Incidental Mutation 'IGL01754:Fads2b'
ID 153417
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 # IGL01754
Quality Score
Status
Chromosome 2
Chromosomal Location 85314436-85349279 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 85348899 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 71 (Q71R)
Ref Sequence ENSEMBL: ENSMUSP00000097507 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099923]
AlphaFold Q0VAX3
Predicted Effect probably damaging
Transcript: ENSMUST00000099923
AA Change: Q71R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097507
Gene: ENSMUSG00000075217
AA Change: Q71R

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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adat1 A G 8: 112,708,942 (GRCm39) C294R probably damaging Het
Afap1l1 A G 18: 61,870,565 (GRCm39) probably null Het
Art2a C T 7: 101,204,059 (GRCm39) V160M probably damaging Het
Atp8b3 T C 10: 80,366,795 (GRCm39) probably null Het
Cwc22 A G 2: 77,754,883 (GRCm39) I231T probably damaging Het
Efr3a C A 15: 65,726,569 (GRCm39) A554E probably damaging Het
Fam3b T C 16: 97,277,607 (GRCm39) T76A probably benign Het
Fhdc1 G A 3: 84,352,042 (GRCm39) A1061V possibly damaging Het
Gm4454 T C 7: 38,268,386 (GRCm39) T253A probably damaging Het
Gpsm2 C T 3: 108,610,361 (GRCm39) R33H probably damaging Het
Igkv5-39 A G 6: 69,877,661 (GRCm39) S12P probably damaging Het
Itga10 G A 3: 96,564,091 (GRCm39) probably benign Het
Kng1 A T 16: 22,898,364 (GRCm39) D407V probably benign Het
Lrrd1 A G 5: 3,901,432 (GRCm39) D579G probably damaging Het
Plcg1 C A 2: 160,603,353 (GRCm39) Q1175K probably damaging Het
Scml4 T A 10: 42,833,746 (GRCm39) probably benign Het
Slc26a4 C T 12: 31,578,853 (GRCm39) probably benign Het
Slc5a4b A G 10: 75,906,449 (GRCm39) L390P probably damaging Het
Tectb A G 19: 55,172,445 (GRCm39) Q164R probably damaging Het
Trim52 C T 14: 106,344,623 (GRCm39) Q94* probably null Het
Usp17ld A C 7: 102,899,870 (GRCm39) V354G probably benign Het
Usp43 T C 11: 67,747,007 (GRCm39) H895R probably benign Het
Vmn2r24 T C 6: 123,781,120 (GRCm39) L442P probably damaging Het
Other mutations in Fads2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2014-02-04