Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02510:Fnbp4'

296496

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fnbp4

Ensembl Gene

ENSMUSG00000008200

Gene Name

formin binding protein 4

Synonyms

FBP30

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.881) question?

Stock #

IGL02510

Quality Score

Status

Chromosome

Chromosomal Location

90745370-90781021 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90751475 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 215 (V215A)

Ref Sequence

ENSEMBL: ENSMUSP00000013759 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000013759
AA Change: V215A

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

SMART Domains

Protein: ENSMUSP00000013759
Gene: ENSMUSG00000008200
AA Change: V215A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000117928

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123314

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126829

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts4	G	A	1: 171,251,390	S193N	probably benign	Het
Arrdc1	C	A	2: 24,935,100	V16F	probably damaging	Het
Bsx	A	T	9: 40,874,221	Q15L	possibly damaging	Het
Casp8ap2	A	G	4: 32,639,704	T253A	probably benign	Het
Cdkl3	T	C	11: 52,011,270	L102P	probably damaging	Het
Cgnl1	G	T	9: 71,725,357	N237K	probably benign	Het
Cldn14	T	A	16: 93,919,956	M1L	probably damaging	Het
Col1a2	C	T	6: 4,516,398	R171C	unknown	Het
Col7a1	C	A	9: 108,973,231		probably benign	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Dhrs2	G	A	14: 55,236,075	V64M	probably damaging	Het
Disp3	G	A	4: 148,252,701	H886Y	probably benign	Het
Dst	G	A	1: 34,229,251		probably null	Het
Fzd9	A	G	5: 135,249,615	L472P	probably damaging	Het
Gm5096	A	G	18: 87,757,529	Q392R	probably benign	Het
Hpd	C	T	5: 123,181,910	R15Q	possibly damaging	Het
Htra2	A	G	6: 83,051,611	V412A	probably damaging	Het
Ift80	A	G	3: 68,898,543	F722S	probably benign	Het
Kcnq2	T	C	2: 181,081,361	T741A	probably benign	Het
Kl	A	C	5: 150,989,001	E738D	probably damaging	Het
Klra4	T	A	6: 130,059,543	I178L	probably damaging	Het
Klra9	T	C	6: 130,191,222	E27G	probably benign	Het
Kntc1	T	C	5: 123,819,062	Y2145H	probably benign	Het
Mbd5	T	A	2: 49,257,029	M417K	probably benign	Het
Med31	C	T	11: 72,212,056	M75I	probably benign	Het
Mpeg1	A	T	19: 12,461,424	D82V	probably damaging	Het
Msto1	A	G	3: 88,910,345	Y439H	probably damaging	Het
Olfr23	G	A	11: 73,941,005	G253E	probably damaging	Het
Olfr332	T	C	11: 58,490,539	Y72C	probably damaging	Het
Olfr344	T	C	2: 36,568,681	S28P	possibly damaging	Het
Olfr488	T	A	7: 108,256,141		probably benign	Het
Prtg	G	A	9: 72,890,869	V706M	probably damaging	Het
Sfxn2	G	T	19: 46,588,272	A186S	probably benign	Het
Slc12a5	A	T	2: 164,982,808		probably benign	Het
Slc7a3	T	C	X: 101,082,833	E222G	probably benign	Het
Stox1	A	T	10: 62,664,047	H911Q	probably benign	Het
Sult3a2	A	T	10: 33,766,439	N289K	probably benign	Het
Supt20	A	G	3: 54,715,524		probably benign	Het
Tchh	A	G	3: 93,444,078	E275G	unknown	Het
Tectb	A	T	19: 55,191,511	N263I	probably damaging	Het
Tsga10	C	T	1: 37,760,985	R608Q	possibly damaging	Het
Ttyh3	A	G	5: 140,629,464	Y390H	probably damaging	Het
Utf1	C	A	7: 139,944,016	S48*	probably null	Het
Zfp358	G	A	8: 3,496,786	G456D	probably benign	Het
Zufsp	A	G	10: 33,930,154		probably null	Het

Other mutations in Fnbp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:Fnbp4	APN	2	90751622	splice site	probably benign
IGL00731:Fnbp4	APN	2	90768643	missense	probably benign
IGL01021:Fnbp4	APN	2	90777669	missense	probably benign	0.06
IGL01097:Fnbp4	APN	2	90776350	missense	possibly damaging	0.63
IGL02504:Fnbp4	APN	2	90768543	missense	probably damaging	1.00
IGL02673:Fnbp4	APN	2	90763472	missense	probably benign	0.01
IGL03024:Fnbp4	APN	2	90751179	missense	probably benign	0.11
IGL03221:Fnbp4	APN	2	90777718	missense	possibly damaging	0.65
R0570:Fnbp4	UTSW	2	90752957	missense	probably damaging	1.00
R1914:Fnbp4	UTSW	2	90779193	unclassified	probably benign
R1925:Fnbp4	UTSW	2	90765843	missense	probably damaging	1.00
R2051:Fnbp4	UTSW	2	90757532	missense	probably benign	0.05
R2069:Fnbp4	UTSW	2	90758372	missense	probably damaging	1.00
R2165:Fnbp4	UTSW	2	90767399	splice site	probably null
R2262:Fnbp4	UTSW	2	90757404	missense	probably damaging	1.00
R3836:Fnbp4	UTSW	2	90746785	missense	probably damaging	1.00
R4077:Fnbp4	UTSW	2	90758477	nonsense	probably null
R4356:Fnbp4	UTSW	2	90758339	missense	probably damaging	1.00
R4401:Fnbp4	UTSW	2	90746758	missense	possibly damaging	0.62
R4491:Fnbp4	UTSW	2	90752968	critical splice donor site	probably null
R4914:Fnbp4	UTSW	2	90751169	missense	probably benign	0.00
R4981:Fnbp4	UTSW	2	90765830	missense	probably damaging	1.00
R5165:Fnbp4	UTSW	2	90777657	missense	possibly damaging	0.65
R5272:Fnbp4	UTSW	2	90753115	missense	probably benign
R5683:Fnbp4	UTSW	2	90752862	missense	probably damaging	1.00
R5860:Fnbp4	UTSW	2	90757482	missense	probably benign	0.00
R5905:Fnbp4	UTSW	2	90751134	missense	probably benign	0.29
R5914:Fnbp4	UTSW	2	90774793	intron	probably benign
R6028:Fnbp4	UTSW	2	90751134	missense	probably benign	0.29
R6270:Fnbp4	UTSW	2	90757463	missense	probably damaging	1.00
R6379:Fnbp4	UTSW	2	90751124	missense	probably benign	0.41
R6389:Fnbp4	UTSW	2	90745535	missense	unknown
R6883:Fnbp4	UTSW	2	90745828	critical splice donor site	probably null
R6940:Fnbp4	UTSW	2	90745514	missense	unknown
R7242:Fnbp4	UTSW	2	90745796	missense	unknown
R7393:Fnbp4	UTSW	2	90779316	missense	probably damaging	0.99
R7454:Fnbp4	UTSW	2	90777815	unclassified	probably benign
R7455:Fnbp4	UTSW	2	90777815	unclassified	probably benign
R8051:Fnbp4	UTSW	2	90777739	missense	possibly damaging	0.77
R8283:Fnbp4	UTSW	2	90746771	missense	probably damaging	0.98
R8724:Fnbp4	UTSW	2	90746753	missense	probably damaging	1.00

Posted On

2015-04-16