Incidental Mutation 'R5296:Flad1'
ID405400
Institutional Source Beutler Lab
Gene Symbol Flad1
Ensembl Gene ENSMUSG00000042642
Gene Nameflavin adenine dinucleotide synthetase 1
SynonymsA930017E24Rik, Pp591
MMRRC Submission 042879-MU
Accession Numbers

Ncbi RefSeq: NM_177041.3; MGI:2443030

Is this an essential gene? Possibly essential (E-score: 0.624) question?
Stock #R5296 (G1)
Quality Score225
Status Validated
Chromosome3
Chromosomal Location89401004-89411870 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 89411196 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 17 (T17A)
Ref Sequence ENSEMBL: ENSMUSP00000122252 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029679] [ENSMUST00000050398] [ENSMUST00000107422] [ENSMUST00000107426] [ENSMUST00000107429] [ENSMUST00000129308] [ENSMUST00000162701] [ENSMUST00000183484]
Predicted Effect probably benign
Transcript: ENSMUST00000029679
SMART Domains Protein: ENSMUSP00000029679
Gene: ENSMUSG00000028044

DomainStartEndE-ValueType
CKS 5 74 4.1e-48 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000050398
AA Change: T17A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051366
Gene: ENSMUSG00000042642
AA Change: T17A

DomainStartEndE-ValueType
MoCF_biosynth 19 180 7.52e-24 SMART
Pfam:PAPS_reduct 303 460 5.2e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107422
SMART Domains Protein: ENSMUSP00000103045
Gene: ENSMUSG00000028044

DomainStartEndE-ValueType
CKS 1 52 3.88e-26 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000107426
AA Change: T17A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103049
Gene: ENSMUSG00000042642
AA Change: T17A

DomainStartEndE-ValueType
MoCF_biosynth 19 180 7.52e-24 SMART
Pfam:PAPS_reduct 303 460 4.7e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107429
AA Change: T17A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103052
Gene: ENSMUSG00000042642
AA Change: T17A

DomainStartEndE-ValueType
MoCF_biosynth 19 174 2.06e-21 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000129308
AA Change: T17A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122252
Gene: ENSMUSG00000042642
AA Change: T17A

DomainStartEndE-ValueType
MoCF_biosynth 19 180 7.52e-24 SMART
Pfam:PAPS_reduct 303 460 4.7e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000162701
AA Change: T17A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125654
Gene: ENSMUSG00000042642
AA Change: T17A

DomainStartEndE-ValueType
MoCF_biosynth 19 99 1.11e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000183484
SMART Domains Protein: ENSMUSP00000138900
Gene: ENSMUSG00000028044

DomainStartEndE-ValueType
Pfam:CKS 5 36 2.4e-8 PFAM
Meta Mutation Damage Score 0.1980 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.9%
  • 10x: 97.9%
  • 20x: 96.6%
Validation Efficiency 100% (65/65)
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
Apobr A C 7: 126,588,024 D89A probably damaging Het
Bhlhe41 C T 6: 145,862,968 probably benign Het
Cacna1s G A 1: 136,095,785 V674M probably benign Het
Cavin2 T C 1: 51,289,870 probably null Het
Cd300lb T C 11: 114,924,937 S106G possibly damaging Het
Ceacam15 A G 7: 16,673,196 V132A probably benign Het
Ddi2 G T 4: 141,684,765 Q279K probably benign Het
Dnah11 A G 12: 117,883,416 V4304A probably damaging Het
Dnah2 C T 11: 69,458,920 R2399Q probably benign Het
Dnase1l1 C T X: 74,277,038 probably null Het
Epsti1 T A 14: 77,904,650 H55Q probably benign Het
Fzd2 C T 11: 102,606,155 T475M probably damaging Het
Gemin5 C A 11: 58,130,061 W1099L probably damaging Het
Gm8979 A T 7: 106,081,848 noncoding transcript Het
Gm9892 T C 8: 52,196,929 noncoding transcript Het
Gmeb2 A G 2: 181,255,986 probably benign Het
Grip1 A G 10: 119,929,928 E55G probably damaging Het
Hltf T C 3: 20,108,112 S825P probably damaging Het
Kcnh3 A T 15: 99,241,939 Q902L probably null Het
Kcnt2 C T 1: 140,609,615 P1037L probably damaging Het
Klhl18 G C 9: 110,436,127 N335K possibly damaging Het
Lama5 A C 2: 180,193,801 L1253R probably damaging Het
Lancl2 T G 6: 57,724,582 S230A probably benign Het
Lmcd1 A G 6: 112,315,588 M134V probably damaging Het
Lrrc23 C A 6: 124,774,482 A205S probably damaging Het
Mfsd13b T A 7: 120,991,738 I234N probably damaging Het
Mroh3 A G 1: 136,196,323 S386P probably damaging Het
Mylk3 A C 8: 85,355,431 F313V possibly damaging Het
Myo9b A T 8: 71,333,388 Q643L possibly damaging Het
Nacad T C 11: 6,605,745 S2G unknown Het
Olfr1269 A T 2: 90,118,699 W300R probably damaging Het
Olfr136 C T 17: 38,335,456 Q100* probably null Het
Olfr419 G T 1: 174,250,756 T57K possibly damaging Het
Olfr908 T C 9: 38,516,116 F28S probably damaging Het
Pkd1 T C 17: 24,576,074 V2245A probably damaging Het
Pkdrej G A 15: 85,817,118 T1539I possibly damaging Het
Plch2 G T 4: 154,989,999 probably null Het
Pygm G A 19: 6,384,579 R34H probably damaging Het
Rgs12 T C 5: 35,021,104 probably benign Het
Ruvbl1 T C 6: 88,485,908 I338T probably damaging Het
Sapcd1 T A 17: 35,026,731 Q104L probably damaging Het
Satb2 T C 1: 56,796,907 E575G probably damaging Het
Sema6b T A 17: 56,127,091 probably null Het
Slc25a11 T C 11: 70,646,185 N15D probably damaging Het
Slc26a6 C T 9: 108,860,646 T526M probably damaging Het
Tcaf3 G T 6: 42,587,510 T906K possibly damaging Het
Thbd A T 2: 148,406,983 C322S probably damaging Het
Traf2 A G 2: 25,520,440 L399P probably damaging Het
Troap T A 15: 99,078,817 V274D probably damaging Het
Utrn G A 10: 12,401,355 T3406M probably damaging Het
Uts2 G T 4: 150,999,051 A40S possibly damaging Het
Vmn2r109 T A 17: 20,554,341 I251F possibly damaging Het
Vmn2r67 A G 7: 85,137,022 S592P probably damaging Het
Vps13b T G 15: 35,876,413 W2797G probably damaging Het
Ythdf1 A T 2: 180,912,188 M51K probably damaging Het
Zfp60 T A 7: 27,738,530 probably benign Het
Zfp882 T A 8: 71,914,360 F344I probably damaging Het
Other mutations in Flad1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00422:Flad1 APN 3 89405853 critical splice donor site probably null
IGL02065:Flad1 APN 3 89408987 missense probably damaging 1.00
Impaler UTSW 3 89403451 missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- TGTGTTAGGACTCACTCCAGGG -3'
(R):5'- GAAGGTACACTCCTGACGTCTTC -3'

Sequencing Primer
(F):5'- ACTCCAGGGCCGGACTTTG -3'
(R):5'- GTACACTCCTGACGTCTTCATTGTC -3'
Posted On2016-07-22