Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01510:Gldc'

89198

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 #

IGL01510

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 30091121 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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	T	C	4: 53,143,979 (GRCm39)	Q6R	probably damaging	Het
Adam5	A	T	8: 25,294,481 (GRCm39)	C373S	probably damaging	Het
Adgre4	T	C	17: 56,125,760 (GRCm39)		probably null	Het
Akap10	A	T	11: 61,768,846 (GRCm39)	M614K	possibly damaging	Het
Amigo2	T	C	15: 97,142,962 (GRCm39)	T487A	probably benign	Het
Asap1	T	C	15: 64,030,777 (GRCm39)	D300G	probably damaging	Het
Atp4a	C	A	7: 30,420,216 (GRCm39)	L788M	probably benign	Het
Bcl3	T	A	7: 19,543,539 (GRCm39)	H309L	probably damaging	Het
Cblc	T	C	7: 19,519,200 (GRCm39)	N376S	probably benign	Het
Cd200r2	A	T	16: 44,729,674 (GRCm39)	I110L	probably benign	Het
Ceacam3	T	C	7: 16,893,767 (GRCm39)	M426T	probably benign	Het
Cep295	G	A	9: 15,265,922 (GRCm39)	R29*	probably null	Het
Ces1a	G	T	8: 93,771,726 (GRCm39)	P24T	probably damaging	Het
Ctps1	G	T	4: 120,416,041 (GRCm39)	T194K	probably damaging	Het
Cul3	A	G	1: 80,260,396 (GRCm39)	S318P	probably damaging	Het
Fasl	A	T	1: 161,609,522 (GRCm39)	S155T	possibly damaging	Het
Gpr21	T	A	2: 37,408,433 (GRCm39)	C326*	probably null	Het
Gtf2a1	A	G	12: 91,534,607 (GRCm39)	S216P	probably benign	Het
Hoxb5	A	T	11: 96,194,818 (GRCm39)	S127C	possibly damaging	Het
Htt	A	T	5: 35,064,856 (GRCm39)	Q3023L	probably damaging	Het
Kalrn	T	A	16: 34,055,700 (GRCm39)	H855L	possibly damaging	Het
Lars1	T	C	18: 42,375,174 (GRCm39)	I289V	probably benign	Het
Lrig3	C	A	10: 125,844,567 (GRCm39)	T677K	probably damaging	Het
Mapk7	A	T	11: 61,381,986 (GRCm39)	W309R	probably damaging	Het
Mmp12	A	G	9: 7,358,307 (GRCm39)	T468A	possibly damaging	Het
Muc5b	A	T	7: 141,412,798 (GRCm39)	N1915Y	unknown	Het
Naprt	A	G	15: 75,762,837 (GRCm39)		probably benign	Het
Nfatc1	T	C	18: 80,741,403 (GRCm39)	Y199C	probably damaging	Het
Or7e166	A	T	9: 19,624,575 (GRCm39)	I151F	probably benign	Het
Or8g51	T	C	9: 38,609,201 (GRCm39)	I158V	probably benign	Het
Phip	T	A	9: 82,795,924 (GRCm39)	I566F	probably benign	Het
Pnpla3	T	A	15: 84,055,273 (GRCm39)		probably benign	Het
Ptpn13	C	T	5: 103,710,166 (GRCm39)	T1567I	probably damaging	Het
Ptpn20	A	G	14: 33,360,343 (GRCm39)		probably null	Het
Ptprq	G	T	10: 107,547,909 (GRCm39)	T163K	probably damaging	Het
Slc8a1	A	G	17: 81,955,794 (GRCm39)	C415R	probably damaging	Het
Slco4c1	A	G	1: 96,795,678 (GRCm39)	S127P	probably damaging	Het
Tcerg1l	A	T	7: 137,996,034 (GRCm39)		probably benign	Het
Thbd	C	T	2: 148,248,894 (GRCm39)	V325M	probably damaging	Het
Trim37	G	A	11: 87,068,686 (GRCm39)	R344H	probably damaging	Het
Ttn	T	C	2: 76,703,109 (GRCm39)		probably benign	Het
Uvrag	G	A	7: 98,653,796 (GRCm39)	Q65*	probably null	Het
Wrap53	G	A	11: 69,453,566 (GRCm39)	S342L	possibly damaging	Het
Zbtb11	T	G	16: 55,810,706 (GRCm39)	V288G	probably damaging	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
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
IGL02711:Gldc	APN	19	30,122,546 (GRCm39)	critical splice donor site	probably null
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

2013-12-03