Incidental Mutation 'R0863:Fes'
ID 82191
Institutional Source Beutler Lab
Gene Symbol Fes
Ensembl Gene ENSMUSG00000053158
Gene Name feline sarcoma oncogene
Synonyms c-fes
MMRRC Submission 039037-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0863 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 80027504-80037694 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 80030634 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 552 (W552R)
Ref Sequence ENSEMBL: ENSMUSP00000146041 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080932] [ENSMUST00000205617] [ENSMUST00000206479] [ENSMUST00000206539] [ENSMUST00000206728] [ENSMUST00000206735] [ENSMUST00000206744]
AlphaFold P16879
Predicted Effect probably damaging
Transcript: ENSMUST00000080932
AA Change: W554R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000079733
Gene: ENSMUSG00000053158
AA Change: W554R

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 benign
Transcript: ENSMUST00000206539
Predicted Effect probably damaging
Transcript: ENSMUST00000206728
AA Change: W552R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000206735
Predicted Effect probably benign
Transcript: ENSMUST00000206744
Meta Mutation Damage Score 0.8880 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.9%
  • 10x: 97.4%
  • 20x: 94.8%
Validation Efficiency 94% (59/63)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310016G11Rik A G 7: 44,327,232 (GRCm39) noncoding transcript Het
4930433I11Rik A T 7: 40,642,480 (GRCm39) T141S probably benign Het
Abca14 A T 7: 119,815,453 (GRCm39) T234S probably benign Het
Acap1 C A 11: 69,777,882 (GRCm39) V119L probably damaging Het
Actr2 C T 11: 20,030,760 (GRCm39) V163I probably benign Het
Adcy4 T C 14: 56,021,056 (GRCm39) Y27C probably damaging Het
Arnt2 T A 7: 83,914,792 (GRCm39) K524M probably damaging Het
Brca1 T C 11: 101,415,596 (GRCm39) Y846C probably benign Het
Capn7 T A 14: 31,091,714 (GRCm39) C704S possibly damaging Het
Cep350 T A 1: 155,737,981 (GRCm39) I2621L probably benign Het
Col11a1 G A 3: 113,932,414 (GRCm39) R113H unknown Het
Ctnnbl1 C T 2: 157,641,337 (GRCm39) probably benign Het
Cul9 T C 17: 46,848,748 (GRCm39) probably null Het
Erc2 A C 14: 27,747,105 (GRCm39) N345T probably benign Het
Fank1 A G 7: 133,482,352 (GRCm39) R73G possibly damaging Het
Fsd2 A G 7: 81,191,913 (GRCm39) V488A possibly damaging Het
Gfm1 T C 3: 67,381,928 (GRCm39) S705P probably damaging Het
Gm9493 A T 19: 23,597,173 (GRCm39) Q23L probably benign Het
Gucy1b2 T C 14: 62,656,511 (GRCm39) D282G probably benign Het
H2-Ab1 T C 17: 34,486,328 (GRCm39) I129T probably damaging Het
H2-M10.3 T A 17: 36,677,582 (GRCm39) Y232F probably damaging Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Lonp1 T C 17: 56,925,331 (GRCm39) K487R probably damaging Het
Ltbp1 A G 17: 75,559,381 (GRCm39) Y290C probably damaging Het
Ms4a10 C T 19: 10,945,957 (GRCm39) G58D probably damaging Het
Muc5b A G 7: 141,421,454 (GRCm39) S4315G probably benign Het
Nlrp1b T A 11: 71,072,173 (GRCm39) T557S probably benign Het
Nlrp3 A G 11: 59,456,676 (GRCm39) D946G probably benign Het
Obscn T C 11: 58,886,241 (GRCm39) probably benign Het
Oga C T 19: 45,771,425 (GRCm39) A49T probably benign Het
Or10ab5 A G 7: 108,244,865 (GRCm39) I306T probably benign Het
Or5p50 T C 7: 107,422,581 (GRCm39) S32G probably benign Het
Or7e173 A T 9: 19,938,509 (GRCm39) S242T probably damaging Het
Pask A T 1: 93,242,061 (GRCm39) F1219I probably damaging Het
Pcdhb2 G A 18: 37,428,710 (GRCm39) V228I possibly damaging Het
Phf1 T C 17: 27,156,114 (GRCm39) probably benign Het
Plec G A 15: 76,058,280 (GRCm39) Q3751* probably null Het
Plscr1l1 A T 9: 92,233,140 (GRCm39) I88L possibly damaging Het
Ppp1r12c G T 7: 4,489,365 (GRCm39) Q240K probably damaging Het
Ralgapa1 A T 12: 55,809,466 (GRCm39) Y436* probably null Het
Ralgapa1 C A 12: 55,829,562 (GRCm39) probably benign Het
Scel T A 14: 103,823,916 (GRCm39) S381R possibly damaging Het
Sema4a C T 3: 88,355,456 (GRCm39) probably benign Het
Sltm A G 9: 70,469,190 (GRCm39) T150A probably benign Het
Spag1 G T 15: 36,192,193 (GRCm39) K217N probably damaging Het
Ssh1 C T 5: 114,104,792 (GRCm39) R9H probably damaging Het
St3gal4 C A 9: 34,964,744 (GRCm39) V155F probably damaging Het
Stxbp5 C T 10: 9,684,784 (GRCm39) E539K possibly damaging Het
Tbc1d7 G T 13: 43,308,161 (GRCm39) probably benign Het
Thnsl2 A T 6: 71,111,208 (GRCm39) L220* probably null Het
Tinf2 G A 14: 55,917,566 (GRCm39) P308S probably benign Het
Tnf T C 17: 35,420,120 (GRCm39) probably benign Het
Ttc21b T C 2: 66,073,117 (GRCm39) I190V probably benign Het
Ttn T C 2: 76,537,391 (GRCm39) T34846A probably benign Het
Ube4a A G 9: 44,861,114 (GRCm39) V232A possibly damaging Het
Uri1 A T 7: 37,669,100 (GRCm39) D122E probably damaging Het
Vmn2r94 T G 17: 18,477,973 (GRCm39) Q146P probably damaging Het
Zan T A 5: 137,456,901 (GRCm39) E1278D unknown Het
Zfhx4 T A 3: 5,310,375 (GRCm39) S919R 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
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
R1174:Fes UTSW 7 80,027,699 (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 PCR Primer
(F):5'- TGTGCCACCTCCTCTAAGAAGTGAC -3'
(R):5'- TGGGCCATAGATATCAGCCTGATCC -3'

Sequencing Primer
(F):5'- aatcacttttctttgggttggg -3'
(R):5'- CCTGATCCCCAGATTATTTCAGTG -3'
Posted On 2013-11-08