Incidental Mutation 'R0381:Fnbp1'
ID 30960
Institutional Source Beutler Lab
Gene Symbol Fnbp1
Ensembl Gene ENSMUSG00000075415
Gene Name formin binding protein 1
Synonyms FBP17, 2210010H06Rik, FBP1, 1110057E06Rik
MMRRC Submission 038587-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.557) question?
Stock # R0381 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 30916218-31032020 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 30923041 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 549 (G549D)
Ref Sequence ENSEMBL: ENSMUSP00000109188 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073879] [ENSMUST00000075326] [ENSMUST00000100207] [ENSMUST00000100208] [ENSMUST00000113555] [ENSMUST00000113559] [ENSMUST00000113560] [ENSMUST00000113562] [ENSMUST00000113564]
AlphaFold Q80TY0
Predicted Effect probably benign
Transcript: ENSMUST00000073879
AA Change: G549D

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000109188
Gene: ENSMUSG00000075415
AA Change: G549D

DomainStartEndE-ValueType
FCH 1 94 4.11e-21 SMART
low complexity region 172 181 N/A INTRINSIC
PDB:2KE4|A 333 419 1e-26 PDB
low complexity region 471 480 N/A INTRINSIC
SH3 486 543 3.2e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000075326
AA Change: G581D

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000074796
Gene: ENSMUSG00000075415
AA Change: G581D

DomainStartEndE-ValueType
FCH 1 94 4.11e-21 SMART
low complexity region 172 181 N/A INTRINSIC
PDB:2KE4|A 360 451 1e-26 PDB
low complexity region 503 512 N/A INTRINSIC
SH3 518 575 3.2e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000100207
AA Change: G554D

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000097781
Gene: ENSMUSG00000075415
AA Change: G554D

DomainStartEndE-ValueType
FCH 1 94 4.11e-21 SMART
low complexity region 172 181 N/A INTRINSIC
PDB:2KE4|A 338 424 1e-26 PDB
low complexity region 476 485 N/A INTRINSIC
SH3 491 548 3.2e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000100208
AA Change: G610D

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000097782
Gene: ENSMUSG00000075415
AA Change: G610D

DomainStartEndE-ValueType
FCH 1 94 4.11e-21 SMART
low complexity region 172 181 N/A INTRINSIC
low complexity region 339 351 N/A INTRINSIC
PDB:2KE4|A 394 480 2e-26 PDB
low complexity region 532 541 N/A INTRINSIC
SH3 547 604 3.2e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113555
AA Change: G586D

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000109184
Gene: ENSMUSG00000075415
AA Change: G586D

DomainStartEndE-ValueType
FCH 1 94 4.11e-21 SMART
low complexity region 172 181 N/A INTRINSIC
PDB:2KE4|A 370 456 1e-26 PDB
low complexity region 508 517 N/A INTRINSIC
SH3 523 580 3.2e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113559
SMART Domains Protein: ENSMUSP00000109189
Gene: ENSMUSG00000075415

DomainStartEndE-ValueType
PDB:2EFL|A 1 221 1e-144 PDB
low complexity region 250 262 N/A INTRINSIC
PDB:2KE4|A 300 391 1e-26 PDB
low complexity region 443 452 N/A INTRINSIC
SH3 458 515 3.2e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113560
SMART Domains Protein: ENSMUSP00000109190
Gene: ENSMUSG00000075415

DomainStartEndE-ValueType
FCH 1 94 4.11e-21 SMART
low complexity region 172 181 N/A INTRINSIC
low complexity region 339 351 N/A INTRINSIC
PDB:2KE4|A 399 485 2e-26 PDB
low complexity region 537 546 N/A INTRINSIC
SH3 552 609 3.2e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113562
SMART Domains Protein: ENSMUSP00000109192
Gene: ENSMUSG00000075415

DomainStartEndE-ValueType
FCH 1 94 4.11e-21 SMART
low complexity region 172 181 N/A INTRINSIC
PDB:2KE4|A 333 419 1e-26 PDB
low complexity region 471 480 N/A INTRINSIC
SH3 486 543 3.2e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113564
SMART Domains Protein: ENSMUSP00000109194
Gene: ENSMUSG00000075415

DomainStartEndE-ValueType
FCH 1 94 4.11e-21 SMART
low complexity region 172 181 N/A INTRINSIC
PDB:2KE4|A 333 419 1e-26 PDB
low complexity region 472 481 N/A INTRINSIC
SH3 487 544 3.2e-15 SMART
Predicted Effect unknown
Transcript: ENSMUST00000128500
AA Change: G382D
SMART Domains Protein: ENSMUSP00000115013
Gene: ENSMUSG00000075415
AA Change: G382D

DomainStartEndE-ValueType
Pfam:FCH 1 80 7.7e-20 PFAM
PDB:2KE4|A 167 253 2e-27 PDB
low complexity region 305 314 N/A INTRINSIC
SH3 320 377 3.2e-15 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138581
Predicted Effect probably benign
Transcript: ENSMUST00000128431
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the formin-binding-protein family. The protein contains an N-terminal Fer/Cdc42-interacting protein 4 (CIP4) homology (FCH) domain followed by a coiled-coil domain, a proline-rich motif, a second coiled-coil domain, a Rho family protein-binding domain (RBD), and a C-terminal SH3 domain. This protein binds sorting nexin 2 (SNX2), tankyrase (TNKS), and dynamin; an interaction between this protein and formin has not been demonstrated yet in human. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 A G 7: 45,757,858 (GRCm39) V1297A possibly damaging Het
Agbl2 C T 2: 90,614,442 (GRCm39) H25Y probably damaging Het
Akap11 A T 14: 78,750,990 (GRCm39) W466R probably benign Het
Ccdc66 T A 14: 27,213,890 (GRCm39) Q471L probably damaging Het
Dennd1c G A 17: 57,380,822 (GRCm39) A210V probably damaging Het
F13b A G 1: 139,438,597 (GRCm39) K334E probably damaging Het
Fam186a A C 15: 99,840,055 (GRCm39) I2063R probably damaging Het
Fcrl5 T C 3: 87,353,767 (GRCm39) Y371H probably damaging Het
Fndc3a A G 14: 72,794,067 (GRCm39) Y869H probably benign Het
Gm7592 A G 1: 85,454,437 (GRCm39) noncoding transcript Het
Gucy2d C A 7: 98,108,209 (GRCm39) probably null Het
Hmcn1 C T 1: 150,479,562 (GRCm39) C4634Y probably damaging Het
Kctd5 A G 17: 24,278,194 (GRCm39) probably null Het
Kics2 T C 10: 121,581,280 (GRCm39) Y94H probably damaging Het
Mettl24 C A 10: 40,622,386 (GRCm39) H203N probably damaging Het
Mitf A G 6: 97,970,104 (GRCm39) E17G probably damaging Het
Mmut T A 17: 41,248,149 (GRCm39) W59R probably benign Het
Mrc1 G A 2: 14,312,720 (GRCm39) D881N probably benign Het
Mrm1 T C 11: 84,709,509 (GRCm39) T183A possibly damaging Het
Mylk G A 16: 34,605,344 (GRCm39) probably null Het
Nab2 G A 10: 127,500,936 (GRCm39) A19V probably damaging Het
Ntsr2 T A 12: 16,709,719 (GRCm39) Y333* probably null Het
Sephs1 A G 2: 4,904,371 (GRCm39) T250A probably benign Het
Sypl2 T C 3: 108,133,473 (GRCm39) E32G possibly damaging Het
Tasp1 T C 2: 139,793,403 (GRCm39) K258E probably damaging Het
Tcam1 G A 11: 106,174,904 (GRCm39) E120K probably benign Het
Tenm4 G T 7: 96,555,088 (GRCm39) V2561F probably damaging Het
Tmc1 T C 19: 20,776,409 (GRCm39) Y650C probably damaging Het
Trim34b T C 7: 103,979,062 (GRCm39) L103P probably damaging Het
Usp47 T C 7: 111,662,600 (GRCm39) probably null Het
Vmn1r201 T A 13: 22,659,193 (GRCm39) W136R probably damaging Het
Vmn2r104 A T 17: 20,268,264 (GRCm39) Y68* probably null Het
Wscd2 T A 5: 113,689,192 (GRCm39) L66Q probably damaging Het
Other mutations in Fnbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01061:Fnbp1 APN 2 30,973,054 (GRCm39) missense probably damaging 1.00
IGL01640:Fnbp1 APN 2 30,995,303 (GRCm39) missense probably damaging 1.00
R0573:Fnbp1 UTSW 2 30,948,990 (GRCm39) missense probably damaging 1.00
R0713:Fnbp1 UTSW 2 30,926,606 (GRCm39) missense probably damaging 0.97
R1120:Fnbp1 UTSW 2 30,926,606 (GRCm39) missense probably damaging 0.97
R1364:Fnbp1 UTSW 2 30,949,043 (GRCm39) splice site probably benign
R1974:Fnbp1 UTSW 2 30,943,059 (GRCm39) missense probably null 0.94
R3800:Fnbp1 UTSW 2 30,923,143 (GRCm39) missense probably damaging 1.00
R4176:Fnbp1 UTSW 2 30,926,131 (GRCm39) splice site probably null
R4293:Fnbp1 UTSW 2 30,995,362 (GRCm39) missense probably damaging 1.00
R4478:Fnbp1 UTSW 2 30,995,266 (GRCm39) missense probably damaging 1.00
R4602:Fnbp1 UTSW 2 30,926,552 (GRCm39) critical splice donor site probably null
R4716:Fnbp1 UTSW 2 30,945,532 (GRCm39) missense probably benign 0.03
R5909:Fnbp1 UTSW 2 30,938,211 (GRCm39) splice site probably null
R6436:Fnbp1 UTSW 2 30,986,139 (GRCm39) missense probably damaging 1.00
R7075:Fnbp1 UTSW 2 30,948,926 (GRCm39) missense probably benign
R7747:Fnbp1 UTSW 2 30,926,159 (GRCm39) missense probably damaging 0.99
R8069:Fnbp1 UTSW 2 30,926,606 (GRCm39) missense probably damaging 0.97
R8870:Fnbp1 UTSW 2 30,938,222 (GRCm39) missense
R8945:Fnbp1 UTSW 2 30,995,346 (GRCm39) missense probably damaging 1.00
R9032:Fnbp1 UTSW 2 30,973,017 (GRCm39) missense probably damaging 1.00
R9484:Fnbp1 UTSW 2 30,973,038 (GRCm39) missense probably benign 0.00
R9662:Fnbp1 UTSW 2 30,986,042 (GRCm39) missense probably damaging 0.97
Z1177:Fnbp1 UTSW 2 30,973,071 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- AACGTCAGGTTACTCAGTGTGGGC -3'
(R):5'- AGAACGAAGGCACCATTTCCGTAG -3'

Sequencing Primer
(F):5'- taggcacgagccaccac -3'
(R):5'- CACCATTTCCGTAGTTGAAGG -3'
Posted On 2013-04-24