Incidental Mutation 'R5496:Mthfsd'
ID 432353
Institutional Source Beutler Lab
Gene Symbol Mthfsd
Ensembl Gene ENSMUSG00000031816
Gene Name methenyltetrahydrofolate synthetase domain containing
Synonyms
MMRRC Submission 043057-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # R5496 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 121818367-121835131 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 121825553 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 339 (Y339*)
Ref Sequence ENSEMBL: ENSMUSP00000112116 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047282] [ENSMUST00000116415] [ENSMUST00000126431] [ENSMUST00000127664] [ENSMUST00000128052] [ENSMUST00000133037] [ENSMUST00000134758] [ENSMUST00000139782]
AlphaFold Q3URQ7
Predicted Effect probably null
Transcript: ENSMUST00000047282
AA Change: Y320*
SMART Domains Protein: ENSMUSP00000044172
Gene: ENSMUSG00000031816
AA Change: Y320*

DomainStartEndE-ValueType
Pfam:5-FTHF_cyc-lig 1 187 1.1e-31 PFAM
RRM 278 346 2.27e-4 SMART
Predicted Effect probably null
Transcript: ENSMUST00000116415
AA Change: Y339*
SMART Domains Protein: ENSMUSP00000112116
Gene: ENSMUSG00000031816
AA Change: Y339*

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 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 noncoding transcript
Transcript: ENSMUST00000149718
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156606
Predicted Effect probably benign
Transcript: ENSMUST00000134758
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140260
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213028
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133058
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138908
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
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.1%
  • 20x: 90.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a G A 5: 8,724,818 (GRCm39) V84I probably benign Het
Adam10 T G 9: 70,630,021 (GRCm39) F151C probably damaging Het
Akap6 A G 12: 53,187,436 (GRCm39) S1617G possibly damaging Het
Ano6 T A 15: 95,865,495 (GRCm39) probably null Het
Atmin A G 8: 117,683,911 (GRCm39) T524A probably benign Het
Bicra C T 7: 15,721,766 (GRCm39) V584I probably benign Het
Carmil1 G A 13: 24,339,433 (GRCm39) R54C probably damaging Het
Cbln1 A G 8: 88,198,324 (GRCm39) I127T possibly damaging Het
Ccl26 A G 5: 135,592,217 (GRCm39) V40A probably benign Het
Cdh20 T A 1: 109,976,647 (GRCm39) I104N probably damaging Het
Cdt1 C T 8: 123,297,239 (GRCm39) R311W probably damaging Het
Cfap91 A G 16: 38,141,855 (GRCm39) I359T probably damaging Het
Col12a1 A G 9: 79,509,467 (GRCm39) probably benign Het
Csf2rb A G 15: 78,224,761 (GRCm39) E173G probably damaging Het
Cyb561 A G 11: 105,828,545 (GRCm39) Y94H probably damaging Het
Cyp3a16 T A 5: 145,404,341 (GRCm39) K34M probably damaging Het
Diras2 C T 13: 52,661,786 (GRCm39) V174M probably benign Het
Dnah7a T G 1: 53,496,927 (GRCm39) M3110L probably benign Het
Dyrk2 T C 10: 118,695,956 (GRCm39) E434G probably damaging Het
Ebag9 T G 15: 44,503,816 (GRCm39) *214E probably null Het
Egln3 A T 12: 54,250,110 (GRCm39) W80R probably damaging Het
Eps15l1 A G 8: 73,136,619 (GRCm39) Y336H probably benign Het
Gak A G 5: 108,724,483 (GRCm39) S1076P probably benign Het
Glra1 T C 11: 55,418,241 (GRCm39) Y168C probably damaging Het
Glrx2 T A 1: 143,620,945 (GRCm39) M108K probably damaging Het
Gm3604 A T 13: 62,519,393 (GRCm39) S59T possibly damaging Het
Gm8212 A T 14: 44,438,614 (GRCm39) probably benign Het
Gmcl1 G T 6: 86,674,507 (GRCm39) A457D probably damaging Het
H2-M11 T C 17: 36,858,871 (GRCm39) F137S possibly damaging Het
Ighv1-55 C G 12: 115,172,140 (GRCm39) W3S probably damaging Het
Il22 T G 10: 118,041,002 (GRCm39) V36G possibly damaging Het
Ints1 G A 5: 139,740,953 (GRCm39) A1904V probably benign Het
Iqgap2 A G 13: 95,766,561 (GRCm39) Y1481H probably damaging Het
Kcnn3 C T 3: 89,516,797 (GRCm39) A402V possibly damaging Het
Kif18b A T 11: 102,804,568 (GRCm39) I362N possibly damaging Het
Kif5c C G 2: 49,620,202 (GRCm39) A223G possibly damaging Het
Kntc1 A G 5: 123,922,245 (GRCm39) D948G probably benign Het
Krba1 A G 6: 48,383,290 (GRCm39) T229A possibly damaging Het
Leprot T A 4: 101,515,093 (GRCm39) I113N probably damaging Het
Lrp1b T C 2: 40,817,985 (GRCm39) D2415G probably benign Het
Mnd1 T A 3: 83,995,481 (GRCm39) D171V probably damaging Het
Nfatc2 G A 2: 168,378,198 (GRCm39) T268M probably damaging Het
Or14j10 T C 17: 37,935,469 (GRCm39) D19G probably benign Het
Or52d3 G C 7: 104,229,701 (GRCm39) A283P probably damaging Het
Or8h7 G T 2: 86,720,658 (GRCm39) P287Q probably damaging Het
Or8h7 G C 2: 86,720,659 (GRCm39) P287A probably damaging Het
Pan3 G A 5: 147,463,938 (GRCm39) probably null Het
Pde6a A T 18: 61,386,736 (GRCm39) probably null Het
Prss39 T C 1: 34,539,342 (GRCm39) I194T possibly damaging Het
Rfx8 T C 1: 39,709,507 (GRCm39) S507G probably benign Het
Rif1 T C 2: 51,988,928 (GRCm39) S774P probably damaging Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Slc45a2 C T 15: 11,027,871 (GRCm39) T480I probably damaging Het
Smurf1 C A 5: 144,819,403 (GRCm39) E601* probably null Het
Stau2 T C 1: 16,460,245 (GRCm39) S231G probably damaging Het
Timp2 T G 11: 118,194,707 (GRCm39) M161L probably benign Het
Tlr5 T C 1: 182,801,197 (GRCm39) L167P probably damaging Het
Trhr G A 15: 44,060,932 (GRCm39) A151T probably benign Het
Unc13d A G 11: 115,957,534 (GRCm39) V807A probably damaging Het
Usp2 T C 9: 43,996,505 (GRCm39) V7A possibly damaging Het
Uspl1 A G 5: 149,146,589 (GRCm39) T447A probably damaging Het
Zan A G 5: 137,434,607 (GRCm39) I2232T unknown Het
Zfp12 C A 5: 143,230,550 (GRCm39) C292* probably null Het
Zfp850 A C 7: 27,706,771 (GRCm39) M43R probably damaging Het
Zic5 G A 14: 122,696,755 (GRCm39) T620M unknown Het
Other mutations in Mthfsd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00786:Mthfsd APN 8 121,831,207 (GRCm39) missense probably damaging 1.00
IGL03002:Mthfsd APN 8 121,835,018 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- GTCATCACCAATGGCAAACTGTC -3'
(R):5'- ACCACAAACAGGTTCTCGAGG -3'

Sequencing Primer
(F):5'- TGGCAAACTGTCACACGG -3'
(R):5'- ACAGGTTCTCGAGGAGGGTC -3'
Posted On 2016-10-05