Incidental Mutation 'IGL01712:Gatm'
ID 104828
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 # IGL01712
Quality Score
Status
Chromosome 2
Chromosomal Location 122424954-122441758 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 122431306 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 227 (Y227F)
Ref Sequence ENSEMBL: ENSMUSP00000028624 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028624]
AlphaFold Q9D964
Predicted Effect possibly damaging
Transcript: ENSMUST00000028624
AA Change: Y227F

PolyPhen 2 Score 0.494 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000028624
Gene: ENSMUSG00000027199
AA Change: Y227F

DomainStartEndE-ValueType
Pfam:Amidinotransf 254 414 3e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140808
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154598
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm3 T A 3: 59,776,321 (GRCm39) I164N possibly damaging Het
Adgrb3 A G 1: 25,865,360 (GRCm39) V161A probably benign Het
Arhgdib G A 6: 136,901,195 (GRCm39) T178M probably damaging Het
Atp11a T A 8: 12,901,138 (GRCm39) I989K probably benign Het
Bcam T C 7: 19,492,692 (GRCm39) S498G probably damaging Het
Bcas3 A G 11: 85,471,874 (GRCm39) I728V probably damaging Het
Cep57 G T 9: 13,724,713 (GRCm39) P119Q possibly damaging Het
Cimip2a T C 2: 25,108,804 (GRCm39) probably benign Het
Clip4 T A 17: 72,106,036 (GRCm39) I73N probably damaging Het
Cpa4 A G 6: 30,590,815 (GRCm39) D371G possibly damaging Het
Dnah7a A G 1: 53,462,429 (GRCm39) S3721P probably benign Het
Fcrla T C 1: 170,749,192 (GRCm39) probably null Het
Foxg1 T C 12: 49,432,403 (GRCm39) S379P possibly damaging Het
Grid2 A T 6: 64,642,899 (GRCm39) D887V possibly damaging Het
Gtpbp6 A T 5: 110,252,245 (GRCm39) I429N probably benign Het
Ighmbp2 A G 19: 3,323,038 (GRCm39) probably benign Het
Irs4 T C X: 140,505,395 (GRCm39) N934D unknown Het
Kif16b T A 2: 142,490,391 (GRCm39) N1257I probably damaging Het
L1cam T C X: 72,908,044 (GRCm39) Y169C probably damaging Het
L3mbtl3 A T 10: 26,152,133 (GRCm39) M821K probably damaging Het
Lig3 A G 11: 82,680,367 (GRCm39) probably benign Het
Lpin2 T A 17: 71,522,063 (GRCm39) D32E probably damaging Het
Mcoln3 T C 3: 145,834,019 (GRCm39) probably benign Het
Mgst2 T C 3: 51,571,992 (GRCm39) V40A probably damaging Het
Mov10l1 T C 15: 88,908,969 (GRCm39) S997P probably damaging Het
Mycbpap G T 11: 94,403,481 (GRCm39) H187Q possibly damaging Het
Onecut2 T A 18: 64,519,673 (GRCm39) S478T probably damaging Het
Or2n1d A T 17: 38,646,848 (GRCm39) T267S probably benign Het
Or52h7 T C 7: 104,214,226 (GRCm39) V266A probably benign Het
Pcdhb5 A T 18: 37,454,306 (GRCm39) I229F probably damaging Het
Pfas A G 11: 68,881,886 (GRCm39) V933A probably benign Het
Phldb2 A T 16: 45,571,792 (GRCm39) I1200N probably damaging Het
Pla2g4e C A 2: 120,019,884 (GRCm39) probably null Het
Prr36 G A 8: 4,265,243 (GRCm39) P169L probably damaging Het
Rhot2 A G 17: 26,060,334 (GRCm39) probably null Het
Serpina3f C T 12: 104,184,657 (GRCm39) P267L probably damaging Het
Sppl2a C T 2: 126,746,823 (GRCm39) probably benign Het
Tas2r122 A T 6: 132,688,725 (GRCm39) M56K possibly damaging Het
Tbxas1 A G 6: 39,057,994 (GRCm39) T450A probably benign Het
Tex16 T C X: 111,003,451 (GRCm39) S87P probably damaging Het
Them7 T A 2: 105,209,230 (GRCm39) F183L possibly damaging Het
Tmbim7 A G 5: 3,720,074 (GRCm39) T116A probably damaging Het
Tomm40 G T 7: 19,437,288 (GRCm39) S224R probably benign Het
Top3a A T 11: 60,652,562 (GRCm39) I84N probably damaging Het
Vmn1r28 A G 6: 58,242,393 (GRCm39) T79A probably benign Het
Vmn2r61 A T 7: 41,909,661 (GRCm39) Y62F probably damaging Het
Zbtb42 T C 12: 112,646,718 (GRCm39) C298R probably benign Het
Zfp395 G A 14: 65,623,836 (GRCm39) E102K probably damaging Het
Other mutations in Gatm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03059:Gatm APN 2 122,440,181 (GRCm39) missense probably damaging 1.00
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 2014-01-21