Incidental Mutation 'IGL00422:Flad1'
ID6840
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Flad1
Ensembl Gene ENSMUSG00000042642
Gene Nameflavin adenine dinucleotide synthetase 1
SynonymsA930017E24Rik, Pp591
Accession Numbers

Ncbi RefSeq: NM_177041.3; MGI:2443030

Is this an essential gene? Possibly essential (E-score: 0.651) question?
Stock #IGL00422
Quality Score
Status
Chromosome3
Chromosomal Location89401004-89411870 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 89405853 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000122252 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050398] [ENSMUST00000057431] [ENSMUST00000107426] [ENSMUST00000107429] [ENSMUST00000129308] [ENSMUST00000162701]
Predicted Effect probably null
Transcript: ENSMUST00000050398
SMART Domains Protein: ENSMUSP00000051366
Gene: ENSMUSG00000042642

DomainStartEndE-ValueType
MoCF_biosynth 19 180 7.52e-24 SMART
Pfam:PAPS_reduct 303 460 5.2e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000057431
SMART Domains Protein: ENSMUSP00000052968
Gene: ENSMUSG00000078173

DomainStartEndE-ValueType
Pfam:LEP503 1 61 6.1e-39 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000107426
SMART Domains Protein: ENSMUSP00000103049
Gene: ENSMUSG00000042642

DomainStartEndE-ValueType
MoCF_biosynth 19 180 7.52e-24 SMART
Pfam:PAPS_reduct 303 460 4.7e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107429
SMART Domains Protein: ENSMUSP00000103052
Gene: ENSMUSG00000042642

DomainStartEndE-ValueType
MoCF_biosynth 19 174 2.06e-21 SMART
Predicted Effect probably null
Transcript: ENSMUST00000129308
SMART Domains Protein: ENSMUSP00000122252
Gene: ENSMUSG00000042642

DomainStartEndE-ValueType
MoCF_biosynth 19 180 7.52e-24 SMART
Pfam:PAPS_reduct 303 460 4.7e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162701
SMART Domains Protein: ENSMUSP00000125654
Gene: ENSMUSG00000042642

DomainStartEndE-ValueType
MoCF_biosynth 19 99 1.11e0 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the enzyme that catalyzes adenylation of flavin mononucleotide (FMN) to form flavin adenine dinucleotide (FAD) coenzyme. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
Allele List at MGI

All alleles(19) : Targeted(3) Gene trapped(16)

Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 C T 19: 57,068,186 A359T probably damaging Het
Ajuba A T 14: 54,571,769 Y400* probably null Het
Cckar T A 5: 53,699,829 D342V possibly damaging Het
Cdc123 A G 2: 5,798,449 V253A probably benign Het
Cep162 T C 9: 87,227,167 D461G probably benign Het
Chd7 G A 4: 8,859,106 E2399K probably damaging Het
Cln8 G A 8: 14,896,637 C217Y probably benign Het
Dchs1 A G 7: 105,758,029 V2119A possibly damaging Het
Dhx33 T C 11: 71,001,620 S108G probably benign Het
Dip2a T A 10: 76,313,236 M194L probably benign Het
Dnah11 T C 12: 118,068,096 K1779R probably damaging Het
Fads3 T G 19: 10,055,681 F328V possibly damaging Het
Gm5346 A G 8: 43,626,351 F279L probably damaging Het
Gm7535 G T 17: 17,911,888 probably benign Het
Gnpat A G 8: 124,885,013 E513G probably damaging Het
H2-M5 A G 17: 36,987,840 I238T probably damaging Het
Hoxd12 G A 2: 74,675,427 R114Q probably damaging Het
Ide T C 19: 37,276,532 I903V unknown Het
Ifi209 T G 1: 173,638,963 D120E possibly damaging Het
Map3k10 T C 7: 27,668,469 D248G probably damaging Het
Mat2b C A 11: 40,687,738 G41C probably damaging Het
Mfsd4a T C 1: 132,040,594 I369V probably benign Het
Myom1 T A 17: 71,126,098 V1480E probably damaging Het
Myom2 A T 8: 15,069,490 D127V probably damaging Het
Olfml2b T A 1: 170,669,066 V422E probably damaging Het
Pkn3 G A 2: 30,081,104 A228T probably damaging Het
Rad17 A T 13: 100,629,525 I365K probably benign Het
Rad17 A T 13: 100,629,523 S366T probably damaging Het
Rpp14 G A 14: 8,083,934 G30E possibly damaging Het
Slco1a6 A C 6: 142,161,017 C15G probably benign Het
Spag9 T A 11: 94,097,866 F571I probably benign Het
Ttc27 T A 17: 74,780,816 C459S probably damaging Het
Washc2 A G 6: 116,256,676 T888A probably benign Het
Zcchc7 A T 4: 44,931,318 H490L possibly damaging Het
Other mutations in Flad1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02065:Flad1 APN 3 89408987 missense probably damaging 1.00
brick UTSW 3 89411187 missense probably damaging 1.00
Impaler UTSW 3 89403451 missense probably damaging 0.99
stone UTSW 3 89408802 missense probably damaging 1.00
R0060:Flad1 UTSW 3 89402245 nonsense probably null
R3821:Flad1 UTSW 3 89411187 missense probably damaging 1.00
R3822:Flad1 UTSW 3 89411187 missense probably damaging 1.00
R4458:Flad1 UTSW 3 89408934 missense probably benign 0.14
R4838:Flad1 UTSW 3 89405910 missense probably damaging 1.00
R5296:Flad1 UTSW 3 89411196 missense probably damaging 1.00
R6522:Flad1 UTSW 3 89403183 missense probably damaging 1.00
R6703:Flad1 UTSW 3 89408590 missense probably benign
R7000:Flad1 UTSW 3 89402242 utr 3 prime probably benign
R7114:Flad1 UTSW 3 89407530 missense probably benign 0.00
R7127:Flad1 UTSW 3 89403418 missense probably damaging 1.00
R7365:Flad1 UTSW 3 89408665 missense possibly damaging 0.94
R7626:Flad1 UTSW 3 89403411 missense probably benign 0.02
R7662:Flad1 UTSW 3 89403451 missense probably damaging 0.99
R8097:Flad1 UTSW 3 89409135 missense probably damaging 1.00
R8296:Flad1 UTSW 3 89408802 missense probably damaging 1.00
R8332:Flad1 UTSW 3 89407521 missense probably benign
R8531:Flad1 UTSW 3 89403210 missense probably damaging 1.00
Protein Function and Prediction

Flad1 encodes FAD synthetase (FADS), an enzyme that catalyzes the adenylation of riboflavin into the redox cofactor FAD (1). Within the cells, dietary riboflavin (i.e., vitamin B2) is converted into catalytically active cofactors via riboflavin kinase, which converts riboflavin into flavin mononucleotide (FMN) and FADS (1). Silencing of the Flad1 homologue in C. elegans resulted in decreased ATP, an increase in ROS, and impaired locomotion proposed to be due to altered cholinergic transmission (2). The human FLAD1 gene has two isoforms and both possess FADS activity (1). The two isoforms differ in at the N-terminus (3).

Expression/Localization

Isoform 1 of FLAD1 is localized in the mitochondria (3).

References
Posted On2012-04-20
Science WriterAnne Murray