Mutagenetix > Incidental Mutation

Incidental Mutation 'R4716:Fnbp1'

354007

Institutional Source

Beutler Lab

Gene Symbol

Fnbp1

Ensembl Gene

ENSMUSG00000075415

Gene Name

formin binding protein 1

Synonyms

FBP17, 2210010H06Rik, FBP1, 1110057E06Rik

MMRRC Submission

041983-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.557) question?

Stock #

R4716 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30916218-31032020 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30945532 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 154 (T154A)

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 benign
Transcript: ENSMUST00000073879
AA Change: T233A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000109188
Gene: ENSMUSG00000075415
AA Change: T233A

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 benign
Transcript: ENSMUST00000075326
AA Change: T233A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000074796
Gene: ENSMUSG00000075415
AA Change: T233A

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: T233A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000097781
Gene: ENSMUSG00000075415
AA Change: T233A

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: T233A

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

SMART Domains

Protein: ENSMUSP00000097782
Gene: ENSMUSG00000075415
AA Change: T233A

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

probably benign
Transcript: ENSMUST00000113552
AA Change: T233A

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

SMART Domains

Protein: ENSMUSP00000109181
Gene: ENSMUSG00000075415
AA Change: T233A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000113555
AA Change: T233A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000109184
Gene: ENSMUSG00000075415
AA Change: T233A

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 benign
Transcript: ENSMUST00000113559
AA Change: T154A

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000109189
Gene: ENSMUSG00000075415
AA Change: T154A

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

probably benign
Transcript: ENSMUST00000113560
AA Change: T233A

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

SMART Domains

Protein: ENSMUSP00000109190
Gene: ENSMUSG00000075415
AA Change: T233A

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

probably benign
Transcript: ENSMUST00000113562
AA Change: T233A

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

SMART Domains

Protein: ENSMUSP00000109192
Gene: ENSMUSG00000075415
AA Change: T233A

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 benign
Transcript: ENSMUST00000113564
AA Change: T233A

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

SMART Domains

Protein: ENSMUSP00000109194
Gene: ENSMUSG00000075415
AA Change: T233A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000149196

SMART Domains

Protein: ENSMUSP00000121282
Gene: ENSMUSG00000075415

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

Predicted Effect

probably benign
Transcript: ENSMUST00000128431

Predicted Effect

probably benign
Transcript: ENSMUST00000136181

SMART Domains

Protein: ENSMUSP00000120580
Gene: ENSMUSG00000075415

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

probably benign
Transcript: ENSMUST00000128500

SMART Domains

Protein: ENSMUSP00000115013
Gene: ENSMUSG00000075415

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	C	T	16: 56,471,088 (GRCm39)	R578*	probably null	Het
Adam8	T	A	7: 139,563,851 (GRCm39)	D717V	probably benign	Het
Aknad1	T	C	3: 108,682,417 (GRCm39)		probably null	Het
Alk	A	T	17: 72,512,937 (GRCm39)	W341R	probably damaging	Het
Ankdd1b	G	A	13: 96,591,091 (GRCm39)	Q101*	probably null	Het
Anpep	A	C	7: 79,476,380 (GRCm39)	S829A	probably benign	Het
Armh3	A	G	19: 45,948,781 (GRCm39)	S233P	probably damaging	Het
Ate1	A	T	7: 130,115,511 (GRCm39)	C72S	probably damaging	Het
Atp6v0a4	G	A	6: 38,037,999 (GRCm39)	L533F	probably damaging	Het
Bach1	T	C	16: 87,512,267 (GRCm39)		probably benign	Het
Baz2b	T	C	2: 59,799,599 (GRCm39)	D240G	probably benign	Het
Cdc14b	C	T	13: 64,357,014 (GRCm39)	S21N	probably damaging	Het
Cdh3	A	G	8: 107,270,520 (GRCm39)	I466V	probably benign	Het
Cog1	A	G	11: 113,547,923 (GRCm39)	E137G	probably damaging	Het
Col4a2	A	G	8: 11,452,224 (GRCm39)	D180G	probably damaging	Het
Cyp2c40	A	T	19: 39,791,105 (GRCm39)		probably null	Het
Dclk2	C	T	3: 86,827,188 (GRCm39)	R97H	probably damaging	Het
Ddx52	T	C	11: 83,846,031 (GRCm39)		probably null	Het
Dhx58	C	T	11: 100,587,797 (GRCm39)		probably null	Het
Dmp1	T	A	5: 104,360,427 (GRCm39)	S368T	probably damaging	Het
Dnah17	C	A	11: 117,964,474 (GRCm39)	V2435L	probably benign	Het
Dnajc7	A	G	11: 100,510,402 (GRCm39)	V10A	probably benign	Het
Dscam	G	T	16: 96,420,771 (GRCm39)	T1705K	possibly damaging	Het
Dscaml1	G	A	9: 45,361,890 (GRCm39)	V217M	probably damaging	Het
Dync2h1	A	G	9: 7,142,648 (GRCm39)		probably null	Het
F5	A	G	1: 164,021,488 (GRCm39)	D1321G	probably damaging	Het
Fam174a	C	T	1: 95,241,770 (GRCm39)	P77S	probably benign	Het
Fars2	G	A	13: 36,389,051 (GRCm39)	R180H	probably damaging	Het
Fsip2	T	A	2: 82,805,203 (GRCm39)	N507K	probably damaging	Het
Glg1	G	T	8: 111,887,407 (GRCm39)	Y449*	probably null	Het
Gm15130	A	T	2: 110,964,560 (GRCm39)	Y187*	probably null	Het
Gm973	A	T	1: 59,591,713 (GRCm39)	K366*	probably null	Het
H2bc11	T	A	13: 22,227,533 (GRCm39)	V45E	possibly damaging	Het
Hao1	A	G	2: 134,347,540 (GRCm39)	I255T	probably damaging	Het
Herc6	T	A	6: 57,575,423 (GRCm39)	V148E	probably damaging	Het
Insm2	T	A	12: 55,647,677 (GRCm39)	C474S	possibly damaging	Het
Itch	T	C	2: 155,052,502 (GRCm39)		probably null	Het
Itga2	A	G	13: 114,993,909 (GRCm39)	V748A	probably damaging	Het
Itga9	T	A	9: 118,510,826 (GRCm39)	S452T	probably damaging	Het
Kdm4b	C	A	17: 56,693,178 (GRCm39)	D338E	probably benign	Het
Krt40	G	A	11: 99,431,045 (GRCm39)	R155C	probably damaging	Het
Krtap16-1	A	G	11: 99,876,000 (GRCm39)	V468A	probably damaging	Het
Lactb2	G	A	1: 13,708,619 (GRCm39)	P143L	probably damaging	Het
Lrba	C	A	3: 86,550,021 (GRCm39)	T2330K	probably damaging	Het
Lrp2bp	A	T	8: 46,466,208 (GRCm39)	I106F	probably benign	Het
Luzp2	A	G	7: 54,485,710 (GRCm39)	K2E	probably damaging	Het
Lypd6	T	C	2: 50,078,855 (GRCm39)		probably null	Het
Maml1	A	T	11: 50,148,694 (GRCm39)	D1015E	probably benign	Het
Mdfi	T	G	17: 48,131,906 (GRCm39)	D106A	possibly damaging	Het
Olfm3	T	C	3: 114,874,755 (GRCm39)	M17T	probably benign	Het
Or2n1d	A	C	17: 38,646,731 (GRCm39)	I228L	possibly damaging	Het
Or2o1	A	G	11: 49,051,717 (GRCm39)	Y292C	probably damaging	Het
Or8c16	T	A	9: 38,130,714 (GRCm39)	N198K	probably damaging	Het
Or8g30	A	G	9: 39,230,725 (GRCm39)	F62L	probably benign	Het
Otud7b	T	G	3: 96,058,227 (GRCm39)	L261V	probably damaging	Het
P2ry1	A	G	3: 60,910,893 (GRCm39)	N11D	probably damaging	Het
Pate2	T	C	9: 35,596,978 (GRCm39)		probably benign	Het
Pcdhb16	A	T	18: 37,612,458 (GRCm39)	T473S	probably benign	Het
Per1	A	G	11: 68,992,057 (GRCm39)	E137G	probably damaging	Het
Phf11d	T	C	14: 59,590,791 (GRCm39)	T189A	probably benign	Het
Pik3r5	C	A	11: 68,386,030 (GRCm39)	S738R	possibly damaging	Het
Pikfyve	A	G	1: 65,285,635 (GRCm39)	Y913C	possibly damaging	Het
Pkd1	T	G	17: 24,795,107 (GRCm39)	S2265A	probably damaging	Het
Pkhd1l1	C	A	15: 44,419,428 (GRCm39)	N2964K	probably damaging	Het
Plch1	T	G	3: 63,688,967 (GRCm39)	D79A	probably damaging	Het
Pnliprp1	A	C	19: 58,728,901 (GRCm39)	T363P	possibly damaging	Het
Ppp1r10	T	A	17: 36,240,352 (GRCm39)	D547E	probably benign	Het
Prkdc	T	A	16: 15,628,701 (GRCm39)	I3482K	probably benign	Het
Ptpn4	A	G	1: 119,649,598 (GRCm39)	Y333H	probably damaging	Het
Ptpru	T	A	4: 131,548,279 (GRCm39)	M73L	probably benign	Het
Rrp12	A	G	19: 41,865,867 (GRCm39)	Y698H	probably damaging	Het
Scaf8	T	C	17: 3,227,398 (GRCm39)	F338L	unknown	Het
Slc17a1	G	T	13: 24,064,576 (GRCm39)	V347L	probably benign	Het
Slc1a2	T	A	2: 102,578,883 (GRCm39)	V263E	probably damaging	Het
Slc29a4	T	C	5: 142,704,327 (GRCm39)	V327A	probably benign	Het
Slc6a3	A	C	13: 73,705,195 (GRCm39)	I229L	probably benign	Het
Sos2	T	C	12: 69,654,145 (GRCm39)	I703V	probably benign	Het
Srpk1	T	C	17: 28,840,982 (GRCm39)	T15A	probably benign	Het
St6gal2	A	T	17: 55,817,367 (GRCm39)	Q510L	probably benign	Het
Stk24	T	C	14: 121,532,130 (GRCm39)	D289G	possibly damaging	Het
Taf2	T	G	15: 54,929,364 (GRCm39)	K64T	probably benign	Het
Tbx3	A	G	5: 119,813,735 (GRCm39)	E257G	possibly damaging	Het
Tmem102	A	T	11: 69,695,022 (GRCm39)	F317I	probably damaging	Het
Trav10	A	G	14: 53,743,497 (GRCm39)	S33G	possibly damaging	Het
Ttn	T	A	2: 76,745,408 (GRCm39)	I5214F	probably damaging	Het
Ube2f	T	A	1: 91,182,002 (GRCm39)	L2Q	probably damaging	Het
Ube4b	A	G	4: 149,429,069 (GRCm39)	F857L	probably damaging	Het
Vmn2r18	T	A	5: 151,485,602 (GRCm39)	I631F	possibly damaging	Het
Zfp280d	T	A	9: 72,219,947 (GRCm39)	S241T	possibly damaging	Het
Zfp638	T	A	6: 83,956,544 (GRCm39)	L1717*	probably null	Het
Zfp719	A	G	7: 43,240,535 (GRCm39)	N708D	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
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
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'- CCCTGAAGGCTTCAAGAAAGGG -3'
(R):5'- GCACAGCAGGCTGATCTATG -3'

Sequencing Primer
(F):5'- GGCTTCAAGAAAGGGCTTTC -3'
(R):5'- CAGGCTGATCTATGACCGTACAG -3'

Posted On

2015-10-21