Incidental Mutation 'R6522:Flad1'
ID 521350
Institutional Source Beutler Lab
Gene Symbol Flad1
Ensembl Gene ENSMUSG00000042642
Gene Name flavin adenine dinucleotide synthetase 1
Synonyms Pp591, A930017E24Rik
MMRRC Submission 044648-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.889) question?
Stock # R6522 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 89309980-89319188 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89310490 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 488 (R488G)
Ref Sequence ENSEMBL: ENSMUSP00000122252 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050398] [ENSMUST00000057431] [ENSMUST00000107426] [ENSMUST00000129308]
AlphaFold Q8R123
Predicted Effect probably damaging
Transcript: ENSMUST00000050398
AA Change: R488G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051366
Gene: ENSMUSG00000042642
AA Change: R488G

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 damaging
Transcript: ENSMUST00000107426
AA Change: R488G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103049
Gene: ENSMUSG00000042642
AA Change: R488G

DomainStartEndE-ValueType
MoCF_biosynth 19 180 7.52e-24 SMART
Pfam:PAPS_reduct 303 460 4.7e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126926
Predicted Effect probably damaging
Transcript: ENSMUST00000129308
AA Change: R488G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122252
Gene: ENSMUSG00000042642
AA Change: R488G

DomainStartEndE-ValueType
MoCF_biosynth 19 180 7.52e-24 SMART
Pfam:PAPS_reduct 303 460 4.7e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145400
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152143
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.3%
Validation Efficiency 100% (56/56)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb C A 10: 10,253,636 (GRCm39) E1209* probably null Het
Adgrg5 G T 8: 95,668,696 (GRCm39) R503L probably benign Het
Anks1b C T 10: 90,733,189 (GRCm39) probably benign Het
Anxa5 A T 3: 36,519,451 (GRCm39) F13I probably damaging Het
Bicd1 A G 6: 149,385,503 (GRCm39) I79V probably benign Het
Bnip1 A G 17: 27,008,719 (GRCm39) D107G probably damaging Het
Ccdc42 A G 11: 68,479,046 (GRCm39) E78G probably damaging Het
Ccnk A G 12: 108,153,446 (GRCm39) D69G probably damaging Het
Clec2i G T 6: 128,870,692 (GRCm39) V77F probably damaging Het
Clec4g A C 8: 3,768,803 (GRCm39) V62G probably benign Het
Col4a4 G A 1: 82,465,304 (GRCm39) A957V unknown Het
Csnk1d A G 11: 120,862,449 (GRCm39) F277L probably damaging Het
Dip2c G A 13: 9,625,264 (GRCm39) probably null Het
Dpf2 T A 19: 5,955,560 (GRCm39) K108* probably null Het
Dync1h1 G A 12: 110,583,171 (GRCm39) D423N probably damaging Het
Fbxl13 T C 5: 21,766,554 (GRCm39) probably null Homo
Galnt6 A C 15: 100,591,236 (GRCm39) *623E probably null Het
Gtf2e1 T C 16: 37,331,816 (GRCm39) T420A possibly damaging Het
Hspg2 T C 4: 137,282,586 (GRCm39) V3442A probably damaging Het
Itpr1 A G 6: 108,365,237 (GRCm39) D55G probably damaging Het
Kdm2a C A 19: 4,374,854 (GRCm39) R759L possibly damaging Het
Kif19a A G 11: 114,676,605 (GRCm39) E478G probably damaging Het
Lamb3 G A 1: 193,017,761 (GRCm39) V881I probably benign Het
Map3k6 T C 4: 132,977,335 (GRCm39) L894P possibly damaging Het
Mast4 A G 13: 102,897,801 (GRCm39) probably null Het
Mst1r G A 9: 107,790,438 (GRCm39) V684M probably benign Het
Naa15 T C 3: 51,378,935 (GRCm39) S727P probably damaging Het
Nap1l1 T C 10: 111,330,084 (GRCm39) L330S probably damaging Het
Nav2 A G 7: 49,247,281 (GRCm39) T2205A probably damaging Het
Ncf2 T C 1: 152,703,214 (GRCm39) probably null Het
Opa1 T A 16: 29,444,332 (GRCm39) N839K probably benign Het
Or4c104 T C 2: 88,586,452 (GRCm39) D189G probably damaging Het
Or52a33 T C 7: 103,288,504 (GRCm39) Y281C probably damaging Het
Or52n4b G A 7: 108,144,202 (GRCm39) V155I probably benign Het
Pcdha7 T C 18: 37,106,995 (GRCm39) Y7H possibly damaging Het
Pcdhb15 T C 18: 37,607,314 (GRCm39) V182A probably benign Het
Phf10 A T 17: 15,176,269 (GRCm39) I128N probably damaging Het
Plce1 T A 19: 38,736,965 (GRCm39) probably null Het
Plxnb2 T C 15: 89,048,629 (GRCm39) N626S probably benign Het
Prh1 G A 6: 132,548,996 (GRCm39) G168R unknown Het
Prss51 A G 14: 64,334,855 (GRCm39) T137A possibly damaging Het
Ptprcap C T 19: 4,206,183 (GRCm39) R89C possibly damaging Het
Scfd1 A G 12: 51,478,324 (GRCm39) K512R probably benign Het
Serpina1b A C 12: 103,701,296 (GRCm39) probably null Het
Setbp1 T C 18: 78,900,605 (GRCm39) T1021A probably damaging Het
Slco1b2 G A 6: 141,601,145 (GRCm39) probably null Het
Snrnp200 C T 2: 127,063,747 (GRCm39) T642I probably benign Het
Tenm4 A C 7: 96,492,251 (GRCm39) I1063L possibly damaging Het
Tfb2m G A 1: 179,373,611 (GRCm39) A29V probably benign Het
Tfeb T C 17: 48,100,627 (GRCm39) V140A probably damaging Het
Tmem104 A T 11: 115,134,579 (GRCm39) I372F probably damaging Het
Tmem132d G T 5: 127,860,832 (GRCm39) H1096Q probably benign Het
Trim12c A T 7: 103,997,531 (GRCm39) N8K probably benign Het
Tti2 A G 8: 31,643,631 (GRCm39) I249V probably null Het
Vps8 T A 16: 21,261,129 (GRCm39) L90I probably damaging Het
Vwf A T 6: 125,639,926 (GRCm39) probably null Het
Wdfy4 A G 14: 32,868,901 (GRCm39) S376P probably damaging Het
Other mutations in Flad1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00422:Flad1 APN 3 89,313,160 (GRCm39) critical splice donor site probably null
IGL02065:Flad1 APN 3 89,316,294 (GRCm39) missense probably damaging 1.00
brick UTSW 3 89,318,494 (GRCm39) missense probably damaging 1.00
Impaler UTSW 3 89,310,758 (GRCm39) missense probably damaging 0.99
stone UTSW 3 89,316,109 (GRCm39) missense probably damaging 1.00
R0060:Flad1 UTSW 3 89,309,552 (GRCm39) nonsense probably null
R3821:Flad1 UTSW 3 89,318,494 (GRCm39) missense probably damaging 1.00
R3822:Flad1 UTSW 3 89,318,494 (GRCm39) missense probably damaging 1.00
R4458:Flad1 UTSW 3 89,316,241 (GRCm39) missense probably benign 0.14
R4838:Flad1 UTSW 3 89,313,217 (GRCm39) missense probably damaging 1.00
R5296:Flad1 UTSW 3 89,318,503 (GRCm39) missense probably damaging 1.00
R6703:Flad1 UTSW 3 89,315,897 (GRCm39) missense probably benign
R7000:Flad1 UTSW 3 89,309,549 (GRCm39) utr 3 prime probably benign
R7114:Flad1 UTSW 3 89,314,837 (GRCm39) missense probably benign 0.00
R7127:Flad1 UTSW 3 89,310,725 (GRCm39) missense probably damaging 1.00
R7365:Flad1 UTSW 3 89,315,972 (GRCm39) missense possibly damaging 0.94
R7626:Flad1 UTSW 3 89,310,718 (GRCm39) missense probably benign 0.02
R7662:Flad1 UTSW 3 89,310,758 (GRCm39) missense probably damaging 0.99
R8097:Flad1 UTSW 3 89,316,442 (GRCm39) missense probably damaging 1.00
R8296:Flad1 UTSW 3 89,316,109 (GRCm39) missense probably damaging 1.00
R8332:Flad1 UTSW 3 89,314,828 (GRCm39) missense probably benign
R8531:Flad1 UTSW 3 89,310,517 (GRCm39) missense probably damaging 1.00
R8711:Flad1 UTSW 3 89,316,415 (GRCm39) missense probably damaging 1.00
R9090:Flad1 UTSW 3 89,315,858 (GRCm39) nonsense probably null
R9271:Flad1 UTSW 3 89,315,858 (GRCm39) nonsense probably null
R9767:Flad1 UTSW 3 89,310,718 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGCCAGTTCAGATCTGTCAGC -3'
(R):5'- GCATCCTATATGACAGAGGGTAAGG -3'

Sequencing Primer
(F):5'- AGATCTGTCAGCCTCCCTTGAC -3'
(R):5'- CTATATGACAGAGGGTAAGGTGGTTG -3'
Posted On 2018-06-06