Mutagenetix > Incidental Mutation

Incidental Mutation 'R2165:Fnbp4'

235399

Institutional Source

Beutler Lab

Gene Symbol

Fnbp4

Ensembl Gene

ENSMUSG00000008200

Gene Name

formin binding protein 4

Synonyms

FBP30

MMRRC Submission

040168-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.922) question?

Stock #

R2165 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90745370-90781021 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 90767399 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000013759 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000013759

SMART Domains

Protein: ENSMUSP00000013759
Gene: ENSMUSG00000008200

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: ENSMUST00000135592

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141672

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142631

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145747

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152794

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

99% (71/72)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 122,112,399 (GRCm38)	T806A	possibly damaging	Het
Adgre1	T	G	17: 57,419,338 (GRCm38)	L403R	probably damaging	Het
AF067061	A	T	13: 120,264,097 (GRCm38)	Q99L	probably damaging	Het
Alox12	A	T	11: 70,242,572 (GRCm38)		probably null	Het
Ankib1	A	T	5: 3,713,210 (GRCm38)	D506E	possibly damaging	Het
Ascc3	T	G	10: 50,721,839 (GRCm38)	Y1268D	probably damaging	Het
Bik	A	G	15: 83,541,423 (GRCm38)	M42V	probably benign	Het
Bola1	A	T	3: 96,197,201 (GRCm38)	S26T	probably benign	Het
Bub1	T	C	2: 127,801,281 (GRCm38)	I1048V	probably benign	Het
Cad	A	G	5: 31,062,220 (GRCm38)	N621S	probably damaging	Het
Camkv	C	A	9: 107,945,600 (GRCm38)	N69K	possibly damaging	Het
Ccdc110	T	C	8: 45,942,839 (GRCm38)	M589T	probably benign	Het
Ccdc154	T	A	17: 25,170,890 (GRCm38)	V498E	probably damaging	Het
Ccr1l1	A	G	9: 123,977,654 (GRCm38)	L252P	probably damaging	Het
Cdh1	T	C	8: 106,664,321 (GRCm38)	C690R	probably damaging	Het
Cfap157	T	G	2: 32,778,163 (GRCm38)		probably null	Het
Cux2	A	G	5: 121,887,477 (GRCm38)	S43P	possibly damaging	Het
Cyb5rl	C	T	4: 107,068,683 (GRCm38)	P21S	probably damaging	Het
Cyp51	T	G	5: 4,086,594 (GRCm38)	Q400P	probably damaging	Het
Dnah7b	T	C	1: 46,097,992 (GRCm38)		probably benign	Het
Ephb4	A	G	5: 137,354,426 (GRCm38)	I90M	probably benign	Het
Fam13c	A	G	10: 70,542,693 (GRCm38)	N269S	probably damaging	Het
Fam83c	T	A	2: 155,831,524 (GRCm38)	Y248F	possibly damaging	Het
Fat2	A	G	11: 55,303,716 (GRCm38)	F1166L	probably benign	Het
Fem1a	A	G	17: 56,257,686 (GRCm38)	N260D	probably benign	Het
Fut9	T	A	4: 25,619,733 (GRCm38)	*360Y	probably null	Het
Fut9	T	A	4: 25,619,734 (GRCm38)	*360L	probably null	Het
Gm11639	G	A	11: 104,751,862 (GRCm38)	V1104I	possibly damaging	Het
Gm3727	T	A	14: 7,264,625 (GRCm38)	Q10L	probably damaging	Het
Gpat2	G	A	2: 127,428,291 (GRCm38)	V75M	probably damaging	Het
Haspin	A	C	11: 73,136,630 (GRCm38)	N544K	probably damaging	Het
Havcr1	A	G	11: 46,778,552 (GRCm38)	N286S	probably benign	Het
Lrp6	A	C	6: 134,459,283 (GRCm38)	C1307G	probably damaging	Het
Lrrc2	A	C	9: 110,979,577 (GRCm38)	H294P	possibly damaging	Het
Mon2	A	C	10: 123,042,364 (GRCm38)		probably null	Het
Mrc2	G	A	11: 105,348,431 (GRCm38)		probably null	Het
Mrgprb1	T	C	7: 48,447,322 (GRCm38)	I281V	probably benign	Het
Muc4	A	G	16: 32,750,476 (GRCm38)	E118G	probably damaging	Het
Nefh	T	C	11: 4,943,872 (GRCm38)	D394G	probably damaging	Het
Neurl4	A	G	11: 69,903,221 (GRCm38)	T168A	probably benign	Het
Olfr347	T	A	2: 36,734,701 (GRCm38)	C127S	probably damaging	Het
Olfr642	T	C	7: 104,049,638 (GRCm38)	T239A	probably benign	Het
Olfr982	A	G	9: 40,074,915 (GRCm38)	N207D	possibly damaging	Het
Olfr987	A	T	2: 85,331,102 (GRCm38)	N265K	probably benign	Het
Oxsr1	A	C	9: 119,294,432 (GRCm38)	M92R	probably damaging	Het
Pde8a	T	C	7: 81,295,768 (GRCm38)		probably null	Het
Pex5l	T	A	3: 32,953,132 (GRCm38)		probably null	Het
Pik3r4	T	A	9: 105,672,785 (GRCm38)	M1025K	probably benign	Het
Plch1	C	T	3: 63,698,482 (GRCm38)	E1325K	probably benign	Het
Plin2	A	T	4: 86,668,432 (GRCm38)	V54E	probably damaging	Het
Pqlc3	G	A	12: 16,989,839 (GRCm38)	L192F	probably damaging	Het
Prss47	A	T	13: 65,045,073 (GRCm38)	I298N	probably damaging	Het
Prune2	A	G	19: 17,120,182 (GRCm38)	R1017G	probably benign	Het
Psg19	T	A	7: 18,796,986 (GRCm38)	Y81F	possibly damaging	Het
Ptch1	T	G	13: 63,524,959 (GRCm38)	E944A	probably benign	Het
Rrnad1	A	T	3: 87,927,053 (GRCm38)		probably null	Het
Serpinb1a	T	C	13: 32,850,414 (GRCm38)		probably benign	Het
Sh3pxd2a	A	T	19: 47,278,355 (GRCm38)	V265E	probably damaging	Het
Slc22a17	A	T	14: 54,908,825 (GRCm38)	Y337*	probably null	Het
Slc25a27	A	G	17: 43,657,772 (GRCm38)	V138A	probably benign	Het
Slc4a2	A	G	5: 24,431,316 (GRCm38)	Y220C	probably damaging	Het
Stab1	A	T	14: 31,168,435 (GRCm38)	S20T	probably benign	Het
Thsd1	G	T	8: 22,238,522 (GRCm38)		probably benign	Het
Tmem204	G	A	17: 25,080,592 (GRCm38)		probably benign	Het
Tom1l1	A	G	11: 90,649,895 (GRCm38)		probably benign	Het
Toporsl	T	A	4: 52,612,072 (GRCm38)	F655Y	possibly damaging	Het
Vmn2r98	A	G	17: 19,081,291 (GRCm38)	K852E	unknown	Het
Wdpcp	T	G	11: 21,691,884 (GRCm38)	L174R	probably damaging	Het
Zbbx	G	A	3: 75,112,107 (GRCm38)	P99S	probably damaging	Het
Zfhx4	C	T	3: 5,403,358 (GRCm38)	P2859S	probably benign	Het
Zfp600	A	T	4: 146,196,918 (GRCm38)	R719*	probably null	Het
Zfp697	C	A	3: 98,428,014 (GRCm38)	A365E	unknown	Het
Zfp957	A	C	14: 79,213,613 (GRCm38)	S249A	probably benign	Het

Other mutations in Fnbp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:Fnbp4	APN	2	90,751,622 (GRCm38)	splice site	probably benign
IGL00731:Fnbp4	APN	2	90,768,643 (GRCm38)	missense	probably benign
IGL01021:Fnbp4	APN	2	90,777,669 (GRCm38)	missense	probably benign	0.06
IGL01097:Fnbp4	APN	2	90,776,350 (GRCm38)	missense	possibly damaging	0.63
IGL02504:Fnbp4	APN	2	90,768,543 (GRCm38)	missense	probably damaging	1.00
IGL02510:Fnbp4	APN	2	90,751,475 (GRCm38)	missense	probably benign
IGL02673:Fnbp4	APN	2	90,763,472 (GRCm38)	missense	probably benign	0.01
IGL03024:Fnbp4	APN	2	90,751,179 (GRCm38)	missense	probably benign	0.11
IGL03221:Fnbp4	APN	2	90,777,718 (GRCm38)	missense	possibly damaging	0.65
R0570:Fnbp4	UTSW	2	90,752,957 (GRCm38)	missense	probably damaging	1.00
R1914:Fnbp4	UTSW	2	90,779,193 (GRCm38)	unclassified	probably benign
R1925:Fnbp4	UTSW	2	90,765,843 (GRCm38)	missense	probably damaging	1.00
R2051:Fnbp4	UTSW	2	90,757,532 (GRCm38)	missense	probably benign	0.05
R2069:Fnbp4	UTSW	2	90,758,372 (GRCm38)	missense	probably damaging	1.00
R2262:Fnbp4	UTSW	2	90,757,404 (GRCm38)	missense	probably damaging	1.00
R3836:Fnbp4	UTSW	2	90,746,785 (GRCm38)	missense	probably damaging	1.00
R4077:Fnbp4	UTSW	2	90,758,477 (GRCm38)	nonsense	probably null
R4356:Fnbp4	UTSW	2	90,758,339 (GRCm38)	missense	probably damaging	1.00
R4401:Fnbp4	UTSW	2	90,746,758 (GRCm38)	missense	possibly damaging	0.62
R4491:Fnbp4	UTSW	2	90,752,968 (GRCm38)	critical splice donor site	probably null
R4914:Fnbp4	UTSW	2	90,751,169 (GRCm38)	missense	probably benign	0.00
R4981:Fnbp4	UTSW	2	90,765,830 (GRCm38)	missense	probably damaging	1.00
R5165:Fnbp4	UTSW	2	90,777,657 (GRCm38)	missense	possibly damaging	0.65
R5272:Fnbp4	UTSW	2	90,753,115 (GRCm38)	missense	probably benign
R5683:Fnbp4	UTSW	2	90,752,862 (GRCm38)	missense	probably damaging	1.00
R5860:Fnbp4	UTSW	2	90,757,482 (GRCm38)	missense	probably benign	0.00
R5905:Fnbp4	UTSW	2	90,751,134 (GRCm38)	missense	probably benign	0.29
R5914:Fnbp4	UTSW	2	90,774,793 (GRCm38)	intron	probably benign
R6028:Fnbp4	UTSW	2	90,751,134 (GRCm38)	missense	probably benign	0.29
R6270:Fnbp4	UTSW	2	90,757,463 (GRCm38)	missense	probably damaging	1.00
R6379:Fnbp4	UTSW	2	90,751,124 (GRCm38)	missense	probably benign	0.41
R6389:Fnbp4	UTSW	2	90,745,535 (GRCm38)	missense	unknown
R6883:Fnbp4	UTSW	2	90,745,828 (GRCm38)	critical splice donor site	probably null
R6940:Fnbp4	UTSW	2	90,745,514 (GRCm38)	missense	unknown
R7242:Fnbp4	UTSW	2	90,745,796 (GRCm38)	missense	unknown
R7393:Fnbp4	UTSW	2	90,779,316 (GRCm38)	missense	probably damaging	0.99
R7454:Fnbp4	UTSW	2	90,777,815 (GRCm38)	unclassified	probably benign
R7455:Fnbp4	UTSW	2	90,777,815 (GRCm38)	unclassified	probably benign
R8051:Fnbp4	UTSW	2	90,777,739 (GRCm38)	missense	possibly damaging	0.77
R8283:Fnbp4	UTSW	2	90,746,771 (GRCm38)	missense	probably damaging	0.98
R8724:Fnbp4	UTSW	2	90,746,753 (GRCm38)	missense	probably damaging	1.00
R8845:Fnbp4	UTSW	2	90,776,024 (GRCm38)	missense	probably benign
R9103:Fnbp4	UTSW	2	90,777,843 (GRCm38)	missense	probably benign
R9140:Fnbp4	UTSW	2	90,745,733 (GRCm38)	missense	unknown
R9617:Fnbp4	UTSW	2	90,758,394 (GRCm38)	missense	probably benign	0.28

Predicted Primers

PCR Primer
(F):5'- TCCATTAGAGCATAGTGATACAGTC -3'
(R):5'- GGTGGTGGTGATCACAAATCATG -3'

Sequencing Primer
(F):5'- CAAGACAGGGTCTCTCTGTGTAGC -3'
(R):5'- GTGGTGATCACAAATCATGTCTGAG -3'

Posted On

2014-10-01