Mutagenetix > Incidental Mutation

Incidental Mutation 'R8283:Fnbp4'

638293

Institutional Source

Beutler Lab

Gene Symbol

Fnbp4

Ensembl Gene

ENSMUSG00000008200

Gene Name

formin binding protein 4

Synonyms

FBP30

MMRRC Submission

067706-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.918) question?

Stock #

R8283 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

90575793-90611365 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 90577115 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 149 (T149K)

Ref Sequence

ENSEMBL: ENSMUSP00000013759 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000013759
AA Change: T149K

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000013759
Gene: ENSMUSG00000008200
AA Change: T149K

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: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	C	T	5: 8,856,086 (GRCm39)	P65S	probably damaging	Het
Adcy3	A	T	12: 4,250,935 (GRCm39)	R565W	probably damaging	Het
Arl14	A	T	3: 69,129,868 (GRCm39)	N5I	probably benign	Het
Arl6ip6	A	G	2: 53,082,250 (GRCm39)	E39G	possibly damaging	Het
Aven	C	T	2: 112,390,120 (GRCm39)	R8W	probably benign	Het
Axl	C	T	7: 25,463,379 (GRCm39)	D633N	probably benign	Het
Boc	A	T	16: 44,340,800 (GRCm39)	L50Q	noncoding transcript	Het
Calml3	A	G	13: 3,854,097 (GRCm39)	V36A	probably damaging	Het
Ccdc183	G	A	2: 25,502,160 (GRCm39)	A238V	probably damaging	Het
Ccndbp1	A	G	2: 120,839,065 (GRCm39)		probably benign	Het
Ccr9	A	G	9: 123,608,696 (GRCm39)	Y126C	probably damaging	Het
Cdhr1	T	C	14: 36,804,737 (GRCm39)	N491S	probably benign	Het
Celsr2	C	T	3: 108,303,771 (GRCm39)	G2429D	probably damaging	Het
Cts6	T	C	13: 61,349,457 (GRCm39)	T84A	probably damaging	Het
Dcpp2	T	C	17: 24,118,384 (GRCm39)		probably null	Het
Drosha	A	G	15: 12,890,587 (GRCm39)	I945V	possibly damaging	Het
Dsg1b	A	G	18: 20,524,963 (GRCm39)	Q133R	probably benign	Het
Enpp1	T	A	10: 24,550,554 (GRCm39)	E174D	probably benign	Het
Esrrb	A	G	12: 86,468,732 (GRCm39)	H15R	probably benign	Het
Fbxl12	T	C	9: 20,550,017 (GRCm39)	T213A	probably benign	Het
Foxj1	A	T	11: 116,224,893 (GRCm39)	F158Y	probably benign	Het
Frrs1	A	G	3: 116,671,952 (GRCm39)	T17A	probably benign	Het
Gm10110	C	T	14: 90,135,677 (GRCm39)	V76M	noncoding transcript	Het
Gm45844	T	C	7: 7,244,901 (GRCm39)	Y11C	possibly damaging	Het
Hnrnpl	T	C	7: 28,513,697 (GRCm39)	V220A		Het
Iars2	T	A	1: 185,020,288 (GRCm39)	R949*	probably null	Het
Ice1	T	C	13: 70,752,549 (GRCm39)	E1179G	probably damaging	Het
Mast4	A	G	13: 102,895,177 (GRCm39)	L782P	probably damaging	Het
Mcmdc2	A	C	1: 10,004,263 (GRCm39)	K581T	possibly damaging	Het
Men1	A	T	19: 6,386,848 (GRCm39)	D186V	probably damaging	Het
Morc2b	T	G	17: 33,355,675 (GRCm39)	N699T	probably benign	Het
Mrgpra2b	A	G	7: 47,114,465 (GRCm39)	L89P	probably damaging	Het
Naip1	C	T	13: 100,563,695 (GRCm39)	G490E	probably damaging	Het
Ntm	T	C	9: 28,923,508 (GRCm39)	Y224C	probably damaging	Het
Nup88	A	T	11: 70,849,166 (GRCm39)	D262E	probably benign	Het
Or10ag52	T	C	2: 87,043,683 (GRCm39)	V149A	probably benign	Het
Or51l4	T	A	7: 103,404,019 (GRCm39)	I258L	possibly damaging	Het
Or8b54	G	A	9: 38,686,577 (GRCm39)	V9M	noncoding transcript	Het
Oscp1	A	G	4: 125,980,393 (GRCm39)	M293V	probably benign	Het
Pcdhgc3	C	A	18: 37,940,694 (GRCm39)	A365D	probably damaging	Het
Pcyt2	A	T	11: 120,501,548 (GRCm39)	F388I	probably benign	Het
Pgm2l1	C	G	7: 99,902,460 (GRCm39)	A136G	probably benign	Het
Phf14	T	G	6: 11,987,636 (GRCm39)	D638E	probably benign	Het
Pnpla7	A	G	2: 24,940,935 (GRCm39)	K1096E	probably damaging	Het
Prkcb	T	A	7: 122,199,948 (GRCm39)	C586*	probably null	Het
Rnf187	T	A	11: 58,829,241 (GRCm39)	R124W	probably damaging	Het
Sema3a	T	C	5: 13,450,030 (GRCm39)	Y36H	probably damaging	Het
Setd7	T	G	3: 51,428,796 (GRCm39)	S345R	probably benign	Het
Sgms1	T	C	19: 32,137,035 (GRCm39)	D177G	probably damaging	Het
Snx19	T	C	9: 30,374,522 (GRCm39)	L927S	possibly damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Sorl1	T	C	9: 41,942,294 (GRCm39)	D977G	probably damaging	Het
Sptan1	C	T	2: 29,870,212 (GRCm39)	R121W	probably damaging	Het
Srgap2	T	C	1: 131,291,771 (GRCm39)	D152G	probably damaging	Het
Suclg2	T	A	6: 95,474,700 (GRCm39)		probably null	Het
Tacc2	T	C	7: 130,227,034 (GRCm39)	S1240P	probably benign	Het
Tbc1d12	C	T	19: 38,825,353 (GRCm39)	A68V	probably benign	Het
Tex14	G	A	11: 87,365,241 (GRCm39)	D62N	probably damaging	Het
Thyn1	C	T	9: 26,918,155 (GRCm39)	T181I	probably benign	Het
Trio	T	A	15: 27,756,628 (GRCm39)	H2056L	possibly damaging	Het
Ubn2	T	A	6: 38,475,663 (GRCm39)	L1207Q	probably damaging	Het
Usp17lb	T	C	7: 104,490,013 (GRCm39)	S305G	probably damaging	Het
Vmn2r101	T	A	17: 19,832,253 (GRCm39)	Y750N	probably damaging	Het
Wif1	G	A	10: 120,931,952 (GRCm39)	S292N	probably benign	Het
Xpo6	T	G	7: 125,727,421 (GRCm39)	Q528H	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGTTTGCATCAGTGATACACGC -3'
(R):5'- AAGAGTGGAACCCAGAGTTTTGC -3'

Sequencing Primer
(F):5'- CACGCTGGTTTTATAAGTTGATTCAG -3'
(R):5'- GTGGAACCCAGAGTTTTGCATCTC -3'

Posted On

2020-07-28