Incidental Mutation 'R5517:Gatm'
ID 431326
Institutional Source Beutler Lab
Gene Symbol Gatm
Ensembl Gene ENSMUSG00000027199
Gene Name glycine amidinotransferase (L-arginine:glycine amidinotransferase)
Synonyms 1810003P21Rik
MMRRC Submission 043076-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5517 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 122424954-122441758 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 122426024 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 409 (T409I)
Ref Sequence ENSEMBL: ENSMUSP00000028624 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028624]
AlphaFold Q9D964
Predicted Effect probably damaging
Transcript: ENSMUST00000028624
AA Change: T409I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028624
Gene: ENSMUSG00000027199
AA Change: T409I

Pfam:Amidinotransf 254 414 3e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140808
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154598
Meta Mutation Damage Score 0.9742 question?
Coding Region Coverage
  • 1x: 98.5%
  • 3x: 97.4%
  • 10x: 95.2%
  • 20x: 90.5%
Validation Efficiency 99% (67/68)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 C T 17: 36,269,233 (GRCm39) R675K possibly damaging Het
Aire A T 10: 77,875,525 (GRCm39) S282T probably benign Het
Ak9 A G 10: 41,216,887 (GRCm39) E283G probably benign Het
Akap9 T A 5: 4,051,665 (GRCm39) D1477E possibly damaging Het
Ap2a1 T C 7: 44,556,405 (GRCm39) D273G possibly damaging Het
Apob T C 12: 8,040,906 (GRCm39) L664P probably damaging Het
Arhgap35 A T 7: 16,297,414 (GRCm39) F550L probably damaging Het
Armc2 T C 10: 41,839,846 (GRCm39) E373G probably benign Het
Atp8b2 C A 3: 89,853,338 (GRCm39) A726S probably benign Het
C030048H21Rik T A 2: 26,145,899 (GRCm39) Q87L probably damaging Het
Cd244a T A 1: 171,405,542 (GRCm39) probably benign Het
Cdk10 T A 8: 123,957,326 (GRCm39) probably null Het
Cenpe C A 3: 134,929,026 (GRCm39) P310Q probably damaging Het
Chuk T A 19: 44,085,972 (GRCm39) probably null Het
Crebl2 T C 6: 134,828,139 (GRCm39) S104P probably benign Het
Ddo A G 10: 40,523,726 (GRCm39) K239E probably benign Het
Defb5 A G 8: 19,300,868 (GRCm39) probably null Het
Dhx35 T A 2: 158,676,832 (GRCm39) M422K probably damaging Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Gdpd1 A T 11: 86,950,332 (GRCm39) D80E probably damaging Het
Gspt1 C A 16: 11,071,843 (GRCm39) G7C unknown Het
Hells G A 19: 38,943,244 (GRCm39) S516N probably benign Het
Ints1 A G 5: 139,738,542 (GRCm39) S2069P possibly damaging Het
Kank4 G A 4: 98,663,118 (GRCm39) T690M probably damaging Het
Kcnq4 T C 4: 120,573,006 (GRCm39) N265S possibly damaging Het
Kif5b C A 18: 6,220,954 (GRCm39) A385S probably benign Het
Map2 T C 1: 66,454,415 (GRCm39) S1102P probably benign Het
Mcm7 A G 5: 138,163,133 (GRCm39) S340P possibly damaging Het
Mcrs1 C T 15: 99,144,876 (GRCm39) R246H possibly damaging Het
Myo16 T A 8: 10,610,226 (GRCm39) M1189K probably benign Het
Or4d2 A T 11: 87,783,892 (GRCm39) I286N probably damaging Het
Or4k52 G T 2: 111,610,804 (GRCm39) M46I probably benign Het
Or7g29 G A 9: 19,287,063 (GRCm39) T38I probably damaging Het
Otog A G 7: 45,923,995 (GRCm39) N1118S probably damaging Het
Pakap T C 4: 57,855,987 (GRCm39) Y439H probably damaging Het
Pcdhb7 G T 18: 37,474,846 (GRCm39) probably benign Het
Picalm C T 7: 89,819,806 (GRCm39) T189I possibly damaging Het
Ptx4 T A 17: 25,343,760 (GRCm39) S337T possibly damaging Het
Rad51ap2 C T 12: 11,508,313 (GRCm39) S745L probably benign Het
Rspry1 G A 8: 95,363,388 (GRCm39) probably null Het
Scn5a T G 9: 119,324,779 (GRCm39) I1350L probably damaging Het
Sgk2 T C 2: 162,839,755 (GRCm39) L121P probably damaging Het
Slc17a1 A T 13: 24,056,575 (GRCm39) probably benign Het
Slc6a12 A G 6: 121,331,298 (GRCm39) N183S probably benign Het
Smg9 C A 7: 24,114,338 (GRCm39) probably benign Het
Spred1 G A 2: 117,008,195 (GRCm39) S367N probably damaging Het
Srpra T C 9: 35,122,646 (GRCm39) V21A probably benign Het
Taar2 A T 10: 23,816,627 (GRCm39) I56F possibly damaging Het
Taf1a T G 1: 183,177,323 (GRCm39) L67R probably damaging Het
Tbc1d10b C A 7: 126,797,779 (GRCm39) R787S possibly damaging Het
Topbp1 T A 9: 103,213,313 (GRCm39) N1044K probably benign Het
Usp24 A G 4: 106,232,871 (GRCm39) T886A probably benign Het
Vmn2r26 A G 6: 124,027,676 (GRCm39) D472G probably damaging Het
Zyg11a T C 4: 108,061,943 (GRCm39) N286S possibly damaging Het
Other mutations in Gatm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01712:Gatm APN 2 122,431,306 (GRCm39) missense possibly damaging 0.49
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
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
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-10-05