Incidental Mutation 'R6044:Amt'
ID 483722
Institutional Source Beutler Lab
Gene Symbol Amt
Ensembl Gene ENSMUSG00000032607
Gene Name aminomethyltransferase
Synonyms EG434437
MMRRC Submission 044212-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6044 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 108174104-108179501 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 108174450 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 72 (T72S)
Ref Sequence ENSEMBL: ENSMUSP00000035230 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035227] [ENSMUST00000035230]
AlphaFold Q8CFA2
Predicted Effect probably benign
Transcript: ENSMUST00000035227
Predicted Effect probably damaging
Transcript: ENSMUST00000035230
AA Change: T72S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035230
Gene: ENSMUSG00000032607
AA Change: T72S

DomainStartEndE-ValueType
Pfam:GCV_T 38 291 7.8e-86 PFAM
Pfam:GCV_T_C 300 392 1.6e-23 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 noncoding transcript
Transcript: ENSMUST00000194496
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195695
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.0%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik G A 14: 32,382,614 (GRCm39) S1117L possibly damaging Het
Adamts20 A T 15: 94,180,364 (GRCm39) Y1764N probably damaging Het
Adamtsl1 A T 4: 86,130,928 (GRCm39) D223V probably damaging Het
Agbl1 T C 7: 75,967,868 (GRCm39) V31A possibly damaging Het
Alk T C 17: 72,299,095 (GRCm39) H462R probably benign Het
Atp12a T A 14: 56,613,612 (GRCm39) D461E probably damaging Het
Bcan C A 3: 87,902,950 (GRCm39) C276F probably damaging Het
Crispld2 T C 8: 120,737,410 (GRCm39) S54P possibly damaging Het
Cyp11a1 A T 9: 57,933,987 (GRCm39) N478I probably damaging Het
Des A T 1: 75,340,113 (GRCm39) probably null Het
Dnajc6 A T 4: 101,473,774 (GRCm39) I427F probably benign Het
Eml4 T G 17: 83,753,379 (GRCm39) L281R probably damaging Het
Fam186a T C 15: 99,839,878 (GRCm39) Y2122C probably damaging Het
Fndc11 T A 2: 180,863,459 (GRCm39) L88Q probably damaging Het
Foxo1 A G 3: 52,253,258 (GRCm39) M474V probably benign Het
Gap43 A T 16: 42,112,550 (GRCm39) D70E probably benign Het
Gemin4 T C 11: 76,103,760 (GRCm39) M334V probably benign Het
Gm973 T C 1: 59,667,393 (GRCm39) L718P probably benign Het
Gprin3 G T 6: 59,330,657 (GRCm39) T550N possibly damaging Het
Hddc3 T A 7: 79,993,332 (GRCm39) V53E probably benign Het
Itpr2 A T 6: 146,298,449 (GRCm39) D12E probably null Het
Klri2 T A 6: 129,717,247 (GRCm39) E45D probably damaging Het
Lct A G 1: 128,235,717 (GRCm39) V430A possibly damaging Het
Mcm8 T C 2: 132,673,600 (GRCm39) probably null Het
Mmp12 A G 9: 7,350,050 (GRCm39) T184A possibly damaging Het
Morc3 T C 16: 93,663,330 (GRCm39) V511A probably benign Het
Mta2 T C 19: 8,925,695 (GRCm39) Y397H probably damaging Het
Naa50 G A 16: 43,979,890 (GRCm39) E93K possibly damaging Het
Or14j2 G A 17: 37,885,426 (GRCm39) T296M probably damaging Het
Or2t26 T C 11: 49,039,522 (GRCm39) V146A probably benign Het
Or4a77 T A 2: 89,487,516 (GRCm39) I90F probably damaging Het
Or4c126 T C 2: 89,823,761 (GRCm39) I8T possibly damaging Het
Or4k40 T C 2: 111,250,423 (GRCm39) N291S probably damaging Het
Padi4 A G 4: 140,475,438 (GRCm39) S576P possibly damaging Het
Poglut2 A T 1: 44,153,611 (GRCm39) L221* probably null Het
Prss47 A T 13: 65,197,120 (GRCm39) Y111* probably null Het
Ptprm A G 17: 67,000,857 (GRCm39) V1100A probably damaging Het
Rab11fip3 G A 17: 26,286,843 (GRCm39) P437S possibly damaging Het
Rsph14 C T 10: 74,867,102 (GRCm39) D15N probably benign Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Slco1a1 A G 6: 141,885,743 (GRCm39) V94A probably benign Het
Smpdl3a A G 10: 57,687,358 (GRCm39) E362G possibly damaging Het
Sva A T 6: 42,017,034 (GRCm39) Y47F probably benign Het
Tatdn3 A G 1: 190,788,558 (GRCm39) probably null Het
Tlcd4 A T 3: 121,001,018 (GRCm39) I205K probably damaging Het
Tlcd5 A G 9: 43,024,903 (GRCm39) S18P probably benign Het
Tmem131 G A 1: 36,920,422 (GRCm39) Q93* probably null Het
Trpm7 T C 2: 126,656,665 (GRCm39) E1184G probably damaging Het
Ubr1 T C 2: 120,693,202 (GRCm39) I1735V probably benign Het
Usp40 A T 1: 87,917,872 (GRCm39) I325K probably benign Het
Vmn2r27 T G 6: 124,208,731 (GRCm39) I5L probably benign Het
Wee1 C T 7: 109,738,513 (GRCm39) T542I probably benign Het
Wrn G A 8: 33,726,457 (GRCm39) P1129S probably damaging Het
Zfyve16 G A 13: 92,659,174 (GRCm39) Q246* probably null 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
R4814:Amt UTSW 9 108,176,979 (GRCm39) missense probably benign
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
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'- AAACTGATGGTGACTGGGGC -3'
(R):5'- TTTCTATCTAGCAAGCCCCGG -3'

Sequencing Primer
(F):5'- CCCTGGTGGCACTAAGTCTG -3'
(R):5'- GGAGAGATCAAAGATACATCATCATC -3'
Posted On 2017-07-14