Incidental Mutation 'IGL03059:Gatm'
ID 409387
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gatm
Ensembl Gene ENSMUSG00000027199
Gene Name glycine amidinotransferase (L-arginine:glycine amidinotransferase)
Synonyms 1810003P21Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03059
Quality Score
Status
Chromosome 2
Chromosomal Location 122424954-122441758 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 122440181 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 86 (A86V)
Ref Sequence ENSEMBL: ENSMUSP00000028624 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028624]
AlphaFold Q9D964
Predicted Effect probably damaging
Transcript: ENSMUST00000028624
AA Change: A86V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028624
Gene: ENSMUSG00000027199
AA Change: A86V

DomainStartEndE-ValueType
Pfam:Amidinotransf 254 414 3e-7 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial enzyme that belongs to the amidinotransferase family. This enzyme is involved in creatine biosynthesis, whereby it catalyzes the transfer of a guanido group from L-arginine to glycine, resulting in guanidinoacetic acid, the immediate precursor of creatine. Mutations in this gene cause arginine:glycine amidinotransferase deficiency, an inborn error of creatine synthesis characterized by mental retardation, language impairment, and behavioral disorders. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit resistance obesity, reduced adipocity and improved glucose homeostasis when fed a high fat diet. Mice homozygous for an ENU-induced allele exhibit increased susceptibility to DSS-induced colitis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahsg T C 16: 22,717,755 (GRCm39) V244A possibly damaging Het
Aoc1l3 A T 6: 48,964,349 (GRCm39) Y119F probably benign Het
Ccdc187 C A 2: 26,184,253 (GRCm39) R48M probably null Het
Cnga2 G A X: 71,051,878 (GRCm39) R251H probably damaging Het
Cop1 A C 1: 159,134,279 (GRCm39) K174Q probably damaging Het
Cul9 T C 17: 46,849,913 (GRCm39) D512G probably damaging Het
Flt4 G A 11: 49,533,134 (GRCm39) A1140T probably damaging Het
Galnt3 C T 2: 65,923,954 (GRCm39) R438H probably damaging Het
Klhl28 C T 12: 64,998,340 (GRCm39) A385T probably benign Het
Klhl40 T A 9: 121,607,203 (GRCm39) V121E probably damaging Het
L1cam T A X: 72,910,630 (GRCm39) H30L probably benign Het
Lss A T 10: 76,367,860 (GRCm39) probably benign Het
Mrnip A T 11: 50,090,596 (GRCm39) Q253H probably damaging Het
Mroh9 A T 1: 162,852,205 (GRCm39) F828Y possibly damaging Het
Mst1 T C 9: 107,962,012 (GRCm39) C668R probably damaging Het
Nadk A G 4: 155,671,253 (GRCm39) E143G probably benign Het
Nap1l4 C T 7: 143,080,902 (GRCm39) probably null Het
Nme8 A G 13: 19,836,414 (GRCm39) I254T possibly damaging Het
Or14c41 A G 7: 86,234,779 (GRCm39) I99V probably benign Het
Or1ab2 T A 8: 72,863,842 (GRCm39) L144Q probably damaging Het
Or2y12 A G 11: 49,426,021 (GRCm39) Y3C probably benign Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Pkd1l3 C T 8: 110,374,999 (GRCm39) L1491F probably damaging Het
Plec G T 15: 76,059,968 (GRCm39) T3488N probably damaging Het
Plk2 T G 13: 110,535,668 (GRCm39) S497A probably benign Het
Polr1a G A 6: 71,913,496 (GRCm39) V617I probably benign Het
Prelid3a C A 18: 67,609,909 (GRCm39) Y112* probably null Het
Rnf113a2 C A 12: 84,464,250 (GRCm39) S47R possibly damaging Het
Rtel1 A G 2: 180,991,976 (GRCm39) N410D probably benign Het
Ryr3 C T 2: 112,630,392 (GRCm39) A2140T probably damaging Het
Slc22a29 A G 19: 8,147,354 (GRCm39) L336P probably benign Het
Sphkap T A 1: 83,234,963 (GRCm39) Q1621L probably damaging Het
Trgc1 A T 13: 19,400,072 (GRCm39) K123* probably null Het
Ttn T A 2: 76,739,863 (GRCm39) S3559C probably benign Het
Ubr4 C T 4: 139,207,987 (GRCm39) R4923W probably damaging Het
Vac14 T C 8: 111,437,084 (GRCm39) L599P probably damaging Het
Wdr5 T C 2: 27,409,746 (GRCm39) probably benign Het
Other mutations in Gatm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01712:Gatm APN 2 122,431,306 (GRCm39) missense possibly damaging 0.49
mrbig UTSW 2 122,431,225 (GRCm39) missense probably damaging 1.00
staggering UTSW 2 122,426,018 (GRCm39) missense probably damaging 1.00
Weighted UTSW 2 122,440,141 (GRCm39) splice site probably benign
R0046:Gatm UTSW 2 122,431,225 (GRCm39) missense probably damaging 1.00
R0046:Gatm UTSW 2 122,431,225 (GRCm39) missense probably damaging 1.00
R1004:Gatm UTSW 2 122,440,141 (GRCm39) splice site probably benign
R2088:Gatm UTSW 2 122,428,629 (GRCm39) missense probably benign
R2128:Gatm UTSW 2 122,431,017 (GRCm39) missense probably damaging 1.00
R4027:Gatm UTSW 2 122,427,927 (GRCm39) missense probably damaging 1.00
R5155:Gatm UTSW 2 122,440,334 (GRCm39) missense probably benign 0.04
R5183:Gatm UTSW 2 122,425,984 (GRCm39) missense probably benign 0.01
R5517:Gatm UTSW 2 122,426,024 (GRCm39) missense probably damaging 1.00
R5804:Gatm UTSW 2 122,433,083 (GRCm39) missense probably benign 0.01
R5842:Gatm UTSW 2 122,434,108 (GRCm39) missense probably benign
R6362:Gatm UTSW 2 122,428,677 (GRCm39) missense probably benign 0.06
R8136:Gatm UTSW 2 122,426,018 (GRCm39) missense probably damaging 1.00
R8199:Gatm UTSW 2 122,432,994 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02