Mutagenetix > Incidental Mutation

Incidental Mutation 'R1925:Fnbp4'

213326

Institutional Source

Beutler Lab

Gene Symbol

Fnbp4

Ensembl Gene

ENSMUSG00000008200

Gene Name

formin binding protein 4

Synonyms

FBP30

MMRRC Submission

039943-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.918) question?

Stock #

R1925 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90575793-90611365 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90596187 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 586 (E586G)

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: E586G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000013759
Gene: ENSMUSG00000008200
AA Change: E586G

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

0.2305

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.2%

Validation Efficiency

99% (79/80)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,617,333 (GRCm39)	H577R	probably damaging	Het
Acvr1	T	C	2: 58,337,661 (GRCm39)	M474V	probably damaging	Het
Adam1a	A	T	5: 121,657,513 (GRCm39)	C593*	probably null	Het
Agap2	A	G	10: 126,926,744 (GRCm39)	N927S	probably damaging	Het
Ahctf1	T	C	1: 179,598,218 (GRCm39)	H958R	probably damaging	Het
Apaf1	A	G	10: 90,835,581 (GRCm39)	V1088A	probably damaging	Het
Brpf1	G	T	6: 113,296,891 (GRCm39)	K958N	probably damaging	Het
Cadps	A	G	14: 12,705,726 (GRCm38)	I223T	probably damaging	Het
Catsperg2	T	C	7: 29,397,189 (GRCm39)	M1105V	probably benign	Het
Clasp2	T	A	9: 113,735,265 (GRCm39)	F1033L	possibly damaging	Het
Col4a3	T	A	1: 82,678,094 (GRCm39)	I1232N	unknown	Het
Col4a3	T	G	1: 82,689,595 (GRCm39)		probably benign	Het
Comtd1	T	G	14: 21,897,731 (GRCm39)	E134A	probably damaging	Het
Cyp2c55	A	T	19: 39,022,821 (GRCm39)	T320S	probably benign	Het
Dlx2	T	C	2: 71,376,522 (GRCm39)	N72S	probably benign	Het
Dnhd1	T	A	7: 105,301,459 (GRCm39)	V272E	probably damaging	Het
Dnhd1	T	A	7: 105,323,061 (GRCm39)	I523N	probably damaging	Het
Dpysl3	T	A	18: 43,465,996 (GRCm39)	I140F	probably damaging	Het
Elmod2	G	A	8: 84,048,093 (GRCm39)	A123V	probably benign	Het
Etv4	T	C	11: 101,662,507 (GRCm39)		probably benign	Het
F3	A	T	3: 121,523,032 (GRCm39)	T81S	probably damaging	Het
Faf2	C	T	13: 54,799,865 (GRCm39)	A224V	probably damaging	Het
Fbn1	A	T	2: 125,205,549 (GRCm39)	M1109K	probably damaging	Het
Gm10428	G	T	11: 62,644,179 (GRCm39)		probably benign	Het
Gm5884	A	T	6: 128,622,050 (GRCm39)		noncoding transcript	Het
Gm6471	T	A	7: 142,385,319 (GRCm39)		noncoding transcript	Het
Gtse1	T	C	15: 85,757,939 (GRCm39)	V515A	probably benign	Het
H2-M2	T	C	17: 37,793,391 (GRCm39)	E205G	probably damaging	Het
Ido1	T	A	8: 25,075,306 (GRCm39)	T259S	possibly damaging	Het
Il1r2	A	G	1: 40,154,308 (GRCm39)	Y225C	probably damaging	Het
Kcnq3	T	G	15: 65,876,658 (GRCm39)	D495A	possibly damaging	Het
Lrrc49	T	C	9: 60,556,773 (GRCm39)	N321D	probably benign	Het
Lztr1	G	T	16: 17,341,247 (GRCm39)	R291L	probably damaging	Het
Micu1	C	T	10: 59,568,983 (GRCm39)		probably benign	Het
Msh5	C	T	17: 35,248,928 (GRCm39)	V702I	probably benign	Het
Myh1	T	C	11: 67,101,996 (GRCm39)	I792T	probably benign	Het
Nav1	T	A	1: 135,534,967 (GRCm39)		probably benign	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Or11i1	C	T	3: 106,729,688 (GRCm39)	M62I	probably damaging	Het
Or5ac22	A	G	16: 59,135,027 (GRCm39)	S248P	probably damaging	Het
Or8u9	T	C	2: 86,001,354 (GRCm39)	D269G	probably benign	Het
Otof	G	C	5: 30,551,532 (GRCm39)	N340K	probably benign	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Plek2	T	A	12: 78,941,664 (GRCm39)	Y155F	probably damaging	Het
Ppa1	T	A	10: 61,487,388 (GRCm39)	Y38*	probably null	Het
Pramel22	T	A	4: 143,381,025 (GRCm39)	T333S	probably damaging	Het
Prmt9	T	A	8: 78,303,968 (GRCm39)	C684S	possibly damaging	Het
Rasl10a	A	G	11: 5,009,473 (GRCm39)	D87G	possibly damaging	Het
Rtn4rl1	C	A	11: 75,156,864 (GRCm39)	P432Q	probably benign	Het
Scd4	T	G	19: 44,329,823 (GRCm39)	Y265D	probably damaging	Het
Scn5a	C	T	9: 119,358,085 (GRCm39)	A719T	probably benign	Het
Sdk1	T	A	5: 142,171,040 (GRCm39)	F1968I	probably benign	Het
Sh3bp5	T	C	14: 31,157,880 (GRCm39)	E12G	probably benign	Het
Slc6a12	T	A	6: 121,337,485 (GRCm39)	F390I	probably benign	Het
Snapin	A	T	3: 90,397,539 (GRCm39)	D77E	possibly damaging	Het
Sox2	G	T	3: 34,704,820 (GRCm39)	E86*	probably null	Het
Sparcl1	A	G	5: 104,241,220 (GRCm39)	L68P	probably benign	Het
Sptb	T	A	12: 76,669,027 (GRCm39)	E562V	probably damaging	Het
Taar3	A	T	10: 23,826,483 (GRCm39)	H343L	probably benign	Het
Tanc1	T	A	2: 59,555,095 (GRCm39)	V51E	possibly damaging	Het
Tbc1d22a	T	C	15: 86,123,350 (GRCm39)	S128P	probably damaging	Het
Thada	A	G	17: 84,751,927 (GRCm39)	S350P	probably benign	Het
Tmem161b	T	C	13: 84,408,348 (GRCm39)	V93A	probably benign	Het
Tnn	T	C	1: 159,924,799 (GRCm39)	Y1185C	probably damaging	Het
Trim43a	T	C	9: 88,464,371 (GRCm39)	V94A	probably benign	Het
Ttll12	C	T	15: 83,465,976 (GRCm39)	E407K	probably benign	Het
Ttn	T	C	2: 76,555,856 (GRCm39)	E30383G	probably damaging	Het
Vmn1r29	T	A	6: 58,285,087 (GRCm39)	M269K	possibly damaging	Het
Vmn2r117	A	G	17: 23,697,363 (GRCm39)	S110P	probably benign	Het
Vmn2r6	C	A	3: 64,463,698 (GRCm39)	V290L	possibly damaging	Het
Vmn2r8	A	T	5: 108,950,019 (GRCm39)	L276Q	probably damaging	Het
Zan	C	A	5: 137,423,904 (GRCm39)	C2665F	unknown	Het
Zfp507	C	T	7: 35,493,150 (GRCm39)	R631Q	probably damaging	Het
Zfp983	A	G	17: 21,880,933 (GRCm39)	H287R	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
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

Predicted Primers

PCR Primer
(F):5'- TGTTGAAATCCATGTGTGCG -3'
(R):5'- ACAGGAGCACCACTTATACATG -3'

Sequencing Primer
(F):5'- TGCTCTTCCAAAGGTCCGAAG -3'
(R):5'- GGCCTCTGTAGGTATCTGAACAC -3'

Posted On

2014-07-14