Incidental Mutation 'IGL03277:Amt'
ID415449
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Amt
Ensembl Gene ENSMUSG00000032607
Gene Nameaminomethyltransferase
SynonymsEG434437
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03277
Quality Score
Status
Chromosome9
Chromosomal Location108296853-108302302 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 108301219 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 342 (T342A)
Ref Sequence ENSEMBL: ENSMUSP00000035230 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007959] [ENSMUST00000035227] [ENSMUST00000035230] [ENSMUST00000044725] [ENSMUST00000192886] [ENSMUST00000195615]
Predicted Effect probably benign
Transcript: ENSMUST00000007959
SMART Domains Protein: ENSMUSP00000007959
Gene: ENSMUSG00000007815

DomainStartEndE-ValueType
RHO 8 181 1.09e-134 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000035227
Predicted Effect probably benign
Transcript: ENSMUST00000035230
AA Change: T342A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000035230
Gene: ENSMUSG00000032607
AA Change: T342A

DomainStartEndE-ValueType
Pfam:GCV_T 38 291 7.8e-86 PFAM
Pfam:GCV_T_C 300 392 1.6e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000044725
SMART Domains Protein: ENSMUSP00000045063
Gene: ENSMUSG00000039461

DomainStartEndE-ValueType
Pfam:T_cell_tran_alt 15 122 1.3e-39 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160025
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160675
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162568
Predicted Effect probably benign
Transcript: ENSMUST00000192886
SMART Domains Protein: ENSMUSP00000142002
Gene: ENSMUSG00000039461

DomainStartEndE-ValueType
Pfam:T_cell_tran_alt 15 106 1.5e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000195615
SMART Domains Protein: ENSMUSP00000141592
Gene: ENSMUSG00000039461

DomainStartEndE-ValueType
Pfam:T_cell_tran_alt 15 103 2.9e-39 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 one of four critical components of the glycine cleavage system. Mutations in this gene have been associated with glycine encephalopathy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for a gene trapped allele develop neural tubes defects at high frequency and exhibit prenatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
B3glct T C 5: 149,726,834 L134P probably damaging Het
Bms1 A T 6: 118,405,122 M485K probably benign Het
Chd6 T C 2: 160,983,061 N1226S probably null Het
Cpne2 T C 8: 94,548,372 Y3H probably benign Het
Dmxl2 A G 9: 54,404,220 V1739A probably damaging Het
Dnah7a T A 1: 53,630,322 T543S probably benign Het
Dock11 T G X: 36,013,950 V1000G probably benign Het
Ednrb T A 14: 103,843,299 N60Y probably benign Het
Eif3d A G 15: 77,959,649 M499T possibly damaging Het
Elmod1 G A 9: 53,925,988 L178F probably damaging Het
Fam214a G A 9: 75,009,232 R371Q probably damaging Het
Hrh4 T C 18: 13,015,883 S101P probably damaging Het
Ift172 A G 5: 31,267,298 V684A possibly damaging Het
Mtx2 A G 2: 74,868,404 T124A probably damaging Het
Nat3 T A 8: 67,547,689 H73Q probably benign Het
Ndst2 A G 14: 20,730,166 L2P possibly damaging Het
Nipsnap3a G T 4: 52,997,219 A162S probably benign Het
Olfr1030 T C 2: 85,984,173 I111T probably damaging Het
Olfr47 T G 6: 43,235,942 C111W probably damaging Het
Peg3 T C 7: 6,711,674 D183G probably damaging Het
Prlr A G 15: 10,328,801 E454G probably benign Het
Prom1 G A 5: 44,032,971 Q364* probably null Het
Scgb2b7 A T 7: 31,705,081 C65S probably damaging Het
Sema5b A G 16: 35,651,312 D425G probably damaging Het
Slc16a7 A T 10: 125,230,691 C360S probably benign Het
Slc38a7 T A 8: 95,848,476 I59F probably damaging Het
Slc5a6 A G 5: 31,038,028 C449R possibly damaging Het
Slc9b1 T C 3: 135,390,508 Y357H possibly damaging Het
Snx17 A T 5: 31,195,740 probably benign Het
Stk32b A C 5: 37,628,976 M48R probably damaging Het
Tspan9 A G 6: 127,967,075 probably null Het
Tst A T 15: 78,405,321 N171K probably damaging Het
Vmn1r180 T A 7: 23,953,285 I291N probably damaging Het
Vmn2r32 T A 7: 7,474,252 D380V probably benign Het
Wdfy4 T C 14: 33,068,904 T2189A probably benign Het
Zbtb20 A G 16: 43,618,437 N640S possibly damaging Het
Zfp142 A G 1: 74,571,034 S1098P probably damaging Het
Other mutations in Amt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02657:Amt APN 9 108301380 missense probably damaging 1.00
R1333:Amt UTSW 9 108301097 missense probably benign 0.04
R1856:Amt UTSW 9 108297162 missense probably damaging 1.00
R3843:Amt UTSW 9 108297221 missense possibly damaging 0.74
R3844:Amt UTSW 9 108297221 missense possibly damaging 0.74
R3903:Amt UTSW 9 108297221 missense possibly damaging 0.74
R3904:Amt UTSW 9 108297221 missense possibly damaging 0.74
R4729:Amt UTSW 9 108300652 missense probably damaging 1.00
R4814:Amt UTSW 9 108299780 missense probably benign
R5149:Amt UTSW 9 108301451 missense possibly damaging 0.59
R6000:Amt UTSW 9 108301485 missense probably benign 0.20
R6044:Amt UTSW 9 108297251 missense probably damaging 1.00
R6911:Amt UTSW 9 108301229 critical splice donor site probably null
R6957:Amt UTSW 9 108299833 missense possibly damaging 0.51
R7618:Amt UTSW 9 108299878 missense probably damaging 1.00
R7658:Amt UTSW 9 108297231 missense probably damaging 0.98
R7783:Amt UTSW 9 108297215 nonsense probably null
Posted On2016-08-02