84,825,734 (GRCm39) A291V probably benign Het
Dcstamp A T 15: 39,618,131 (GRCm39) H180L possibly damaging Het
Egfr A G 11: 16,839,964 (GRCm39) I659M probably benign Het
Fzd8 A G 18: 9,214,598 (GRCm39) E560G possibly damaging Het
Gm5111 A T 6: 48,566,526 (GRCm39) probably benign Het
Gm7945 T C 14: 41,104,780 (GRCm39) T214A unknown Het
Gpi1 T C 7: 33,920,170 (GRCm39) T168A possibly damaging Het
Gys2 T C 6: 142,405,134 (GRCm39) I218V probably benign Het
Gzmf T A 14: 56,443,949 (GRCm39) I74L probably benign Het
Herc2 T A 7: 55,846,820 (GRCm39) L3590* probably null Het
Idh2 GGTCCCAG GG 7: 79,748,077 (GRCm39) probably benign Het
Igfals G T 17: 25,100,339 (GRCm39) V477F possibly damaging Het
Igkv8-28 A T 6: 70,120,874 (GRCm39) V23E probably benign Het
Isg20l2 T A 3: 87,839,395 (GRCm39) V202E probably damaging Het
Jakmip2 A G 18: 43,708,599 (GRCm39) I288T probably benign Het
Kansl3 A G 1: 36,404,686 (GRCm39) V88A probably benign Het
Kcna3 A G 3: 106,945,266 (GRCm39) T510A possibly damaging Het
Map2k5 G T 9: 63,245,380 (GRCm39) L140I probably benign Het
Map3k19 A G 1: 127,750,336 (GRCm39) I1005T possibly damaging Het
Mmp25 G A 17: 23,849,768 (GRCm39) A541V possibly damaging Het
Ms4a14 T A 19: 11,281,384 (GRCm39) E391D probably benign Het
Mtrf1l A G 10: 5,765,550 (GRCm39) probably null Het
Myom1 A G 17: 71,433,132 (GRCm39) N1591S probably damaging Het
Nos1 G A 5: 118,074,635 (GRCm39) V1060M probably benign Het
Nsun5 C T 5: 135,400,385 (GRCm39) T142M probably damaging Het
Odc1 A G 12: 17,600,655 (GRCm39) E430G probably benign Het
Or8g36 C A 9: 39,422,105 (GRCm39) V304F probably benign Het
P2ry12 T C 3: 59,125,328 (GRCm39) I116V probably null Het
Patl1 T A 19: 11,897,695 (GRCm39) V94E probably damaging Het
Plin3 A T 17: 56,588,488 (GRCm39) Y255* probably null Het
Pou6f1 T C 15: 100,477,827 (GRCm39) T439A probably damaging Het
Prdm13 T C 4: 21,678,366 (GRCm39) K708R probably damaging Het
Prr14l A G 5: 32,986,748 (GRCm39) S916P possibly damaging Het
Rab34 T A 11: 78,082,028 (GRCm39) probably null Het
Rps7 A G 12: 28,685,593 (GRCm39) S21P possibly damaging Het
Scn9a A T 2: 66,314,240 (GRCm39) L1815Q probably damaging Het
Sesn3 A G 9: 14,232,459 (GRCm39) Y244C probably benign Het
Slc15a2 A G 16: 36,581,973 (GRCm39) F284L probably benign Het
Slc25a44 C T 3: 88,328,218 (GRCm39) G72D probably damaging Het
Slco6d1 A G 1: 98,427,588 (GRCm39) T640A probably benign Het
Sspo A T 6: 48,439,125 (GRCm39) E1591V possibly damaging Het
Tbata C A 10: 61,011,644 (GRCm39) T60K possibly damaging Het
Tbc1d2 T A 4: 46,637,692 (GRCm39) T185S possibly damaging Het
Tlcd4 T A 3: 121,028,708 (GRCm39) I60F possibly damaging Het
Tmem87a A G 2: 120,234,502 (GRCm39) S14P possibly damaging Het
Tnnt2 C A 1: 135,778,292 (GRCm39) probably null Het
Trex1 A G 9: 108,887,709 (GRCm39) V94A probably benign Het
Ubtfl1 A C 9: 18,320,592 (GRCm39) D40A possibly damaging Het
Zc3hav1 A T 6: 38,309,935 (GRCm39) Y296N probably benign Het
Zfp521 T A 18: 13,977,684 (GRCm39) N910Y probably damaging Het
Zfp53 A G 17: 21,728,975 (GRCm39) E336G possibly 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
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
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'- TAACCTCGTTTTGGAGCCAAGC -3'
(R):5'- ACGTGAATTCTCATCCCCAC -3'

Sequencing Primer
(F):5'- GCCAAGCCGTTGTACAAAGTTCTC -3'
(R):5'- TGGCCTCAGACTTAGAGATCC -3'
Posted On 2018-03-15