Incidental Mutation 'IGL02225:Fgfr1op'
ID285322
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 #IGL02225
Quality Score
Status
Chromosome17
Chromosomal Location8165501-8196804 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 8182419 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 257 (D257E)
Ref Sequence ENSEMBL: ENSMUSP00000095030 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024636] [ENSMUST00000097419]
Predicted Effect probably damaging
Transcript: ENSMUST00000024636
AA Change: D237E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000024636
Gene: ENSMUSG00000069135
AA Change: D237E

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 probably damaging
Transcript: ENSMUST00000097419
AA Change: D257E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095030
Gene: ENSMUSG00000069135
AA Change: D257E

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 unknown
Transcript: ENSMUST00000161898
AA Change: D57E
SMART Domains Protein: ENSMUSP00000123855
Gene: ENSMUSG00000069135
AA Change: D57E

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp4 A G 7: 44,256,741 probably null Het
Adgrf4 C A 17: 42,663,378 probably null Het
Aqp9 A T 9: 71,130,547 probably benign Het
C1s1 A G 6: 124,541,334 W8R probably benign Het
Cfap43 A G 19: 47,812,177 I345T probably benign Het
Cwh43 T C 5: 73,421,567 Y306H probably damaging Het
Cyp4a32 A T 4: 115,610,503 H228L probably benign Het
Ddx24 A G 12: 103,417,371 L607P probably damaging Het
Dlg3 A G X: 100,807,188 K232R probably benign Het
Fig4 A G 10: 41,256,452 S453P probably benign Het
Frem1 A G 4: 82,940,506 L1556P probably damaging Het
Gjb2 T C 14: 57,100,188 K188E probably damaging Het
Gp1bb C A 16: 18,620,900 W148L possibly damaging Het
Grip1 C T 10: 120,049,453 T375M probably damaging Het
Hnf1b T C 11: 83,861,785 L82P probably damaging Het
Jakmip1 T C 5: 37,104,856 V333A probably damaging Het
Magi1 G T 6: 93,694,026 R1069S probably damaging Het
Myh15 A T 16: 49,091,163 E319D probably benign Het
Myl4 A G 11: 104,580,402 I42V probably benign Het
Obsl1 A T 1: 75,503,798 V394E probably damaging Het
Olfr1137 C T 2: 87,711,399 C169Y possibly damaging Het
Olfr376 T A 11: 73,375,078 F110I probably damaging Het
Olfr598 A T 7: 103,329,166 I227F probably damaging Het
Pcnt C T 10: 76,389,474 R1732K probably benign Het
Pkd1l3 T C 8: 109,638,678 Y1144H probably damaging Het
Pogz A G 3: 94,879,016 K972E probably damaging Het
Sccpdh A G 1: 179,679,699 T227A probably benign Het
Sec16b A G 1: 157,532,044 probably benign Het
Slain2 T A 5: 72,941,390 V163E probably damaging Het
Snx1 G A 9: 66,109,621 P56L probably benign Het
Snx14 G A 9: 88,413,524 T196I probably damaging Het
Sspo T C 6: 48,484,334 F3570L probably benign Het
Tbrg4 C A 11: 6,624,094 V43F probably damaging Het
Traf3ip3 A G 1: 193,195,100 I176T probably benign Het
Trbv20 T A 6: 41,188,307 probably benign Het
Ubc A T 5: 125,386,133 V710D probably benign Het
Ugt2b35 T C 5: 87,007,405 probably benign Het
Zbed5 C T 5: 129,902,133 probably null Het
Zc3hav1 T C 6: 38,340,341 Y108C probably damaging Het
Other mutations in Fgfr1op
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01963:Fgfr1op APN 17 8192277 missense probably damaging 0.97
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 On2015-04-16