Incidental Mutation 'IGL02505:Fus'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fus
Ensembl Gene ENSMUSG00000030795
Gene Namefused in sarcoma
SynonymsD430004D17Rik, hnRNP P2, pigpen, D930039C12Rik, translocated in liposarcoma, Tls
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02505
Quality Score
Chromosomal Location127967457-127985701 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 127981507 bp
Amino Acid Change Arginine to Glutamine at position 252 (R252Q)
Ref Sequence ENSEMBL: ENSMUSP00000112721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077609] [ENSMUST00000079045] [ENSMUST00000106251] [ENSMUST00000121616]
Predicted Effect unknown
Transcript: ENSMUST00000077609
AA Change: R489Q
SMART Domains Protein: ENSMUSP00000076801
Gene: ENSMUSG00000030795
AA Change: R489Q

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: ENSMUST00000079045
SMART Domains Protein: ENSMUSP00000078054
Gene: ENSMUSG00000030795

transmembrane domain 89 111 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106251
AA Change: R490Q

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000101858
Gene: ENSMUSG00000030795
AA Change: R490Q

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 possibly damaging
Transcript: ENSMUST00000121616
AA Change: R252Q

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000112721
Gene: ENSMUSG00000030795
AA Change: R252Q

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: ENSMUST00000128851
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136289
Predicted Effect unknown
Transcript: ENSMUST00000141997
AA Change: R87Q
SMART Domains Protein: ENSMUSP00000134447
Gene: ENSMUSG00000030795
AA Change: R87Q

ZnF_RBZ 15 41 9e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154843
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155941
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172755
Predicted Effect probably benign
Transcript: ENSMUST00000174632
SMART Domains Protein: ENSMUSP00000133820
Gene: ENSMUSG00000030795

Pfam:RRM_1 6 56 6.6e-9 PFAM
ZnF_RBZ 77 103 9e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181457
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205261
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205351
Coding Region Coverage
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aagab C A 9: 63,616,814 L68M probably damaging Het
Abca13 T G 11: 9,581,498 L4575W probably damaging Het
Abcb11 A T 2: 69,245,761 V1201D probably damaging Het
Aldoa G T 7: 126,795,994 A252E probably damaging Het
Ap1b1 C T 11: 5,031,700 A536V probably benign Het
Arhgef3 A G 14: 27,394,000 H233R possibly damaging Het
Arhgef40 A T 14: 52,000,863 E1266D probably damaging Het
Atp1a4 C T 1: 172,235,075 V622M probably damaging Het
Aup1 A G 6: 83,055,277 T142A probably benign Het
Bcl6 A T 16: 23,977,569 I36N probably damaging Het
Best1 A G 19: 9,989,150 S358P probably damaging Het
Cadps T G 14: 12,449,759 Q1150P probably damaging Het
Capn5 T A 7: 98,131,196 E322D possibly damaging Het
Ccdc94 G T 17: 55,962,051 G53V probably damaging Het
Cd300ld2 A T 11: 115,013,687 M118K probably benign Het
Cdh9 T C 15: 16,855,989 L705P probably damaging Het
Cep170b T G 12: 112,743,070 N436K probably damaging Het
Chil6 T A 3: 106,405,962 I24F probably benign Het
Chmp2a T A 7: 13,033,855 K48* probably null Het
Col19a1 C T 1: 24,300,584 probably benign Het
Cops7b C A 1: 86,592,321 Q65K probably benign Het
Cyp2e1 T A 7: 140,769,156 L133H probably damaging Het
Dirc2 G T 16: 35,735,558 D177E probably benign Het
Dkc1 T C X: 75,108,733 probably benign Het
Erlec1 A G 11: 30,950,767 Y134H probably damaging Het
F8 C A X: 75,379,598 probably benign Het
Fzd3 A T 14: 65,253,106 D9E probably benign Het
Gm15821 T C 17: 34,214,285 probably benign Het
Gm5117 C A 8: 31,738,316 noncoding transcript Het
H2afy A G 13: 56,074,330 V336A probably damaging Het
H2-Q6 A G 17: 35,425,176 I45V probably benign Het
Hectd1 A G 12: 51,800,713 probably null Het
Ifi204 T C 1: 173,755,654 K333E probably benign Het
Ildr1 G A 16: 36,716,164 G185D probably damaging Het
Itgb2 G A 10: 77,547,218 D141N probably damaging Het
Kdm1b G T 13: 47,060,855 D226Y probably damaging Het
Krt77 A G 15: 101,860,946 L460P probably damaging Het
Lamp3 A G 16: 19,655,457 I389T possibly damaging Het
Mars C A 10: 127,304,244 E414* probably null Het
Mpg T C 11: 32,230,042 V190A probably damaging Het
Myh15 A G 16: 49,117,263 I742M possibly damaging Het
Nell2 A T 15: 95,296,263 probably benign Het
Nmur1 T C 1: 86,386,335 D370G probably benign Het
Npsr1 A G 9: 24,098,282 E28G probably benign Het
Olfr569 T C 7: 102,887,607 E182G probably damaging Het
Olfr679 A T 7: 105,086,333 I206L probably benign Het
Olfr8 G T 10: 78,955,933 V243F probably benign Het
Olfr876 G A 9: 37,804,331 C140Y probably benign Het
Pdzrn3 T C 6: 101,151,938 N589S possibly damaging Het
Pkd1l3 T C 8: 109,633,216 L901P probably damaging Het
Plekhg1 G T 10: 3,957,139 K685N probably damaging Het
Prim1 T A 10: 128,029,783 *419R probably null Het
Ptk2b G T 14: 66,154,243 N905K probably damaging Het
Rbm34 T C 8: 126,949,321 I395V probably benign Het
Rfx1 A G 8: 84,095,809 E912G possibly damaging Het
Rngtt T C 4: 33,337,936 V253A possibly damaging Het
Slc2a9 A G 5: 38,436,659 Y169H possibly damaging Het
Susd4 C A 1: 182,892,080 T420K probably benign Het
Tdrd3 G A 14: 87,511,682 G676D probably damaging Het
Tec T C 5: 72,789,244 K47E probably damaging Het
Tenm2 C A 11: 36,051,916 G1308* probably null Het
Tmprss15 A T 16: 78,987,741 D675E probably benign Het
Vmn1r84 A G 7: 12,362,419 C104R probably damaging Het
Vmn2r49 T A 7: 9,976,451 M785L probably benign Het
Vmn2r85 G T 10: 130,425,580 T296K probably damaging Het
Wdr3 C T 3: 100,151,974 S343N probably benign Het
Zfp143 A T 7: 110,091,786 M515L possibly damaging Het
Zfp735 A G 11: 73,689,800 I42V probably benign Het
Zswim5 A T 4: 116,962,552 M385L probably benign Het
Other mutations in Fus
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02622:Fus APN 7 127985622 missense probably damaging 0.99
IGL02951:Fus APN 7 127981837 unclassified probably benign
IGL03029:Fus APN 7 127985540 unclassified probably benign
R0588:Fus UTSW 7 127985574 missense probably damaging 0.99
R0674:Fus UTSW 7 127972776 unclassified probably benign
R0686:Fus UTSW 7 127972763 unclassified probably benign
R0746:Fus UTSW 7 127985424 unclassified probably benign
R1562:Fus UTSW 7 127979922 missense probably damaging 1.00
R1733:Fus UTSW 7 127981545 missense probably benign 0.01
R2186:Fus UTSW 7 127985534 unclassified probably benign
R2200:Fus UTSW 7 127977228 missense probably damaging 0.99
R4537:Fus UTSW 7 127975915 missense probably damaging 0.99
R4981:Fus UTSW 7 127967555 start gained probably benign
R5206:Fus UTSW 7 127969797 missense unknown
R5283:Fus UTSW 7 127985547 unclassified probably benign
R5614:Fus UTSW 7 127974371 unclassified probably benign
R6182:Fus UTSW 7 127977293 missense probably damaging 0.97
R6239:Fus UTSW 7 127981434 missense possibly damaging 0.91
R6939:Fus UTSW 7 127972569 unclassified probably benign
R7130:Fus UTSW 7 127974413 missense unknown
R7340:Fus UTSW 7 127981951 utr 3 prime probably null
X0061:Fus UTSW 7 127985433 unclassified probably benign
Posted On2015-04-16