Incidental Mutation 'R2200:Fus'
ID 238608
Institutional Source Beutler Lab
Gene Symbol Fus
Ensembl Gene ENSMUSG00000030795
Gene Name fused in sarcoma
Synonyms D930039C12Rik, translocated in liposarcoma, pigpen, hnRNP P2, Tls, D430004D17Rik
MMRRC Submission 040202-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2200 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 127565276-127581204 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 127576400 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 273 (N273K)
Ref Sequence ENSEMBL: ENSMUSP00000076801 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077609] [ENSMUST00000106251] [ENSMUST00000121616]
AlphaFold P56959
Predicted Effect probably damaging
Transcript: ENSMUST00000077609
AA Change: N273K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000076801
Gene: ENSMUSG00000030795
AA Change: N273K

DomainStartEndE-ValueType
low complexity region 20 44 N/A INTRINSIC
low complexity region 48 67 N/A INTRINSIC
low complexity region 72 104 N/A INTRINSIC
low complexity region 110 179 N/A INTRINSIC
low complexity region 185 253 N/A INTRINSIC
RRM 278 359 3.85e-16 SMART
ZnF_RBZ 416 442 9e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106251
AA Change: N274K

PolyPhen 2 Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000101858
Gene: ENSMUSG00000030795
AA Change: N274K

DomainStartEndE-ValueType
low complexity region 20 44 N/A INTRINSIC
low complexity region 47 63 N/A INTRINSIC
low complexity region 73 105 N/A INTRINSIC
low complexity region 111 180 N/A INTRINSIC
low complexity region 186 254 N/A INTRINSIC
RRM 279 360 3.85e-16 SMART
ZnF_RBZ 417 443 9e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000121616
SMART Domains Protein: ENSMUSP00000112721
Gene: ENSMUSG00000030795

DomainStartEndE-ValueType
low complexity region 20 44 N/A INTRINSIC
low complexity region 47 63 N/A INTRINSIC
low complexity region 73 105 N/A INTRINSIC
low complexity region 111 176 N/A INTRINSIC
ZnF_RBZ 179 205 9e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123151
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128851
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136289
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174196
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205261
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205351
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154843
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172755
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155941
Predicted Effect probably benign
Transcript: ENSMUST00000141997
SMART Domains Protein: ENSMUSP00000134447
Gene: ENSMUSG00000030795

DomainStartEndE-ValueType
ZnF_RBZ 15 41 9e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174632
SMART Domains Protein: ENSMUSP00000133820
Gene: ENSMUSG00000030795

DomainStartEndE-ValueType
Pfam:RRM_1 6 56 6.6e-9 PFAM
ZnF_RBZ 77 103 9e-4 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired lymphocyte development, chromosomal instability, increased cellular radiation sensitivity, high neonatal mortality, and male sterility associated with lack of chromosomal pairing. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acer1 T C 17: 57,265,423 (GRCm39) I135M probably benign Het
Ano7 A G 1: 93,308,158 (GRCm39) E63G possibly damaging Het
Asah1 A G 8: 41,796,765 (GRCm39) probably null Het
B3gat2 C T 1: 23,801,873 (GRCm39) P53L probably benign Het
Bmp8b A T 4: 123,016,815 (GRCm39) M339L possibly damaging Het
Bpifb9b C A 2: 154,155,574 (GRCm39) Q358K probably benign Het
Cbs T C 17: 31,843,238 (GRCm39) D231G probably damaging Het
Chd6 A G 2: 160,825,673 (GRCm39) Y1144H probably damaging Het
Clca3a2 T A 3: 144,519,685 (GRCm39) I230L probably benign Het
Clec2d A T 6: 129,161,831 (GRCm39) T155S possibly damaging Het
Cpxm1 G T 2: 130,235,117 (GRCm39) F567L probably damaging Het
Cyp4f16 G T 17: 32,756,078 (GRCm39) A36S probably damaging Het
Dnah17 T C 11: 117,993,235 (GRCm39) probably benign Het
Eml5 T C 12: 98,791,676 (GRCm39) D1280G probably damaging Het
Ergic1 C A 17: 26,860,566 (GRCm39) A218D possibly damaging Het
Eva1a A G 6: 82,068,894 (GRCm39) R74G probably benign Het
Fhip1a A G 3: 85,637,628 (GRCm39) S224P probably damaging Het
Ipo13 A C 4: 117,762,100 (GRCm39) probably null Het
Itgb3 T A 11: 104,531,812 (GRCm39) probably null Het
Lrif1 T A 3: 106,641,874 (GRCm39) S63R probably damaging Het
Lrig3 A G 10: 125,832,478 (GRCm39) probably null Het
Lrp1b A T 2: 41,174,177 (GRCm39) N1547K probably benign Het
Mme A T 3: 63,287,713 (GRCm39) N738I possibly damaging Het
Morc2a A G 11: 3,633,919 (GRCm39) N677S probably benign Het
Mrpl35 A C 6: 71,794,723 (GRCm39) L82V probably benign Het
Mybpc1 A T 10: 88,391,557 (GRCm39) N313K probably damaging Het
Podn T C 4: 107,879,787 (GRCm39) D66G probably damaging Het
Ptpru A T 4: 131,548,124 (GRCm39) N52K probably damaging Het
Pyroxd1 G T 6: 142,304,808 (GRCm39) R345L probably benign Het
Qser1 A G 2: 104,619,358 (GRCm39) S485P probably damaging Het
Rbm46 A T 3: 82,771,351 (GRCm39) D421E probably benign Het
Rgs10 T C 7: 127,990,761 (GRCm39) E109G probably damaging Het
Samd8 C T 14: 21,825,388 (GRCm39) P178S probably benign Het
Scaf11 T C 15: 96,318,404 (GRCm39) K387E probably damaging Het
Sccpdh G T 1: 179,498,171 (GRCm39) V72F possibly damaging Het
Sec22a A T 16: 35,134,527 (GRCm39) V285E probably damaging Het
Slc19a3 A G 1: 83,000,664 (GRCm39) S118P probably damaging Het
Sun1 C A 5: 139,216,974 (GRCm39) R338S probably benign Het
Taf1c A G 8: 120,325,417 (GRCm39) F815S probably benign Het
Zcchc14 A T 8: 122,332,167 (GRCm39) probably benign Het
Other mutations in Fus
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02505:Fus APN 7 127,580,679 (GRCm39) missense possibly damaging 0.53
IGL02622:Fus APN 7 127,584,794 (GRCm39) missense probably damaging 0.99
IGL02951:Fus APN 7 127,581,009 (GRCm39) unclassified probably benign
IGL03029:Fus APN 7 127,584,712 (GRCm39) unclassified probably benign
R0588:Fus UTSW 7 127,584,746 (GRCm39) missense probably damaging 0.99
R0674:Fus UTSW 7 127,571,948 (GRCm39) unclassified probably benign
R0686:Fus UTSW 7 127,571,935 (GRCm39) unclassified probably benign
R0746:Fus UTSW 7 127,584,596 (GRCm39) unclassified probably benign
R1562:Fus UTSW 7 127,579,094 (GRCm39) missense probably damaging 1.00
R1733:Fus UTSW 7 127,580,717 (GRCm39) missense probably benign 0.01
R2186:Fus UTSW 7 127,584,706 (GRCm39) unclassified probably benign
R4537:Fus UTSW 7 127,575,087 (GRCm39) missense probably damaging 0.99
R4981:Fus UTSW 7 127,566,727 (GRCm39) start gained probably benign
R5206:Fus UTSW 7 127,568,969 (GRCm39) missense unknown
R5283:Fus UTSW 7 127,584,719 (GRCm39) unclassified probably benign
R5614:Fus UTSW 7 127,573,543 (GRCm39) unclassified probably benign
R6182:Fus UTSW 7 127,576,465 (GRCm39) missense probably damaging 0.97
R6239:Fus UTSW 7 127,580,606 (GRCm39) missense possibly damaging 0.91
R6939:Fus UTSW 7 127,571,741 (GRCm39) unclassified probably benign
R7130:Fus UTSW 7 127,573,585 (GRCm39) missense unknown
R7340:Fus UTSW 7 127,581,123 (GRCm39) splice site probably null
R8293:Fus UTSW 7 127,571,749 (GRCm39) missense unknown
R8440:Fus UTSW 7 127,568,998 (GRCm39) missense unknown
R9154:Fus UTSW 7 127,580,440 (GRCm39) missense unknown
X0061:Fus UTSW 7 127,584,605 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- TTGGTGTTTCAAGGACAGTAATGAG -3'
(R):5'- ACAACCATTGGTTTTGCTAGC -3'

Sequencing Primer
(F):5'- CTGGTAAGAATCCTGAGCATT -3'
(R):5'- CCTGTCTCTGCTGGGAATAAACAG -3'
Posted On 2014-10-02