Incidental Mutation 'IGL01153:Gcsh'
ID 51846
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gcsh
Ensembl Gene ENSMUSG00000034424
Gene Name glycine cleavage system protein H (aminomethyl carrier)
Synonyms 5730591C18Rik, 1100001L02Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.755) question?
Stock # IGL01153
Quality Score
Status
Chromosome 8
Chromosomal Location 117708706-117720237 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 117710549 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 138 (D138V)
Ref Sequence ENSEMBL: ENSMUSP00000037131 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040484] [ENSMUST00000070577] [ENSMUST00000213068]
AlphaFold Q91WK5
PDB Structure Solution structure of the GCV_H domain from mouse glycine [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000040484
AA Change: D138V

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000037131
Gene: ENSMUSG00000034424
AA Change: D138V

DomainStartEndE-ValueType
Pfam:GCV_H 48 168 1.2e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000070577
SMART Domains Protein: ENSMUSP00000070601
Gene: ENSMUSG00000031847

DomainStartEndE-ValueType
Pfam:DUF4529 1 409 7.5e-188 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162548
Predicted Effect probably benign
Transcript: ENSMUST00000213068
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 H protein, which transfers the methylamine group of glycine from the P protein to the T protein. Defects in this gene are a cause of nonketotic hyperglycinemia (NKH). Two transcript variants, one protein-coding and the other probably not protein-coding,have been found for this gene. Also, several transcribed and non-transcribed pseudogenes of this gene exist throughout the genome.[provided by RefSeq, Jan 2010]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T C 13: 81,567,247 (GRCm39) I5309V probably benign Het
Amy1 A G 3: 113,349,724 (GRCm39) V482A possibly damaging Het
Ankrd22 A T 19: 34,106,229 (GRCm39) V81E probably damaging Het
Ccr5 C A 9: 123,924,649 (GRCm39) T84K probably damaging Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Chchd3 A T 6: 32,985,502 (GRCm39) probably benign Het
Cpt1c C T 7: 44,616,092 (GRCm39) E307K probably damaging Het
Cyth2 T C 7: 45,457,813 (GRCm39) Y120C probably damaging Het
Dnajb11 T A 16: 22,681,430 (GRCm39) D69E probably benign Het
Ece2 T A 16: 20,451,544 (GRCm39) M215K possibly damaging Het
Enox2 C A X: 48,151,015 (GRCm39) probably null Het
Fam120c T C X: 150,182,801 (GRCm39) probably null Het
Fam149b A G 14: 20,427,949 (GRCm39) T319A possibly damaging Het
Fndc1 A T 17: 7,998,874 (GRCm39) probably null Het
Herc3 T A 6: 58,837,321 (GRCm39) H331Q probably benign Het
Iars1 A G 13: 49,865,281 (GRCm39) N586D probably damaging Het
Idh3g A G X: 72,823,668 (GRCm39) V280A probably damaging Het
Kctd18 A G 1: 58,004,550 (GRCm39) S115P probably damaging Het
Lims2 A G 18: 32,090,370 (GRCm39) probably null Het
Lyset T A 12: 102,711,135 (GRCm39) Y119* probably null Het
Mael T C 1: 166,029,919 (GRCm39) K334E possibly damaging Het
Me3 A C 7: 89,498,844 (GRCm39) T475P probably damaging Het
Mrpl18 A G 17: 13,134,693 (GRCm39) L24P possibly damaging Het
Nol4 C A 18: 22,902,850 (GRCm39) R460L probably damaging Het
Numa1 A T 7: 101,643,951 (GRCm39) E181V probably damaging Het
Or6c2 T A 10: 129,362,864 (GRCm39) I256N probably damaging Het
Pex2 A T 3: 5,626,424 (GRCm39) H128Q probably benign Het
Pex3 A T 10: 13,428,597 (GRCm39) probably null Het
Psmb8 A G 17: 34,420,215 (GRCm39) Y269C possibly damaging Het
Sh2d3c A G 2: 32,615,096 (GRCm39) K62R probably benign Het
Strn4 G A 7: 16,571,846 (GRCm39) G613D probably damaging Het
Taok2 A G 7: 126,470,204 (GRCm39) W875R probably damaging Het
Tbc1d4 T C 14: 101,845,451 (GRCm39) D149G possibly damaging Het
Zfp473 A G 7: 44,383,992 (GRCm39) S113P probably damaging Het
Zfp768 A G 7: 126,943,703 (GRCm39) Y145H possibly damaging Het
Zgrf1 G A 3: 127,396,055 (GRCm39) G534R probably damaging Het
Other mutations in Gcsh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01520:Gcsh APN 8 117,710,688 (GRCm39) unclassified probably benign
IGL02098:Gcsh APN 8 117,715,875 (GRCm39) missense probably damaging 0.99
R1533:Gcsh UTSW 8 117,715,921 (GRCm39) missense probably damaging 1.00
R2183:Gcsh UTSW 8 117,715,885 (GRCm39) missense probably damaging 1.00
R2196:Gcsh UTSW 8 117,715,909 (GRCm39) missense possibly damaging 0.51
R6354:Gcsh UTSW 8 117,710,582 (GRCm39) missense probably benign 0.01
R9610:Gcsh UTSW 8 117,720,125 (GRCm39) missense probably benign
R9611:Gcsh UTSW 8 117,720,125 (GRCm39) missense probably benign
X0003:Gcsh UTSW 8 117,709,427 (GRCm39) missense probably benign
Posted On 2013-06-21