Incidental Mutation 'IGL03002:Mthfsd'
ID 407407
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mthfsd
Ensembl Gene ENSMUSG00000031816
Gene Name methenyltetrahydrofolate synthetase domain containing
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # IGL03002
Quality Score
Status
Chromosome 8
Chromosomal Location 121818367-121835131 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 121835018 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148598 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047282] [ENSMUST00000116415] [ENSMUST00000126431] [ENSMUST00000127664] [ENSMUST00000128052] [ENSMUST00000133037] [ENSMUST00000151576] [ENSMUST00000134758] [ENSMUST00000139782]
AlphaFold Q3URQ7
Predicted Effect probably benign
Transcript: ENSMUST00000047282
SMART Domains Protein: ENSMUSP00000044172
Gene: ENSMUSG00000031816

DomainStartEndE-ValueType
Pfam:5-FTHF_cyc-lig 1 187 1.1e-31 PFAM
RRM 278 346 2.27e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000116415
SMART Domains Protein: ENSMUSP00000112116
Gene: ENSMUSG00000031816

DomainStartEndE-ValueType
Pfam:5-FTHF_cyc-lig 9 206 2.3e-36 PFAM
RRM 297 365 2.27e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000126431
SMART Domains Protein: ENSMUSP00000119673
Gene: ENSMUSG00000031816

DomainStartEndE-ValueType
low complexity region 44 54 N/A INTRINSIC
Pfam:5-FTHF_cyc-lig 81 278 5.2e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000128052
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128503
Predicted Effect probably benign
Transcript: ENSMUST00000133037
SMART Domains Protein: ENSMUSP00000117429
Gene: ENSMUSG00000031816

DomainStartEndE-ValueType
Pfam:5-FTHF_cyc-lig 9 206 7.8e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000151576
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149718
Predicted Effect probably benign
Transcript: ENSMUST00000134758
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138908
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145991
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156606
Predicted Effect probably benign
Transcript: ENSMUST00000139782
SMART Domains Protein: ENSMUSP00000115382
Gene: ENSMUSG00000031816

DomainStartEndE-ValueType
Pfam:5-FTHF_cyc-lig 1 187 2.1e-29 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadl T C 1: 66,876,128 (GRCm39) I398V probably benign Het
Adcy4 A T 14: 56,011,013 (GRCm39) C635S probably benign Het
Aoc1l3 A G 6: 48,964,052 (GRCm39) H20R probably benign Het
Asic4 C A 1: 75,427,967 (GRCm39) D164E possibly damaging Het
C8g T A 2: 25,388,823 (GRCm39) *203L probably null Het
Cad T C 5: 31,212,330 (GRCm39) V11A probably benign Het
Cckar T C 5: 53,860,247 (GRCm39) N194S probably damaging Het
Cdc123 T C 2: 5,803,166 (GRCm39) probably benign Het
Chrm5 T C 2: 112,310,706 (GRCm39) T137A probably damaging Het
Cyp1a1 A G 9: 57,609,724 (GRCm39) probably benign Het
Dapk3 G T 10: 81,026,437 (GRCm39) E187* probably null Het
Dmtf1 T C 5: 9,190,474 (GRCm39) E80G probably damaging Het
Dusp19 T A 2: 80,461,279 (GRCm39) N189K probably damaging Het
Gfral A G 9: 76,104,520 (GRCm39) V164A possibly damaging Het
Hk1 A T 10: 62,107,578 (GRCm39) V799E probably damaging Het
Iars2 C T 1: 185,055,013 (GRCm39) probably null Het
Jcad T A 18: 4,675,153 (GRCm39) Y972N probably benign Het
Lrp1 A T 10: 127,425,505 (GRCm39) D708E probably damaging Het
Mbtd1 T A 11: 93,815,316 (GRCm39) H301Q probably benign Het
Med12 A G X: 100,339,461 (GRCm39) T2004A probably benign Het
Mib1 T C 18: 10,798,356 (GRCm39) I739T possibly damaging Het
Mybpc3 T G 2: 90,954,234 (GRCm39) F369C probably damaging Het
Nfatc2 C T 2: 168,376,904 (GRCm39) V329M probably damaging Het
Ngef A T 1: 87,437,114 (GRCm39) probably null Het
Nlrp1b T C 11: 71,059,685 (GRCm39) E759G probably benign Het
Or10aa3 C A 1: 173,878,191 (GRCm39) T84N probably benign Het
Prdm4 T C 10: 85,729,016 (GRCm39) E790G probably benign Het
Psmd12 A G 11: 107,376,607 (GRCm39) D81G probably benign Het
Rnf144b A G 13: 47,396,359 (GRCm39) H232R probably damaging Het
Sec63 C T 10: 42,686,905 (GRCm39) T475M possibly damaging Het
Slc16a4 A T 3: 107,208,102 (GRCm39) N204I probably benign Het
Socs1 T C 16: 10,602,404 (GRCm39) N111S probably damaging Het
Srpra A G 9: 35,126,017 (GRCm39) N432D probably damaging Het
Srrm2 A G 17: 24,034,708 (GRCm39) probably benign Het
Tgoln1 A G 6: 72,593,055 (GRCm39) S142P possibly damaging Het
Trbv13-1 A G 6: 41,093,169 (GRCm39) N34S probably benign Het
Vmn2r26 T C 6: 124,016,754 (GRCm39) V406A possibly damaging Het
Vsig1 G T X: 139,827,088 (GRCm39) G79V probably damaging Het
Other mutations in Mthfsd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00786:Mthfsd APN 8 121,831,207 (GRCm39) missense probably damaging 1.00
R0076:Mthfsd UTSW 8 121,825,478 (GRCm39) missense probably benign 0.04
R0416:Mthfsd UTSW 8 121,827,976 (GRCm39) missense probably damaging 1.00
R0745:Mthfsd UTSW 8 121,829,688 (GRCm39) missense probably damaging 1.00
R2157:Mthfsd UTSW 8 121,828,240 (GRCm39) missense probably damaging 1.00
R2851:Mthfsd UTSW 8 121,832,512 (GRCm39) missense probably benign 0.38
R3439:Mthfsd UTSW 8 121,825,860 (GRCm39) missense possibly damaging 0.89
R4207:Mthfsd UTSW 8 121,832,365 (GRCm39) missense probably damaging 1.00
R4456:Mthfsd UTSW 8 121,832,504 (GRCm39) missense possibly damaging 0.89
R4757:Mthfsd UTSW 8 121,825,737 (GRCm39) critical splice donor site probably null
R5154:Mthfsd UTSW 8 121,825,479 (GRCm39) missense probably damaging 1.00
R5208:Mthfsd UTSW 8 121,835,058 (GRCm39) unclassified probably benign
R5496:Mthfsd UTSW 8 121,825,553 (GRCm39) nonsense probably null
R6652:Mthfsd UTSW 8 121,825,560 (GRCm39) missense probably damaging 1.00
R7309:Mthfsd UTSW 8 121,835,070 (GRCm39) unclassified probably benign
R7538:Mthfsd UTSW 8 121,825,525 (GRCm39) missense probably benign 0.41
R8072:Mthfsd UTSW 8 121,825,555 (GRCm39) missense probably damaging 1.00
R9759:Mthfsd UTSW 8 121,824,615 (GRCm39) missense probably benign 0.01
Posted On 2016-08-02