Incidental Mutation 'R8241:Hlcs'
ID 637575
Institutional Source Beutler Lab
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 # R8241 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 93929741-94114430 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 94068677 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 181 (V181E)
Ref Sequence ENSEMBL: ENSMUSP00000097112 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099512] [ENSMUST00000163193]
AlphaFold Q920N2
Predicted Effect probably damaging
Transcript: ENSMUST00000099512
AA Change: V181E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097112
Gene: ENSMUSG00000040820
AA Change: V181E

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: V181E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000130981
Gene: ENSMUSG00000040820
AA Change: V181E

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
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.1%
  • 20x: 98.1%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,079,456 (GRCm39) R1233G probably null Het
Acacb A T 5: 114,333,297 (GRCm39) I474F possibly damaging Het
Adora1 A T 1: 134,131,062 (GRCm39) V203D probably damaging Het
Aff4 A G 11: 53,290,998 (GRCm39) S653G probably benign Het
Agtr1a T C 13: 30,565,082 (GRCm39) V49A probably damaging Het
Ahnak T C 19: 8,984,659 (GRCm39) V1981A probably benign Het
Arhgap5 T G 12: 52,565,098 (GRCm39) Y690D probably benign Het
Bbs9 A G 9: 22,590,214 (GRCm39) I651V probably benign Het
Brms1 C T 19: 5,096,007 (GRCm39) A27V probably benign Het
Camta1 A G 4: 151,168,282 (GRCm39) V256A probably benign Het
Capg G T 6: 72,533,236 (GRCm39) probably null Het
Chpt1 T C 10: 88,288,953 (GRCm39) K154E Het
Cyp1b1 T C 17: 80,021,223 (GRCm39) E173G probably damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fbxw27 T G 9: 109,602,283 (GRCm39) N230T possibly damaging Het
Fer1l4 T C 2: 155,891,585 (GRCm39) T126A probably benign Het
Fut10 C A 8: 31,750,034 (GRCm39) S440* probably null Het
Gbf1 T C 19: 46,234,576 (GRCm39) V71A probably damaging Het
Gpatch8 T C 11: 102,378,347 (GRCm39) E201G unknown Het
Hic2 A G 16: 17,076,950 (GRCm39) Y593C probably damaging Het
Itpr2 A T 6: 146,320,013 (GRCm39) I176N possibly damaging Het
Kcna2 G T 3: 107,012,338 (GRCm39) K306N probably damaging Het
Kcnb1 A G 2: 166,948,117 (GRCm39) Y244H probably damaging Het
Klhl8 C T 5: 104,015,392 (GRCm39) V511I probably damaging Het
Mapk14 T A 17: 28,934,374 (GRCm39) D88E possibly damaging Het
Marchf10 C A 11: 105,280,741 (GRCm39) A515S probably benign Het
Mrpl1 T A 5: 96,386,733 (GRCm39) L241I probably damaging Het
Mybpc1 A T 10: 88,372,286 (GRCm39) N781K probably benign Het
Nfkb2 T A 19: 46,296,054 (GRCm39) D186E probably benign Het
Or3a1b G A 11: 74,013,035 (GRCm39) V307I probably benign Het
Plcl1 A G 1: 55,734,976 (GRCm39) I106V probably benign Het
Ppp4r2 A G 6: 100,842,044 (GRCm39) I168M probably damaging Het
Prpf4b A T 13: 35,079,974 (GRCm39) K779N probably damaging Het
Qrich1 T C 9: 108,433,760 (GRCm39) probably null Het
Rgs12 T C 5: 35,123,117 (GRCm39) F300S probably damaging Het
Sart3 T A 5: 113,884,029 (GRCm39) K661M probably benign Het
Scyl2 T C 10: 89,489,971 (GRCm39) I464V possibly damaging Het
Sema5a A G 15: 32,575,064 (GRCm39) T391A probably benign Het
Sh3bgr A G 16: 96,025,070 (GRCm39) T183A unknown Het
Sh3rf3 C T 10: 58,940,242 (GRCm39) P688S probably benign Het
Themis3 T C 17: 66,866,962 (GRCm39) T93A probably benign Het
Thsd7b T A 1: 130,117,688 (GRCm39) S1402T probably damaging Het
Ubr1 A T 2: 120,793,937 (GRCm39) D82E possibly damaging Het
Vmn1r223 T C 13: 23,433,982 (GRCm39) F192S probably benign Het
Vmn2r98 A G 17: 19,301,031 (GRCm39) K678E probably damaging Het
Vps13d G T 4: 144,875,047 (GRCm39) T1826N Het
Vps41 A G 13: 19,033,168 (GRCm39) D633G possibly damaging Het
Wdr3 A T 3: 100,057,259 (GRCm39) I448N probably damaging Het
Other mutations in Hlcs
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01078:Hlcs APN 16 93,934,019 (GRCm39) missense probably damaging 0.99
IGL02026:Hlcs APN 16 93,935,564 (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
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
Predicted Primers PCR Primer
(F):5'- TTCCCTCCCTGAGAAAGATAGG -3'
(R):5'- AGTGTCTGGAGCTCGAGAAC -3'

Sequencing Primer
(F):5'- CTCCCTGAGAAAGATAGGCCATG -3'
(R):5'- ACAGTACCATTGACTCGGTG -3'
Posted On 2020-07-13