Incidental Mutation 'IGL01468:Ftcd'
ID88162
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ftcd
Ensembl Gene ENSMUSG00000001155
Gene Nameformiminotransferase cyclodeaminase
Synonymsglutamate formiminotransferase
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.174) question?
Stock #IGL01468
Quality Score
Status
Chromosome10
Chromosomal Location76575648-76590338 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 76584587 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 385 (D385G)
Ref Sequence ENSEMBL: ENSMUSP00000001183 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001183]
Predicted Effect probably benign
Transcript: ENSMUST00000001183
AA Change: D385G

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000001183
Gene: ENSMUSG00000001155
AA Change: D385G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146344
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 G A 10: 80,003,877 V781I probably benign Het
Aldh5a1 G T 13: 24,911,553 probably benign Het
Arhgap12 T C 18: 6,057,576 T435A probably benign Het
Atrnl1 G A 19: 57,699,712 V870I probably benign Het
Cerkl A T 2: 79,343,215 probably null Het
Cntnap2 T A 6: 47,271,371 L13* probably null Het
Cr2 G A 1: 195,168,535 P208S probably damaging Het
Dapk1 A G 13: 60,760,798 D1075G probably benign Het
Dhx57 T A 17: 80,255,610 K863* probably null Het
Dnaaf5 C A 5: 139,151,480 probably null Het
Fbxw7 T A 3: 84,972,499 I336K probably benign Het
Gm10153 T C 7: 142,190,041 S117G unknown Het
Gzmb T C 14: 56,260,315 Y156C probably benign Het
Herc3 T A 6: 58,854,895 D83E probably benign Het
Kif2b A G 11: 91,576,365 V364A probably damaging Het
Mknk2 A G 10: 80,667,664 probably benign Het
Olfr1352 A T 10: 78,983,862 Q24L probably damaging Het
Pgm2 A T 4: 99,962,170 N197I possibly damaging Het
Prss39 C T 1: 34,499,400 probably benign Het
Shroom3 T C 5: 92,940,342 V236A probably damaging Het
Slc17a8 C T 10: 89,592,021 probably null Het
Slc24a3 A G 2: 145,613,580 Y463C probably benign Het
Slc4a7 A G 14: 14,737,480 E149G probably damaging Het
Synj1 G A 16: 91,010,172 probably benign Het
Tas2r138 T A 6: 40,612,476 M279L probably benign Het
Terb1 A G 8: 104,482,167 probably benign Het
Tiparp G T 3: 65,552,609 G442* probably null Het
Trmt5 C T 12: 73,281,104 V442I probably benign Het
Tsc2 T C 17: 24,621,097 I383V possibly damaging Het
Uchl4 A G 9: 64,235,716 T160A possibly damaging Het
Vmn2r3 A T 3: 64,274,961 M439K possibly damaging Het
Vmn2r4 A T 3: 64,406,395 N388K probably damaging Het
Vmn2r52 A T 7: 10,158,941 L757Q probably damaging Het
Zfp518a T C 19: 40,916,031 V1468A probably benign Het
Zxdc A T 6: 90,373,779 E404V probably damaging Het
Other mutations in Ftcd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01683:Ftcd APN 10 76580129 missense probably damaging 1.00
IGL02478:Ftcd APN 10 76581421 nonsense probably null
IGL02664:Ftcd APN 10 76584605 missense probably damaging 0.98
IGL03077:Ftcd APN 10 76581627 missense probably damaging 0.99
R1199:Ftcd UTSW 10 76579819 missense probably damaging 1.00
R1771:Ftcd UTSW 10 76587368 missense probably damaging 0.98
R1876:Ftcd UTSW 10 76581569 missense probably benign 0.26
R2260:Ftcd UTSW 10 76588059 splice site probably null
R2386:Ftcd UTSW 10 76581377 missense probably damaging 1.00
R4578:Ftcd UTSW 10 76589258 missense probably benign
R4951:Ftcd UTSW 10 76584683 missense probably benign 0.15
R5479:Ftcd UTSW 10 76578016 missense probably benign 0.00
R5524:Ftcd UTSW 10 76589331 utr 3 prime probably benign
R5567:Ftcd UTSW 10 76588133 missense probably benign 0.20
R5655:Ftcd UTSW 10 76588103 missense probably damaging 1.00
R6776:Ftcd UTSW 10 76589239 missense probably benign 0.09
R7449:Ftcd UTSW 10 76580163 missense probably benign 0.02
R8183:Ftcd UTSW 10 76575707 start codon destroyed probably null 1.00
R8250:Ftcd UTSW 10 76581627 missense probably damaging 1.00
R8284:Ftcd UTSW 10 76578059 missense probably benign 0.25
Posted On2013-11-18