Incidental Mutation 'R6599:Mthfs'
ID 525129
Institutional Source Beutler Lab
Gene Symbol Mthfs
Ensembl Gene ENSMUSG00000066442
Gene Name 5, 10-methenyltetrahydrofolate synthetase
Synonyms 2310020H23Rik, 1110034I12Rik
MMRRC Submission 044723-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6599 (G1)
Quality Score 124.008
Status Not validated
Chromosome 9
Chromosomal Location 89093243-89122278 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 89121961 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 149 (G149D)
Ref Sequence ENSEMBL: ENSMUSP00000082354 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085256]
AlphaFold Q9D110
Predicted Effect probably damaging
Transcript: ENSMUST00000085256
AA Change: G149D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000082354
Gene: ENSMUSG00000066442
AA Change: G149D

DomainStartEndE-ValueType
Pfam:5-FTHF_cyc-lig 10 198 4.2e-64 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000117314
SMART Domains Protein: ENSMUSP00000112854
Gene: ENSMUSG00000066442

DomainStartEndE-ValueType
Pfam:5-FTHF_cyc-lig 1 141 1.6e-45 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127438
SMART Domains Protein: ENSMUSP00000122036
Gene: ENSMUSG00000066442

DomainStartEndE-ValueType
Pfam:5-FTHF_cyc-lig 1 70 2.8e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127868
SMART Domains Protein: ENSMUSP00000118531
Gene: ENSMUSG00000066442

DomainStartEndE-ValueType
Pfam:5-FTHF_cyc-lig 1 113 2.2e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144930
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147644
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149688
Predicted Effect probably benign
Transcript: ENSMUST00000185894
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186009
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187362
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 95.9%
Validation Efficiency 94% (32/34)
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trap allele display embryonic lethality. Heterozygous mice display decreased de novo purine synthesis and reduced plasma folate levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579F01Rik T C 3: 137,882,250 (GRCm39) H150R probably benign Het
Acbd5 C T 2: 22,959,092 (GRCm39) probably benign Het
Adcyap1r1 G A 6: 55,456,979 (GRCm39) V237M probably damaging Het
Akr1c6 T G 13: 4,499,318 (GRCm39) probably null Het
Ccdc7b T A 8: 129,893,462 (GRCm39) F96L probably benign Het
Cubn T C 2: 13,315,484 (GRCm39) H2983R possibly damaging Het
Dhx40 T A 11: 86,695,175 (GRCm39) I112L possibly damaging Het
Dnmbp A T 19: 43,845,025 (GRCm39) D1070E probably damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Ep300 G C 15: 81,470,914 (GRCm39) D29H unknown Het
Exoc3 T C 13: 74,337,277 (GRCm39) probably null Het
Fcsk A T 8: 111,619,915 (GRCm39) probably null Het
Gm6401 C A 14: 41,788,821 (GRCm39) E83* probably null Het
Gm8267 G T 14: 44,955,367 (GRCm39) T218K possibly damaging Het
H1f3 T C 13: 23,739,451 (GRCm39) probably null Het
Hif3a T A 7: 16,776,530 (GRCm39) D470V possibly damaging Het
Igf2r T C 17: 12,917,505 (GRCm39) S1526G possibly damaging Het
Lrp2 T C 2: 69,299,749 (GRCm39) D3101G probably damaging Het
Megf6 A G 4: 154,342,544 (GRCm39) probably null Het
Nnmt T C 9: 48,514,669 (GRCm39) D116G probably benign Het
Nqo2 T C 13: 34,163,539 (GRCm39) F22S probably damaging Het
Or1e29 T A 11: 73,667,506 (GRCm39) M216L probably benign Het
Or7e175 T C 9: 20,049,239 (GRCm39) S276P probably damaging Het
Parm1 T C 5: 91,741,718 (GRCm39) S29P possibly damaging Het
Prokr2 C T 2: 132,215,469 (GRCm39) V331M possibly damaging Het
Ptch1 T A 13: 63,670,918 (GRCm39) I871F probably damaging Het
Rps6ka5 C A 12: 100,564,168 (GRCm39) G227V probably damaging Het
Tcaim C T 9: 122,663,844 (GRCm39) Q445* probably null Het
Trappc14 G T 5: 138,261,720 (GRCm39) probably null Het
Trpc7 T C 13: 56,958,193 (GRCm39) probably null Het
Ubxn7 A G 16: 32,203,743 (GRCm39) E465G probably damaging Het
Unk G A 11: 115,938,628 (GRCm39) R77Q probably damaging Het
Vmn1r226 A T 17: 20,908,551 (GRCm39) N261I probably benign Het
Vmn1r87 T A 7: 12,865,886 (GRCm39) K134* probably null Het
Vmn2r10 T A 5: 109,143,944 (GRCm39) I669L probably benign Het
Vmn2r115 A G 17: 23,565,006 (GRCm39) I298V probably benign Het
Yipf2 T C 9: 21,501,144 (GRCm39) K85E probably damaging Het
Zfp979 A T 4: 147,698,083 (GRCm39) C209S probably benign Het
Other mutations in Mthfs
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0090:Mthfs UTSW 9 89,093,344 (GRCm39) missense probably damaging 1.00
R0099:Mthfs UTSW 9 89,108,216 (GRCm39) intron probably benign
R0837:Mthfs UTSW 9 89,097,443 (GRCm39) missense probably damaging 1.00
R2047:Mthfs UTSW 9 89,097,356 (GRCm39) missense probably damaging 1.00
R4796:Mthfs UTSW 9 89,122,078 (GRCm39) missense probably benign 0.01
R8068:Mthfs UTSW 9 89,093,288 (GRCm39) missense probably damaging 1.00
R9053:Mthfs UTSW 9 89,097,454 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCAGGACTAACAACGTTGCTG -3'
(R):5'- GTAACTTAGGATGCTGGGGAATC -3'

Sequencing Primer
(F):5'- CAACGTTGCTGAAGAATTATTCCC -3'
(R):5'- GCTGGGGAATCTTCATAAAGGACTTC -3'
Posted On 2018-06-22