Incidental Mutation 'IGL00786:Mthfsd'
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ID13623
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mthfsd
Ensembl Gene ENSMUSG00000031816
Gene Namemethenyltetrahydrofolate synthetase domain containing
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.087) question?
Stock #IGL00786
Quality Score
Status
Chromosome8
Chromosomal Location121091628-121108392 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 121104468 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glutamine at position 91 (R91Q)
Ref Sequence ENSEMBL: ENSMUSP00000112116 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047282] [ENSMUST00000116415] [ENSMUST00000126431] [ENSMUST00000127664] [ENSMUST00000128052] [ENSMUST00000133037] [ENSMUST00000134758] [ENSMUST00000139782] [ENSMUST00000151576]
Predicted Effect probably damaging
Transcript: ENSMUST00000047282
AA Change: R72Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044172
Gene: ENSMUSG00000031816
AA Change: R72Q

DomainStartEndE-ValueType
Pfam:5-FTHF_cyc-lig 1 187 1.1e-31 PFAM
RRM 278 346 2.27e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000116415
AA Change: R91Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112116
Gene: ENSMUSG00000031816
AA Change: R91Q

DomainStartEndE-ValueType
Pfam:5-FTHF_cyc-lig 9 206 2.3e-36 PFAM
RRM 297 365 2.27e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000126431
AA Change: R163Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119673
Gene: ENSMUSG00000031816
AA Change: R163Q

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 damaging
Transcript: ENSMUST00000133037
AA Change: R91Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117429
Gene: ENSMUSG00000031816
AA Change: R91Q

DomainStartEndE-ValueType
Pfam:5-FTHF_cyc-lig 9 206 7.8e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133058
Predicted Effect probably benign
Transcript: ENSMUST00000134758
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138908
Predicted Effect probably damaging
Transcript: ENSMUST00000139782
AA Change: R72Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115382
Gene: ENSMUSG00000031816
AA Change: R72Q

DomainStartEndE-ValueType
Pfam:5-FTHF_cyc-lig 1 187 2.1e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140260
Predicted Effect probably benign
Transcript: ENSMUST00000151576
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145991
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156606
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213028
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149718
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik T C 2: 35,375,839 N242S probably benign Het
Akap9 C A 5: 4,070,522 A3646E probably damaging Het
Akt1 C A 12: 112,657,671 G233V probably damaging Het
B3gat3 A G 19: 8,926,785 E320G probably benign Het
Bpifa5 G A 2: 154,167,252 C238Y probably damaging Het
Camkmt T C 17: 85,096,491 V47A probably damaging Het
Ccnl2 C T 4: 155,820,880 R284W probably damaging Het
Chl1 G T 6: 103,675,145 V341F probably damaging Het
Cst3 A T 2: 148,872,877 C93* probably null Het
Ctsh T C 9: 90,064,238 V119A probably damaging Het
Dmap1 C T 4: 117,676,396 R225Q possibly damaging Het
Ehbp1 A G 11: 22,100,460 S479P possibly damaging Het
Eml2 A G 7: 19,202,582 Y528C probably damaging Het
Faim G A 9: 98,992,165 G15R probably damaging Het
G6pc3 A G 11: 102,193,105 M186V probably benign Het
Gpr37 A G 6: 25,669,318 V509A possibly damaging Het
Heatr5b G T 17: 78,824,634 H347N possibly damaging Het
Idh1 A G 1: 65,166,243 S188P probably damaging Het
Mphosph8 T C 14: 56,672,544 V118A probably benign Het
Otor G A 2: 143,079,926 V86I probably damaging Het
Pdk2 T A 11: 95,031,935 T140S probably benign Het
Pnliprp2 A G 19: 58,760,497 N78S probably benign Het
Rimbp3 C T 16: 17,211,688 T992M probably damaging Het
Sdad1 A T 5: 92,303,773 probably null Het
Sidt2 A G 9: 45,949,803 S71P possibly damaging Het
Slc44a2 T A 9: 21,345,935 V390E probably damaging Het
Tmem168 T C 6: 13,602,675 I231V probably benign Het
Uhrf1bp1 T A 17: 27,879,292 I136N probably damaging Het
Vim T C 2: 13,578,510 probably null Het
Other mutations in Mthfsd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03002:Mthfsd APN 8 121108279 splice site probably benign
R0076:Mthfsd UTSW 8 121098739 missense probably benign 0.04
R0416:Mthfsd UTSW 8 121101237 missense probably damaging 1.00
R0745:Mthfsd UTSW 8 121102949 missense probably damaging 1.00
R2157:Mthfsd UTSW 8 121101501 missense probably damaging 1.00
R2851:Mthfsd UTSW 8 121105773 missense probably benign 0.38
R3439:Mthfsd UTSW 8 121099121 missense possibly damaging 0.89
R4207:Mthfsd UTSW 8 121105626 missense probably damaging 1.00
R4456:Mthfsd UTSW 8 121105765 missense possibly damaging 0.89
R4757:Mthfsd UTSW 8 121098998 critical splice donor site probably null
R5154:Mthfsd UTSW 8 121098740 missense probably damaging 1.00
R5208:Mthfsd UTSW 8 121108319 unclassified probably benign
R5496:Mthfsd UTSW 8 121098814 nonsense probably null
R6652:Mthfsd UTSW 8 121098821 missense probably damaging 1.00
R7309:Mthfsd UTSW 8 121108331 unclassified probably benign
R7538:Mthfsd UTSW 8 121098786 missense probably benign 0.41
R8072:Mthfsd UTSW 8 121098816 missense probably damaging 1.00
Posted On2012-12-06