Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02532:Fubp3'

297376

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fubp3

Ensembl Gene

ENSMUSG00000026843

Gene Name

far upstream element (FUSE) binding protein 3

Synonyms

A330051M14Rik, FBP3, Marta2

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.544) question?

Stock #

IGL02532

Quality Score

Status

Chromosome

Chromosomal Location

31572651-31617526 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 31600559 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142262 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055244] [ENSMUST00000113482] [ENSMUST00000134553] [ENSMUST00000154050] [ENSMUST00000194386]

Predicted Effect

probably benign
Transcript: ENSMUST00000055244

SMART Domains

Protein: ENSMUSP00000053474
Gene: ENSMUSG00000026843

Domain	Start	End	E-Value	Type
KH	76	146	2.21e-18	SMART
KH	161	233	1.29e-19	SMART
KH	252	322	9.69e-15	SMART
low complexity region	330	343	N/A	INTRINSIC
KH	353	426	3.48e-16	SMART
low complexity region	490	514	N/A	INTRINSIC
low complexity region	529	538	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113482

SMART Domains

Protein: ENSMUSP00000109110
Gene: ENSMUSG00000026843

Domain	Start	End	E-Value	Type
KH	76	146	2.21e-18	SMART
KH	161	233	1.29e-19	SMART
KH	252	322	9.69e-15	SMART
low complexity region	330	343	N/A	INTRINSIC
KH	353	426	3.48e-16	SMART
low complexity region	490	514	N/A	INTRINSIC
low complexity region	529	538	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000129903

SMART Domains

Protein: ENSMUSP00000117970
Gene: ENSMUSG00000026843

Domain	Start	End	E-Value	Type
Blast:KH	2	35	5e-16	BLAST
low complexity region	43	56	N/A	INTRINSIC
KH	66	139	3.48e-16	SMART
low complexity region	213	227	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000134553

SMART Domains

Protein: ENSMUSP00000141283
Gene: ENSMUSG00000026843

Domain	Start	End	E-Value	Type
KH	10	80	5.9e-17	SMART
low complexity region	88	101	N/A	INTRINSIC
KH	111	184	2.2e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000154050

Predicted Effect

probably benign
Transcript: ENSMUST00000194386

SMART Domains

Protein: ENSMUSP00000142262
Gene: ENSMUSG00000026843

Domain	Start	End	E-Value	Type
KH	64	123	1.3e-2	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	A	C	6: 96,164,790	S424R	probably damaging	Het
2200002D01Rik	T	C	7: 29,248,220	K15E	possibly damaging	Het
Abca2	A	G	2: 25,435,136	T381A	probably benign	Het
Adcy1	T	A	11: 7,144,737	N554K	probably benign	Het
Adcy5	A	G	16: 35,272,083	I605V	possibly damaging	Het
Arhgap11a	G	T	2: 113,833,676	S754*	probably null	Het
Arhgef28	T	A	13: 98,029,883	D319V	probably damaging	Het
Brca2	A	G	5: 150,550,862	D2410G	probably damaging	Het
Carmil2	T	A	8: 105,692,431		probably null	Het
Catip	A	G	1: 74,364,616	N189S	probably damaging	Het
Cd177	T	C	7: 24,745,249	K636E	probably benign	Het
Cep290	A	G	10: 100,545,065	T145A	probably benign	Het
Cthrc1	T	C	15: 39,077,165		probably benign	Het
Efr3b	C	T	12: 3,983,391	V139I	probably benign	Het
Fas	C	A	19: 34,316,599	T118N	probably damaging	Het
Fgd3	G	A	13: 49,285,761	A253V	probably damaging	Het
Fig4	A	G	10: 41,285,281		probably benign	Het
Gria2	T	A	3: 80,706,999	E578V	probably damaging	Het
Gtpbp1	T	A	15: 79,720,077	V662E	probably benign	Het
Hbb-bt	T	C	7: 103,813,874		probably benign	Het
Ighv6-5	T	A	12: 114,416,804	D50V	probably benign	Het
Inpp5k	T	C	11: 75,633,184		probably benign	Het
Kalrn	T	C	16: 34,360,846	N141D	probably damaging	Het
Kbtbd8	A	G	6: 95,126,536	T389A	probably benign	Het
Klhl6	C	A	16: 19,957,082	R242L	possibly damaging	Het
Kmt2b	T	C	7: 30,586,889		probably benign	Het
Krt13	A	T	11: 100,119,369	L262Q	probably damaging	Het
Lingo2	T	C	4: 35,709,171	K270E	possibly damaging	Het
Mroh7	A	G	4: 106,720,591	S297P	probably benign	Het
Ndufs1	G	A	1: 63,170,139	R22C	probably damaging	Het
Nlrp5	T	A	7: 23,409,973	S115T	possibly damaging	Het
Pfpl	A	T	19: 12,428,845	R153S	probably damaging	Het
Pkhd1	T	A	1: 20,117,720	I3455F	probably damaging	Het
Psme1	T	A	14: 55,581,138	Y223*	probably null	Het
R3hdm1	T	C	1: 128,197,099		probably null	Het
Rnf103	A	G	6: 71,509,825	D480G	probably benign	Het
Rnf103	T	G	6: 71,509,652	S422R	probably damaging	Het
Rps6ka2	T	C	17: 7,255,966	V213A	probably damaging	Het
Sort1	G	T	3: 108,325,720	K203N	probably benign	Het
Sugp1	A	T	8: 70,059,819	K239N	possibly damaging	Het
Sult2a8	C	T	7: 14,416,258	R176K	probably benign	Het
Usp34	T	A	11: 23,370,291	N888K	probably damaging	Het
Vmn1r4	A	C	6: 56,957,150	H213P	possibly damaging	Het
Wdr45b	G	T	11: 121,328,813	T303K	probably benign	Het

Other mutations in Fubp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01402:Fubp3	APN	2	31604721	splice site	probably null
IGL01583:Fubp3	APN	2	31611743	unclassified	probably benign
IGL02709:Fubp3	APN	2	31595331	splice site	probably benign
R0140:Fubp3	UTSW	2	31608184	missense	probably damaging	1.00
R0555:Fubp3	UTSW	2	31608137	missense	probably damaging	0.98
R1303:Fubp3	UTSW	2	31600520	missense	probably damaging	1.00
R1439:Fubp3	UTSW	2	31598551	missense	probably damaging	1.00
R1447:Fubp3	UTSW	2	31600547	missense	probably damaging	0.99
R1789:Fubp3	UTSW	2	31611735	missense	possibly damaging	0.62
R1973:Fubp3	UTSW	2	31603286	missense	probably benign
R2141:Fubp3	UTSW	2	31600557	unclassified	probably benign
R4708:Fubp3	UTSW	2	31608110	missense	probably benign	0.01
R4780:Fubp3	UTSW	2	31583211	missense	probably damaging	0.99
R4836:Fubp3	UTSW	2	31608141	missense	possibly damaging	0.93
R5468:Fubp3	UTSW	2	31603235	missense	probably benign
R5851:Fubp3	UTSW	2	31598610	missense	probably benign
R6778:Fubp3	UTSW	2	31598673	missense	possibly damaging	0.93
R7074:Fubp3	UTSW	2	31595294	missense	probably damaging	1.00
R7170:Fubp3	UTSW	2	31598620	missense	probably benign	0.00
R7317:Fubp3	UTSW	2	31604612	critical splice acceptor site	probably null
R8381:Fubp3	UTSW	2	31592497	critical splice donor site	probably null
X0022:Fubp3	UTSW	2	31583224	missense	probably damaging	1.00

Posted On

2015-04-16