Incidental Mutation 'IGL01963:Fgfr1op'
ID182464
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fgfr1op
Ensembl Gene ENSMUSG00000069135
Gene NameFgfr1 oncogene partner
Synonyms4930553O10Rik, Fop
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01963
Quality Score
Status
Chromosome17
Chromosomal Location8165501-8196804 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 8192277 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 354 (D354V)
Ref Sequence ENSEMBL: ENSMUSP00000024636 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024636] [ENSMUST00000097419]
Predicted Effect probably damaging
Transcript: ENSMUST00000024636
AA Change: D354V

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000024636
Gene: ENSMUSG00000069135
AA Change: D354V

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
LisH 70 102 1.82e0 SMART
low complexity region 169 200 N/A INTRINSIC
low complexity region 211 222 N/A INTRINSIC
low complexity region 269 282 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000097419
AA Change: D374V

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000095030
Gene: ENSMUSG00000069135
AA Change: D374V

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
LisH 70 102 1.82e0 SMART
low complexity region 178 191 N/A INTRINSIC
low complexity region 194 220 N/A INTRINSIC
low complexity region 231 242 N/A INTRINSIC
low complexity region 289 302 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161898
SMART Domains Protein: ENSMUSP00000123855
Gene: ENSMUSG00000069135

DomainStartEndE-ValueType
low complexity region 3 21 N/A INTRINSIC
low complexity region 32 43 N/A INTRINSIC
low complexity region 90 103 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a largely hydrophilic centrosomal protein that is required for anchoring microtubules to subcellular structures. A t(6;8)(q27;p11) chromosomal translocation, fusing this gene and the fibroblast growth factor receptor 1 (FGFR1) gene, has been found in cases of myeloproliferative disorder. The resulting chimeric protein contains the N-terminal leucine-rich region of this encoded protein fused to the catalytic domain of FGFR1. Alterations in this gene may also be associated with Crohn's disease, Graves' disease, and vitiligo. Alternatively spliced transcript variants that encode different proteins have been identified. [provided by RefSeq, Jul 2013]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610042L04Rik G A 14: 4,350,856 G130D probably damaging Het
Abca8b T A 11: 109,971,763 D392V probably damaging Het
Clptm1l T A 13: 73,617,569 probably benign Het
Creb3l1 G A 2: 91,993,333 T178I probably benign Het
Ctsd A G 7: 142,376,599 probably null Het
Dcstamp A T 15: 39,760,359 I401F possibly damaging Het
Dnah5 A G 15: 28,370,536 D2874G probably benign Het
Fli1 T A 9: 32,424,207 K310* probably null Het
Fndc4 C T 5: 31,295,212 probably null Het
Fuk A G 8: 110,893,402 F281S probably damaging Het
Gc G A 5: 89,422,122 probably benign Het
Krtap26-1 A G 16: 88,647,668 C22R probably damaging Het
Obscn C T 11: 59,020,541 G6422S probably benign Het
Olfr1444 T A 19: 12,862,382 F202L probably benign Het
Olfr418 T A 1: 173,270,352 M59K probably damaging Het
Olfr975 C A 9: 39,950,240 C177F probably damaging Het
Pgr C T 9: 8,922,668 P613L probably damaging Het
Pnpla8 C A 12: 44,296,033 A524E possibly damaging Het
Psma2 A T 13: 14,619,363 I105F probably damaging Het
Ptprg A G 14: 12,220,661 R458G probably damaging Het
Rbm44 A G 1: 91,163,108 I755V probably benign Het
Rev3l A G 10: 39,822,737 K1077E possibly damaging Het
Rps20 A C 4: 3,834,494 probably benign Het
Sel1l3 A C 5: 53,200,338 V104G probably damaging Het
Sirpb1c T C 3: 15,838,773 N89S probably benign Het
Slc25a16 G A 10: 62,930,441 probably null Het
Sulf1 C T 1: 12,818,507 R339C probably damaging Het
Tedc2 C T 17: 24,217,952 A270T probably benign Het
Trem3 T C 17: 48,247,852 S2P possibly damaging Het
Vps37a G T 8: 40,540,730 Q255H probably damaging Het
Zfp352 C T 4: 90,224,154 A177V possibly damaging Het
Other mutations in Fgfr1op
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02225:Fgfr1op APN 17 8182419 missense probably damaging 1.00
IGL03142:Fgfr1op APN 17 8192209 missense probably damaging 1.00
PIT4378001:Fgfr1op UTSW 17 8182273 missense probably damaging 0.98
R0101:Fgfr1op UTSW 17 8169542 missense possibly damaging 0.64
R0514:Fgfr1op UTSW 17 8191434 missense possibly damaging 0.92
R5257:Fgfr1op UTSW 17 8172943 missense probably benign 0.09
R7092:Fgfr1op UTSW 17 8172970 missense probably benign 0.01
Posted On2014-05-07