Incidental Mutation 'IGL03283:Fads2b'
ID 415637
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fads2b
Ensembl Gene ENSMUSG00000075217
Gene Name fatty acid desaturase 2B
Synonyms 4833423E24Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # IGL03283
Quality Score
Status
Chromosome 2
Chromosomal Location 85314436-85349279 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 85320751 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Valine at position 351 (F351V)
Ref Sequence ENSEMBL: ENSMUSP00000097507 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099923]
AlphaFold Q0VAX3
Predicted Effect probably damaging
Transcript: ENSMUST00000099923
AA Change: F351V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000097507
Gene: ENSMUSG00000075217
AA Change: F351V

DomainStartEndE-ValueType
Cyt-b5 65 139 6.6e-20 SMART
transmembrane domain 176 195 N/A INTRINSIC
Pfam:FA_desaturase 200 462 1.7e-39 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 16 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bicdl2 A G 17: 23,886,155 (GRCm39) E361G probably damaging Het
Cd163 A G 6: 124,286,158 (GRCm39) D236G possibly damaging Het
Cep76 A T 18: 67,773,139 (GRCm39) I53N possibly damaging Het
Cfap43 A G 19: 47,779,851 (GRCm39) probably benign Het
Champ1 T C 8: 13,928,786 (GRCm39) S315P probably benign Het
Ctdsp2 A G 10: 126,832,266 (GRCm39) T91A probably benign Het
Cyp4a32 G T 4: 115,468,280 (GRCm39) K283N possibly damaging Het
Dgki A G 6: 36,914,246 (GRCm39) probably benign Het
Gabrr2 A G 4: 33,082,364 (GRCm39) probably benign Het
Garin4 C T 1: 190,895,029 (GRCm39) R538H probably benign Het
Gm5414 G T 15: 101,535,522 (GRCm39) Q188K probably damaging Het
Grik2 A T 10: 49,454,365 (GRCm39) M50K probably benign Het
Muc5ac A G 7: 141,367,518 (GRCm39) M2980V probably benign Het
Pafah2 C T 4: 134,145,408 (GRCm39) T264M probably damaging Het
Tacc2 A G 7: 130,343,996 (GRCm39) M2552V possibly damaging Het
Usp3 C T 9: 66,469,831 (GRCm39) probably null Het
Other mutations in Fads2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01754:Fads2b APN 2 85,348,899 (GRCm39) missense probably damaging 1.00
IGL02348:Fads2b APN 2 85,323,640 (GRCm39) missense possibly damaging 0.70
IGL02701:Fads2b APN 2 85,314,513 (GRCm39) missense probably damaging 1.00
IGL02833:Fads2b APN 2 85,332,551 (GRCm39) missense possibly damaging 0.46
IGL03152:Fads2b APN 2 85,330,648 (GRCm39) missense probably damaging 0.98
R0083:Fads2b UTSW 2 85,324,476 (GRCm39) missense possibly damaging 0.50
R0329:Fads2b UTSW 2 85,348,895 (GRCm39) missense probably benign 0.11
R0330:Fads2b UTSW 2 85,348,895 (GRCm39) missense probably benign 0.11
R0943:Fads2b UTSW 2 85,319,109 (GRCm39) missense probably damaging 0.99
R2100:Fads2b UTSW 2 85,330,593 (GRCm39) missense probably damaging 1.00
R3694:Fads2b UTSW 2 85,324,454 (GRCm39) missense probably benign 0.00
R3803:Fads2b UTSW 2 85,338,682 (GRCm39) splice site probably null
R3952:Fads2b UTSW 2 85,330,548 (GRCm39) splice site probably benign
R4161:Fads2b UTSW 2 85,348,853 (GRCm39) missense probably damaging 1.00
R4630:Fads2b UTSW 2 85,348,990 (GRCm39) nonsense probably null
R5765:Fads2b UTSW 2 85,314,538 (GRCm39) critical splice acceptor site probably null
R6104:Fads2b UTSW 2 85,338,693 (GRCm39) nonsense probably null
R6314:Fads2b UTSW 2 85,332,520 (GRCm39) missense probably benign 0.07
R6891:Fads2b UTSW 2 85,319,157 (GRCm39) missense probably damaging 1.00
R6891:Fads2b UTSW 2 85,319,149 (GRCm39) missense possibly damaging 0.80
R7027:Fads2b UTSW 2 85,315,871 (GRCm39) missense probably damaging 1.00
R7235:Fads2b UTSW 2 85,330,563 (GRCm39) missense probably damaging 1.00
R7635:Fads2b UTSW 2 85,330,581 (GRCm39) missense probably benign 0.38
R8000:Fads2b UTSW 2 85,349,070 (GRCm39) missense probably benign 0.00
R8737:Fads2b UTSW 2 85,324,387 (GRCm39) intron probably benign
R9182:Fads2b UTSW 2 85,330,581 (GRCm39) missense probably benign 0.01
R9303:Fads2b UTSW 2 85,330,649 (GRCm39) nonsense probably null
R9305:Fads2b UTSW 2 85,330,649 (GRCm39) nonsense probably null
R9315:Fads2b UTSW 2 85,319,188 (GRCm39) missense probably benign 0.06
R9319:Fads2b UTSW 2 85,320,757 (GRCm39) missense probably damaging 1.00
X0021:Fads2b UTSW 2 85,349,045 (GRCm39) missense probably benign 0.00
Z1088:Fads2b UTSW 2 85,332,421 (GRCm39) missense probably benign 0.14
Z1088:Fads2b UTSW 2 85,314,525 (GRCm39) missense probably damaging 1.00
Z1176:Fads2b UTSW 2 85,348,806 (GRCm39) missense probably benign 0.07
Posted On 2016-08-02