Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01097:Fnbp4'

50496

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fnbp4

Ensembl Gene

ENSMUSG00000008200

Gene Name

formin binding protein 4

Synonyms

FBP30

Accession Numbers

Essential gene?

Probably essential (E-score: 0.934) question?

Stock #

IGL01097

Quality Score

Status

Chromosome

Chromosomal Location

90575793-90611365 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 90606694 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 835 (A835D)

Ref Sequence

ENSEMBL: ENSMUSP00000013759 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000013759
AA Change: A835D

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000013759
Gene: ENSMUSG00000008200
AA Change: A835D

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: ENSMUST00000123314

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123955

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135592

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141672

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi2	C	T	1: 60,486,505 (GRCm39)	A75V	probably damaging	Het
Bud23	G	A	5: 135,089,935 (GRCm39)	A86V	probably damaging	Het
Dnajc5	T	C	2: 181,189,149 (GRCm39)	Y42H	probably benign	Het
Fchsd1	T	C	18: 38,100,810 (GRCm39)		probably null	Het
Gm57859	T	C	11: 113,583,296 (GRCm39)	I541T	probably benign	Het
Grin2d	A	T	7: 45,502,716 (GRCm39)	N718K	probably damaging	Het
Gsdma3	A	G	11: 98,528,398 (GRCm39)	K357E	probably damaging	Het
Impg2	T	A	16: 56,081,010 (GRCm39)		probably null	Het
Lrrtm2	A	T	18: 35,345,994 (GRCm39)	I436N	probably damaging	Het
Mterf2	T	A	10: 84,955,677 (GRCm39)	I316L	probably damaging	Het
Nav2	G	A	7: 49,220,942 (GRCm39)	A1710T	probably damaging	Het
Nrros	A	G	16: 31,963,003 (GRCm39)	V338A	possibly damaging	Het
Or2f2	T	G	6: 42,767,077 (GRCm39)	Y35D	probably damaging	Het
Or52a20	G	T	7: 103,366,328 (GRCm39)	V176F	probably benign	Het
Pappa2	T	C	1: 158,684,718 (GRCm39)	Y807C	probably damaging	Het
Slc44a4	T	C	17: 35,140,545 (GRCm39)	L246P	probably damaging	Het
Stat6	T	C	10: 127,490,801 (GRCm39)	S407P	probably damaging	Het
Ttpal	T	C	2: 163,449,240 (GRCm39)	Y32H	probably damaging	Het
Zfp523	A	G	17: 28,420,023 (GRCm39)	K223E	possibly 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
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
R9617:Fnbp4	UTSW	2	90,588,738 (GRCm39)	missense	probably benign	0.28

Posted On

2013-06-21