Mutagenetix > Incidental Mutation

Incidental Mutation 'R9617:Fnbp4'

726495

Institutional Source

Beutler Lab

Gene Symbol

Fnbp4

Ensembl Gene

ENSMUSG00000008200

Gene Name

formin binding protein 4

Synonyms

FBP30

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.934) question?

Stock #

R9617 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

90575793-90611365 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90588738 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 503 (I503T)

Ref Sequence

ENSEMBL: ENSMUSP00000013759 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013759]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000013759
AA Change: I503T

PolyPhen 2 Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000013759
Gene: ENSMUSG00000008200
AA Change: I503T

Domain	Start	End	E-Value	Type
low complexity region	65	140	N/A	INTRINSIC
low complexity region	165	175	N/A	INTRINSIC
low complexity region	204	235	N/A	INTRINSIC
WW	265	298	3.58e-5	SMART
low complexity region	372	381	N/A	INTRINSIC
low complexity region	386	393	N/A	INTRINSIC
low complexity region	404	416	N/A	INTRINSIC
coiled coil region	442	478	N/A	INTRINSIC
low complexity region	515	533	N/A	INTRINSIC
WW	650	683	1.77e-9	SMART
low complexity region	757	788	N/A	INTRINSIC
low complexity region	891	909	N/A	INTRINSIC
low complexity region	955	1002	N/A	INTRINSIC
low complexity region	1018	1032	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	C	T	3: 68,777,402 (GRCm39)	P121L	probably damaging	Het
4930442H23Rik	C	T	10: 81,018,976 (GRCm39)	V16I	unknown	Het
4930444P10Rik	T	C	1: 16,139,051 (GRCm39)	M97V	probably benign	Het
Abcb1a	A	T	5: 8,797,353 (GRCm39)		probably null	Het
Abhd5	T	C	9: 122,197,035 (GRCm39)	I74T	probably benign	Het
Ankle2	T	A	5: 110,399,409 (GRCm39)	F590I	probably damaging	Het
C2cd6	T	C	1: 59,097,848 (GRCm39)	S414G	probably benign	Het
Catsperd	G	A	17: 56,968,252 (GRCm39)	D546N	probably benign	Het
Cep295nl	G	T	11: 118,224,000 (GRCm39)	H281Q	possibly damaging	Het
Cfap69	T	C	5: 5,639,164 (GRCm39)	E670G	probably damaging	Het
Cfh	A	T	1: 140,090,718 (GRCm39)	V90E	possibly damaging	Het
Cnksr3	A	C	10: 7,079,021 (GRCm39)		probably null	Het
Cntrl	T	A	2: 35,035,077 (GRCm39)	F901L	probably benign	Het
Coch	T	A	12: 51,645,034 (GRCm39)	M196K	probably damaging	Het
Crygd	T	C	1: 65,102,369 (GRCm39)	N34S	probably damaging	Het
Ctdp1	A	T	18: 80,492,962 (GRCm39)	I511N	probably benign	Het
Dhx30	C	T	9: 109,926,186 (GRCm39)	A142T	probably damaging	Het
Dlg2	T	C	7: 92,087,284 (GRCm39)		probably null	Het
Dmxl1	A	G	18: 49,998,228 (GRCm39)	D776G	probably damaging	Het
Dnm3	C	T	1: 162,149,354 (GRCm39)	G197D	probably damaging	Het
Eif4g3	A	G	4: 137,824,190 (GRCm39)	H91R	probably damaging	Het
Ephb6	A	G	6: 41,596,258 (GRCm39)	M844V	probably damaging	Het
Erc1	T	C	6: 119,773,902 (GRCm39)	E351G	probably benign	Het
Etfbkmt	G	A	6: 149,045,744 (GRCm39)	G33R	probably benign	Het
Gm6370	A	T	5: 146,429,993 (GRCm39)	Q143L	probably benign	Het
Gnas	T	C	2: 174,141,988 (GRCm39)	V719A	possibly damaging	Het
H13	C	A	2: 152,530,873 (GRCm39)	D219E	probably damaging	Het
Hhatl	G	A	9: 121,618,191 (GRCm39)	T188I	possibly damaging	Het
Ifi27l2b	C	T	12: 103,422,683 (GRCm39)	A45T	probably damaging	Het
Kbtbd8	T	C	6: 95,103,874 (GRCm39)	C585R	possibly damaging	Het
Limk2	A	G	11: 3,297,715 (GRCm39)	S473P	probably damaging	Het
Lrba	G	A	3: 86,267,169 (GRCm39)	G1620S	probably benign	Het
Lrrtm2	T	C	18: 35,346,490 (GRCm39)	T271A	probably benign	Het
Map3k4	A	G	17: 12,476,871 (GRCm39)	S759P	possibly damaging	Het
Mybphl	G	T	3: 108,282,952 (GRCm39)	V247F	possibly damaging	Het
Myh10	T	A	11: 68,682,815 (GRCm39)	V1120D	probably benign	Het
Naip1	T	C	13: 100,569,821 (GRCm39)	N271S	probably benign	Het
Napepld	C	T	5: 21,875,561 (GRCm39)	V328I	probably damaging	Het
Nucb1	A	G	7: 45,148,159 (GRCm39)	V218A	probably benign	Het
Nup107	A	T	10: 117,593,238 (GRCm39)	D813E	probably benign	Het
Or14j3	T	A	17: 37,901,053 (GRCm39)	K64*	probably null	Het
Or5g29	T	A	2: 85,421,279 (GRCm39)	Y132N	probably damaging	Het
Or6c35	A	T	10: 129,168,794 (GRCm39)	T15S	probably damaging	Het
Or8g52	A	G	9: 39,630,678 (GRCm39)	S52G	possibly damaging	Het
Pabpc2	T	C	18: 39,907,602 (GRCm39)	I289T	probably benign	Het
Parg	A	G	14: 31,960,569 (GRCm39)	I600V	probably benign	Het
Patj	T	C	4: 98,393,991 (GRCm39)	F975L	probably benign	Het
Pcdhb17	A	G	18: 37,618,218 (GRCm39)	T3A	probably benign	Het
Piezo2	T	C	18: 63,248,108 (GRCm39)	E464G	probably benign	Het
Pkd1	T	A	17: 24,800,341 (GRCm39)	V3034D	probably damaging	Het
Pld2	A	G	11: 70,447,944 (GRCm39)	E869G	probably damaging	Het
Plek	T	A	11: 16,945,311 (GRCm39)	L29F	possibly damaging	Het
Prelp	A	G	1: 133,842,416 (GRCm39)	L243P	probably damaging	Het
Rapgef5	T	A	12: 117,621,930 (GRCm39)	D231E	probably benign	Het
Riok1	A	G	13: 38,244,016 (GRCm39)	E514G	probably benign	Het
Rmdn2	T	C	17: 79,928,790 (GRCm39)	M14T	probably benign	Het
Rorb	G	A	19: 18,939,499 (GRCm39)	Q228*	probably null	Het
Scmh1	T	A	4: 120,340,827 (GRCm39)	M171K	probably damaging	Het
Scn9a	A	G	2: 66,392,809 (GRCm39)	L261P	probably damaging	Het
Senp7	A	T	16: 55,971,652 (GRCm39)	N263I	probably benign	Het
Slc11a1	G	T	1: 74,419,041 (GRCm39)	A162S	probably benign	Het
Slc6a17	A	G	3: 107,384,685 (GRCm39)	V305A	probably damaging	Het
Snph	A	T	2: 151,435,422 (GRCm39)	V502E	probably damaging	Het
Sost	G	T	11: 101,854,892 (GRCm39)	A139E	possibly damaging	Het
Srp54a	A	T	12: 55,136,061 (GRCm39)	E25D	probably benign	Het
Tmeff1	T	A	4: 48,636,940 (GRCm39)	C213S	probably damaging	Het
Tmem232	A	T	17: 65,807,180 (GRCm39)	Y4*	probably null	Het
Tmem63c	T	G	12: 87,103,361 (GRCm39)	I45S	probably benign	Het
Ttbk1	C	T	17: 46,757,998 (GRCm39)	G879S	probably damaging	Het
Ugt1a7c	A	G	1: 88,022,952 (GRCm39)	H37R	probably damaging	Het
Vmn1r236	T	C	17: 21,507,053 (GRCm39)	L57P	probably damaging	Het
Wnk2	T	A	13: 49,192,453 (GRCm39)	E675V	unknown	Het
Wnt10b	T	C	15: 98,674,609 (GRCm39)	T43A	probably damaging	Het
Wnt8a	C	A	18: 34,680,163 (GRCm39)	T176K	probably benign	Het
Zfp937	T	A	2: 150,080,452 (GRCm39)	C161S	probably damaging	Het

Other mutations in Fnbp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:Fnbp4	APN	2	90,581,966 (GRCm39)	splice site	probably benign
IGL00731:Fnbp4	APN	2	90,598,987 (GRCm39)	missense	probably benign
IGL01021:Fnbp4	APN	2	90,608,013 (GRCm39)	missense	probably benign	0.06
IGL01097:Fnbp4	APN	2	90,606,694 (GRCm39)	missense	possibly damaging	0.63
IGL02504:Fnbp4	APN	2	90,598,887 (GRCm39)	missense	probably damaging	1.00
IGL02510:Fnbp4	APN	2	90,581,819 (GRCm39)	missense	probably benign
IGL02673:Fnbp4	APN	2	90,593,816 (GRCm39)	missense	probably benign	0.01
IGL03024:Fnbp4	APN	2	90,581,523 (GRCm39)	missense	probably benign	0.11
IGL03221:Fnbp4	APN	2	90,608,062 (GRCm39)	missense	possibly damaging	0.65
R0570:Fnbp4	UTSW	2	90,583,301 (GRCm39)	missense	probably damaging	1.00
R1914:Fnbp4	UTSW	2	90,609,537 (GRCm39)	unclassified	probably benign
R1925:Fnbp4	UTSW	2	90,596,187 (GRCm39)	missense	probably damaging	1.00
R2051:Fnbp4	UTSW	2	90,587,876 (GRCm39)	missense	probably benign	0.05
R2069:Fnbp4	UTSW	2	90,588,716 (GRCm39)	missense	probably damaging	1.00
R2165:Fnbp4	UTSW	2	90,597,743 (GRCm39)	splice site	probably null
R2262:Fnbp4	UTSW	2	90,587,748 (GRCm39)	missense	probably damaging	1.00
R3836:Fnbp4	UTSW	2	90,577,129 (GRCm39)	missense	probably damaging	1.00
R4077:Fnbp4	UTSW	2	90,588,821 (GRCm39)	nonsense	probably null
R4356:Fnbp4	UTSW	2	90,588,683 (GRCm39)	missense	probably damaging	1.00
R4401:Fnbp4	UTSW	2	90,577,102 (GRCm39)	missense	possibly damaging	0.62
R4491:Fnbp4	UTSW	2	90,583,312 (GRCm39)	critical splice donor site	probably null
R4914:Fnbp4	UTSW	2	90,581,513 (GRCm39)	missense	probably benign	0.00
R4981:Fnbp4	UTSW	2	90,596,174 (GRCm39)	missense	probably damaging	1.00
R5165:Fnbp4	UTSW	2	90,608,001 (GRCm39)	missense	possibly damaging	0.65
R5272:Fnbp4	UTSW	2	90,583,459 (GRCm39)	missense	probably benign
R5683:Fnbp4	UTSW	2	90,583,206 (GRCm39)	missense	probably damaging	1.00
R5860:Fnbp4	UTSW	2	90,587,826 (GRCm39)	missense	probably benign	0.00
R5905:Fnbp4	UTSW	2	90,581,478 (GRCm39)	missense	probably benign	0.29
R5914:Fnbp4	UTSW	2	90,605,137 (GRCm39)	intron	probably benign
R6028:Fnbp4	UTSW	2	90,581,478 (GRCm39)	missense	probably benign	0.29
R6270:Fnbp4	UTSW	2	90,587,807 (GRCm39)	missense	probably damaging	1.00
R6379:Fnbp4	UTSW	2	90,581,468 (GRCm39)	missense	probably benign	0.41
R6389:Fnbp4	UTSW	2	90,575,879 (GRCm39)	missense	unknown
R6883:Fnbp4	UTSW	2	90,576,172 (GRCm39)	critical splice donor site	probably null
R6940:Fnbp4	UTSW	2	90,575,858 (GRCm39)	missense	unknown
R7242:Fnbp4	UTSW	2	90,576,140 (GRCm39)	missense	unknown
R7393:Fnbp4	UTSW	2	90,609,660 (GRCm39)	missense	probably damaging	0.99
R7454:Fnbp4	UTSW	2	90,608,159 (GRCm39)	unclassified	probably benign
R7455:Fnbp4	UTSW	2	90,608,159 (GRCm39)	unclassified	probably benign
R8051:Fnbp4	UTSW	2	90,608,083 (GRCm39)	missense	possibly damaging	0.77
R8283:Fnbp4	UTSW	2	90,577,115 (GRCm39)	missense	probably damaging	0.98
R8724:Fnbp4	UTSW	2	90,577,097 (GRCm39)	missense	probably damaging	1.00
R8845:Fnbp4	UTSW	2	90,606,368 (GRCm39)	missense	probably benign
R9103:Fnbp4	UTSW	2	90,608,187 (GRCm39)	missense	probably benign
R9140:Fnbp4	UTSW	2	90,576,077 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGCCATGGTGCTTGTTACTC -3'
(R):5'- TTTCCTGTGCTCTGAGGATAC -3'

Sequencing Primer
(F):5'- TACTCACTGCAGATGAGTGC -3'
(R):5'- ATACTCAGTGGTAATGGGGATCCC -3'

Posted On

2022-10-06