Incidental Mutation 'IGL02936:Mthfd2'
ID 364304
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mthfd2
Ensembl Gene ENSMUSG00000005667
Gene Name methylenetetrahydrofolate dehydrogenase (NAD+ dependent), methenyltetrahydrofolate cyclohydrolase
Synonyms NMDMC
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02936
Quality Score
Status
Chromosome 6
Chromosomal Location 83282673-83302890 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 83288342 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 138 (H138Y)
Ref Sequence ENSEMBL: ENSMUSP00000005810 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005810] [ENSMUST00000203847] [ENSMUST00000204472]
AlphaFold P18155
Predicted Effect probably damaging
Transcript: ENSMUST00000005810
AA Change: H138Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000005810
Gene: ENSMUSG00000005667
AA Change: H138Y

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:THF_DHG_CYH 39 155 8.1e-45 PFAM
Pfam:THF_DHG_CYH_C 158 332 7.7e-65 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139802
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141044
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141193
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203375
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203437
Predicted Effect probably benign
Transcript: ENSMUST00000203847
SMART Domains Protein: ENSMUSP00000145266
Gene: ENSMUSG00000005667

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:THF_DHG_CYH 39 108 2e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204472
SMART Domains Protein: ENSMUSP00000145222
Gene: ENSMUSG00000005667

DomainStartEndE-ValueType
Pfam:THF_DHG_CYH 20 97 2.2e-20 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 a nuclear-encoded mitochondrial bifunctional enzyme with methylenetetrahydrofolate dehydrogenase and methenyltetrahydrofolate cyclohydrolase activities. The enzyme functions as a homodimer and is unique in its absolute requirement for magnesium and inorganic phosphate. Formation of the enzyme-magnesium complex allows binding of NAD. Alternative splicing results in two different transcripts, one protein-coding and the other not protein-coding. This gene has a pseudogene on chromosome 7. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for disruptions in this gene die as embryos before E15.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik G A 9: 57,165,687 (GRCm39) T229I possibly damaging Het
Acad11 T C 9: 103,990,711 (GRCm39) S439P probably benign Het
Acer2 A T 4: 86,818,796 (GRCm39) N148I possibly damaging Het
Adgre1 A G 17: 57,785,833 (GRCm39) I860V probably benign Het
Asb2 A G 12: 103,302,173 (GRCm39) I125T probably benign Het
Atp13a2 G T 4: 140,729,260 (GRCm39) L614F probably benign Het
Car7 A G 8: 105,274,854 (GRCm39) T132A possibly damaging Het
Cfap221 T C 1: 119,912,482 (GRCm39) D135G probably damaging Het
Crtc3 A G 7: 80,239,511 (GRCm39) F614L probably damaging Het
Csn3 T G 5: 88,077,992 (GRCm39) I166S possibly damaging Het
Dna2 T G 10: 62,792,879 (GRCm39) L298R probably damaging Het
Ece1 T C 4: 137,673,612 (GRCm39) S387P probably benign Het
Fbxo28 C T 1: 182,169,093 (GRCm39) G15D unknown Het
Fbxw24 A T 9: 109,454,026 (GRCm39) probably null Het
Foxd3 T A 4: 99,545,052 (GRCm39) V64E probably benign Het
Galnt7 A C 8: 58,037,248 (GRCm39) V47G probably benign Het
Gcc2 A T 10: 58,131,962 (GRCm39) L1453F probably damaging Het
Gcnt4 G A 13: 97,082,919 (GRCm39) V72I probably benign Het
Gm10269 A C 18: 20,816,010 (GRCm39) probably null Het
Hmcn1 T G 1: 150,573,273 (GRCm39) Q2125H probably damaging Het
Iho1 T C 9: 108,289,702 (GRCm39) I173M possibly damaging Het
Llcfc1 T A 6: 41,661,593 (GRCm39) S48T probably benign Het
Met G T 6: 17,553,396 (GRCm39) V1061F probably damaging Het
Mtus1 A T 8: 41,452,554 (GRCm39) D1041E possibly damaging Het
Mug2 G A 6: 122,058,346 (GRCm39) probably null Het
Nos3 C T 5: 24,585,991 (GRCm39) T878I probably damaging Het
Or4c15 A G 2: 88,760,128 (GRCm39) M177T probably benign Het
Or52b1 A T 7: 104,979,212 (GRCm39) Y62* probably null Het
Pbrm1 T A 14: 30,783,470 (GRCm39) V497D probably damaging Het
Plcd1 T C 9: 118,903,267 (GRCm39) E471G probably damaging Het
Poc1a A G 9: 106,162,226 (GRCm39) T84A probably damaging Het
Ppm1f A G 16: 16,733,100 (GRCm39) H209R probably damaging Het
Rccd1 T A 7: 79,966,794 (GRCm39) K329N probably damaging Het
Serpinb9g A T 13: 33,678,865 (GRCm39) N245I possibly damaging Het
Slc22a26 A C 19: 7,768,470 (GRCm39) F196V probably damaging Het
Tial1 G A 7: 128,044,387 (GRCm39) probably benign Het
Trpa1 A T 1: 14,946,193 (GRCm39) probably null Het
Vmn1r15 A T 6: 57,235,803 (GRCm39) K224* probably null Het
Wdr72 A T 9: 74,059,862 (GRCm39) D424V probably damaging Het
Wt1 A G 2: 104,999,384 (GRCm39) K308E probably damaging Het
Zwint T C 10: 72,492,956 (GRCm39) S193P probably damaging Het
Other mutations in Mthfd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01825:Mthfd2 APN 6 83,287,493 (GRCm39) missense probably benign 0.12
IGL01844:Mthfd2 APN 6 83,288,792 (GRCm39) critical splice donor site probably null
R0130:Mthfd2 UTSW 6 83,285,990 (GRCm39) missense probably damaging 0.99
R0862:Mthfd2 UTSW 6 83,290,376 (GRCm39) missense probably damaging 0.99
R1902:Mthfd2 UTSW 6 83,283,713 (GRCm39) missense probably damaging 1.00
R3431:Mthfd2 UTSW 6 83,288,330 (GRCm39) missense probably benign 0.30
R3732:Mthfd2 UTSW 6 83,290,457 (GRCm39) missense probably damaging 1.00
R4473:Mthfd2 UTSW 6 83,287,517 (GRCm39) unclassified probably benign
R5301:Mthfd2 UTSW 6 83,287,465 (GRCm39) missense probably damaging 1.00
R5730:Mthfd2 UTSW 6 83,294,441 (GRCm39) missense probably benign 0.35
R7126:Mthfd2 UTSW 6 83,290,472 (GRCm39) missense probably benign 0.02
R7594:Mthfd2 UTSW 6 83,283,665 (GRCm39) missense probably benign 0.00
R7602:Mthfd2 UTSW 6 83,288,830 (GRCm39) missense probably benign 0.01
R7916:Mthfd2 UTSW 6 83,286,455 (GRCm39) missense possibly damaging 0.79
R9709:Mthfd2 UTSW 6 83,283,665 (GRCm39) missense possibly damaging 0.62
Posted On 2015-12-18