Incidental Mutation 'IGL03077:Ftcd'
ID 417734
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ftcd
Ensembl Gene ENSMUSG00000001155
Gene Name formiminotransferase cyclodeaminase
Synonyms glutamate formiminotransferase
Accession Numbers
Essential gene? Probably non essential (E-score: 0.197) question?
Stock # IGL03077
Quality Score
Status
Chromosome 10
Chromosomal Location 76411482-76426172 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 76417461 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 300 (I300T)
Ref Sequence ENSEMBL: ENSMUSP00000001183 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001183]
AlphaFold Q91XD4
Predicted Effect probably damaging
Transcript: ENSMUST00000001183
AA Change: I300T

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000001183
Gene: ENSMUSG00000001155
AA Change: I300T

DomainStartEndE-ValueType
FTCD_N 3 180 1.6e-120 SMART
FTCD 181 325 6.92e-93 SMART
Pfam:FTCD_C 339 520 1.3e-68 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137347
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a bifunctional enzyme that channels 1-carbon units from formiminoglutamate, a metabolite of the histidine degradation pathway, to the folate pool. Mutations in this gene are associated with glutamate formiminotransferase deficiency. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Dec 2009]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 A G 17: 84,999,308 (GRCm39) N135D probably damaging Het
Ak4 T C 4: 101,277,148 (GRCm39) L44P probably damaging Het
Angpt1 C A 15: 42,339,818 (GRCm39) G298* probably null Het
Appl2 C T 10: 83,457,623 (GRCm39) probably benign Het
Arhgap19 T A 19: 41,769,760 (GRCm39) H341L probably benign Het
Chmp5 T C 4: 40,952,438 (GRCm39) S98P probably benign Het
Chp1 A T 2: 119,415,081 (GRCm39) Q161L probably benign Het
Clgn T C 8: 84,150,769 (GRCm39) V478A probably benign Het
Cplane1 G A 15: 8,242,279 (GRCm39) probably benign Het
Cyp2b19 A T 7: 26,461,809 (GRCm39) M210L probably benign Het
Eif4g3 T A 4: 137,853,166 (GRCm39) V244D probably damaging Het
Gm12886 C T 4: 121,272,697 (GRCm39) probably benign Het
Klrb1f A T 6: 129,030,765 (GRCm39) E92V probably null Het
Krt23 A G 11: 99,374,700 (GRCm39) probably benign Het
Mib2 T G 4: 155,743,900 (GRCm39) R47S probably benign Het
Mindy4 A G 6: 55,286,315 (GRCm39) T728A probably damaging Het
Myh15 A G 16: 48,916,901 (GRCm39) N407S probably benign Het
Nlrp4f A G 13: 65,342,412 (GRCm39) V411A probably benign Het
Or10ag56 T C 2: 87,140,056 (GRCm39) *328Q probably null Het
Or4c12b A C 2: 89,647,486 (GRCm39) D266A probably damaging Het
Otud4 T G 8: 80,400,087 (GRCm39) S934A probably damaging Het
P3h1 C T 4: 119,093,983 (GRCm39) R213W probably damaging Het
Phrf1 A T 7: 140,834,881 (GRCm39) K19* probably null Het
Prl3b1 A T 13: 27,429,759 (GRCm39) M66L probably benign Het
Psmd7 T C 8: 108,309,099 (GRCm39) T149A probably benign Het
Samd4b T C 7: 28,105,868 (GRCm39) D450G probably damaging Het
Scn3a G A 2: 65,367,016 (GRCm39) A2V probably damaging Het
Snrpa G A 7: 26,891,186 (GRCm39) T95I probably benign Het
Traip A G 9: 107,840,125 (GRCm39) probably benign Het
Trbc1 T A 6: 41,515,383 (GRCm39) probably benign Het
Trim72 A T 7: 127,607,013 (GRCm39) M181L probably benign Het
Ttc41 T C 10: 86,594,212 (GRCm39) Y882H probably damaging Het
Vmn1r191 A C 13: 22,363,316 (GRCm39) I146S probably benign Het
Vmn2r9 G T 5: 108,996,173 (GRCm39) probably benign Het
Vps13a A G 19: 16,688,246 (GRCm39) S854P probably benign Het
Wdfy1 T C 1: 79,692,622 (GRCm39) K232E possibly damaging Het
Xpr1 A T 1: 155,156,774 (GRCm39) D625E possibly damaging Het
Zbbx T A 3: 74,989,153 (GRCm39) T317S possibly damaging Het
Other mutations in Ftcd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01468:Ftcd APN 10 76,420,421 (GRCm39) missense probably benign 0.03
IGL01683:Ftcd APN 10 76,415,963 (GRCm39) missense probably damaging 1.00
IGL02478:Ftcd APN 10 76,417,255 (GRCm39) nonsense probably null
IGL02664:Ftcd APN 10 76,420,439 (GRCm39) missense probably damaging 0.98
R1199:Ftcd UTSW 10 76,415,653 (GRCm39) missense probably damaging 1.00
R1771:Ftcd UTSW 10 76,423,202 (GRCm39) missense probably damaging 0.98
R1876:Ftcd UTSW 10 76,417,403 (GRCm39) missense probably benign 0.26
R2260:Ftcd UTSW 10 76,423,893 (GRCm39) splice site probably null
R2386:Ftcd UTSW 10 76,417,211 (GRCm39) missense probably damaging 1.00
R4578:Ftcd UTSW 10 76,425,092 (GRCm39) missense probably benign
R4951:Ftcd UTSW 10 76,420,517 (GRCm39) missense probably benign 0.15
R5479:Ftcd UTSW 10 76,413,850 (GRCm39) missense probably benign 0.00
R5524:Ftcd UTSW 10 76,425,165 (GRCm39) utr 3 prime probably benign
R5567:Ftcd UTSW 10 76,423,967 (GRCm39) missense probably benign 0.20
R5655:Ftcd UTSW 10 76,423,937 (GRCm39) missense probably damaging 1.00
R6776:Ftcd UTSW 10 76,425,073 (GRCm39) missense probably benign 0.09
R7449:Ftcd UTSW 10 76,415,997 (GRCm39) missense probably benign 0.02
R8183:Ftcd UTSW 10 76,411,541 (GRCm39) start codon destroyed probably null 1.00
R8250:Ftcd UTSW 10 76,417,461 (GRCm39) missense probably damaging 1.00
R8284:Ftcd UTSW 10 76,413,893 (GRCm39) missense probably benign 0.25
R9023:Ftcd UTSW 10 76,417,413 (GRCm39) missense probably damaging 1.00
R9207:Ftcd UTSW 10 76,422,973 (GRCm39) missense probably benign
R9417:Ftcd UTSW 10 76,417,153 (GRCm39) missense probably damaging 0.99
Posted On 2016-08-02