Incidental Mutation 'R7000:Flad1'
ID 544446
Institutional Source Beutler Lab
Gene Symbol Flad1
Ensembl Gene ENSMUSG00000042642
Gene Name flavin adenine dinucleotide synthetase 1
Synonyms Pp591, A930017E24Rik
MMRRC Submission 045105-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.889) question?
Stock # R7000 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 89309980-89319188 bp(-) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) T to C at 89309549 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000122252 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050398] [ENSMUST00000057431] [ENSMUST00000107426] [ENSMUST00000129308]
AlphaFold Q8R123
Predicted Effect unknown
Transcript: ENSMUST00000050398
AA Change: T516A
SMART Domains Protein: ENSMUSP00000051366
Gene: ENSMUSG00000042642
AA Change: T516A

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 benign
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: 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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a G A 5: 8,752,823 (GRCm39) A525T probably benign Het
Abcc6 A G 7: 45,654,946 (GRCm39) I515T possibly damaging Het
Abi1 G A 2: 22,832,053 (GRCm39) A420V probably damaging Het
Abtb2 A T 2: 103,542,787 (GRCm39) I887F possibly damaging Het
Acap3 G A 4: 155,988,306 (GRCm39) G602S possibly damaging Het
Auts2 T A 5: 131,469,056 (GRCm39) T754S probably benign Het
AW551984 T C 9: 39,512,085 (GRCm39) R12G probably benign Het
Bcan G A 3: 87,895,686 (GRCm39) R817* probably null Het
Bmp10 A G 6: 87,411,175 (GRCm39) T323A probably benign Het
Bpnt1 T C 1: 185,082,053 (GRCm39) L165P probably damaging Het
Casz1 G A 4: 149,013,693 (GRCm39) A86T probably damaging Het
Ccn3 A T 15: 54,615,743 (GRCm39) T303S probably damaging Het
Cd1d2 T C 3: 86,895,080 (GRCm39) F189L probably benign Het
Cep72 A G 13: 74,206,444 (GRCm39) M126T probably damaging Het
Cep85l T A 10: 53,174,295 (GRCm39) T483S probably damaging Het
Cfi C A 3: 129,666,522 (GRCm39) T415K probably damaging Het
Chrna7 A G 7: 62,755,787 (GRCm39) L253S probably damaging Het
Col4a4 T C 1: 82,475,051 (GRCm39) H596R unknown Het
Cplx3 G C 9: 57,523,231 (GRCm39) Q109E probably benign Het
Cyp2j8 A T 4: 96,335,588 (GRCm39) M402K probably benign Het
Cyp3a16 T A 5: 145,399,980 (GRCm39) probably null Het
Dhdh T C 7: 45,124,698 (GRCm39) K332E possibly damaging Het
Dnah11 C A 12: 117,981,396 (GRCm39) C2590F probably damaging Het
Dnah17 T C 11: 117,916,528 (GRCm39) probably null Het
Dtx1 A G 5: 120,833,148 (GRCm39) Y97H probably damaging Het
Duxf1 T C 10: 58,058,814 (GRCm39) T647A possibly damaging Het
Elf1 A G 14: 79,808,208 (GRCm39) D183G probably damaging Het
Esyt3 A C 9: 99,204,206 (GRCm39) L94R probably damaging Het
Exoc3 A G 13: 74,330,285 (GRCm39) Y521H probably benign Het
F5 C T 1: 164,007,075 (GRCm39) T293M probably damaging Het
Fam118b A T 9: 35,146,560 (GRCm39) H102Q probably damaging Het
Flrt3 G A 2: 140,502,804 (GRCm39) R275* probably null Het
Fndc7 G A 3: 108,783,964 (GRCm39) A215V probably benign Het
Fscn1 T A 5: 142,946,382 (GRCm39) V60E probably damaging Het
Gm17175 A T 14: 51,811,418 (GRCm39) M1K probably null Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Gprc6a T C 10: 51,491,143 (GRCm39) S694G probably benign Het
Iglon5 A T 7: 43,126,254 (GRCm39) probably null Het
Iqch T C 9: 63,361,892 (GRCm39) T874A probably benign Het
Lamc2 T A 1: 153,041,873 (GRCm39) H87L possibly damaging Het
Ldlrad1 T A 4: 107,066,777 (GRCm39) D37E probably benign Het
Loxhd1 T C 18: 77,460,129 (GRCm39) probably null Het
Lxn T G 3: 67,369,704 (GRCm39) E60D probably benign Het
Man2b2 A G 5: 36,979,213 (GRCm39) W276R probably damaging Het
Mast1 T C 8: 85,655,598 (GRCm39) Y182C probably damaging Het
Mroh8 C T 2: 157,058,897 (GRCm39) R923Q probably benign Het
Obscn A G 11: 59,026,864 (GRCm39) L113P probably damaging Het
Ocln C T 13: 100,671,470 (GRCm39) probably null Het
Oog2 A T 4: 143,921,897 (GRCm39) Q269L probably damaging Het
Or52e8 G A 7: 104,624,338 (GRCm39) P285S probably damaging Het
Or5b113 A G 19: 13,341,987 (GRCm39) probably benign Het
Osbpl3 A G 6: 50,274,137 (GRCm39) S826P probably damaging Het
Otogl T C 10: 107,615,692 (GRCm39) N1869S probably benign Het
Pamr1 G A 2: 102,441,968 (GRCm39) D186N probably damaging Het
Pcdhga8 T A 18: 37,859,946 (GRCm39) I334K probably benign Het
Pde7b A G 10: 20,319,038 (GRCm39) S95P probably damaging Het
Pik3cg A T 12: 32,242,128 (GRCm39) V994E probably damaging Het
Pkp1 T C 1: 135,817,692 (GRCm39) M148V probably benign Het
Plbd1 T G 6: 136,589,836 (GRCm39) K461Q probably benign Het
Pmfbp1 A G 8: 110,257,221 (GRCm39) E594G possibly damaging Het
Pold3 A T 7: 99,755,865 (GRCm39) H60Q probably damaging Het
Polr3gl C T 3: 96,487,783 (GRCm39) R52Q possibly damaging Het
Ptgds A G 2: 25,357,828 (GRCm39) probably null Het
Scarb2 T C 5: 92,601,934 (GRCm39) D320G probably benign Het
Sdk2 T C 11: 113,693,995 (GRCm39) Y1812C probably damaging Het
Skint8 C A 4: 111,794,222 (GRCm39) T204N probably benign Het
Slc23a2 T C 2: 131,936,123 (GRCm39) Q49R possibly damaging Het
Slc26a7 T C 4: 14,552,476 (GRCm39) Q227R probably benign Het
Sntn C T 14: 13,679,108 (GRCm38) T94I probably damaging Het
Spem2 C T 11: 69,708,582 (GRCm39) G128S probably benign Het
Supt16 A T 14: 52,408,907 (GRCm39) S822R probably damaging Het
Syn3 T C 10: 85,916,116 (GRCm39) Y290C probably damaging Het
Tdrd6 C G 17: 43,938,599 (GRCm39) E816D probably benign Het
Tln1 A T 4: 43,556,302 (GRCm39) M72K probably damaging Het
Tlnrd1 A G 7: 83,531,987 (GRCm39) V148A probably damaging Het
Trim24 C A 6: 37,935,613 (GRCm39) T832K probably benign Het
Ubr4 C T 4: 139,141,715 (GRCm39) A1267V probably damaging Het
Usp17lb A T 7: 104,490,492 (GRCm39) M145K probably damaging Het
Vmn1r178 T A 7: 23,593,762 (GRCm39) M270K probably benign Het
Vmn2r70 A T 7: 85,208,819 (GRCm39) C553S probably damaging Het
Vps37c G T 19: 10,687,693 (GRCm39) E51D probably damaging Het
Zfp62 T G 11: 49,107,206 (GRCm39) Y432* probably null 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
R6522:Flad1 UTSW 3 89,310,490 (GRCm39) missense probably damaging 1.00
R6703:Flad1 UTSW 3 89,315,897 (GRCm39) missense 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'- CATTCCTAGTTCTTCAAGTACGTGG -3'
(R):5'- TAATGGTGGCAGGGAACACC -3'

Sequencing Primer
(F):5'- CTAGTTCTTCAAGTACGTGGGTTGG -3'
(R):5'- GGGAACACCTCCTGTCACC -3'
Posted On 2019-05-13