Mutagenetix > Incidental Mutations

Incidental Mutation 'R4793:Fubp1'

368748

Institutional Source

Beutler Lab

Gene Symbol

Fubp1

Ensembl Gene

ENSMUSG00000028034

Gene Name

far upstream element (FUSE) binding protein 1

Synonyms

9530027K12Rik, FBP, Fubp, Fubp4

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4793 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

152210422-152236826 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 152223329 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 135 (Y135N)

Ref Sequence

ENSEMBL: ENSMUSP00000143478 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106121] [ENSMUST00000166984] [ENSMUST00000196062] [ENSMUST00000196429] [ENSMUST00000196695] [ENSMUST00000196739] [ENSMUST00000198227] [ENSMUST00000199876] [ENSMUST00000200452] [ENSMUST00000200524] [ENSMUST00000199202]

Predicted Effect

unknown
Transcript: ENSMUST00000106121
AA Change: Y509N

SMART Domains

Protein: ENSMUSP00000101727
Gene: ENSMUSG00000028034
AA Change: Y509N

Domain	Start	End	E-Value	Type
low complexity region	7	23	N/A	INTRINSIC
PDB:2KXH\|B	24	48	3e-8	PDB
KH	94	164	1.09e-17	SMART
KH	179	251	2.33e-17	SMART
KH	269	339	1.32e-16	SMART
low complexity region	344	366	N/A	INTRINSIC
KH	370	443	1.19e-14	SMART
low complexity region	513	527	N/A	INTRINSIC
low complexity region	530	556	N/A	INTRINSIC
Pfam:DUF1897	571	599	1.3e-7	PFAM
Pfam:DUF1897	600	624	1.3e-9	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000166984
AA Change: Y509N

SMART Domains

Protein: ENSMUSP00000130145
Gene: ENSMUSG00000028034
AA Change: Y509N

Domain	Start	End	E-Value	Type
low complexity region	7	23	N/A	INTRINSIC
PDB:2KXH\|B	24	48	3e-8	PDB
KH	94	164	1.09e-17	SMART
KH	179	251	2.33e-17	SMART
KH	269	339	1.32e-16	SMART
low complexity region	344	366	N/A	INTRINSIC
KH	370	443	1.19e-14	SMART
low complexity region	513	527	N/A	INTRINSIC
low complexity region	530	556	N/A	INTRINSIC
Pfam:DUF1897	570	598	2e-7	PFAM
Pfam:DUF1897	599	631	9.2e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000196062

SMART Domains

Protein: ENSMUSP00000143718
Gene: ENSMUSG00000028034

Domain	Start	End	E-Value	Type
low complexity region	7	23	N/A	INTRINSIC
PDB:2KXH\|B	24	48	5e-10	PDB

Predicted Effect

possibly damaging
Transcript: ENSMUST00000196429
AA Change: Y135N

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000143478
Gene: ENSMUSG00000028034
AA Change: Y135N

Domain	Start	End	E-Value	Type
KH	1	69	1.1e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000196695
AA Change: Y510N

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000143729
Gene: ENSMUSG00000028034
AA Change: Y510N

Domain	Start	End	E-Value	Type
low complexity region	7	23	N/A	INTRINSIC
PDB:2KXH\|B	24	48	3e-8	PDB
KH	95	165	7e-20	SMART
KH	180	252	1.5e-19	SMART
KH	270	340	8.2e-19	SMART
low complexity region	345	367	N/A	INTRINSIC
KH	371	444	7.3e-17	SMART
low complexity region	514	528	N/A	INTRINSIC
low complexity region	531	557	N/A	INTRINSIC
Pfam:DUF1897	572	600	1.1e-4	PFAM
Pfam:DUF1897	601	625	1.1e-6	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000196739
AA Change: Y510N

SMART Domains

Protein: ENSMUSP00000143101
Gene: ENSMUSG00000028034
AA Change: Y510N

Domain	Start	End	E-Value	Type
low complexity region	7	23	N/A	INTRINSIC
PDB:2KXH\|B	24	48	2e-8	PDB
KH	95	165	1.09e-17	SMART
KH	180	252	2.33e-17	SMART
KH	270	340	1.32e-16	SMART
low complexity region	345	367	N/A	INTRINSIC
KH	371	444	1.19e-14	SMART
low complexity region	514	528	N/A	INTRINSIC
low complexity region	531	557	N/A	INTRINSIC
Pfam:DUF1897	568	596	1e-7	PFAM
Pfam:DUF1897	597	629	4.7e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197141

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198046

Predicted Effect

unknown
Transcript: ENSMUST00000198227
AA Change: Y509N

SMART Domains

Protein: ENSMUSP00000143370
Gene: ENSMUSG00000028034
AA Change: Y509N

Domain	Start	End	E-Value	Type
low complexity region	7	23	N/A	INTRINSIC
PDB:2KXH\|B	24	48	2e-8	PDB
KH	94	164	6.9e-20	SMART
KH	179	251	1.5e-19	SMART
KH	269	339	8.1e-19	SMART
low complexity region	344	366	N/A	INTRINSIC
KH	370	443	7.2e-17	SMART

Predicted Effect

silent
Transcript: ENSMUST00000198405

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198539

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199127

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199199

Predicted Effect

unknown
Transcript: ENSMUST00000200056
AA Change: Y3N

Predicted Effect

unknown
Transcript: ENSMUST00000199876
AA Change: Y510N

SMART Domains

Protein: ENSMUSP00000143618
Gene: ENSMUSG00000028034
AA Change: Y510N

Domain	Start	End	E-Value	Type
low complexity region	7	23	N/A	INTRINSIC
PDB:2KXH\|B	24	48	3e-8	PDB
KH	95	165	1.09e-17	SMART
KH	180	252	2.33e-17	SMART
KH	270	340	1.32e-16	SMART
low complexity region	345	367	N/A	INTRINSIC
KH	371	444	1.19e-14	SMART
low complexity region	514	528	N/A	INTRINSIC
low complexity region	531	557	N/A	INTRINSIC
Pfam:DUF1897	572	600	1.5e-7	PFAM
Pfam:DUF1897	601	625	1.5e-9	PFAM
transmembrane domain	654	676	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000200452
AA Change: Y509N

SMART Domains

Protein: ENSMUSP00000143019
Gene: ENSMUSG00000028034
AA Change: Y509N

Domain	Start	End	E-Value	Type
low complexity region	7	23	N/A	INTRINSIC
PDB:2KXH\|B	24	48	3e-8	PDB
KH	94	164	1.09e-17	SMART
KH	179	251	2.33e-17	SMART
KH	269	339	1.32e-16	SMART
low complexity region	344	366	N/A	INTRINSIC
KH	370	443	1.19e-14	SMART
low complexity region	513	527	N/A	INTRINSIC
low complexity region	530	556	N/A	INTRINSIC
Pfam:DUF1897	570	598	2e-7	PFAM
Pfam:DUF1897	599	631	9.2e-13	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000200524
AA Change: Y510N

SMART Domains

Protein: ENSMUSP00000143354
Gene: ENSMUSG00000028034
AA Change: Y510N

Domain	Start	End	E-Value	Type
low complexity region	7	23	N/A	INTRINSIC
PDB:2KXH\|B	24	48	3e-8	PDB
KH	95	165	6.9e-20	SMART
KH	180	252	1.5e-19	SMART
KH	270	340	8.1e-19	SMART
low complexity region	345	367	N/A	INTRINSIC
KH	371	444	7.2e-17	SMART
low complexity region	514	528	N/A	INTRINSIC
low complexity region	531	557	N/A	INTRINSIC
Pfam:DUF1897	571	599	1.5e-4	PFAM
Pfam:DUF1897	600	632	7e-10	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000199918
AA Change: Y11N

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200207

Predicted Effect

probably benign
Transcript: ENSMUST00000199202

SMART Domains

Protein: ENSMUSP00000143204
Gene: ENSMUSG00000028034

Domain	Start	End	E-Value	Type
low complexity region	7	23	N/A	INTRINSIC
PDB:2KXH\|B	24	48	1e-8	PDB
KH	115	185	6.9e-20	SMART
KH	200	272	1.5e-19	SMART

Meta Mutation Damage Score

0.1353

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

100% (91/91)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a single stranded DNA-binding protein that binds to multiple DNA elements, including the far upstream element (FUSE) located upstream of c-myc. Binding to FUSE occurs on the non-coding strand, and is important to the regulation of c-myc in undifferentiated cells. This protein contains three domains, an amphipathic helix N-terminal domain, a DNA-binding central domain, and a C-terminal transactivation domain that contains three tyrosine-rich motifs. The N-terminal domain is thought to repress the activity of the C-terminal domain. This protein is also thought to bind RNA, and contains 3'-5' helicase activity with in vitro activity on both DNA-DNA and RNA-RNA duplexes. Aberrant expression of this gene has been found in malignant tissues, and this gene is important to neural system and lung development. Binding of this protein to viral RNA is thought to play a role in several viral diseases, including hepatitis C and hand, foot and mouth disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit pre- and perinatal lethality, cerebral hyperplasia, pale liver, hypoplastic lungs, spleen, thymus and bone marrow, cardiac hypertrophy, placental distress, small size, and anemia associated with variable, multilineage hematopoietic deficiency. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	A	11: 110,191,718	E1143V	probably benign	Het
Abi2	T	A	1: 60,409,804	M1K	probably null	Het
Acp2	T	C	2: 91,206,789	F205L	probably benign	Het
Adam17	T	C	12: 21,347,395	N219D	probably benign	Het
Aldh2	T	C	5: 121,568,979	S168G	probably damaging	Het
Arhgap15	A	T	2: 44,142,341	E312D	probably damaging	Het
BC017158	A	T	7: 128,288,202		probably benign	Het
Calm5	T	C	13: 3,854,401	S32P	probably benign	Het
Capn12	G	A	7: 28,892,669	D671N	probably benign	Het
Ccdc73	A	G	2: 105,017,782		probably null	Het
Cdc20	T	A	4: 118,437,064	I20F	probably benign	Het
Cdh23	A	T	10: 60,331,350	I1841N	probably damaging	Het
Cftr	T	C	6: 18,226,088	V345A	probably damaging	Het
Col15a1	T	C	4: 47,262,997	S550P	possibly damaging	Het
Col4a4	A	G	1: 82,539,099	Y133H	unknown	Het
Csmd1	A	G	8: 16,088,263	S1592P	probably damaging	Het
Cts6	T	A	13: 61,201,812	M56L	probably benign	Het
Cybb	C	G	X: 9,450,750	D246H	probably benign	Het
Diexf	T	A	1: 193,113,808	Q50L	probably null	Het
Dock5	A	G	14: 67,800,354	S947P	probably benign	Het
Dpysl2	G	T	14: 66,815,049	A339D	possibly damaging	Het
Ebf2	A	G	14: 67,410,082	D360G	probably damaging	Het
Ensa	T	C	3: 95,625,178		probably null	Het
Fap	C	A	2: 62,544,369	V229F	probably damaging	Het
Fbn1	C	A	2: 125,321,235	G2116*	probably null	Het
Frmd4b	A	T	6: 97,295,861	S857T	probably damaging	Het
Fsip2	T	A	2: 82,987,700	Y4592*	probably null	Het
Gdap2	T	C	3: 100,170,918	L66P	probably damaging	Het
Gm10257	T	C	13: 100,946,797		noncoding transcript	Het
Gm1758	A	T	16: 14,507,172		noncoding transcript	Het
Gna13	T	C	11: 109,363,629		probably benign	Het
Heatr1	T	C	13: 12,431,837	I1689T	probably benign	Het
Hephl1	A	G	9: 15,097,990	I102T	probably benign	Het
Hist1h2bl	T	C	13: 21,715,918	S76G	probably benign	Het
Hltf	T	G	3: 20,063,950	Y121D	possibly damaging	Het
Hspg2	T	C	4: 137,529,473	V1509A	possibly damaging	Het
Ifitm5	G	T	7: 140,950,164	R16S	probably benign	Het
Il1rap	A	C	16: 26,695,234	D239A	probably benign	Het
Kalrn	C	T	16: 33,989,810	D2525N	possibly damaging	Het
Kcna6	T	C	6: 126,738,556	I457V	probably damaging	Het
Kctd17	T	A	15: 78,433,024	L47Q	probably damaging	Het
Kdm1b	C	T	13: 47,063,077	R308W	probably damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lrrc63	A	G	14: 75,126,161	S177P	possibly damaging	Het
Lrriq1	T	C	10: 103,170,466	D1266G	probably benign	Het
Map3k2	G	T	18: 32,228,150	M554I	probably damaging	Het
Mettl7a3	A	G	15: 100,335,008	M27V	probably benign	Het
Mst1r	T	A	9: 107,919,925	V1331E	probably damaging	Het
Musk	T	C	4: 58,373,400	I775T	probably damaging	Het
Mybl2	A	G	2: 163,074,763	K7E	probably damaging	Het
Nf1	T	C	11: 79,447,572	S1137P	probably damaging	Het
Nlrp5	A	G	7: 23,417,630	I260V	probably damaging	Het
Olfr1006	A	C	2: 85,674,498	Y218D	probably damaging	Het
Olfr1413	G	T	1: 92,573,485	A105S	possibly damaging	Het
Olfr155	A	T	4: 43,854,323	N5Y	probably benign	Het
Pabpc1l	C	T	2: 164,027,622	A114V	possibly damaging	Het
Plac8l1	T	A	18: 42,178,908	I149F	possibly damaging	Het
Pou6f1	T	A	15: 100,578,412	N531I	probably damaging	Het
Prdm10	A	G	9: 31,353,405	Y712C	probably damaging	Het
Ptbp3	T	C	4: 59,514,297	T43A	possibly damaging	Het
Ptpn13	T	C	5: 103,582,778		probably null	Het
Rnf135	T	C	11: 80,196,949		probably null	Het
Serpinb3d	A	G	1: 107,078,221	L379P	probably damaging	Het
Sh2d6	T	A	6: 72,517,598	T124S	probably benign	Het
Slc26a5	G	A	5: 21,837,994	P153S	probably damaging	Het
Slc5a7	A	G	17: 54,281,794	F275S	possibly damaging	Het
Snx14	A	G	9: 88,394,442	S606P	probably damaging	Het
Sphkap	A	T	1: 83,278,084	I648K	possibly damaging	Het
Spon2	T	C	5: 33,214,560	T301A	probably damaging	Het
Srpr	C	T	9: 35,213,151	T48I	probably benign	Het
Taar9	G	A	10: 24,109,510	P9S	probably benign	Het
Tacc1	A	T	8: 25,182,389	S274R	possibly damaging	Het
Tc2n	A	G	12: 101,651,117	S348P	possibly damaging	Het
Timd2	G	T	11: 46,687,181	T41K	probably damaging	Het
Tmem132a	T	A	19: 10,865,493	E206V	probably damaging	Het
Tpi1	A	T	6: 124,812,581		probably benign	Het
Traf5	T	G	1: 191,997,804	T429P	probably benign	Het
Trav4-3	A	G	14: 53,599,158	S27G	possibly damaging	Het
Tubd1	T	C	11: 86,567,069	M462T	probably benign	Het
Ube4a	T	C	9: 44,948,822	D314G	probably damaging	Het
Vmn2r58	G	T	7: 41,865,071	T158K	probably damaging	Het
Vmn2r68	C	A	7: 85,234,440	M152I	probably benign	Het
Vmn2r91	A	G	17: 18,105,396	E92G	probably damaging	Het
Wdr20rt	T	C	12: 65,226,621	V113A	probably damaging	Het
Zfp729a	T	C	13: 67,620,427	H561R	probably damaging	Het
Zfp804a	T	A	2: 82,235,842	D52E	probably damaging	Het

Other mutations in Fubp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01083:Fubp1	APN	3	152222234	missense	probably damaging	0.97
IGL01328:Fubp1	APN	3	152220218	missense	probably damaging	1.00
IGL01583:Fubp1	APN	3	152215624	missense	possibly damaging	0.71
IGL02886:Fubp1	APN	3	152220755	missense	possibly damaging	0.90
R0166:Fubp1	UTSW	3	152220204	nonsense	probably null
R0268:Fubp1	UTSW	3	152219713	missense	probably damaging	0.99
R0344:Fubp1	UTSW	3	152219713	missense	probably damaging	0.99
R0759:Fubp1	UTSW	3	152210637	small insertion	probably benign
R1159:Fubp1	UTSW	3	152215592	missense	possibly damaging	0.93
R1194:Fubp1	UTSW	3	152231969	frame shift	probably null
R1687:Fubp1	UTSW	3	152228201	unclassified	probably benign
R1818:Fubp1	UTSW	3	152222169	missense	probably damaging	1.00
R3880:Fubp1	UTSW	3	152220496	missense	probably damaging	1.00
R4247:Fubp1	UTSW	3	152231936	missense	possibly damaging	0.92
R4564:Fubp1	UTSW	3	152222936	nonsense	probably null
R4776:Fubp1	UTSW	3	152222068	splice site	probably null
R4825:Fubp1	UTSW	3	152217890	splice site	probably null
R5035:Fubp1	UTSW	3	152214851	missense	probably benign	0.01
R5167:Fubp1	UTSW	3	152221352	missense	possibly damaging	0.67
R5819:Fubp1	UTSW	3	152220553	missense	probably damaging	1.00
R5892:Fubp1	UTSW	3	152218314	intron	probably benign
R6254:Fubp1	UTSW	3	152232408	missense	possibly damaging	0.66
R6814:Fubp1	UTSW	3	152226146	missense	probably benign	0.33
R6872:Fubp1	UTSW	3	152226146	missense	probably benign	0.33
R7132:Fubp1	UTSW	3	152232024	critical splice donor site	probably null
R7612:Fubp1	UTSW	3	152218015	missense	possibly damaging	0.66
R7876:Fubp1	UTSW	3	152232291	missense	unknown
R7903:Fubp1	UTSW	3	152214861	nonsense	probably null
R7969:Fubp1	UTSW	3	152222246	critical splice donor site	probably null
R8201:Fubp1	UTSW	3	152222186	missense	probably damaging	1.00
R8219:Fubp1	UTSW	3	152220466	missense	probably damaging	1.00
R8262:Fubp1	UTSW	3	152220719	missense	probably damaging	1.00
R8434:Fubp1	UTSW	3	152220553	missense	probably damaging	1.00
Z1176:Fubp1	UTSW	3	152222087	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCTTTCCCTAAAGACCTAGGAATTG -3'
(R):5'- GTCACAACATACTAGACAGCAGTG -3'

Sequencing Primer
(F):5'- CAGGGTATCTTTACAGCGACACTAG -3'
(R):5'- CAGTGTCATCCTATACTGCAGGG -3'

Posted On

2016-02-04