Incidental Mutation 'R0099:Mthfs'
ID 33154
Institutional Source Beutler Lab
Gene Symbol Mthfs
Ensembl Gene ENSMUSG00000066442
Gene Name 5, 10-methenyltetrahydrofolate synthetase
Synonyms 2310020H23Rik, 1110034I12Rik
MMRRC Submission 038385-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0099 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 9
Chromosomal Location 89093243-89122278 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to T at 89108216 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000085256] [ENSMUST00000118870]
AlphaFold Q9D110
Predicted Effect probably benign
Transcript: ENSMUST00000085256
SMART Domains Protein: ENSMUSP00000082354
Gene: ENSMUSG00000066442

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 probably benign
Transcript: ENSMUST00000118870
SMART Domains Protein: ENSMUSP00000112695
Gene: ENSMUSG00000066442

DomainStartEndE-ValueType
Pfam:5-FTHF_cyc-lig 10 128 1.2e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000118887
SMART Domains Protein: ENSMUSP00000112390
Gene: ENSMUSG00000066442

DomainStartEndE-ValueType
Pfam:5-FTHF_cyc-lig 1 70 2.1e-12 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: ENSMUST00000149688
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147644
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186009
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187362
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144930
Predicted Effect probably benign
Transcript: ENSMUST00000185894
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
Validation Efficiency 100% (65/65)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930018M24Rik C T 14: 51,134,179 (GRCm39) probably benign Het
Aadacl2fm1 A C 3: 59,843,856 (GRCm39) K183N probably benign Het
Acad10 A C 5: 121,759,353 (GRCm39) D1043E probably damaging Het
Adamtsl4 C T 3: 95,591,449 (GRCm39) G173R probably benign Het
Astn1 G T 1: 158,329,721 (GRCm39) S192I probably damaging Het
Atg2a T A 19: 6,302,819 (GRCm39) V1010E probably damaging Het
Col11a2 A G 17: 34,268,648 (GRCm39) E311G probably damaging Het
Col4a3 A C 1: 82,695,714 (GRCm39) E1638A probably benign Het
Cstf2t A G 19: 31,061,231 (GRCm39) R256G probably benign Het
Cyp4a12a T C 4: 115,183,869 (GRCm39) L225P probably damaging Het
Dnah5 G A 15: 28,240,080 (GRCm39) R479H probably damaging Het
Dsg3 A G 18: 20,673,079 (GRCm39) I917V probably benign Het
Fam76a G T 4: 132,638,098 (GRCm39) probably benign Het
Fras1 T A 5: 96,762,776 (GRCm39) probably null Het
Gli1 A G 10: 127,171,875 (GRCm39) V293A probably damaging Het
Gm10782 T A 13: 56,510,956 (GRCm39) noncoding transcript Het
Greb1l A G 18: 10,509,158 (GRCm39) E490G probably damaging Het
Hydin G A 8: 111,316,193 (GRCm39) G4362R probably damaging Het
Ica1 A T 6: 8,749,778 (GRCm39) probably benign Het
Ikzf4 T A 10: 128,470,066 (GRCm39) I485F probably damaging Het
Irf5 A G 6: 29,533,966 (GRCm39) T34A probably damaging Het
Krt81 A T 15: 101,361,402 (GRCm39) C59* probably null Het
Kynu T A 2: 43,519,065 (GRCm39) probably null Het
Ly6g6c T C 17: 35,287,891 (GRCm39) V61A probably damaging Het
Manea A C 4: 26,328,104 (GRCm39) I312M probably damaging Het
Micall1 G T 15: 79,016,101 (GRCm39) probably benign Het
Myh4 A G 11: 67,150,173 (GRCm39) T1877A probably benign Het
Myo3a T C 2: 22,250,409 (GRCm39) I92T probably benign Het
Nepn A G 10: 52,277,181 (GRCm39) S306G probably damaging Het
Nol8 T C 13: 49,826,165 (GRCm39) V995A probably benign Het
Or5b101 A G 19: 13,005,165 (GRCm39) F176S probably damaging Het
Or5b105 T A 19: 13,080,504 (GRCm39) T49S probably benign Het
Or8a1b A T 9: 37,622,750 (GRCm39) V275E probably damaging Het
Or8g4 A G 9: 39,661,957 (GRCm39) I92V possibly damaging Het
Pde1a T A 2: 79,698,657 (GRCm39) probably null Het
Phf14 A G 6: 11,987,696 (GRCm39) probably benign Het
Plekhh2 C T 17: 84,899,100 (GRCm39) Q1026* probably null Het
Polr2b T A 5: 77,468,797 (GRCm39) probably benign Het
Ppp1r36 G T 12: 76,483,056 (GRCm39) probably null Het
Prdm14 A T 1: 13,189,169 (GRCm39) C392S probably damaging Het
Rabgap1l A G 1: 160,509,686 (GRCm39) S436P possibly damaging Het
Rfc2 A T 5: 134,624,135 (GRCm39) probably null Het
Rfx4 A T 10: 84,730,168 (GRCm39) M437L probably benign Het
Rgs17 T A 10: 5,792,583 (GRCm39) R74S probably benign Het
Rnf139 C A 15: 58,771,264 (GRCm39) L430I probably damaging Het
Sgsm1 C A 5: 113,422,226 (GRCm39) probably benign Het
Skint6 T A 4: 112,668,698 (GRCm39) T1126S possibly damaging Het
Slc15a2 T C 16: 36,573,398 (GRCm39) E602G probably damaging Het
Stpg2 T C 3: 138,948,954 (GRCm39) probably benign Het
Sycp2l T C 13: 41,283,001 (GRCm39) probably benign Het
Tlr11 A T 14: 50,598,275 (GRCm39) N87I probably benign Het
Tril A G 6: 53,795,348 (GRCm39) F625L probably damaging Het
Ube3c T A 5: 29,812,062 (GRCm39) V434E probably damaging Het
Usp34 G A 11: 23,313,111 (GRCm39) G533R probably damaging Het
Utp25 A G 1: 192,810,778 (GRCm39) L75P probably damaging Het
Zfp93 G T 7: 23,974,900 (GRCm39) R295L probably benign Het
Other mutations in Mthfs
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0090:Mthfs UTSW 9 89,093,344 (GRCm39) missense probably damaging 1.00
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
R6599:Mthfs UTSW 9 89,121,961 (GRCm39) missense probably damaging 1.00
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'- GGCTCCCCAGAGCTGTGATTAAAC -3'
(R):5'- ACTGAACTGCTGTCTGCACACC -3'

Sequencing Primer
(F):5'- agctgtgattaaacacatgcc -3'
(R):5'- TGAATCGTTTCCCACAGAGG -3'
Posted On 2013-05-09