Mutagenetix > Incidental Mutation

Incidental Mutation 'R0713:Fnbp1'

63872

Institutional Source

Beutler Lab

Gene Symbol

Fnbp1

Ensembl Gene

ENSMUSG00000075415

Gene Name

formin binding protein 1

Synonyms

FBP17, 2210010H06Rik, FBP1, 1110057E06Rik

MMRRC Submission

038896-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.552) question?

Stock #

R0713 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

30916218-31032020 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30926606 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 433 (Y433H)

Ref Sequence

ENSEMBL: ENSMUSP00000109194 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073879] [ENSMUST00000075326] [ENSMUST00000100207] [ENSMUST00000100208] [ENSMUST00000113555] [ENSMUST00000113559] [ENSMUST00000113560] [ENSMUST00000113562] [ENSMUST00000113564]

AlphaFold

Q80TY0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073879
AA Change: Y433H

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000109188
Gene: ENSMUSG00000075415
AA Change: Y433H

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000075326
AA Change: Y465H

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000074796
Gene: ENSMUSG00000075415
AA Change: Y465H

Domain	Start	End	E-Value	Type
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: Y438H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000097781
Gene: ENSMUSG00000075415
AA Change: Y438H

Domain	Start	End	E-Value	Type
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: Y494H

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000097782
Gene: ENSMUSG00000075415
AA Change: Y494H

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000113555
AA Change: Y470H

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000109184
Gene: ENSMUSG00000075415
AA Change: Y470H

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000113559
AA Change: Y405H

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000109189
Gene: ENSMUSG00000075415
AA Change: Y405H

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000113560
AA Change: Y499H

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000109190
Gene: ENSMUSG00000075415
AA Change: Y499H

Domain	Start	End	E-Value	Type
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

unknown
Transcript: ENSMUST00000128500
AA Change: Y266H

SMART Domains

Protein: ENSMUSP00000115013
Gene: ENSMUSG00000075415
AA Change: Y266H

Domain	Start	End	E-Value	Type
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

unknown
Transcript: ENSMUST00000128431
AA Change: Y259H

Predicted Effect

probably benign
Transcript: ENSMUST00000113562
AA Change: Y433H

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000109192
Gene: ENSMUSG00000075415
AA Change: Y433H

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000113564
AA Change: Y433H

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109194
Gene: ENSMUSG00000075415
AA Change: Y433H

Domain	Start	End	E-Value	Type
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

noncoding transcript
Transcript: ENSMUST00000138581

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.3%

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: 6 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cd177	T	C	7: 24,443,855 (GRCm39)	I748V	probably benign	Het
Dst	C	T	1: 34,228,200 (GRCm39)	P1606L	probably damaging	Het
Psg28	A	G	7: 18,156,999 (GRCm39)	I412T	possibly damaging	Het
Ssb	A	G	2: 69,697,703 (GRCm39)	T145A	probably benign	Het
Stx18	T	A	5: 38,264,015 (GRCm39)		probably null	Het
Zfp512b	C	T	2: 181,230,093 (GRCm39)	E515K	possibly damaging	Het

Other mutations in Fnbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R0381:Fnbp1	UTSW	2	30,923,041 (GRCm39)	missense	probably benign	0.02
R0573:Fnbp1	UTSW	2	30,948,990 (GRCm39)	missense	probably damaging	1.00
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'- CGTTGGATGAATCAGAGGCCACAC -3'
(R):5'- GAAGTCGTTGTCTGTGAGCCTACC -3'

Sequencing Primer
(F):5'- ACAATAGACACTCTTGCCTTCTG -3'
(R):5'- TATAGTGCAGGGTCTGAGACATC -3'

Posted On

2013-07-30