Incidental Mutation 'IGL03115:Gamt'
ID419398
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gamt
Ensembl Gene ENSMUSG00000020150
Gene Nameguanidinoacetate methyltransferase
SynonymsSpintz1
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.416) question?
Stock #IGL03115
Quality Score
Status
Chromosome10
Chromosomal Location80258151-80261012 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 80258438 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 197 (L197P)
Ref Sequence ENSEMBL: ENSMUSP00000101002 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020359] [ENSMUST00000020361] [ENSMUST00000105363] [ENSMUST00000105364] [ENSMUST00000156935]
Predicted Effect probably damaging
Transcript: ENSMUST00000020359
AA Change: L213P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020359
Gene: ENSMUSG00000020150
AA Change: L213P

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 probably damaging
Transcript: ENSMUST00000105363
AA Change: L197P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101002
Gene: ENSMUSG00000020150
AA Change: L197P

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: ENSMUST00000155523
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157063
Coding Region Coverage
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 T A 14: 68,571,353 H302L probably damaging Het
Adamts12 T A 15: 11,263,336 C595S probably damaging Het
Arid2 G A 15: 96,370,273 V756I probably damaging Het
Asah1 A T 8: 41,360,299 W26R possibly damaging Het
Brinp1 C T 4: 68,904,736 probably null Het
Cers2 A G 3: 95,321,352 D162G probably damaging Het
Clasp1 G T 1: 118,501,323 E106* probably null Het
Col12a1 T C 9: 79,681,437 E1132G probably damaging Het
Dhdds G T 4: 133,982,871 H196N probably benign Het
Eps8 T C 6: 137,527,381 D118G probably damaging Het
Fmo9 A G 1: 166,677,651 S7P probably damaging Het
Grb7 A G 11: 98,451,119 I82V probably damaging Het
Hectd2 T C 19: 36,599,721 probably null Het
Ilk T C 7: 105,740,335 V83A probably damaging Het
Kif21a T A 15: 90,985,395 I418F probably damaging Het
Kndc1 A G 7: 139,921,509 I905V probably benign Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Morc3 T C 16: 93,871,083 I710T probably damaging Het
Nefm T C 14: 68,120,279 probably benign Het
Olfr452 A G 6: 42,790,665 T209A probably benign Het
Olfr937 C A 9: 39,059,963 R234S probably damaging Het
Olfr975 T C 9: 39,950,744 E9G probably damaging Het
Pard6g T G 18: 80,079,853 L34W probably damaging Het
Patj C T 4: 98,443,803 S562L probably damaging Het
Pcsk4 A G 10: 80,329,049 I61T probably damaging Het
Pcsk7 T A 9: 45,914,372 H300Q probably damaging Het
Pip5kl1 A G 2: 32,580,021 D288G probably damaging Het
Plxnb2 T A 15: 89,162,438 probably benign Het
Poldip2 T C 11: 78,521,144 probably benign Het
Ralgapa2 T C 2: 146,424,814 Y614C probably damaging Het
Rarres1 C A 3: 67,495,812 probably null Het
Samd3 C T 10: 26,271,708 T427M probably damaging Het
Skap1 A G 11: 96,702,620 I98V probably benign Het
Skint11 T C 4: 114,244,623 S87P probably damaging Het
Slc22a22 T G 15: 57,263,274 E133A probably damaging Het
Slc23a2 T C 2: 132,091,265 Y91C probably damaging Het
Slc6a20b T A 9: 123,597,338 E494V possibly damaging Het
Slco1a4 A C 6: 141,817,859 M377R probably damaging Het
Slco1a4 A T 6: 141,819,603 D304E probably benign Het
Srpk2 T C 5: 23,524,618 probably null Het
Supt3 T G 17: 45,041,227 C271W probably damaging Het
Taar7d C A 10: 24,027,641 F140L probably benign Het
Tmbim7 T C 5: 3,679,158 *225Q probably null Het
Tpst1 T C 5: 130,101,911 I74T probably damaging Het
Utp3 T C 5: 88,555,320 V236A possibly damaging Het
Vmn2r55 A T 7: 12,670,631 F282I probably damaging Het
Vwa5b1 A T 4: 138,600,149 I372N possibly damaging Het
Wtip C T 7: 34,125,533 A209T probably damaging Het
Zbbx T C 3: 75,078,560 D395G probably benign Het
Zfp273 A T 13: 67,825,650 H299L probably damaging Het
Zfp459 G A 13: 67,408,677 R96* probably null Het
Other mutations in Gamt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02174:Gamt APN 10 80258396 missense possibly damaging 0.89
mr_bigger UTSW 10 80260724 nonsense probably null
R0001:Gamt UTSW 10 80259061 unclassified probably benign
R1471:Gamt UTSW 10 80260858 missense probably benign 0.37
R4156:Gamt UTSW 10 80260724 nonsense probably null
R5049:Gamt UTSW 10 80258954 missense probably benign
R5890:Gamt UTSW 10 80259907 missense possibly damaging 0.94
Posted On2016-08-02