Incidental Mutation 'R4458:Flad1'
ID 329992
Institutional Source Beutler Lab
Gene Symbol Flad1
Ensembl Gene ENSMUSG00000042642
Gene Name flavin adenine dinucleotide synthetase 1
Synonyms Pp591, A930017E24Rik
MMRRC Submission 041718-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.895) question?
Stock # R4458 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 89309980-89319188 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89316241 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 107 (H107R)
Ref Sequence ENSEMBL: ENSMUSP00000122252 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050398] [ENSMUST00000107426] [ENSMUST00000107429] [ENSMUST00000129308] [ENSMUST00000162701]
AlphaFold Q8R123
Predicted Effect probably benign
Transcript: ENSMUST00000050398
AA Change: H107R

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000051366
Gene: ENSMUSG00000042642
AA Change: H107R

DomainStartEndE-ValueType
MoCF_biosynth 19 180 7.52e-24 SMART
Pfam:PAPS_reduct 303 460 5.2e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107426
AA Change: H107R

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000103049
Gene: ENSMUSG00000042642
AA Change: H107R

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
AA Change: H107R

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000103052
Gene: ENSMUSG00000042642
AA Change: H107R

DomainStartEndE-ValueType
MoCF_biosynth 19 174 2.06e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000129308
AA Change: H107R

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000122252
Gene: ENSMUSG00000042642
AA Change: H107R

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630076J17Rik G A 3: 107,139,997 (GRCm39) probably null Het
Akap13 A G 7: 75,389,213 (GRCm39) D2377G probably damaging Het
Ankrd44 A T 1: 54,801,550 (GRCm39) I56N possibly damaging Het
Apob T A 12: 8,065,445 (GRCm39) I4105N probably damaging Het
Arhgap5 T A 12: 52,564,740 (GRCm39) N570K probably benign Het
Arid1b A T 17: 5,293,191 (GRCm39) Q703L probably damaging Het
Atp4a G A 7: 30,419,650 (GRCm39) R671Q probably benign Het
Cad T A 5: 31,218,570 (GRCm39) V499D probably damaging Het
Cdkn2d C G 9: 21,202,185 (GRCm39) V21L probably benign Het
Celsr2 A C 3: 108,302,313 (GRCm39) I2605S probably damaging Het
Chd6 T A 2: 160,871,796 (GRCm39) Y213F possibly damaging Het
Clec18a T A 8: 111,802,102 (GRCm39) T296S probably damaging Het
Crybg2 C T 4: 133,802,205 (GRCm39) P1122S probably benign Het
Cyld G T 8: 89,445,929 (GRCm39) S309I probably benign Het
Dctn5 G T 7: 121,734,303 (GRCm39) R49L probably damaging Het
Egr2 GAA GA 10: 67,375,733 (GRCm39) probably null Het
Erbin C A 13: 103,970,065 (GRCm39) V1184F probably damaging Het
Ercc2 G T 7: 19,127,771 (GRCm39) R406L probably damaging Het
Eya1 C T 1: 14,253,420 (GRCm39) V519M probably damaging Het
Fsip2 G T 2: 82,821,120 (GRCm39) A5618S possibly damaging Het
Gabbr1 G T 17: 37,378,667 (GRCm39) probably null Het
Haghl A T 17: 26,003,994 (GRCm39) V30E probably damaging Het
Itga5 C T 15: 103,258,630 (GRCm39) E822K probably damaging Het
Klhl26 T A 8: 70,905,342 (GRCm39) E108D possibly damaging Het
Kpnb1 A T 11: 97,059,996 (GRCm39) L558Q probably damaging Het
Lias T C 5: 65,551,383 (GRCm39) probably null Het
Ltbp1 A T 17: 75,583,502 (GRCm39) K434M possibly damaging Het
Marchf1 C A 8: 66,908,823 (GRCm39) A177E probably damaging Het
Naip2 T A 13: 100,291,419 (GRCm39) H1173L probably benign Het
Nol4 T C 18: 22,885,052 (GRCm39) I419V probably damaging Het
Nol6 A G 4: 41,115,888 (GRCm39) L1068P probably damaging Het
Nrcam T C 12: 44,606,513 (GRCm39) S420P probably damaging Het
Or10c1 A T 17: 37,522,204 (GRCm39) I180N possibly damaging Het
Pitpnm2 T C 5: 124,259,439 (GRCm39) T1299A probably benign Het
Prdm16 A G 4: 154,406,765 (GRCm39) V1220A probably benign Het
Saraf T C 8: 34,621,870 (GRCm39) S25P unknown Het
Serpine3 C A 14: 62,911,922 (GRCm39) L295I probably damaging Het
Sntb2 G A 8: 107,718,239 (GRCm39) probably null Het
Surf6 T C 2: 26,782,721 (GRCm39) E202G probably benign Het
Tent5a T C 9: 85,208,527 (GRCm39) I99V possibly damaging Het
Th A T 7: 142,450,690 (GRCm39) D135E probably benign Het
Traf1 A G 2: 34,835,445 (GRCm39) Y326H probably damaging Het
Tshz2 G A 2: 169,727,008 (GRCm39) A66T probably benign Het
Ttn T C 2: 76,777,257 (GRCm39) M1382V probably benign Het
Ubqlnl A G 7: 103,798,396 (GRCm39) V367A probably benign Het
Uspl1 T A 5: 149,150,962 (GRCm39) S707T possibly damaging Het
Utp18 A G 11: 93,761,359 (GRCm39) S350P possibly damaging Het
Vmn1r177 A G 7: 23,565,645 (GRCm39) V77A possibly damaging Het
Vmn1r229 A G 17: 21,034,894 (GRCm39) I46M probably damaging Het
Vnn3 T C 10: 23,741,567 (GRCm39) Y291H probably benign Het
Vps9d1 A G 8: 123,974,487 (GRCm39) S267P probably benign Het
Wrn T A 8: 33,785,026 (GRCm39) T692S probably damaging Het
Yeats2 T C 16: 20,032,071 (GRCm39) I19T probably damaging Het
Zfp13 G A 17: 23,800,150 (GRCm39) A36V probably benign 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
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
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'- AGTCCCTCCAAAACTCGTCG -3'
(R):5'- TAGGGACACACGCAAGATAC -3'

Sequencing Primer
(F):5'- TCGCAGAAGCTCCGGAATTC -3'
(R):5'- AGATACCAACACTTACTTTCTTTGC -3'
Posted On 2015-07-21