Incidental Mutation 'IGL02348:Fads2b'
ID 289386
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 # IGL02348
Quality Score
Status
Chromosome 2
Chromosomal Location 85314436-85349279 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 85323640 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 298 (I298V)
Ref Sequence ENSEMBL: ENSMUSP00000097507 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099923]
AlphaFold Q0VAX3
Predicted Effect possibly damaging
Transcript: ENSMUST00000099923
AA Change: I298V

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000097507
Gene: ENSMUSG00000075217
AA Change: I298V

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap12 G A 10: 4,304,722 (GRCm39) D511N probably damaging Het
Akt3 T A 1: 176,886,952 (GRCm39) D299V probably damaging Het
Arfgef3 G A 10: 18,467,095 (GRCm39) P2035L probably benign Het
Atp13a3 C T 16: 30,170,046 (GRCm39) probably null Het
Capn9 C A 8: 125,321,416 (GRCm39) P151T probably damaging Het
Csrnp1 T A 9: 119,801,709 (GRCm39) D450V probably damaging Het
Ctrb1 C T 8: 112,413,762 (GRCm39) A201T possibly damaging Het
Erp27 T C 6: 136,888,544 (GRCm39) T145A probably damaging Het
Fanca A T 8: 124,032,002 (GRCm39) L256Q probably damaging Het
Fars2 G A 13: 36,721,354 (GRCm39) V433I probably benign Het
Fbxo9 T A 9: 78,016,289 (GRCm39) M1L probably benign Het
Fcnb C A 2: 27,974,842 (GRCm39) V10F possibly damaging Het
Gad2 C T 2: 22,519,405 (GRCm39) H175Y probably damaging Het
Get4 G A 5: 139,238,254 (GRCm39) G12D probably benign Het
Gmpr2 T A 14: 55,915,758 (GRCm39) I312N probably damaging Het
Golm1 T A 13: 59,786,191 (GRCm39) M334L probably benign Het
Itgam T A 7: 127,715,472 (GRCm39) F1054L possibly damaging Het
Kcnk7 C A 19: 5,756,501 (GRCm39) probably benign Het
Kif3b G A 2: 153,158,813 (GRCm39) A205T probably damaging Het
Macf1 C T 4: 123,406,659 (GRCm39) V276M probably damaging Het
Mdga2 T A 12: 66,597,349 (GRCm39) N715I probably damaging Het
Mfap5 T A 6: 122,503,746 (GRCm39) S103R possibly damaging Het
Nckap1 C T 2: 80,348,326 (GRCm39) V876M probably damaging Het
Ncor1 A T 11: 62,224,485 (GRCm39) probably benign Het
Nfya G A 17: 48,700,304 (GRCm39) Q122* probably null Het
Nup210l G A 3: 90,011,471 (GRCm39) probably benign Het
Or5h22 T G 16: 58,895,312 (GRCm39) I44L probably damaging Het
Pcdhb19 T A 18: 37,631,861 (GRCm39) L552Q probably damaging Het
Psmd2 T A 16: 20,473,397 (GRCm39) S153T probably benign Het
Ptpn4 T C 1: 119,610,452 (GRCm39) Y685C probably damaging Het
Rad54l2 T C 9: 106,597,575 (GRCm39) R144G probably damaging Het
S1pr4 A C 10: 81,334,855 (GRCm39) Y206* probably null Het
Slc39a14 A G 14: 70,553,885 (GRCm39) probably null Het
Stx2 G A 5: 129,065,894 (GRCm39) A254V probably damaging Het
Sumf2 G T 5: 129,888,711 (GRCm39) G216C probably damaging Het
Tbc1d32 A G 10: 56,100,715 (GRCm39) S88P probably benign Het
Trem1 T A 17: 48,539,824 (GRCm39) M1K probably null Het
Trmt1l T C 1: 151,325,757 (GRCm39) Y401H probably damaging Het
Ttc22 A T 4: 106,480,135 (GRCm39) M130L probably damaging Het
Wnk1 T C 6: 119,940,289 (GRCm39) E816G probably damaging Het
Wnt9b C T 11: 103,622,908 (GRCm39) G165D probably damaging Het
Zscan21 A G 5: 138,131,645 (GRCm39) T390A probably damaging Het
Zswim7 G T 11: 62,159,581 (GRCm39) C85* probably null Het
Other mutations in Fads2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01754:Fads2b APN 2 85,348,899 (GRCm39) missense probably damaging 1.00
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
IGL03283:Fads2b APN 2 85,320,751 (GRCm39) missense probably damaging 1.00
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 2015-04-16