Incidental Mutation 'IGL02026:Hlcs'
ID 184184
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hlcs
Ensembl Gene ENSMUSG00000040820
Gene Name holocarboxylase synthetase (biotin- [propriony-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)
Synonyms D16Jhu34, 410I21.SP6
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02026
Quality Score
Status
Chromosome 16
Chromosomal Location 93929741-94114430 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 93935564 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 576 (I576N)
Ref Sequence ENSEMBL: ENSMUSP00000130981 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099512] [ENSMUST00000163193] [ENSMUST00000227141] [ENSMUST00000227698] [ENSMUST00000228910]
AlphaFold Q920N2
Predicted Effect probably damaging
Transcript: ENSMUST00000099512
AA Change: I576N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000097112
Gene: ENSMUSG00000040820
AA Change: I576N

DomainStartEndE-ValueType
low complexity region 38 55 N/A INTRINSIC
low complexity region 377 391 N/A INTRINSIC
Pfam:BPL_LplA_LipB 467 599 1.9e-21 PFAM
Pfam:BPL_C 665 714 3.7e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000163193
AA Change: I576N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000130981
Gene: ENSMUSG00000040820
AA Change: I576N

DomainStartEndE-ValueType
low complexity region 38 55 N/A INTRINSIC
low complexity region 377 391 N/A INTRINSIC
Pfam:BPL_LplA_LipB 467 599 3.6e-30 PFAM
Pfam:BPL_C 665 714 4.9e-13 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000227141
AA Change: I723N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227447
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227618
Predicted Effect possibly damaging
Transcript: ENSMUST00000227698
AA Change: I95N

PolyPhen 2 Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000228910
AA Change: I181N

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that catalyzes the binding of biotin to carboxylases and histones. The protein plays an important role in gluconeogenesis, fatty acid synthesis and branched chain amino acid catabolism. Defects in this gene are the cause of holocarboxylase synthetase deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jun 2011]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 A T 14: 68,809,251 (GRCm39) V237E possibly damaging Het
Amh T C 10: 80,641,242 (GRCm39) L54P probably damaging Het
Aoc3 T C 11: 101,228,421 (GRCm39) S743P probably benign Het
Arhgap23 T A 11: 97,342,407 (GRCm39) W19R probably damaging Het
Atm C T 9: 53,353,717 (GRCm39) probably null Het
Ccdc47 T C 11: 106,095,853 (GRCm39) E281G probably damaging Het
Col7a1 A C 9: 108,797,097 (GRCm39) K1650N probably damaging Het
Cstdc5 C A 16: 36,187,848 (GRCm39) V6F possibly damaging Het
Evi2b T C 11: 79,406,613 (GRCm39) S321G probably damaging Het
Fancm T G 12: 65,152,508 (GRCm39) V988G probably benign Het
Gbp2 A G 3: 142,339,241 (GRCm39) Y431C probably damaging Het
Gclc T C 9: 77,699,342 (GRCm39) V530A probably benign Het
Gm5885 T C 6: 133,508,291 (GRCm39) noncoding transcript Het
Hnrnpul1 A T 7: 25,444,587 (GRCm39) F240L probably damaging Het
Itgb6 C A 2: 60,458,410 (GRCm39) V448F possibly damaging Het
Lama1 A G 17: 68,116,287 (GRCm39) T2385A possibly damaging Het
Lamc2 C T 1: 153,020,482 (GRCm39) probably benign Het
Lrrc32 C T 7: 98,148,767 (GRCm39) R516C probably benign Het
Lrrtm3 T C 10: 63,924,231 (GRCm39) N312S probably damaging Het
Ltbp4 G A 7: 27,026,842 (GRCm39) R468* probably null Het
Man1a T C 10: 53,890,569 (GRCm39) E373G probably damaging Het
Myo1h A T 5: 114,461,505 (GRCm39) Q250L probably null Het
Myo9a T C 9: 59,813,245 (GRCm39) V2077A probably damaging Het
Or14j3 A G 17: 37,900,298 (GRCm39) probably benign Het
Otud5 C T X: 7,738,232 (GRCm39) probably benign Het
Pcsk1 A G 13: 75,260,772 (GRCm39) S332G probably benign Het
Pde8b A G 13: 95,170,869 (GRCm39) V549A probably damaging Het
Pgap1 A T 1: 54,533,978 (GRCm39) M645K probably benign Het
Pm20d1 A T 1: 131,729,497 (GRCm39) R175* probably null Het
Polr2b A G 5: 77,480,099 (GRCm39) N585S probably benign Het
Recql T A 6: 142,312,394 (GRCm39) K41* probably null Het
Sccpdh A T 1: 179,505,634 (GRCm39) H138L possibly damaging Het
Sec31a A T 5: 100,517,485 (GRCm39) S951T probably benign Het
Slc44a4 A T 17: 35,140,832 (GRCm39) probably benign Het
Tchhl1 G T 3: 93,377,862 (GRCm39) A189S probably damaging Het
Tdrd12 G A 7: 35,203,658 (GRCm39) probably benign Het
Tesl2 T G X: 23,824,233 (GRCm39) H314P probably damaging Het
Trbv12-1 A G 6: 41,090,928 (GRCm39) D100G probably damaging Het
Ttll13 T A 7: 79,910,127 (GRCm39) S757T probably benign Het
Vipas39 T A 12: 87,298,483 (GRCm39) probably benign Het
Vmn1r64 G A 7: 5,886,649 (GRCm39) P298L possibly damaging Het
Vmn1r81 A G 7: 11,994,432 (GRCm39) S59P probably damaging Het
Vsx1 A T 2: 150,530,447 (GRCm39) V145D probably benign Het
Wdfy4 T A 14: 32,815,257 (GRCm39) N1586I probably damaging Het
Zan T A 5: 137,403,726 (GRCm39) probably benign Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Zzef1 T A 11: 72,772,164 (GRCm39) M1707K probably benign Het
Other mutations in Hlcs
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01078:Hlcs APN 16 93,934,019 (GRCm39) missense probably damaging 0.99
IGL02341:Hlcs APN 16 94,031,969 (GRCm39) missense probably damaging 0.99
IGL03075:Hlcs APN 16 93,939,706 (GRCm39) missense probably damaging 1.00
PIT4515001:Hlcs UTSW 16 94,068,275 (GRCm39) missense probably benign 0.45
R0372:Hlcs UTSW 16 93,939,766 (GRCm39) missense possibly damaging 0.69
R0664:Hlcs UTSW 16 94,032,170 (GRCm39) missense probably damaging 1.00
R0731:Hlcs UTSW 16 93,932,711 (GRCm39) missense probably damaging 1.00
R1465:Hlcs UTSW 16 94,069,151 (GRCm39) missense probably damaging 0.99
R1465:Hlcs UTSW 16 94,069,151 (GRCm39) missense probably damaging 0.99
R1761:Hlcs UTSW 16 94,068,866 (GRCm39) missense probably benign 0.05
R2013:Hlcs UTSW 16 94,063,599 (GRCm39) missense probably benign 0.17
R2014:Hlcs UTSW 16 94,063,599 (GRCm39) missense probably benign 0.17
R2015:Hlcs UTSW 16 94,063,599 (GRCm39) missense probably benign 0.17
R2204:Hlcs UTSW 16 94,032,011 (GRCm39) missense probably benign 0.30
R2371:Hlcs UTSW 16 94,068,926 (GRCm39) missense probably damaging 0.98
R3816:Hlcs UTSW 16 93,933,947 (GRCm39) missense probably benign 0.11
R3822:Hlcs UTSW 16 94,068,840 (GRCm39) missense probably benign 0.04
R4422:Hlcs UTSW 16 93,939,819 (GRCm39) missense possibly damaging 0.56
R4657:Hlcs UTSW 16 94,063,557 (GRCm39) missense probably benign 0.00
R4783:Hlcs UTSW 16 94,069,398 (GRCm39) missense possibly damaging 0.82
R5347:Hlcs UTSW 16 94,068,383 (GRCm39) missense possibly damaging 0.93
R5808:Hlcs UTSW 16 94,063,491 (GRCm39) missense probably benign 0.00
R5940:Hlcs UTSW 16 93,935,571 (GRCm39) missense probably damaging 0.99
R6341:Hlcs UTSW 16 94,032,022 (GRCm39) missense probably damaging 1.00
R6943:Hlcs UTSW 16 93,942,261 (GRCm39) missense possibly damaging 0.75
R7053:Hlcs UTSW 16 94,068,874 (GRCm39) missense possibly damaging 0.91
R7157:Hlcs UTSW 16 94,069,023 (GRCm39) nonsense probably null
R7166:Hlcs UTSW 16 94,063,585 (GRCm39) missense possibly damaging 0.92
R7313:Hlcs UTSW 16 94,068,362 (GRCm39) missense probably damaging 1.00
R7427:Hlcs UTSW 16 94,068,758 (GRCm39) missense probably benign 0.00
R7428:Hlcs UTSW 16 94,068,758 (GRCm39) missense probably benign 0.00
R7547:Hlcs UTSW 16 94,032,031 (GRCm39) nonsense probably null
R7548:Hlcs UTSW 16 93,933,876 (GRCm39) nonsense probably null
R8172:Hlcs UTSW 16 94,068,485 (GRCm39) missense probably damaging 1.00
R8241:Hlcs UTSW 16 94,068,677 (GRCm39) missense probably damaging 1.00
R8500:Hlcs UTSW 16 94,063,617 (GRCm39) missense possibly damaging 0.89
R8940:Hlcs UTSW 16 94,032,085 (GRCm39) missense probably benign
R9274:Hlcs UTSW 16 94,088,785 (GRCm39) missense possibly damaging 0.85
R9360:Hlcs UTSW 16 93,932,672 (GRCm39) missense probably damaging 1.00
R9361:Hlcs UTSW 16 93,939,799 (GRCm39) missense probably benign 0.10
R9564:Hlcs UTSW 16 93,935,580 (GRCm39) missense probably benign 0.01
X0065:Hlcs UTSW 16 93,934,032 (GRCm39) missense probably damaging 1.00
Z1176:Hlcs UTSW 16 94,063,518 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07