Incidental Mutation 'R4814:Amt'
ID 369649
Institutional Source Beutler Lab
Gene Symbol Amt
Ensembl Gene ENSMUSG00000032607
Gene Name aminomethyltransferase
Synonyms EG434437
MMRRC Submission 042432-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4814 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 108174104-108179501 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 108176979 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 196 (T196A)
Ref Sequence ENSEMBL: ENSMUSP00000035230 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035227] [ENSMUST00000035230] [ENSMUST00000044725] [ENSMUST00000192886] [ENSMUST00000195615]
AlphaFold Q8CFA2
Predicted Effect probably benign
Transcript: ENSMUST00000035227
Predicted Effect probably benign
Transcript: ENSMUST00000035230
AA Change: T196A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000035230
Gene: ENSMUSG00000032607
AA Change: T196A

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 noncoding transcript
Transcript: ENSMUST00000192035
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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency 100% (79/79)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp T G 16: 56,471,116 (GRCm39) V587G probably benign Het
Abtb2 A G 2: 103,547,632 (GRCm39) D1002G probably benign Het
Acap2 A G 16: 30,926,944 (GRCm39) S524P probably benign Het
Acsm1 A T 7: 119,254,687 (GRCm39) I385L probably benign Het
Adra1a C G 14: 66,875,481 (GRCm39) A152G probably benign Het
Agbl4 A T 4: 111,513,565 (GRCm39) Y437F possibly damaging Het
Apobr G A 7: 126,185,859 (GRCm39) V457M probably benign Het
Birc6 A G 17: 74,956,667 (GRCm39) K3563E probably damaging Het
Cdadc1 AGACGGA AGA 14: 59,806,440 (GRCm39) probably null Het
Chrna9 T C 5: 66,134,492 (GRCm39) W448R probably damaging Het
Cyp4a31 A T 4: 115,427,466 (GRCm39) D224V probably damaging Het
Ddx10 C A 9: 53,115,405 (GRCm39) R643L possibly damaging Het
Dip2c A G 13: 9,586,896 (GRCm39) H200R probably benign Het
Dnah8 A T 17: 30,986,898 (GRCm39) R3182S probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Egfr T C 11: 16,819,354 (GRCm39) C295R probably damaging Het
Garem1 A T 18: 21,281,173 (GRCm39) N394K probably damaging Het
Gcat T C 15: 78,915,322 (GRCm39) probably null Het
Gckr C T 5: 31,455,644 (GRCm39) Q66* probably null Het
Gm26996 A T 6: 130,556,317 (GRCm39) noncoding transcript Het
Gm9386 C A 17: 81,246,141 (GRCm39) noncoding transcript Het
Gpr6 A T 10: 40,947,258 (GRCm39) M108K possibly damaging Het
H2-Q10 A C 17: 35,784,481 (GRCm39) probably benign Het
Hpf1 A G 8: 61,346,841 (GRCm39) D52G probably damaging Het
Jak2 A G 19: 29,279,377 (GRCm39) R989G probably damaging Het
Kat7 A G 11: 95,193,949 (GRCm39) probably benign Het
Kcnn3 G T 3: 89,570,031 (GRCm39) V615F probably damaging Het
Lgi1 G T 19: 38,289,326 (GRCm39) probably null Het
Lrrtm4 A T 6: 80,000,117 (GRCm39) T510S possibly damaging Het
Map7d1 A G 4: 126,128,114 (GRCm39) probably null Het
Mapt T C 11: 104,189,786 (GRCm39) V252A probably benign Het
Mbd4 A T 6: 115,826,260 (GRCm39) S223T possibly damaging Het
Meig1 T A 2: 3,412,959 (GRCm39) I21L probably benign Het
Mia3 A G 1: 183,113,684 (GRCm39) Y447H probably damaging Het
Mrpl46 A C 7: 78,430,343 (GRCm39) N142K probably benign Het
Myo18a C A 11: 77,750,062 (GRCm39) probably benign Het
Nup188 A G 2: 30,216,523 (GRCm39) T776A possibly damaging Het
Oas1h C A 5: 121,000,728 (GRCm39) H113N probably damaging Het
Or6c202 T A 10: 128,996,245 (GRCm39) T203S possibly damaging Het
Or7g18 A G 9: 18,787,213 (GRCm39) I197V probably benign Het
Or7g27 C T 9: 19,250,476 (GRCm39) T240M probably damaging Het
Or9i1b A T 19: 13,896,817 (GRCm39) L144F possibly damaging Het
Orc3 T A 4: 34,572,450 (GRCm39) probably benign Het
Osbpl3 T A 6: 50,329,980 (GRCm39) L65F probably damaging Het
Papola C A 12: 105,765,912 (GRCm39) P4Q probably damaging Het
Pepd A G 7: 34,645,022 (GRCm39) N151S probably damaging Het
Plekhm2 A G 4: 141,355,150 (GRCm39) L959P probably benign Het
Prpf40a A T 2: 53,080,032 (GRCm39) H82Q probably damaging Het
Robo1 C T 16: 72,768,923 (GRCm39) T496M probably benign Het
Samd9l T G 6: 3,372,863 (GRCm39) Q1466P probably damaging Het
Serpina1a T C 12: 103,821,022 (GRCm39) T342A probably benign Het
Serpina3i A G 12: 104,231,470 (GRCm39) T36A probably benign Het
Serpinb5 G T 1: 106,800,069 (GRCm39) L86F probably damaging Het
Slc35g1 A G 19: 38,391,275 (GRCm39) S186G possibly damaging Het
Slco6d1 T A 1: 98,350,899 (GRCm39) D126E probably benign Het
Smchd1 A G 17: 71,718,763 (GRCm39) probably null Het
Smpdl3a C A 10: 57,687,337 (GRCm39) T355K probably damaging Het
Sntg2 A G 12: 30,423,267 (GRCm39) probably benign Het
Sox14 T A 9: 99,757,284 (GRCm39) M152L probably benign Het
Spats2l G T 1: 57,977,085 (GRCm39) A308S possibly damaging Het
Tcf12 T C 9: 71,777,323 (GRCm39) probably benign Het
Tcf7l2 T A 19: 55,912,504 (GRCm39) C478* probably null Het
Tekt5 A G 16: 10,200,771 (GRCm39) L250P probably damaging Het
Tmem132d T G 5: 128,061,328 (GRCm39) I425L probably benign Het
Tmem174 T A 13: 98,773,456 (GRCm39) I125F probably damaging Het
Trafd1 T G 5: 121,512,079 (GRCm39) I404L probably benign Het
Trpm5 G A 7: 142,636,373 (GRCm39) P500S possibly damaging Het
Trpm6 T A 19: 18,839,576 (GRCm39) N1616K probably benign Het
Vmn1r4 A G 6: 56,933,715 (GRCm39) D73G possibly damaging Het
Vmn2r85 T A 10: 130,254,567 (GRCm39) I706F probably benign Het
Zc3h14 C G 12: 98,719,107 (GRCm39) D157E probably damaging Het
Zfp982 A G 4: 147,597,090 (GRCm39) Q149R possibly damaging Het
Other mutations in Amt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02657:Amt APN 9 108,178,579 (GRCm39) missense probably damaging 1.00
IGL03277:Amt APN 9 108,178,418 (GRCm39) missense probably benign
R1333:Amt UTSW 9 108,178,296 (GRCm39) missense probably benign 0.04
R1856:Amt UTSW 9 108,174,361 (GRCm39) missense probably damaging 1.00
R3843:Amt UTSW 9 108,174,420 (GRCm39) missense possibly damaging 0.74
R3844:Amt UTSW 9 108,174,420 (GRCm39) missense possibly damaging 0.74
R3903:Amt UTSW 9 108,174,420 (GRCm39) missense possibly damaging 0.74
R3904:Amt UTSW 9 108,174,420 (GRCm39) missense possibly damaging 0.74
R4729:Amt UTSW 9 108,177,851 (GRCm39) missense probably damaging 1.00
R5149:Amt UTSW 9 108,178,650 (GRCm39) missense possibly damaging 0.59
R6000:Amt UTSW 9 108,178,684 (GRCm39) missense probably benign 0.20
R6044:Amt UTSW 9 108,174,450 (GRCm39) missense probably damaging 1.00
R6911:Amt UTSW 9 108,178,428 (GRCm39) critical splice donor site probably null
R6957:Amt UTSW 9 108,177,032 (GRCm39) missense possibly damaging 0.51
R7618:Amt UTSW 9 108,177,077 (GRCm39) missense probably damaging 1.00
R7658:Amt UTSW 9 108,174,430 (GRCm39) missense probably damaging 0.98
R7783:Amt UTSW 9 108,174,414 (GRCm39) nonsense probably null
R9276:Amt UTSW 9 108,178,410 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TATCCATAGGCTAGGGACAAGG -3'
(R):5'- CGATCTAAGCTTTACAAGTAGATCTTT -3'

Sequencing Primer
(F):5'- TAGGGACAAGGGCATTCTCTCTC -3'
(R):5'- CAAGACAGGGTTTCTCTGTATAGCC -3'
Posted On 2016-02-04