Incidental Mutation 'R0112:Fes'
ID 20509
Institutional Source Beutler Lab
Gene Symbol Fes
Ensembl Gene ENSMUSG00000053158
Gene Name feline sarcoma oncogene
Synonyms c-fes
MMRRC Submission 038398-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0112 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 7
Chromosomal Location 80027504-80037694 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80033753 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 166 (D166G)
Ref Sequence ENSEMBL: ENSMUSP00000145612 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080932] [ENSMUST00000205617] [ENSMUST00000206479] [ENSMUST00000206728] [ENSMUST00000206698] [ENSMUST00000206744] [ENSMUST00000206735] [ENSMUST00000206539]
AlphaFold P16879
Predicted Effect probably damaging
Transcript: ENSMUST00000080932
AA Change: D166G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000079733
Gene: ENSMUSG00000053158
AA Change: D166G

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 noncoding transcript
Transcript: ENSMUST00000146771
Predicted Effect probably damaging
Transcript: ENSMUST00000205617
AA Change: D166G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206002
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206271
Predicted Effect probably benign
Transcript: ENSMUST00000206479
AA Change: T150A

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
Predicted Effect probably damaging
Transcript: ENSMUST00000206728
AA Change: D166G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000206698
Predicted Effect probably benign
Transcript: ENSMUST00000206744
Predicted Effect probably benign
Transcript: ENSMUST00000206735
Predicted Effect probably benign
Transcript: ENSMUST00000206539
Meta Mutation Damage Score 0.1582 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 96.0%
  • 20x: 91.8%
Validation Efficiency 100% (86/86)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik T A 2: 35,244,815 (GRCm39) Y179F probably benign Het
Abcd4 A G 12: 84,659,673 (GRCm39) probably benign Het
Abhd12b C T 12: 70,227,791 (GRCm39) T191M probably benign Het
Adcy5 A G 16: 34,976,548 (GRCm39) E27G possibly damaging Het
Adgb G A 10: 10,282,902 (GRCm39) probably benign Het
Afdn T C 17: 14,104,899 (GRCm39) S1186P probably damaging Het
Atf6b G T 17: 34,870,600 (GRCm39) R351L probably damaging Het
Axin2 T C 11: 108,830,223 (GRCm39) S348P possibly damaging Het
Bfsp1 A C 2: 143,669,563 (GRCm39) probably null Het
Brd1 A G 15: 88,614,586 (GRCm39) V103A probably benign Het
Ccdc13 C A 9: 121,642,547 (GRCm39) K392N probably damaging Het
Ccdc18 A G 5: 108,321,627 (GRCm39) K577R probably damaging Het
Csmd2 G T 4: 128,389,822 (GRCm39) G2186C probably damaging Het
Cyp2j5 A T 4: 96,517,760 (GRCm39) M484K probably benign Het
Defb3 T A 8: 19,343,423 (GRCm39) L12Q probably null Het
Defb7 G T 8: 19,545,186 (GRCm39) probably null Het
Dhx35 T A 2: 158,682,540 (GRCm39) M491K probably damaging Het
Dnah17 T C 11: 117,965,260 (GRCm39) S2261G possibly damaging Het
Dnah5 A C 15: 28,263,825 (GRCm39) E853D probably benign Het
Dner C A 1: 84,560,774 (GRCm39) A23S probably benign Het
Dock5 A C 14: 68,057,090 (GRCm39) S539A probably benign Het
Dsg2 T A 18: 20,716,099 (GRCm39) F317I probably benign Het
Enox1 A T 14: 77,936,638 (GRCm39) I539F possibly damaging Het
Eogt G A 6: 97,112,245 (GRCm39) probably benign Het
Fbxo22 A G 9: 55,130,630 (GRCm39) T300A probably benign Het
Fn1 A G 1: 71,648,812 (GRCm39) S1366P probably damaging Het
Fndc3a A T 14: 72,777,935 (GRCm39) probably benign Het
Foxh1 T C 15: 76,553,210 (GRCm39) H168R probably benign Het
Galnt14 T G 17: 73,881,979 (GRCm39) probably benign Het
Gdf6 A G 4: 9,844,482 (GRCm39) D2G probably damaging Het
Gp6 C A 7: 4,373,183 (GRCm39) A247S probably benign Het
Gp6 G C 7: 4,374,626 (GRCm39) P232A probably benign Het
Grin2c A G 11: 115,141,960 (GRCm39) Y820H probably damaging Het
Gtf2h4 T C 17: 35,981,340 (GRCm39) T198A possibly damaging Het
Helz T C 11: 107,563,774 (GRCm39) probably benign Het
Htr1d A G 4: 136,170,311 (GRCm39) E180G probably benign Het
Igsf10 A G 3: 59,233,429 (GRCm39) V1768A probably benign Het
Ints10 A T 8: 69,279,954 (GRCm39) T694S probably damaging Het
Krt81 C A 15: 101,361,508 (GRCm39) R24L possibly damaging Het
Lipc T A 9: 70,727,709 (GRCm39) Y131F probably damaging Het
Litaf G T 16: 10,784,375 (GRCm39) T45K probably damaging Het
Lmo7 A T 14: 102,124,629 (GRCm39) R363* probably null Het
Lrrc37a A T 11: 103,391,739 (GRCm39) Y1229N probably benign Het
Man2a2 C T 7: 80,008,024 (GRCm39) A943T probably damaging Het
Mtor A G 4: 148,565,380 (GRCm39) Y1030C probably damaging Het
Naalad2 G T 9: 18,262,743 (GRCm39) Y384* probably null Het
Nat2 C T 8: 67,954,378 (GRCm39) Q163* probably null Het
Nell2 A G 15: 95,329,562 (GRCm39) probably benign Het
Nphp3 C T 9: 103,914,547 (GRCm39) H102Y possibly damaging Het
Olr1 T C 6: 129,465,869 (GRCm39) S46G possibly damaging Het
Or2y13 A T 11: 49,414,961 (GRCm39) H137L possibly damaging Het
Or52x1 A T 7: 104,852,866 (GRCm39) M228K probably benign Het
Or5b94 C T 19: 12,652,121 (GRCm39) T184I probably benign Het
Parg C A 14: 31,924,390 (GRCm39) A63E probably damaging Het
Pik3cg A G 12: 32,245,714 (GRCm39) probably benign Het
Ripk4 A G 16: 97,544,761 (GRCm39) C629R probably benign Het
Rnf145 A G 11: 44,454,978 (GRCm39) T620A probably benign Het
Rskr T C 11: 78,182,507 (GRCm39) probably benign Het
Samd9l T G 6: 3,376,031 (GRCm39) D410A possibly damaging Het
Serpinb9f A T 13: 33,511,934 (GRCm39) probably benign Het
Slc19a1 T C 10: 76,877,999 (GRCm39) I178T probably benign Het
Slco1b2 A T 6: 141,616,837 (GRCm39) Y390F probably benign Het
Speg A G 1: 75,361,676 (GRCm39) E230G possibly damaging Het
Tbc1d9 C A 8: 83,991,466 (GRCm39) probably benign Het
Tmem131l G A 3: 83,847,894 (GRCm39) Q324* probably null Het
Trf A G 9: 103,104,155 (GRCm39) probably benign Het
Trp53 T G 11: 69,479,505 (GRCm39) Y202D probably damaging Het
Trpv1 T A 11: 73,144,098 (GRCm39) M618K probably damaging Het
Trrap C A 5: 144,759,571 (GRCm39) Y2250* probably null Het
Ttc3 A G 16: 94,186,181 (GRCm39) probably benign Het
Ubtfl1 T G 9: 18,321,083 (GRCm39) S204A probably benign Het
Uck2 A T 1: 167,055,340 (GRCm39) Y203N probably damaging Het
Utrn A T 10: 12,562,209 (GRCm39) L1280* probably null Het
Vmn1r178 A T 7: 23,593,609 (GRCm39) H146L possibly damaging Het
Vmn2r100 C A 17: 19,742,382 (GRCm39) P252Q possibly damaging Het
Vmn2r108 T C 17: 20,691,897 (GRCm39) M209V probably benign Het
Vmn2r9 G A 5: 108,990,991 (GRCm39) T790I probably damaging Het
Vmn2r94 C A 17: 18,463,866 (GRCm39) R808L probably benign Het
Zbtb7c A T 18: 76,269,962 (GRCm39) S17C probably damaging Het
Zfp811 C T 17: 33,016,738 (GRCm39) R434Q probably damaging Het
Zkscan6 A T 11: 65,705,689 (GRCm39) probably benign 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
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
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'- AAACCCTGTCTCCCCAAGGCTTAG -3'
(R):5'- GCCAGCAAAGGTTCGCTCTTCTTC -3'

Sequencing Primer
(F):5'- ACTGTTGGTTAGACAGCACC -3'
(R):5'- TTCCTGGCAGGGAGAAAACC -3'
Posted On 2013-04-11