Incidental Mutation 'R5890:Gamt'
ID 457105
Institutional Source Beutler Lab
Gene Symbol Gamt
Ensembl Gene ENSMUSG00000020150
Gene Name guanidinoacetate methyltransferase
Synonyms Spintz1
MMRRC Submission 044091-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.404) question?
Stock # R5890 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 80093985-80096846 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 80095741 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 63 (R63L)
Ref Sequence ENSEMBL: ENSMUSP00000101002 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020359] [ENSMUST00000020361] [ENSMUST00000105363] [ENSMUST00000105364] [ENSMUST00000156935]
AlphaFold O35969
Predicted Effect possibly damaging
Transcript: ENSMUST00000020359
AA Change: R63L

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000020359
Gene: ENSMUSG00000020150
AA Change: R63L

DomainStartEndE-ValueType
PDB:1XCL|A 2 252 1e-151 PDB
SCOP:d1khha_ 44 252 3e-32 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000020361
SMART Domains Protein: ENSMUSP00000020361
Gene: ENSMUSG00000020153

DomainStartEndE-ValueType
low complexity region 36 46 N/A INTRINSIC
low complexity region 49 60 N/A INTRINSIC
Pfam:Oxidored_q6 98 208 1.9e-25 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000105363
AA Change: R63L

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101002
Gene: ENSMUSG00000020150
AA Change: R63L

DomainStartEndE-ValueType
PDB:1XCL|A 2 236 1e-155 PDB
SCOP:d1khha_ 44 236 2e-34 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105364
SMART Domains Protein: ENSMUSP00000101003
Gene: ENSMUSG00000020153

DomainStartEndE-ValueType
low complexity region 36 46 N/A INTRINSIC
low complexity region 49 60 N/A INTRINSIC
Pfam:Oxidored_q6 98 208 1.9e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144798
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148615
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155336
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157063
Predicted Effect probably benign
Transcript: ENSMUST00000156935
SMART Domains Protein: ENSMUSP00000117497
Gene: ENSMUSG00000069565

DomainStartEndE-ValueType
RRM 3 75 1.89e-24 SMART
RRM 105 171 6.71e-16 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a methyltransferase that converts guanidoacetate to creatine, using S-adenosylmethionine as the methyl donor. Defects in this gene have been implicated in neurologic syndromes and muscular hypotonia, probably due to creatine deficiency and accumulation of guanidinoacetate in the brain of affected individuals. Two transcript variants encoding different isoforms have been described for this gene. Pseudogenes of this gene are found on chromosomes 2 and 13. [provided by RefSeq, Feb 2012]
PHENOTYPE: Homozygous null mice display increased postnatal lethality; reduced body weight, muscle tension, and creatine concentrations; infertility with impaired spermatogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,550,554 (GRCm39) probably null Het
Acsm3 C A 7: 119,374,457 (GRCm39) T303N probably benign Het
Adamts13 A T 2: 26,876,603 (GRCm39) R506W probably damaging Het
Adck5 C T 15: 76,477,785 (GRCm39) T166M probably damaging Het
Adcy8 T A 15: 64,687,266 (GRCm39) I413F probably damaging Het
Adgrl2 A T 3: 148,564,811 (GRCm39) D252E probably damaging Het
Aldh16a1 T A 7: 44,793,969 (GRCm39) T636S probably benign Het
Ampd1 C A 3: 102,997,391 (GRCm39) F264L probably damaging Het
Arhgap17 T C 7: 122,885,981 (GRCm39) probably benign Het
Babam2 A G 5: 32,222,151 (GRCm39) probably benign Het
Bltp2 C T 11: 78,164,096 (GRCm39) Q40* probably null Het
Bod1l T A 5: 41,977,921 (GRCm39) E1131V probably benign Het
Cbs C T 17: 31,832,193 (GRCm39) V553M probably damaging Het
Cd72 T C 4: 43,454,475 (GRCm39) K18R probably damaging Het
Cep89 A G 7: 35,128,587 (GRCm39) Y580C probably damaging Het
Chrnb1 T A 11: 69,683,555 (GRCm39) I264F possibly damaging Het
Cntf A G 19: 12,741,357 (GRCm39) W168R probably damaging Het
Cxxc1 T A 18: 74,354,237 (GRCm39) D648E possibly damaging Het
Cyp2c68 A T 19: 39,700,936 (GRCm39) L294Q probably damaging Het
Dab2ip T C 2: 35,605,414 (GRCm39) S532P probably damaging Het
Defb3 G A 8: 19,345,200 (GRCm39) C52Y probably damaging Het
Dennd5a T G 7: 109,533,428 (GRCm39) E114A probably benign Het
Dnah12 T C 14: 26,428,039 (GRCm39) F222L probably benign Het
Dock9 A C 14: 121,905,820 (GRCm39) probably null Het
Fras1 A T 5: 96,793,807 (GRCm39) H1043L probably benign Het
Gm1527 A G 3: 28,969,544 (GRCm39) H298R probably benign Het
Gphb5 C T 12: 75,462,596 (GRCm39) probably null Het
Greb1 A T 12: 16,783,422 (GRCm39) V104D possibly damaging Het
Hck A G 2: 152,970,996 (GRCm39) D86G probably damaging Het
Jhy T A 9: 40,833,958 (GRCm39) K321* probably null Het
Kcna5 C T 6: 126,511,699 (GRCm39) R143H probably damaging Het
Kif19a G T 11: 114,680,264 (GRCm39) W867L possibly damaging Het
Map3k4 G A 17: 12,490,303 (GRCm39) A376V probably damaging Het
Mars1 A T 10: 127,133,914 (GRCm39) M661K probably benign Het
Mecp2 C T X: 73,079,043 (GRCm39) V496M probably damaging Het
Mfsd2b A T 12: 4,917,651 (GRCm39) C132S probably damaging Het
Mfsd4a T C 1: 131,966,666 (GRCm39) Y356C probably damaging Het
Mif4gd G T 11: 115,500,188 (GRCm39) A89E probably benign Het
Mkln1 A T 6: 31,467,482 (GRCm39) E593D probably benign Het
Mlh1 G T 9: 111,057,563 (GRCm39) N749K possibly damaging Het
Mrgprb2 T A 7: 48,201,707 (GRCm39) *339C probably null Het
Nphp4 T C 4: 152,631,536 (GRCm39) V812A probably benign Het
Nrcam G T 12: 44,623,554 (GRCm39) V1048L probably benign Het
Obsl1 G A 1: 75,470,503 (GRCm39) A856V probably damaging Het
Osgepl1 T A 1: 53,357,326 (GRCm39) F163I probably damaging Het
Pcdha6 C A 18: 37,102,121 (GRCm39) T438K possibly damaging Het
Pcdhb20 A T 18: 37,638,286 (GRCm39) M271L probably benign Het
Phip T C 9: 82,789,005 (GRCm39) T770A probably benign Het
Ppm1d A G 11: 85,217,734 (GRCm39) T166A probably damaging Het
Ptprf A T 4: 118,081,932 (GRCm39) I1102K probably benign Het
Sbsn T C 7: 30,452,692 (GRCm39) V569A possibly damaging Het
Skida1 T A 2: 18,050,814 (GRCm39) probably benign Het
Smg1 T A 7: 117,789,809 (GRCm39) probably benign Het
Sorcs2 A G 5: 36,386,535 (GRCm39) Y168H probably damaging Het
Sufu A T 19: 46,443,172 (GRCm39) probably null Het
Tbc1d24 A T 17: 24,404,500 (GRCm39) W215R probably damaging Het
Tenm4 T C 7: 96,552,067 (GRCm39) L2502P probably damaging Het
Tgm4 A T 9: 122,890,703 (GRCm39) E10V probably damaging Het
Trip11 T C 12: 101,852,231 (GRCm39) E611G probably damaging Het
Ttn C A 2: 76,540,243 (GRCm39) A34248S possibly damaging Het
Ube3a T A 7: 58,921,776 (GRCm39) N49K probably damaging Het
Ube3c A G 5: 29,863,290 (GRCm39) D855G possibly damaging Het
Ugt8a A G 3: 125,669,202 (GRCm39) S301P probably benign Het
Wdfy4 T A 14: 32,824,534 (GRCm39) N1295I possibly damaging Het
Wdr47 G T 3: 108,517,328 (GRCm39) G43C probably damaging Het
Wdtc1 A C 4: 133,021,673 (GRCm39) L601W unknown Het
Zfp236 A G 18: 82,658,276 (GRCm39) F614S possibly damaging Het
Zfp637 T A 6: 117,822,047 (GRCm39) D58E possibly damaging Het
Other mutations in Gamt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02174:Gamt APN 10 80,094,230 (GRCm39) missense possibly damaging 0.89
IGL03115:Gamt APN 10 80,094,272 (GRCm39) missense probably damaging 1.00
mr_bigger UTSW 10 80,096,558 (GRCm39) nonsense probably null
R0001:Gamt UTSW 10 80,094,895 (GRCm39) unclassified probably benign
R1471:Gamt UTSW 10 80,096,692 (GRCm39) missense probably benign 0.37
R4156:Gamt UTSW 10 80,096,558 (GRCm39) nonsense probably null
R5049:Gamt UTSW 10 80,094,788 (GRCm39) missense probably benign
R7910:Gamt UTSW 10 80,094,243 (GRCm39) missense possibly damaging 0.95
R9647:Gamt UTSW 10 80,095,672 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGCCTTTCAAGGGAACAACC -3'
(R):5'- TAGAGCACAAATCGCGTGGG -3'

Sequencing Primer
(F):5'- TTGAGGGTCACATGGGACC -3'
(R):5'- TAGCCGCTCTGATTGGCAG -3'
Posted On 2017-02-15