Mutagenetix > Incidental Mutation

Incidental Mutation 'R6436:Fnbp1'

518767

Institutional Source

Beutler Lab

Gene Symbol

Fnbp1

Ensembl Gene

ENSMUSG00000075415

Gene Name

formin binding protein 1

Synonyms

FBP17, 2210010H06Rik, FBP1, 1110057E06Rik

MMRRC Submission

044574-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.557) question?

Stock #

R6436 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30916218-31032020 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30986139 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 3 (D3G)

Ref Sequence

ENSEMBL: ENSMUSP00000109189 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073879] [ENSMUST00000075326] [ENSMUST00000100207] [ENSMUST00000100208] [ENSMUST00000113552] [ENSMUST00000113555] [ENSMUST00000113559] [ENSMUST00000113560] [ENSMUST00000113562] [ENSMUST00000113564] [ENSMUST00000149196] [ENSMUST00000136181]

AlphaFold

Q80TY0

Predicted Effect

probably damaging
Transcript: ENSMUST00000073879
AA Change: D82G

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000109188
Gene: ENSMUSG00000075415
AA Change: D82G

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: ENSMUST00000075326
AA Change: D82G

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000074796
Gene: ENSMUSG00000075415
AA Change: D82G

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 damaging
Transcript: ENSMUST00000100207
AA Change: D82G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097781
Gene: ENSMUSG00000075415
AA Change: D82G

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 damaging
Transcript: ENSMUST00000100208
AA Change: D82G

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000097782
Gene: ENSMUSG00000075415
AA Change: D82G

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: ENSMUST00000113552
AA Change: D82G

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000109181
Gene: ENSMUSG00000075415
AA Change: D82G

Domain	Start	End	E-Value	Type
FCH	1	94	4.11e-21	SMART
low complexity region	172	181	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113555
AA Change: D82G

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000109184
Gene: ENSMUSG00000075415
AA Change: D82G

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

probably damaging
Transcript: ENSMUST00000113559
AA Change: D3G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109189
Gene: ENSMUSG00000075415
AA Change: D3G

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: D82G

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000109190
Gene: ENSMUSG00000075415
AA Change: D82G

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

possibly damaging
Transcript: ENSMUST00000113562
AA Change: D82G

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000109192
Gene: ENSMUSG00000075415
AA Change: D82G

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: ENSMUST00000113564
AA Change: D82G

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000109194
Gene: ENSMUSG00000075415
AA Change: D82G

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

probably damaging
Transcript: ENSMUST00000149196
AA Change: D95G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000121282
Gene: ENSMUSG00000075415
AA Change: D95G

Domain	Start	End	E-Value	Type
FCH	14	107	8.88e-17	SMART
low complexity region	185	194	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000128500
AA Change: D72G

SMART Domains

Protein: ENSMUSP00000115013
Gene: ENSMUSG00000075415
AA Change: D72G

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

probably damaging
Transcript: ENSMUST00000136181
AA Change: D82G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000120580
Gene: ENSMUSG00000075415
AA Change: D82G

Domain	Start	End	E-Value	Type
FCH	1	94	4.11e-21	SMART
low complexity region	116	125	N/A	INTRINSIC
PDB:2EFL\|A	126	160	1e-13	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138581

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136085

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 98.1%
20x: 93.5%

Validation Efficiency

100% (33/33)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arc	C	A	15: 74,544,098 (GRCm39)	V42L	possibly damaging	Het
Clip1	C	T	5: 123,779,848 (GRCm39)	E433K	probably damaging	Het
Cmya5	T	C	13: 93,225,723 (GRCm39)	T3122A	probably damaging	Het
Ctf2	G	T	7: 127,318,603 (GRCm39)	A92E	probably damaging	Het
Ctsw	G	T	19: 5,516,322 (GRCm39)	R184S	possibly damaging	Het
D130043K22Rik	A	G	13: 25,061,918 (GRCm39)	E629G	probably damaging	Het
Dmbt1	T	C	7: 130,718,370 (GRCm39)	V1523A	probably benign	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Fanci	T	C	7: 79,090,446 (GRCm39)	I982T	probably benign	Het
Gm10770	G	A	2: 150,020,830 (GRCm39)	T229I	probably benign	Het
Gm35315	G	A	5: 110,226,578 (GRCm39)	T287I	probably benign	Het
Itgb3	T	A	11: 104,524,318 (GRCm39)	D151E	probably damaging	Het
Lcn8	A	T	2: 25,544,990 (GRCm39)		probably null	Het
Ninl	A	G	2: 150,808,098 (GRCm39)	L310P	probably damaging	Het
Nop2	A	G	6: 125,114,274 (GRCm39)	D215G	probably benign	Het
Or4d10c	T	C	19: 12,065,299 (GRCm39)	T286A	probably benign	Het
Or6c3	A	G	10: 129,308,773 (GRCm39)	T71A	probably damaging	Het
Parg	T	C	14: 31,993,634 (GRCm39)	W289R	probably damaging	Het
Pdcd4	A	G	19: 53,915,362 (GRCm39)		probably null	Het
Plk2	G	T	13: 110,532,570 (GRCm39)	E95*	probably null	Het
Pold1	G	A	7: 44,188,202 (GRCm39)	R559C	probably damaging	Het
Ptprc	T	C	1: 138,011,377 (GRCm39)	D560G	possibly damaging	Het
Rasal3	T	C	17: 32,616,478 (GRCm39)	Y290C	probably damaging	Het
Rcsd1	T	A	1: 165,485,184 (GRCm39)	S90C	probably damaging	Het
Rttn	T	C	18: 89,128,853 (GRCm39)	L1935P	probably damaging	Het
Smc1b	C	T	15: 84,976,232 (GRCm39)	R825Q	probably benign	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Homo
Tmc3	T	C	7: 83,247,695 (GRCm39)	Y230H	probably damaging	Het
Tnfrsf25	A	T	4: 152,204,084 (GRCm39)		probably null	Het
Ubl7	T	C	9: 57,827,793 (GRCm39)	L160P	probably damaging	Het
Vmn2r106	C	T	17: 20,488,725 (GRCm39)	C558Y	probably damaging	Het
Zfp646	T	A	7: 127,479,113 (GRCm39)	V430E	probably benign	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
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
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'- CCGCCTGGATCTAATTTTGTTTG -3'
(R):5'- TTGTGTAATGAACCGGCAAGAT -3'

Sequencing Primer
(F):5'- TCACTATGCAGCCTTGAAGG -3'
(R):5'- TGTAATGAACCGGCAAGATCCTCTG -3'

Posted On

2018-05-24