Incidental Mutation 'R1174:Fes'
ID 99813
Institutional Source Beutler Lab
Gene Symbol Fes
Ensembl Gene ENSMUSG00000053158
Gene Name feline sarcoma oncogene
Synonyms c-fes
MMRRC Submission 039247-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1174 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 80027504-80037694 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 80027699 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 815 (I815N)
Ref Sequence ENSEMBL: ENSMUSP00000146041 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080932] [ENSMUST00000205617] [ENSMUST00000206479] [ENSMUST00000206728] [ENSMUST00000206735] [ENSMUST00000206744]
AlphaFold P16879
Predicted Effect probably damaging
Transcript: ENSMUST00000080932
AA Change: I817N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000079733
Gene: ENSMUSG00000053158
AA Change: I817N

DomainStartEndE-ValueType
FCH 1 94 2.22e-26 SMART
coiled coil region 133 165 N/A INTRINSIC
coiled coil region 320 344 N/A INTRINSIC
SH2 458 536 8.41e-26 SMART
TyrKc 561 814 1.57e-144 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000205617
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206002
Predicted Effect probably benign
Transcript: ENSMUST00000206479
Predicted Effect probably damaging
Transcript: ENSMUST00000206728
AA Change: I815N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000206735
Predicted Effect probably benign
Transcript: ENSMUST00000206744
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.4%
  • 20x: 89.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the human cellular counterpart of a feline sarcoma retrovirus protein with transforming capabilities. The gene product has tyrosine-specific protein kinase activity and that activity is required for maintenance of cellular transformation. Its chromosomal location has linked it to a specific translocation event identified in patients with acute promyelocytic leukemia but it is also involved in normal hematopoiesis as well as growth factor and cytokine receptor signaling. Alternative splicing results in multiple variants encoding different isoforms.[provided by RefSeq, Jan 2009]
PHENOTYPE: Homozygotes for a null allele show partial in utero lethality, runting, altered hematopoietic homeostasis and macrophage function, skin lesions and susceptibility to bacterial infection. Homozygotes for another null allele show enhanced LPS sensitivity, altered hematopoiesis and larger litter size. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610318N02Rik T A 16: 16,935,446 (GRCm39) H214L probably benign Het
Actn3 A G 19: 4,914,784 (GRCm39) L477P probably damaging Het
Adamts12 T C 15: 11,071,843 (GRCm39) V129A probably benign Het
Agxt2 T C 15: 10,373,837 (GRCm39) F81S probably damaging Het
Alpk1 T A 3: 127,474,459 (GRCm39) S515C probably damaging Het
Aoc1l3 C A 6: 48,967,173 (GRCm39) P707H probably damaging Het
Bivm A G 1: 44,165,942 (GRCm39) T131A probably benign Het
Borcs5 T A 6: 134,687,096 (GRCm39) N150K probably damaging Het
Cdh20 G A 1: 109,988,862 (GRCm39) V255I probably benign Het
Cox4i1 C A 8: 121,400,789 (GRCm39) N151K probably benign Het
Cpeb4 T C 11: 31,870,472 (GRCm39) L432P probably damaging Het
Dnajb11 T A 16: 22,689,423 (GRCm39) D281E probably damaging Het
Eml6 A G 11: 29,699,824 (GRCm39) S1771P possibly damaging Het
Ghrhr T A 6: 55,365,254 (GRCm39) L416* probably null Het
Glipr1l2 C A 10: 111,919,371 (GRCm39) L31I possibly damaging Het
Gm1818 A G 12: 48,602,982 (GRCm39) noncoding transcript Het
Gpr149 A G 3: 62,511,888 (GRCm39) L37P probably damaging Het
Hdac1-ps A T 17: 78,799,507 (GRCm39) Y166F probably benign Het
Hoxa9 A G 6: 52,202,693 (GRCm39) I131T probably damaging Het
Idh1 G T 1: 65,200,319 (GRCm39) N348K probably benign Het
Klf6 A G 13: 5,911,711 (GRCm39) D25G probably benign Het
Laptm4a T C 12: 8,986,716 (GRCm39) V258A probably damaging Het
Lypd6b C T 2: 49,833,609 (GRCm39) A83V possibly damaging Het
Map3k19 A G 1: 127,751,617 (GRCm39) V578A probably benign Het
Mfsd13a T A 19: 46,363,125 (GRCm39) I511N probably benign Het
Mrm3 T C 11: 76,140,850 (GRCm39) V286A probably damaging Het
Muc6 C T 7: 141,234,368 (GRCm39) G708S probably damaging Het
Neurl4 T C 11: 69,794,547 (GRCm39) probably null Het
Pclo T C 5: 14,727,660 (GRCm39) probably benign Het
Pcnt A T 10: 76,228,878 (GRCm39) probably null Het
Pik3r4 G T 9: 105,540,373 (GRCm39) G754C probably damaging Het
Qtrt1 A G 9: 21,323,782 (GRCm39) T136A probably benign Het
Rgs12 T A 5: 35,123,809 (GRCm39) C531S probably benign Het
Rin1 C A 19: 5,105,231 (GRCm39) Q764K probably benign Het
Robo4 C T 9: 37,324,348 (GRCm39) R959W probably damaging Het
Rxfp2 T C 5: 149,975,021 (GRCm39) V210A probably benign Het
Serpinb9d C T 13: 33,384,608 (GRCm39) P195L probably benign Het
Sos1 A C 17: 80,753,037 (GRCm39) Y323* probably null Het
Spmip4 T A 6: 50,566,121 (GRCm39) K118M probably damaging Het
Ssxb8 T G X: 8,556,062 (GRCm39) H88P probably damaging Het
Tas2r140 T C 6: 133,031,834 (GRCm39) E308G probably benign Het
Tdo2 A T 3: 81,881,683 (GRCm39) S40R probably damaging Het
Tle4 C T 19: 14,445,626 (GRCm39) V207I probably benign Het
Txlnb A G 10: 17,718,504 (GRCm39) N445S probably benign Het
Ubap2l A T 3: 89,930,807 (GRCm39) S413T probably benign Het
Vangl2 G T 1: 171,832,353 (GRCm39) T501N probably damaging Het
Vmn2r12 A T 5: 109,240,720 (GRCm39) I131N probably benign Het
Vwa1 C T 4: 155,857,723 (GRCm39) G25D probably damaging Het
Zfp185 A T X: 72,042,929 (GRCm39) E138D possibly damaging Het
Other mutations in Fes
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01470:Fes APN 7 80,033,021 (GRCm39) missense probably benign 0.01
IGL01654:Fes APN 7 80,036,558 (GRCm39) critical splice donor site probably null
IGL02350:Fes APN 7 80,033,578 (GRCm39) splice site probably null
IGL02357:Fes APN 7 80,033,578 (GRCm39) splice site probably null
IGL02811:Fes APN 7 80,029,589 (GRCm39) missense probably damaging 1.00
BB009:Fes UTSW 7 80,029,620 (GRCm39) missense probably damaging 0.99
BB019:Fes UTSW 7 80,029,620 (GRCm39) missense probably damaging 0.99
R0112:Fes UTSW 7 80,033,753 (GRCm39) missense probably damaging 0.99
R0114:Fes UTSW 7 80,027,783 (GRCm39) missense probably damaging 0.99
R0143:Fes UTSW 7 80,033,643 (GRCm39) missense probably benign 0.00
R0786:Fes UTSW 7 80,036,668 (GRCm39) missense probably damaging 1.00
R0863:Fes UTSW 7 80,030,634 (GRCm39) missense probably damaging 1.00
R0918:Fes UTSW 7 80,030,953 (GRCm39) missense probably damaging 1.00
R1167:Fes UTSW 7 80,032,857 (GRCm39) missense probably damaging 1.00
R1674:Fes UTSW 7 80,027,686 (GRCm39) missense probably benign 0.04
R1898:Fes UTSW 7 80,029,659 (GRCm39) missense probably damaging 1.00
R1908:Fes UTSW 7 80,036,609 (GRCm39) missense probably damaging 0.98
R1909:Fes UTSW 7 80,036,609 (GRCm39) missense probably damaging 0.98
R1922:Fes UTSW 7 80,033,734 (GRCm39) nonsense probably null
R2209:Fes UTSW 7 80,030,031 (GRCm39) missense probably damaging 1.00
R2242:Fes UTSW 7 80,031,473 (GRCm39) missense probably damaging 1.00
R3012:Fes UTSW 7 80,036,915 (GRCm39) missense possibly damaging 0.81
R4607:Fes UTSW 7 80,036,959 (GRCm39) missense probably damaging 1.00
R4608:Fes UTSW 7 80,036,959 (GRCm39) missense probably damaging 1.00
R4982:Fes UTSW 7 80,036,952 (GRCm39) missense probably damaging 1.00
R5516:Fes UTSW 7 80,036,931 (GRCm39) missense probably damaging 1.00
R6120:Fes UTSW 7 80,030,615 (GRCm39) missense probably damaging 1.00
R6148:Fes UTSW 7 80,030,044 (GRCm39) missense probably damaging 1.00
R7161:Fes UTSW 7 80,030,609 (GRCm39) missense probably damaging 0.98
R7401:Fes UTSW 7 80,028,524 (GRCm39) critical splice donor site probably null
R7408:Fes UTSW 7 80,028,410 (GRCm39) missense probably damaging 1.00
R7761:Fes UTSW 7 80,030,615 (GRCm39) missense probably damaging 1.00
R7932:Fes UTSW 7 80,029,620 (GRCm39) missense probably damaging 0.99
R8261:Fes UTSW 7 80,032,902 (GRCm39) missense probably null 1.00
R8815:Fes UTSW 7 80,033,619 (GRCm39) missense possibly damaging 0.89
R8903:Fes UTSW 7 80,036,559 (GRCm39) unclassified probably benign
R8936:Fes UTSW 7 80,031,473 (GRCm39) missense probably damaging 1.00
R9012:Fes UTSW 7 80,032,884 (GRCm39) missense possibly damaging 0.78
R9174:Fes UTSW 7 80,030,631 (GRCm39) missense probably damaging 0.98
R9200:Fes UTSW 7 80,032,140 (GRCm39) missense probably benign 0.00
R9679:Fes UTSW 7 80,033,050 (GRCm39) missense probably benign 0.04
Z1177:Fes UTSW 7 80,027,778 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2014-01-15