Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02711:Gldc'

304586

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gldc

Ensembl Gene

ENSMUSG00000024827

Gene Name

glycine decarboxylase

Synonyms

b2b2679Clo, D030049L12Rik, D19Wsu57e

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02711

Quality Score

Status

Chromosome

Chromosomal Location

30075847-30152829 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 30122546 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000025778 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025778]

AlphaFold

Q91W43

Predicted Effect

probably null
Transcript: ENSMUST00000025778

SMART Domains

Protein: ENSMUSP00000025778
Gene: ENSMUSG00000024827

Domain	Start	End	E-Value	Type
low complexity region	5	28	N/A	INTRINSIC
low complexity region	33	56	N/A	INTRINSIC
Pfam:GDC-P	70	493	1.1e-202	PFAM
low complexity region	504	515	N/A	INTRINSIC
Pfam:GDC-P	519	798	6.5e-8	PFAM
Pfam:Beta_elim_lyase	589	745	2e-10	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Degradation of glycine is brought about by the glycine cleavage system, which is composed of four mitochondrial protein components: P protein (a pyridoxal phosphate-dependent glycine decarboxylase), H protein (a lipoic acid-containing protein), T protein (a tetrahydrofolate-requiring enzyme), and L protein (a lipoamide dehydrogenase). The protein encoded by this gene is the P protein, which binds to glycine and enables the methylamine group from glycine to be transferred to the T protein. Defects in this gene are a cause of nonketotic hyperglycinemia (NKH).[provided by RefSeq, Jan 2010]
PHENOTYPE: Hypomorphic mutants show a developmental delay, hyperglycinemia, altered folate profiles, neural tube defects and postnatal lethality, while survivors show hydrocephaly and premature death. Homozygotes for an ENU allele show omphalocele and severe cardiovascular, craniofacial, renal and eye defects. [provided by MGI curators]

Allele List at MGI

All alleles(6) : Targeted, other(2) Gene trapped(4)

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	T	5: 8,773,245 (GRCm39)		probably null	Het
Adamts10	T	A	17: 33,757,246 (GRCm39)	M400K	probably damaging	Het
Adamts17	G	A	7: 66,701,788 (GRCm39)		probably benign	Het
Adh5	A	G	3: 138,160,434 (GRCm39)	K323E	probably damaging	Het
Angptl2	T	C	2: 33,118,255 (GRCm39)	W10R	probably benign	Het
Arhgap15	T	C	2: 44,006,674 (GRCm39)	F264L	possibly damaging	Het
Atp6v1g3	T	A	1: 138,211,419 (GRCm39)	L33Q	probably damaging	Het
Baz2b	A	T	2: 59,747,849 (GRCm39)		probably benign	Het
Capn11	A	G	17: 45,943,341 (GRCm39)	F611S	probably damaging	Het
Cep152	T	A	2: 125,405,862 (GRCm39)	T1557S	possibly damaging	Het
Cep76	A	T	18: 67,771,406 (GRCm39)	S75R	probably benign	Het
Cps1	A	G	1: 67,251,676 (GRCm39)		probably benign	Het
Dbf4	G	T	5: 8,458,235 (GRCm39)	A199E	probably benign	Het
Hspa14	G	A	2: 3,503,557 (GRCm39)	A117V	probably benign	Het
Igkv4-80	G	A	6: 68,993,801 (GRCm39)	P30L	probably damaging	Het
Itga2b	A	T	11: 102,356,551 (GRCm39)	W292R	possibly damaging	Het
Kansl1	A	T	11: 104,226,401 (GRCm39)	S982T	probably damaging	Het
Klhdc7b	A	T	15: 89,272,246 (GRCm39)	K1043*	probably null	Het
Kmt2a	A	T	9: 44,735,820 (GRCm39)		probably benign	Het
Krt86	T	C	15: 101,371,543 (GRCm39)	Y38H	probably damaging	Het
Lingo4	T	C	3: 94,310,700 (GRCm39)	I546T	probably benign	Het
Lrrk1	A	G	7: 65,980,515 (GRCm39)	S222P	probably damaging	Het
Lrrk2	T	C	15: 91,570,025 (GRCm39)	V178A	possibly damaging	Het
Maml2	T	C	9: 13,531,359 (GRCm39)	V191A	probably benign	Het
Msh3	T	C	13: 92,487,819 (GRCm39)	T133A	probably damaging	Het
Nck1	T	C	9: 100,390,673 (GRCm39)	D12G	probably damaging	Het
Nox4	T	C	7: 87,046,076 (GRCm39)	Y572H	probably damaging	Het
Nqo1	A	T	8: 108,119,563 (GRCm39)	L30Q	probably damaging	Het
Or5ak24	A	T	2: 85,261,083 (GRCm39)	V30E	probably damaging	Het
Oxr1	A	G	15: 41,517,067 (GRCm39)		probably benign	Het
Pcare	T	C	17: 72,056,377 (GRCm39)	D1100G	probably benign	Het
Pcdhb10	A	C	18: 37,545,779 (GRCm39)	D285A	possibly damaging	Het
Pclo	A	G	5: 14,572,322 (GRCm39)	N569S	unknown	Het
Ppfibp1	T	A	6: 146,927,736 (GRCm39)	Y794*	probably null	Het
Ripor3	T	G	2: 167,848,200 (GRCm39)		probably benign	Het
Rpe65	C	A	3: 159,328,514 (GRCm39)	H441N	possibly damaging	Het
St14	A	G	9: 31,001,196 (GRCm39)	V845A	probably benign	Het
Tmem116	T	A	5: 121,625,804 (GRCm39)		probably benign	Het
Tnfrsf11b	A	T	15: 54,119,532 (GRCm39)	D147E	probably benign	Het
Ttn	C	A	2: 76,560,466 (GRCm39)	G27566*	probably null	Het
Zscan18	G	T	7: 12,509,044 (GRCm39)		probably benign	Het

Other mutations in Gldc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:Gldc	APN	19	30,092,640 (GRCm39)	missense	probably damaging	1.00
IGL01016:Gldc	APN	19	30,110,893 (GRCm39)	missense	possibly damaging	0.93
IGL01112:Gldc	APN	19	30,135,913 (GRCm39)	critical splice donor site	probably null
IGL01510:Gldc	APN	19	30,091,121 (GRCm39)	critical splice donor site	probably null
IGL01516:Gldc	APN	19	30,076,432 (GRCm39)	missense	probably damaging	1.00
IGL01598:Gldc	APN	19	30,111,156 (GRCm39)	missense	probably damaging	1.00
IGL01646:Gldc	APN	19	30,078,165 (GRCm39)	missense	possibly damaging	0.61
IGL02024:Gldc	APN	19	30,078,227 (GRCm39)	missense	probably damaging	1.00
IGL02125:Gldc	APN	19	30,124,641 (GRCm39)	missense	probably benign	0.03
IGL02548:Gldc	APN	19	30,077,299 (GRCm39)	missense	probably benign
IGL02818:Gldc	APN	19	30,113,909 (GRCm39)	missense	probably damaging	0.99
IGL02982:Gldc	APN	19	30,122,545 (GRCm39)	critical splice donor site	probably null
IGL03165:Gldc	APN	19	30,076,393 (GRCm39)	missense	possibly damaging	0.61
jojoba	UTSW	19	30,110,912 (GRCm39)	missense	probably damaging	1.00
miserable	UTSW	19	30,128,936 (GRCm39)	missense	probably damaging	1.00
Urchin	UTSW	19	30,096,002 (GRCm39)	missense	probably damaging	0.98
I2289:Gldc	UTSW	19	30,124,576 (GRCm39)	nonsense	probably null
R0180:Gldc	UTSW	19	30,078,217 (GRCm39)	missense	possibly damaging	0.95
R0269:Gldc	UTSW	19	30,096,002 (GRCm39)	missense	probably damaging	0.98
R0277:Gldc	UTSW	19	30,093,851 (GRCm39)	missense	possibly damaging	0.84
R1085:Gldc	UTSW	19	30,128,828 (GRCm39)	missense	probably damaging	1.00
R1159:Gldc	UTSW	19	30,138,162 (GRCm39)	intron	probably benign
R1500:Gldc	UTSW	19	30,091,225 (GRCm39)	missense	possibly damaging	0.88
R1507:Gldc	UTSW	19	30,096,038 (GRCm39)	missense	probably damaging	1.00
R1592:Gldc	UTSW	19	30,138,077 (GRCm39)	intron	probably benign
R1593:Gldc	UTSW	19	30,091,150 (GRCm39)	missense	probably damaging	1.00
R1675:Gldc	UTSW	19	30,120,853 (GRCm39)	missense	probably damaging	1.00
R1869:Gldc	UTSW	19	30,116,732 (GRCm39)	missense	probably benign
R1965:Gldc	UTSW	19	30,114,513 (GRCm39)	nonsense	probably null
R2312:Gldc	UTSW	19	30,078,226 (GRCm39)	missense	probably damaging	0.98
R2425:Gldc	UTSW	19	30,109,190 (GRCm39)	missense	probably damaging	1.00
R3836:Gldc	UTSW	19	30,096,075 (GRCm39)	splice site	probably benign
R3837:Gldc	UTSW	19	30,096,075 (GRCm39)	splice site	probably benign
R3839:Gldc	UTSW	19	30,096,075 (GRCm39)	splice site	probably benign
R4191:Gldc	UTSW	19	30,123,058 (GRCm39)	missense	probably damaging	0.96
R4380:Gldc	UTSW	19	30,138,168 (GRCm39)	intron	probably benign
R4508:Gldc	UTSW	19	30,120,807 (GRCm39)	missense	probably damaging	1.00
R4570:Gldc	UTSW	19	30,151,839 (GRCm39)	missense	probably benign
R4655:Gldc	UTSW	19	30,138,102 (GRCm39)	intron	probably benign
R4842:Gldc	UTSW	19	30,111,132 (GRCm39)	missense	possibly damaging	0.94
R5070:Gldc	UTSW	19	30,095,998 (GRCm39)	missense	possibly damaging	0.84
R5085:Gldc	UTSW	19	30,128,936 (GRCm39)	missense	probably damaging	1.00
R5268:Gldc	UTSW	19	30,123,125 (GRCm39)	missense	probably damaging	0.96
R5368:Gldc	UTSW	19	30,135,921 (GRCm39)	missense	probably benign
R5718:Gldc	UTSW	19	30,088,172 (GRCm39)	nonsense	probably null
R5878:Gldc	UTSW	19	30,120,867 (GRCm39)	splice site	probably null
R6192:Gldc	UTSW	19	30,111,172 (GRCm39)	missense	probably damaging	0.98
R6453:Gldc	UTSW	19	30,093,917 (GRCm39)	missense	probably damaging	0.99
R6777:Gldc	UTSW	19	30,110,912 (GRCm39)	missense	probably damaging	1.00
R6865:Gldc	UTSW	19	30,111,162 (GRCm39)	missense	possibly damaging	0.92
R7332:Gldc	UTSW	19	30,093,926 (GRCm39)	missense	probably damaging	0.99
R7390:Gldc	UTSW	19	30,077,314 (GRCm39)	missense	possibly damaging	0.46
R7647:Gldc	UTSW	19	30,096,067 (GRCm39)	missense	probably damaging	0.96
R8081:Gldc	UTSW	19	30,135,987 (GRCm39)	frame shift	probably null
R8171:Gldc	UTSW	19	30,111,161 (GRCm39)	missense	probably benign	0.24
R8321:Gldc	UTSW	19	30,120,807 (GRCm39)	nonsense	probably null
R8374:Gldc	UTSW	19	30,114,594 (GRCm39)	missense	probably damaging	1.00
R8503:Gldc	UTSW	19	30,077,254 (GRCm39)	missense	probably benign	0.26
R8510:Gldc	UTSW	19	30,093,905 (GRCm39)	missense	probably damaging	1.00
R8785:Gldc	UTSW	19	30,092,634 (GRCm39)	missense	probably damaging	1.00
R8818:Gldc	UTSW	19	30,078,212 (GRCm39)	missense	probably benign	0.05
R8820:Gldc	UTSW	19	30,078,212 (GRCm39)	missense	probably benign	0.05
R8829:Gldc	UTSW	19	30,078,212 (GRCm39)	missense	probably benign	0.05
R8830:Gldc	UTSW	19	30,078,212 (GRCm39)	missense	probably benign	0.05
R8859:Gldc	UTSW	19	30,116,779 (GRCm39)	missense	probably damaging	1.00
R8887:Gldc	UTSW	19	30,111,156 (GRCm39)	missense	possibly damaging	0.94
R8935:Gldc	UTSW	19	30,109,093 (GRCm39)	missense	probably benign	0.00
R8940:Gldc	UTSW	19	30,128,884 (GRCm39)	missense	probably benign
R9070:Gldc	UTSW	19	30,080,404 (GRCm39)	missense	probably damaging	1.00
R9100:Gldc	UTSW	19	30,077,314 (GRCm39)	missense	possibly damaging	0.81
R9144:Gldc	UTSW	19	30,114,593 (GRCm39)	missense
R9163:Gldc	UTSW	19	30,111,686 (GRCm39)	missense	probably benign	0.13
R9429:Gldc	UTSW	19	30,091,172 (GRCm39)	missense	possibly damaging	0.88
Z1177:Gldc	UTSW	19	30,123,148 (GRCm39)	missense	possibly damaging	0.61
Z1177:Gldc	UTSW	19	30,088,179 (GRCm39)	missense	probably damaging	0.99
Z1177:Gldc	UTSW	19	30,088,178 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16