Incidental Mutation 'R2183:Gcsh'
ID 237297
Institutional Source Beutler Lab
Gene Symbol Gcsh
Ensembl Gene ENSMUSG00000034424
Gene Name glycine cleavage system protein H (aminomethyl carrier)
Synonyms 5730591C18Rik, 1100001L02Rik
MMRRC Submission 040185-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.755) question?
Stock # R2183 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 117708706-117720237 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 117715885 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 66 (V66E)
Ref Sequence ENSEMBL: ENSMUSP00000037131 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040484]
AlphaFold Q91WK5
PDB Structure Solution structure of the GCV_H domain from mouse glycine [SOLUTION NMR]
Predicted Effect probably damaging
Transcript: ENSMUST00000040484
AA Change: V66E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000037131
Gene: ENSMUSG00000034424
AA Change: V66E

DomainStartEndE-ValueType
Pfam:GCV_H 48 168 1.2e-51 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162548
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.3%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atf7 T C 15: 102,454,908 (GRCm39) T287A possibly damaging Het
Atg9b C T 5: 24,595,491 (GRCm39) A263T probably benign Het
Cc2d1a A T 8: 84,867,028 (GRCm39) H371Q probably damaging Het
Ccdc39 T C 3: 33,875,581 (GRCm39) N537S possibly damaging Het
Cdc6 A T 11: 98,799,524 (GRCm39) K17* probably null Het
Cemip2 G A 19: 21,801,157 (GRCm39) R758Q possibly damaging Het
Cenpk T C 13: 104,370,671 (GRCm39) M64T probably damaging Het
Dhx57 T A 17: 80,582,760 (GRCm39) T282S probably benign Het
Frem1 G A 4: 82,909,732 (GRCm39) T757I probably benign Het
Gdpd1 T C 11: 86,926,102 (GRCm39) N281S probably damaging Het
Hs1bp3 T C 12: 8,371,610 (GRCm39) V97A possibly damaging Het
Ipo11 T C 13: 107,061,595 (GRCm39) T22A probably benign Het
Irag1 A T 7: 110,498,189 (GRCm39) L402Q probably damaging Het
Lama1 A G 17: 68,098,004 (GRCm39) N1795D probably damaging Het
Larp4 T C 15: 99,909,778 (GRCm39) V627A probably benign Het
Lrp8 T C 4: 107,660,462 (GRCm39) C41R probably damaging Het
Mroh2b T A 15: 4,947,707 (GRCm39) probably null Het
Nebl T C 2: 17,409,027 (GRCm39) D357G probably damaging Het
Nrg2 T C 18: 36,329,804 (GRCm39) K137R probably benign Het
Or14c43 T A 7: 86,115,594 (GRCm39) V325E probably benign Het
Or1j14 C T 2: 36,417,723 (GRCm39) Q100* probably null Het
Or5t7 A T 2: 86,507,380 (GRCm39) M99K probably benign Het
Phc1 C A 6: 122,300,284 (GRCm39) V487L probably damaging Het
Piezo2 A G 18: 63,239,345 (GRCm39) V745A probably damaging Het
Proca1 A T 11: 78,094,975 (GRCm39) H83L possibly damaging Het
Prpf4 G A 4: 62,330,046 (GRCm39) V107I probably damaging Het
Ptprz1 G A 6: 23,002,284 (GRCm39) R1458Q probably benign Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Rbsn C A 6: 92,166,618 (GRCm39) L675F probably benign Het
Recql5 T C 11: 115,787,613 (GRCm39) S514G probably benign Het
Scai G A 2: 38,970,138 (GRCm39) T542I probably benign Het
Sftpa1 G T 14: 40,854,823 (GRCm39) D73Y probably damaging Het
Sgms2 A C 3: 131,129,934 (GRCm39) probably null Het
Spart A G 3: 55,024,554 (GRCm39) I50V probably benign Het
Spata7 A T 12: 98,603,871 (GRCm39) K47N probably damaging Het
Tbx18 T A 9: 87,587,789 (GRCm39) T443S probably damaging Het
Tmem130 T C 5: 144,692,242 (GRCm39) D54G possibly damaging Het
Tnip2 TCTCCT TCT 5: 34,656,957 (GRCm39) probably benign Het
Trp53rkb G T 2: 166,635,877 (GRCm39) V73L possibly damaging Het
Wwc2 A T 8: 48,295,961 (GRCm39) L1103H unknown Het
Yes1 T A 5: 32,802,370 (GRCm39) V95E probably damaging Het
Zfp971 T A 2: 177,675,533 (GRCm39) H377Q probably damaging Het
Zzef1 C T 11: 72,777,544 (GRCm39) R1792* probably null Het
Other mutations in Gcsh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01153:Gcsh APN 8 117,710,549 (GRCm39) missense probably benign 0.12
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
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
Predicted Primers PCR Primer
(F):5'- ATACACTGGCCCTAACTAATGTAC -3'
(R):5'- TACATTGTTATTCTGCTGGGCATC -3'

Sequencing Primer
(F):5'- GGCCCTAACTAATGTACATTTGACC -3'
(R):5'- ATTCTGCTGGGCATCAAACTAC -3'
Posted On 2014-10-02