Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02026:Hlcs'

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02026

Quality Score

Status

Chromosome

Chromosomal Location

94128882-94313571 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 94134705 bp (GRCm38)

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	A	T	14: 68,571,802	V237E	possibly damaging	Het
Amh	T	C	10: 80,805,408	L54P	probably damaging	Het
Aoc3	T	C	11: 101,337,595	S743P	probably benign	Het
Arhgap23	T	A	11: 97,451,581	W19R	probably damaging	Het
Atm	C	T	9: 53,442,417		probably null	Het
BC100530	C	A	16: 36,367,486	V6F	possibly damaging	Het
Ccdc47	T	C	11: 106,205,027	E281G	probably damaging	Het
Col7a1	A	C	9: 108,968,029	K1650N	probably damaging	Het
Evi2b	T	C	11: 79,515,787	S321G	probably damaging	Het
Fancm	T	G	12: 65,105,734	V988G	probably benign	Het
Gbp2	A	G	3: 142,633,480	Y431C	probably damaging	Het
Gclc	T	C	9: 77,792,060	V530A	probably benign	Het
Gm4985	T	G	X: 23,957,994	H314P	probably damaging	Het
Gm5885	T	C	6: 133,531,328		noncoding transcript	Het
Hnrnpul1	A	T	7: 25,745,162	F240L	probably damaging	Het
Itgb6	C	A	2: 60,628,066	V448F	possibly damaging	Het
Lama1	A	G	17: 67,809,292	T2385A	possibly damaging	Het
Lamc2	C	T	1: 153,144,736		probably benign	Het
Lrrc32	C	T	7: 98,499,560	R516C	probably benign	Het
Lrrtm3	T	C	10: 64,088,452	N312S	probably damaging	Het
Ltbp4	G	A	7: 27,327,417	R468*	probably null	Het
Man1a	T	C	10: 54,014,473	E373G	probably damaging	Het
Myo1h	A	T	5: 114,323,444	Q250L	probably null	Het
Myo9a	T	C	9: 59,905,962	V2077A	probably damaging	Het
Olfr114	A	G	17: 37,589,407		probably benign	Het
Otud5	C	T	X: 7,871,993		probably benign	Het
Pcsk1	A	G	13: 75,112,653	S332G	probably benign	Het
Pde8b	A	G	13: 95,034,361	V549A	probably damaging	Het
Pgap1	A	T	1: 54,494,819	M645K	probably benign	Het
Pm20d1	A	T	1: 131,801,759	R175*	probably null	Het
Polr2b	A	G	5: 77,332,252	N585S	probably benign	Het
Recql	T	A	6: 142,366,668	K41*	probably null	Het
Sccpdh	A	T	1: 179,678,069	H138L	possibly damaging	Het
Sec31a	A	T	5: 100,369,626	S951T	probably benign	Het
Slc44a4	A	T	17: 34,921,856		probably benign	Het
Tchhl1	G	T	3: 93,470,555	A189S	probably damaging	Het
Tdrd12	G	A	7: 35,504,233		probably benign	Het
Trbv12-1	A	G	6: 41,113,994	D100G	probably damaging	Het
Ttll13	T	A	7: 80,260,379	S757T	probably benign	Het
Vipas39	T	A	12: 87,251,709		probably benign	Het
Vmn1r64	G	A	7: 5,883,650	P298L	possibly damaging	Het
Vmn1r81	A	G	7: 12,260,505	S59P	probably damaging	Het
Vsx1	A	T	2: 150,688,527	V145D	probably benign	Het
Wdfy4	T	A	14: 33,093,300	N1586I	probably damaging	Het
Zan	T	A	5: 137,405,464		probably benign	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	Het
Zzef1	T	A	11: 72,881,338	M1707K	probably benign	Het

Other mutations in Hlcs

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01078:Hlcs	APN	16	94133160	missense	probably damaging	0.99
IGL02341:Hlcs	APN	16	94231110	missense	probably damaging	0.99
IGL03075:Hlcs	APN	16	94138847	missense	probably damaging	1.00
PIT4515001:Hlcs	UTSW	16	94267416	missense	probably benign	0.45
R0372:Hlcs	UTSW	16	94138907	missense	possibly damaging	0.69
R0664:Hlcs	UTSW	16	94231311	missense	probably damaging	1.00
R0731:Hlcs	UTSW	16	94131852	missense	probably damaging	1.00
R1465:Hlcs	UTSW	16	94268292	missense	probably damaging	0.99
R1465:Hlcs	UTSW	16	94268292	missense	probably damaging	0.99
R1761:Hlcs	UTSW	16	94268007	missense	probably benign	0.05
R2013:Hlcs	UTSW	16	94262740	missense	probably benign	0.17
R2014:Hlcs	UTSW	16	94262740	missense	probably benign	0.17
R2015:Hlcs	UTSW	16	94262740	missense	probably benign	0.17
R2204:Hlcs	UTSW	16	94231152	missense	probably benign	0.30
R2371:Hlcs	UTSW	16	94268067	missense	probably damaging	0.98
R3816:Hlcs	UTSW	16	94133088	missense	probably benign	0.11
R3822:Hlcs	UTSW	16	94267981	missense	probably benign	0.04
R4422:Hlcs	UTSW	16	94138960	missense	possibly damaging	0.56
R4657:Hlcs	UTSW	16	94262698	missense	probably benign	0.00
R4783:Hlcs	UTSW	16	94268539	missense	possibly damaging	0.82
R5347:Hlcs	UTSW	16	94267524	missense	possibly damaging	0.93
R5808:Hlcs	UTSW	16	94262632	missense	probably benign	0.00
R5940:Hlcs	UTSW	16	94134712	missense	probably damaging	0.99
R6341:Hlcs	UTSW	16	94231163	missense	probably damaging	1.00
R6943:Hlcs	UTSW	16	94141402	missense	possibly damaging	0.75
R7053:Hlcs	UTSW	16	94268015	missense	possibly damaging	0.91
R7157:Hlcs	UTSW	16	94268164	nonsense	probably null
R7166:Hlcs	UTSW	16	94262726	missense	possibly damaging	0.92
R7313:Hlcs	UTSW	16	94267503	missense	probably damaging	1.00
R7427:Hlcs	UTSW	16	94267899	missense	probably benign	0.00
R7428:Hlcs	UTSW	16	94267899	missense	probably benign	0.00
R7547:Hlcs	UTSW	16	94231172	nonsense	probably null
R7548:Hlcs	UTSW	16	94133017	nonsense	probably null
R8172:Hlcs	UTSW	16	94267626	missense	probably damaging	1.00
R8241:Hlcs	UTSW	16	94267818	missense	probably damaging	1.00
R8500:Hlcs	UTSW	16	94262758	missense	possibly damaging	0.89
R8940:Hlcs	UTSW	16	94231226	missense	probably benign
R9274:Hlcs	UTSW	16	94287926	missense	possibly damaging	0.85
R9360:Hlcs	UTSW	16	94131813	missense	probably damaging	1.00
R9361:Hlcs	UTSW	16	94138940	missense	probably benign	0.10
X0065:Hlcs	UTSW	16	94133173	missense	probably damaging	1.00
Z1176:Hlcs	UTSW	16	94262659	missense	probably damaging	1.00

Posted On

2014-05-07