Incidental Mutation 'IGL03152:Fads2b'
ID 411123
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 # IGL03152
Quality Score
Status
Chromosome 2
Chromosomal Location 85314436-85349279 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 85330648 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 220 (S220P)
Ref Sequence ENSEMBL: ENSMUSP00000097507 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099923]
AlphaFold Q0VAX3
Predicted Effect probably damaging
Transcript: ENSMUST00000099923
AA Change: S220P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097507
Gene: ENSMUSG00000075217
AA Change: S220P

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
Cacna2d1 T A 5: 16,527,566 (GRCm39) N540K probably benign Het
Caln1 A G 5: 130,646,693 (GRCm39) E43G probably damaging Het
Car14 A C 3: 95,806,157 (GRCm39) C301W probably damaging Het
Clpx G A 9: 65,217,458 (GRCm39) V9I possibly damaging Het
Edar A G 10: 58,445,817 (GRCm39) F249S possibly damaging Het
Fhip2a C A 19: 57,367,264 (GRCm39) T269K probably damaging Het
Gm4799 A G 10: 82,790,797 (GRCm39) noncoding transcript Het
Grk4 T C 5: 34,902,701 (GRCm39) S418P probably damaging Het
Kcnh4 A G 11: 100,636,598 (GRCm39) S774P probably benign Het
Kif23 A G 9: 61,837,058 (GRCm39) probably benign Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Myef2l A T 3: 10,153,334 (GRCm39) K34N probably benign Het
Or5al1 A T 2: 85,990,030 (GRCm39) I228N possibly damaging Het
Pcgf6 A T 19: 47,037,344 (GRCm39) probably benign Het
Ryr2 G A 13: 11,868,036 (GRCm39) R265C probably damaging Het
Smgc A G 15: 91,725,625 (GRCm39) K2R possibly damaging Het
Stx5a T C 19: 8,727,138 (GRCm39) probably null Het
Syne2 A T 12: 76,012,486 (GRCm39) N2560I probably benign Het
Tuba3a A T 6: 125,258,300 (GRCm39) L230Q probably damaging Het
Tubb4b-ps1 A G 5: 7,230,001 (GRCm39) probably benign Het
Zfp217 A G 2: 169,960,972 (GRCm39) S452P probably damaging Het
Zfp764l1 A G 7: 126,991,469 (GRCm39) C173R probably damaging Het
Zzef1 G A 11: 72,814,008 (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
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 2016-08-02