Incidental Mutation 'R7658:Amt'
ID 591369
Institutional Source Beutler Lab
Gene Symbol Amt
Ensembl Gene ENSMUSG00000032607
Gene Name aminomethyltransferase
Synonyms EG434437
MMRRC Submission 045703-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7658 (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 C at 108174430 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Proline at position 65 (H65P)
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: H65P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000035230
Gene: ENSMUSG00000032607
AA Change: H65P

Pfam:GCV_T 38 291 7.8e-86 PFAM
Pfam:GCV_T_C 300 392 1.6e-23 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110025L11Rik G T 16: 88,860,618 (GRCm39) S72Y unknown Het
Abca8b T A 11: 109,826,543 (GRCm39) K1568N probably benign Het
Adcy6 T A 15: 98,493,948 (GRCm39) Y865F probably benign Het
Adgrf3 A T 5: 30,402,204 (GRCm39) V608D probably benign Het
Agbl1 G T 7: 76,416,117 (GRCm39) A965S unknown Het
Agbl3 C T 6: 34,809,443 (GRCm39) P690L probably benign Het
Akap9 C G 5: 4,018,745 (GRCm39) H1109D probably benign Het
Ankrd11 T A 8: 123,620,403 (GRCm39) T1150S probably benign Het
Arhgap15 A C 2: 44,032,280 (GRCm39) H288P probably benign Het
Arhgap39 A T 15: 76,621,617 (GRCm39) M328K probably benign Het
Arhgef12 T C 9: 42,903,832 (GRCm39) K743R probably damaging Het
Atg2a T G 19: 6,301,293 (GRCm39) V789G probably damaging Het
Ccdc54 T C 16: 50,410,844 (GRCm39) T141A probably benign Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Cdh5 T C 8: 104,856,033 (GRCm39) probably null Het
Cdkl3 T C 11: 51,918,009 (GRCm39) V404A not run Het
Chrm2 A T 6: 36,500,184 (GRCm39) I14F probably benign Het
Cnbp T C 6: 87,822,258 (GRCm39) K89E possibly damaging Het
Cntn6 T A 6: 104,627,444 (GRCm39) D92E probably benign Het
Col15a1 T C 4: 47,245,591 (GRCm39) F114S possibly damaging Het
Csrnp1 A G 9: 119,801,469 (GRCm39) F530S probably benign Het
Dcun1d3 C T 7: 119,456,891 (GRCm39) V274M probably damaging Het
Dph2 T A 4: 117,747,478 (GRCm39) H302L possibly damaging Het
Fam162a A T 16: 35,866,770 (GRCm39) Y118* probably null Het
Fam186a A G 15: 99,837,725 (GRCm39) Y2840H unknown Het
Fto A G 8: 92,392,950 (GRCm39) K466E probably benign Het
Gal T A 19: 3,463,309 (GRCm39) Y41F probably damaging Het
Gigyf2 A T 1: 87,346,860 (GRCm39) L620F unknown Het
Git2 C T 5: 114,904,550 (GRCm39) R123H probably damaging Het
Glud1 A T 14: 34,033,114 (GRCm39) E87V probably benign Het
Gm21190 T G 5: 15,732,923 (GRCm39) E94A possibly damaging Het
Gm5592 T C 7: 40,938,134 (GRCm39) V472A probably benign Het
Gpc5 T A 14: 115,665,620 (GRCm39) N481K possibly damaging Het
Gpn2 A G 4: 133,318,687 (GRCm39) E304G probably benign Het
Gsdmc2 T C 15: 63,696,903 (GRCm39) T423A probably damaging Het
Gucy2e G A 11: 69,117,055 (GRCm39) Q789* probably null Het
Gxylt2 T A 6: 100,760,104 (GRCm39) V213E probably damaging Het
Ighv1-75 G A 12: 115,797,731 (GRCm39) L64F possibly damaging Het
Il17re T C 6: 113,435,943 (GRCm39) C30R probably benign Het
Il7 G T 3: 7,669,142 (GRCm39) D31E probably benign Het
Ints4 T C 7: 97,178,460 (GRCm39) Y687H possibly damaging Het
Kdelr1 T G 7: 45,532,401 (GRCm39) V202G probably benign Het
Khnyn C A 14: 56,124,596 (GRCm39) Y283* probably null Het
Klf11 T C 12: 24,703,670 (GRCm39) V52A probably damaging Het
Klhl7 A G 5: 24,346,284 (GRCm39) N310S probably benign Het
Krt27 A T 11: 99,240,312 (GRCm39) L202Q possibly damaging Het
Lce1d A G 3: 92,593,354 (GRCm39) C20R unknown Het
Lim2 A T 7: 43,083,054 (GRCm39) I80F possibly damaging Het
Lrrk2 T A 15: 91,584,561 (GRCm39) F326Y possibly damaging Het
Lyst A T 13: 13,905,061 (GRCm39) Y3246F possibly damaging Het
Mafb T A 2: 160,208,355 (GRCm39) H81L possibly damaging Het
Mfsd5 G A 15: 102,189,312 (GRCm39) R228H probably benign Het
Mmp1b A T 9: 7,386,675 (GRCm39) F150I possibly damaging Het
Mthfd1 T A 12: 76,317,209 (GRCm39) L20Q probably damaging Het
Mxra8 A G 4: 155,927,420 (GRCm39) T402A probably benign Het
Ndc80 A T 17: 71,815,658 (GRCm39) L376M probably damaging Het
Nsd1 A T 13: 55,425,452 (GRCm39) R1536S probably damaging Het
Nup210l C A 3: 90,119,300 (GRCm39) H1874Q probably benign Het
Nyap1 T C 5: 137,731,236 (GRCm39) H776R probably benign Het
Patj C A 4: 98,576,416 (GRCm39) H1773Q probably damaging Het
Pax8 T A 2: 24,326,523 (GRCm39) T280S probably benign Het
Pcdhb19 A G 18: 37,632,034 (GRCm39) T610A probably damaging Het
Pde2a A G 7: 101,160,788 (GRCm39) D919G possibly damaging Het
Pdk2 T A 11: 94,919,791 (GRCm39) Y240F probably damaging Het
Peg3 A T 7: 6,712,609 (GRCm39) I871N probably damaging Het
Pex1 A T 5: 3,646,244 (GRCm39) probably benign Het
Pgm2l1 C T 7: 99,899,535 (GRCm39) R50W probably damaging Het
Phkg1 T A 5: 129,894,764 (GRCm39) K262N probably damaging Het
Pik3r4 A G 9: 105,521,710 (GRCm39) E92G probably damaging Het
Prmt6 A T 3: 110,157,701 (GRCm39) V196E possibly damaging Het
Ptprn2 T G 12: 116,685,739 (GRCm39) M66R probably benign Het
Rai14 C T 15: 10,593,189 (GRCm39) G152R probably damaging Het
Recql5 A T 11: 115,814,102 (GRCm39) S348T probably damaging Het
Rfk T G 19: 17,376,046 (GRCm39) probably null Het
Ro60 T C 1: 143,646,611 (GRCm39) T45A probably damaging Het
Selenbp1 A T 3: 94,851,413 (GRCm39) M389L probably benign Het
Sipa1l2 G A 8: 126,219,029 (GRCm39) R103C probably benign Het
Slc10a6 T A 5: 103,777,056 (GRCm39) S15C probably damaging Het
Slc12a2 G T 18: 58,065,596 (GRCm39) V944L probably benign Het
Slc16a11 T A 11: 70,106,143 (GRCm39) L127Q possibly damaging Het
Spef1l T C 7: 139,556,531 (GRCm39) N152S probably benign Het
St6gal1 A G 16: 23,174,978 (GRCm39) Y272C probably damaging Het
Stab2 C A 10: 86,816,999 (GRCm39) V133F probably benign Het
Stradb G A 1: 59,031,885 (GRCm39) V266I probably damaging Het
Tmem150b A G 7: 4,723,758 (GRCm39) W140R probably benign Het
Tnnt3 A T 7: 142,065,833 (GRCm39) K157* probably null Het
Ttn T G 2: 76,554,113 (GRCm39) K30863N probably damaging Het
Vldlr G A 19: 27,220,536 (GRCm39) R592H probably benign Het
Vmn1r12 A T 6: 57,135,883 (GRCm39) probably benign Het
Vmn2r63 A C 7: 42,574,693 (GRCm39) S519R probably damaging Het
Zbtb22 G C 17: 34,137,471 (GRCm39) E539Q probably damaging Het
Zbtb44 G A 9: 30,965,375 (GRCm39) A262T probably benign Het
Zfp280d A T 9: 72,231,354 (GRCm39) N455I probably damaging Het
Zfp287 T C 11: 62,616,089 (GRCm39) N201D probably damaging Het
Zfp988 T C 4: 147,416,751 (GRCm39) L395P probably 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
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
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
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

Sequencing Primer
Posted On 2019-11-12