Incidental Mutation 'IGL03340:Fads2'
ID 417192
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fads2
Ensembl Gene ENSMUSG00000024665
Gene Name fatty acid desaturase 2
Synonyms Fads2a, 2900042M13Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.834) question?
Stock # IGL03340
Quality Score
Status
Chromosome 19
Chromosomal Location 10040129-10078867 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 10069136 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 96 (P96Q)
Ref Sequence ENSEMBL: ENSMUSP00000025567 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025567]
AlphaFold Q9Z0R9
Predicted Effect possibly damaging
Transcript: ENSMUST00000025567
AA Change: P96Q

PolyPhen 2 Score 0.756 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000025567
Gene: ENSMUSG00000024665
AA Change: P96Q

DomainStartEndE-ValueType
Cyt-b5 21 95 1.63e-19 SMART
transmembrane domain 124 143 N/A INTRINSIC
Pfam:FA_desaturase 156 418 5.2e-36 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a null allele display absence of long-chain polyunsaturated fatty acids, infertility, arrest of spermiogenesis and folliculogenesis, and impaired platelet function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700097O09Rik A G 12: 55,126,786 (GRCm39) L26P probably benign Het
Aff1 A T 5: 103,931,670 (GRCm39) H104L possibly damaging Het
Apon T C 10: 128,090,847 (GRCm39) I175T probably benign Het
C2cd6 A C 1: 59,115,830 (GRCm39) F168V probably benign Het
Cgn C T 3: 94,685,405 (GRCm39) probably benign Het
Cramp1 G A 17: 25,192,516 (GRCm39) P956L probably damaging Het
Cyp2e1 G A 7: 140,344,767 (GRCm39) V78M probably damaging Het
Cyp4b1 G A 4: 115,499,076 (GRCm39) P97S probably damaging Het
Fcer2a T C 8: 3,738,310 (GRCm39) D120G possibly damaging Het
Fhip1b A G 7: 105,038,517 (GRCm39) S241P probably damaging Het
Gm21972 G T 1: 86,061,450 (GRCm39) A887S probably damaging Het
Grk6 A G 13: 55,601,003 (GRCm39) D295G probably damaging Het
Herc2 T A 7: 55,740,668 (GRCm39) V270D possibly damaging Het
Kcnk2 T A 1: 189,027,878 (GRCm39) I126F possibly damaging Het
Kifap3 T G 1: 163,656,718 (GRCm39) V346G possibly damaging Het
Kpna1 T A 16: 35,820,616 (GRCm39) N20K probably damaging Het
Krt33b A G 11: 99,916,298 (GRCm39) probably benign Het
Krtap9-5 T C 11: 99,839,427 (GRCm39) C43R possibly damaging Het
Lars1 G A 18: 42,361,715 (GRCm39) probably benign Het
Lifr T C 15: 7,207,417 (GRCm39) W540R probably benign Het
Lrp1b A G 2: 41,358,981 (GRCm39) S631P probably damaging Het
Mbd1 G T 18: 74,407,553 (GRCm39) R111L probably benign Het
Meltf C T 16: 31,711,602 (GRCm39) T576M probably damaging Het
Mmp20 G A 9: 7,643,995 (GRCm39) G228S probably damaging Het
Mob4 A G 1: 55,175,867 (GRCm39) D37G possibly damaging Het
Msr1 T C 8: 40,073,048 (GRCm39) K234E possibly damaging Het
Myof A G 19: 37,899,607 (GRCm39) V1764A probably damaging Het
Naaladl1 A G 19: 6,156,229 (GRCm39) Y105C possibly damaging Het
Nisch A G 14: 30,895,101 (GRCm39) V1065A probably damaging Het
Npas4 A T 19: 5,035,094 (GRCm39) probably benign Het
Or4c124 T C 2: 89,156,039 (GRCm39) T162A possibly damaging Het
Pdss2 A G 10: 43,269,997 (GRCm39) D280G probably benign Het
Plk3 A G 4: 116,990,125 (GRCm39) I182T probably damaging Het
Ppm1k A G 6: 57,487,711 (GRCm39) W371R probably damaging Het
Samm50 T C 15: 84,082,864 (GRCm39) probably null Het
Scaper G T 9: 55,510,116 (GRCm39) T640K possibly damaging Het
Sun3 A C 11: 8,973,285 (GRCm39) probably benign Het
Svep1 T A 4: 58,111,451 (GRCm39) K1056M possibly damaging Het
Tgs1 C A 4: 3,604,813 (GRCm39) P745Q probably benign Het
Tomm20l A T 12: 71,164,388 (GRCm39) probably benign Het
Usp38 A C 8: 81,738,905 (GRCm39) L237V probably damaging Het
Vmn1r210 T C 13: 23,011,644 (GRCm39) Y214C probably benign Het
Zan G A 5: 137,426,136 (GRCm39) P2547S unknown Het
Other mutations in Fads2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00931:Fads2 APN 19 10,043,649 (GRCm39) missense probably benign 0.02
IGL02801:Fads2 APN 19 10,060,009 (GRCm39) missense possibly damaging 0.88
sound UTSW 19 10,041,649 (GRCm39) missense probably damaging 1.00
PIT4677001:Fads2 UTSW 19 10,047,694 (GRCm39) missense probably damaging 1.00
R1437:Fads2 UTSW 19 10,069,193 (GRCm39) missense probably benign 0.00
R4827:Fads2 UTSW 19 10,059,958 (GRCm39) missense probably benign 0.03
R5367:Fads2 UTSW 19 10,041,649 (GRCm39) missense probably damaging 1.00
R5872:Fads2 UTSW 19 10,059,997 (GRCm39) missense probably benign 0.00
R7062:Fads2 UTSW 19 10,042,962 (GRCm39) splice site probably null
R9189:Fads2 UTSW 19 10,069,183 (GRCm39) missense probably benign
R9733:Fads2 UTSW 19 10,047,940 (GRCm39) missense probably damaging 0.99
Posted On 2016-08-02