Mutagenetix > Incidental Mutation

Incidental Mutation 'R6389:Fnbp4'

515670

Institutional Source

Beutler Lab

Gene Symbol

Fnbp4

Ensembl Gene

ENSMUSG00000008200

Gene Name

formin binding protein 4

Synonyms

FBP30

MMRRC Submission

044538-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.918) question?

Stock #

R6389 (G1)

Quality Score

146.008

Status

Validated

Chromosome

Chromosomal Location

90575793-90611365 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 90575879 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 27 (P27S)

Ref Sequence

ENSEMBL: ENSMUSP00000013759 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000013759
AA Change: P27S

SMART Domains

Protein: ENSMUSP00000013759
Gene: ENSMUSG00000008200
AA Change: P27S

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

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.9%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	A	C	7: 43,147,254 (GRCm39)	L326R	possibly damaging	Het
Abcb11	A	T	2: 69,154,238 (GRCm39)	N109K	probably damaging	Het
Actn1	T	A	12: 80,221,296 (GRCm39)	M586L	probably benign	Het
Ago4	T	A	4: 126,401,037 (GRCm39)	I603F	probably damaging	Het
Bicc1	A	T	10: 70,794,752 (GRCm39)	V135D	probably damaging	Het
Bms1	T	C	6: 118,380,196 (GRCm39)	N704D	possibly damaging	Het
Cadm4	A	C	7: 24,198,959 (GRCm39)	Q78P	probably benign	Het
Cfap74	T	C	4: 155,507,793 (GRCm39)	I248T	possibly damaging	Het
Clu	G	C	14: 66,208,771 (GRCm39)		probably benign	Het
Cnnm3	T	C	1: 36,559,603 (GRCm39)	V514A	probably damaging	Het
Cntd1	A	T	11: 101,176,577 (GRCm39)	I225F	probably damaging	Het
Col20a1	T	C	2: 180,634,376 (GRCm39)		probably null	Het
Ctnnal1	A	G	4: 56,813,849 (GRCm39)	V640A	probably benign	Het
Cul4a	A	G	8: 13,190,278 (GRCm39)	T572A	probably benign	Het
D16Ertd472e	A	G	16: 78,342,071 (GRCm39)	S270P	probably damaging	Het
Dmp1	A	T	5: 104,360,788 (GRCm39)	N488I	probably damaging	Het
Dnah14	G	A	1: 181,478,767 (GRCm39)		probably null	Het
Dst	T	C	1: 34,232,265 (GRCm39)	L3464P	probably damaging	Het
Fpr-rs3	A	T	17: 20,844,230 (GRCm39)	F304I	probably damaging	Het
Gm13941	T	C	2: 110,928,734 (GRCm39)	Q108R	unknown	Het
Hcn3	C	T	3: 89,058,240 (GRCm39)	A339T	possibly damaging	Het
Inpp5f	A	G	7: 128,279,780 (GRCm39)	D460G	probably damaging	Het
Ism2	T	C	12: 87,329,145 (GRCm39)	E253G	possibly damaging	Het
Klrg1	T	C	6: 122,248,431 (GRCm39)	N156S	probably damaging	Het
Ksr2	A	G	5: 117,552,907 (GRCm39)	N5S	probably benign	Het
Lrrc7	T	G	3: 157,891,063 (GRCm39)	E368A	probably damaging	Het
Ly9	G	C	1: 171,424,105 (GRCm39)	S482C	probably damaging	Het
Map3k1	T	C	13: 111,905,975 (GRCm39)	D289G	probably damaging	Het
Mcub	T	C	3: 129,712,357 (GRCm39)	T173A	probably benign	Het
Mup16	T	C	4: 61,437,177 (GRCm39)	E48G	probably damaging	Het
Naf1	C	T	8: 67,313,680 (GRCm39)	S24L	possibly damaging	Het
Ncoa6	A	G	2: 155,237,736 (GRCm39)	S2024P	probably damaging	Het
Nop56	C	A	2: 130,119,807 (GRCm39)	Q83K	probably damaging	Het
Nt5e	T	C	9: 88,245,524 (GRCm39)	Y265H	probably damaging	Het
Odad1	G	T	7: 45,597,940 (GRCm39)	V617F	probably benign	Het
Or4a27	A	G	2: 88,559,016 (GRCm39)	V309A	probably benign	Het
Or52p2	A	T	7: 102,237,679 (GRCm39)	N90K	probably benign	Het
Or5w8	C	T	2: 87,688,367 (GRCm39)	P283S	probably damaging	Het
Oxct2a	T	A	4: 123,217,220 (GRCm39)	K54*	probably null	Het
Oxct2b	G	T	4: 123,010,367 (GRCm39)	D96Y	probably benign	Het
Pisd	A	G	5: 32,922,191 (GRCm39)	Y250H	probably damaging	Het
Plekhm1	G	T	11: 103,257,720 (GRCm39)	N1071K	probably benign	Het
Prr11	G	A	11: 86,989,564 (GRCm39)	T269I	possibly damaging	Het
Ptpn4	T	A	1: 119,649,684 (GRCm39)	H304L	probably damaging	Het
Rrp1b	A	G	17: 32,275,601 (GRCm39)	K383E	possibly damaging	Het
Sel1l2	C	A	2: 140,087,274 (GRCm39)	A466S	probably damaging	Het
Slc9a4	A	G	1: 40,619,844 (GRCm39)	I57V	probably benign	Het
Spag9	A	G	11: 93,977,137 (GRCm39)	E81G	probably damaging	Het
Tbr1	A	G	2: 61,636,631 (GRCm39)		probably benign	Het
Tnrc6c	A	G	11: 117,613,567 (GRCm39)	D735G	probably damaging	Het
Tspan17	A	T	13: 54,943,429 (GRCm39)		probably null	Het
Tyw5	T	C	1: 57,430,658 (GRCm39)	K175R	probably damaging	Het
Ube2o	A	C	11: 116,439,684 (GRCm39)	I162R	probably null	Het
Ubr1	G	T	2: 120,711,520 (GRCm39)	T1458K	probably benign	Het
Vmn2r16	A	T	5: 109,478,344 (GRCm39)	Q33L	probably benign	Het
Zfp1007	G	A	5: 109,823,885 (GRCm39)	P522S	possibly damaging	Het
Zfp799	A	G	17: 33,039,552 (GRCm39)	L238P	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
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
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'- CGAGTCCGTCTCAAGTCAAAAC -3'
(R):5'- TTCTGAAGGCGAGTCCTCTG -3'

Sequencing Primer
(F):5'- GTCAAAACAGCCAATCGCCTTTTC -3'
(R):5'- AGTCGAATCTGCCTCGGGATC -3'

Posted On

2018-05-04