Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01646:Gldc'

102680

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 #

IGL01646

Quality Score

Status

Chromosome

Chromosomal Location

30075847-30152829 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 30078165 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 944 (D944A)

Ref Sequence

ENSEMBL: ENSMUSP00000025778 (fasta)

Gene Model

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

AlphaFold

Q91W43

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025778
AA Change: D944A

PolyPhen 2 Score 0.609 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000025778
Gene: ENSMUSG00000024827
AA Change: D944A

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ambp	C	T	4: 63,066,977 (GRCm39)	V188I	probably benign	Het
Bbs9	G	T	9: 22,582,221 (GRCm39)	E638*	probably null	Het
Bmp6	A	G	13: 38,682,904 (GRCm39)	M465V	probably damaging	Het
Ccdc192	T	A	18: 57,800,417 (GRCm39)	C171*	probably null	Het
Cemip	T	C	7: 83,632,440 (GRCm39)	E374G	possibly damaging	Het
Cnbd1	A	T	4: 18,895,141 (GRCm39)	Y200*	probably null	Het
Cox6b1	G	T	7: 30,323,929 (GRCm39)	Y34*	probably null	Het
Cyp2d26	A	C	15: 82,675,619 (GRCm39)	I303M	probably benign	Het
Diaph1	T	A	18: 38,026,469 (GRCm39)		probably null	Het
Dmp1	T	C	5: 104,359,731 (GRCm39)	S136P	probably damaging	Het
Dpy19l1	C	T	9: 24,396,365 (GRCm39)	R117Q	probably damaging	Het
Eea1	A	G	10: 95,832,877 (GRCm39)	T241A	probably damaging	Het
Erap1	C	A	13: 74,814,291 (GRCm39)	T25K	probably damaging	Het
Fras1	A	G	5: 96,906,007 (GRCm39)	E3137G	probably benign	Het
Fryl	C	T	5: 73,179,844 (GRCm39)		probably null	Het
Grm5	A	G	7: 87,689,267 (GRCm39)	Y546C	probably damaging	Het
Igkv1-122	G	A	6: 67,993,728 (GRCm39)	M1I	probably null	Het
Jag2	G	A	12: 112,879,969 (GRCm39)	P380S	possibly damaging	Het
Kcnc2	T	C	10: 112,108,311 (GRCm39)		probably null	Het
Kmt2a	T	C	9: 44,736,781 (GRCm39)		probably benign	Het
Lrrc55	A	G	2: 85,022,333 (GRCm39)	V286A	probably damaging	Het
Mllt10	C	A	2: 18,127,128 (GRCm39)	H82N	probably damaging	Het
Myh11	C	A	16: 14,039,639 (GRCm39)	R837L	probably damaging	Het
Nsg1	C	A	5: 38,313,035 (GRCm39)	D55Y	probably damaging	Het
Nup107	C	A	10: 117,617,247 (GRCm39)	R221M	probably damaging	Het
Nup153	G	T	13: 46,837,583 (GRCm39)	A1213D	possibly damaging	Het
Ovgp1	G	A	3: 105,885,665 (GRCm39)	G174S	probably damaging	Het
Papss2	C	T	19: 32,629,482 (GRCm39)	A357V	probably benign	Het
Pclo	A	G	5: 14,763,881 (GRCm39)	K4118R	unknown	Het
Pde2a	T	C	7: 101,156,918 (GRCm39)	I628T	possibly damaging	Het
Pla2r1	A	G	2: 60,325,708 (GRCm39)	W521R	probably damaging	Het
Pld1	A	T	3: 28,153,813 (GRCm39)	Q744L	probably damaging	Het
Pnpo	T	A	11: 96,829,775 (GRCm39)	E251V	possibly damaging	Het
Rdh10	C	T	1: 16,178,246 (GRCm39)	H173Y	possibly damaging	Het
Sgpp2	A	T	1: 78,393,533 (GRCm39)	I179F	probably damaging	Het
Slc11a1	C	T	1: 74,423,899 (GRCm39)	P409L	probably damaging	Het
Slc35b4	T	A	6: 34,135,364 (GRCm39)	N316I	probably benign	Het
Snrnp200	A	G	2: 127,064,148 (GRCm39)	I712V	probably benign	Het
Spr	T	C	6: 85,111,222 (GRCm39)	D216G	possibly damaging	Het
Sri	G	A	5: 8,113,755 (GRCm39)		probably null	Het
Tas2r124	T	C	6: 132,732,332 (GRCm39)	S214P	probably damaging	Het
Tg	T	A	15: 66,549,936 (GRCm39)	S233T	probably damaging	Het
Tgfbr3	A	T	5: 107,269,279 (GRCm39)		probably benign	Het
Vmn2r45	A	G	7: 8,486,337 (GRCm39)	F317S	probably benign	Het
Vmn2r99	C	A	17: 19,613,920 (GRCm39)		probably benign	Het
Zfp957	T	C	14: 79,451,331 (GRCm39)	E156G	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
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

2014-01-21