Mutagenetix > Incidental Mutations

Incidental Mutation 'R6254:Fubp1'

505961

Institutional Source

Beutler Lab

Gene Symbol

Fubp1

Ensembl Gene

ENSMUSG00000028034

Gene Name

far upstream element (FUSE) binding protein 1

Synonyms

9530027K12Rik, FBP, Fubp, Fubp4

MMRRC Submission

044371-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6254 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

152210422-152236826 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 152232408 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 140 (K140E)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046045] [ENSMUST00000106121] [ENSMUST00000166984] [ENSMUST00000196695] [ENSMUST00000196739] [ENSMUST00000199470] [ENSMUST00000199876] [ENSMUST00000200452] [ENSMUST00000200524]

Predicted Effect

probably benign
Transcript: ENSMUST00000046045

SMART Domains

Protein: ENSMUSP00000037120
Gene: ENSMUSG00000039103

Domain	Start	End	E-Value	Type
coiled coil region	40	92	N/A	INTRINSIC
coiled coil region	176	358	N/A	INTRINSIC
coiled coil region	391	419	N/A	INTRINSIC
low complexity region	452	470	N/A	INTRINSIC
low complexity region	487	493	N/A	INTRINSIC
IG	519	603	4.82e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106121

SMART Domains

Protein: ENSMUSP00000101727
Gene: ENSMUSG00000028034

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

probably benign
Transcript: ENSMUST00000166984

SMART Domains

Protein: ENSMUSP00000130145
Gene: ENSMUSG00000028034

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: ENSMUST00000196695

SMART Domains

Protein: ENSMUSP00000143729
Gene: ENSMUSG00000028034

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

probably benign
Transcript: ENSMUST00000196739

SMART Domains

Protein: ENSMUSP00000143101
Gene: ENSMUSG00000028034

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

possibly damaging
Transcript: ENSMUST00000198405
AA Change: K140E

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198539

Predicted Effect

probably benign
Transcript: ENSMUST00000199470

SMART Domains

Protein: ENSMUSP00000143133
Gene: ENSMUSG00000039103

Domain	Start	End	E-Value	Type
internal_repeat_1	14	35	5.77e-6	PROSPERO
low complexity region	36	53	N/A	INTRINSIC
internal_repeat_1	86	106	5.77e-6	PROSPERO
low complexity region	108	131	N/A	INTRINSIC
low complexity region	176	210	N/A	INTRINSIC
low complexity region	248	259	N/A	INTRINSIC
coiled coil region	321	349	N/A	INTRINSIC
coiled coil region	372	423	N/A	INTRINSIC
IG	449	533	2e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000199876

SMART Domains

Protein: ENSMUSP00000143618
Gene: ENSMUSG00000028034

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

probably benign
Transcript: ENSMUST00000199918

Predicted Effect

probably benign
Transcript: ENSMUST00000200452

SMART Domains

Protein: ENSMUSP00000143019
Gene: ENSMUSG00000028034

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: ENSMUST00000200524

SMART Domains

Protein: ENSMUSP00000143354
Gene: ENSMUSG00000028034

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

probably benign
Transcript: ENSMUST00000200056

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200207

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.4%

Validation Efficiency

100% (82/82)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932443I19Rik	A	G	8: 13,706,043	D26G	possibly damaging	Het
Adam6b	A	T	12: 113,489,570	L2F	probably damaging	Het
Ank2	T	A	3: 126,941,804		probably benign	Het
Anpep	T	G	7: 79,839,233	D369A	probably damaging	Het
App	T	C	16: 84,978,177	E599G	probably damaging	Het
Asphd1	C	T	7: 126,948,868	V88I	probably benign	Het
Atad5	A	T	11: 80,127,389	I1389F	probably damaging	Het
Blm	T	C	7: 80,480,342	N950S	probably benign	Het
Bsn	A	T	9: 108,111,866	M2229K	probably damaging	Het
Cacna2d2	A	G	9: 107,509,216	M181V	probably benign	Het
Cadps2	T	A	6: 23,329,163		probably null	Het
Cdh1	T	A	8: 106,663,798	V590D	probably damaging	Het
Cdk5rap2	G	A	4: 70,364,032	T160M	probably damaging	Het
Chrna5	A	G	9: 55,006,456	M325V	probably benign	Het
Clca3a2	A	G	3: 144,802,134	I116T	probably benign	Het
Cyp2c23	T	C	19: 44,005,463	K488R	probably benign	Het
Edil3	T	A	13: 89,319,729	I451N	probably damaging	Het
Exph5	T	G	9: 53,372,710	S364A	possibly damaging	Het
Fam84b	A	G	15: 60,823,801	I32T	probably damaging	Het
Fam98c	A	G	7: 29,154,517	S209P	probably damaging	Het
Fat3	G	A	9: 15,996,145	L2854F	probably benign	Het
Fbxo38	T	C	18: 62,505,500		probably null	Het
Fermt2	T	C	14: 45,476,059	D205G	probably damaging	Het
Fmnl1	G	A	11: 103,196,315		probably benign	Het
Fn3k	A	G	11: 121,435,068	E27G	probably damaging	Het
Foxj2	A	G	6: 122,838,139	H378R	probably damaging	Het
Gm4788	A	G	1: 139,754,390	I156T	probably damaging	Het
Gm7694	A	T	1: 170,302,534	C98*	probably null	Het
Golgb1	T	C	16: 36,913,978	S1196P	probably damaging	Het
Gpm6a	G	A	8: 55,047,396		probably null	Het
Hltf	T	A	3: 20,063,829	N80K	possibly damaging	Het
Il1rap	G	A	16: 26,695,270	R251H	probably benign	Het
Ipo7	T	A	7: 110,049,060	D688E	probably benign	Het
Itgal	T	A	7: 127,325,203	N897K	probably damaging	Het
Itsn2	A	G	12: 4,624,982		probably null	Het
Kcnk13	A	G	12: 99,965,372		probably benign	Het
Kdm7a	A	G	6: 39,170,269	L248P	probably damaging	Het
Kmt2c	T	C	5: 25,349,874	E1254G	possibly damaging	Het
Ldah	G	A	12: 8,275,912		probably benign	Het
Lingo1	T	A	9: 56,620,087	D406V	possibly damaging	Het
Lrriq1	A	T	10: 103,215,451	V480E	probably benign	Het
Mtcl1	C	T	17: 66,358,134	R1142H	probably benign	Het
Mtmr3	G	A	11: 4,497,381	Q360*	probably null	Het
Muc6	T	C	7: 141,651,115	N252S	probably benign	Het
Naa20	T	C	2: 145,903,320	L4P	probably damaging	Het
Neb	T	A	2: 52,222,961	I4274L	probably benign	Het
Noa1	A	T	5: 77,309,669	F130I	probably benign	Het
Nrg4	G	T	9: 55,236,512	H87N	possibly damaging	Het
Olfr1024	T	A	2: 85,904,505	Y183F	probably damaging	Het
Olfr632	T	A	7: 103,937,534	H51Q	probably benign	Het
P3h3	C	T	6: 124,845,601	E536K	probably damaging	Het
Pcdhb11	T	C	18: 37,421,718	S34P	probably damaging	Het
Pik3r1	T	C	13: 101,689,406	T71A	possibly damaging	Het
Plaur	T	A	7: 24,466,800	C99S	possibly damaging	Het
Plekha5	G	A	6: 140,586,436	G501E	probably damaging	Het
Plxnd1	C	T	6: 115,977,960	V614M	probably benign	Het
Ppp2r3a	T	C	9: 101,148,587	D307G	possibly damaging	Het
Prl3d3	C	T	13: 27,157,470	S28F	possibly damaging	Het
Prpf40a	T	C	2: 53,157,915	M197V	probably benign	Het
Ptk7	C	A	17: 46,572,642	Q832H	probably damaging	Het
Qser1	T	C	2: 104,790,090	S126G	probably benign	Het
Rab3ip	A	T	10: 116,915,867	C332S	probably damaging	Het
Raly	C	A	2: 154,857,366	T30K	probably damaging	Het
Rbp2	G	T	9: 98,490,647	S13I	probably benign	Het
Rps6ka1	C	T	4: 133,867,224	M159I	possibly damaging	Het
Rufy3	C	T	5: 88,584,309	T57I	probably benign	Het
Samd4	A	G	14: 47,016,631	D184G	probably damaging	Het
Slc35f3	T	C	8: 126,321,094	C58R	possibly damaging	Het
Smarca4	T	C	9: 21,699,877	I1467T	probably damaging	Het
Spag17	T	G	3: 100,065,585	I1371S	probably benign	Het
Sptan1	T	C	2: 30,007,549	L1228P	possibly damaging	Het
Stk31	C	T	6: 49,421,697	A344V	probably benign	Het
Supt16	A	G	14: 52,170,834	W885R	probably damaging	Het
Tdrd9	T	A	12: 112,025,900		probably null	Het
Tmod1	A	G	4: 46,078,469		probably null	Het
Tnfsf13	A	C	11: 69,684,483		probably null	Het
Trim75	C	A	8: 64,983,442	E119*	probably null	Het
Wdr6	T	C	9: 108,574,911	Y591C	probably damaging	Het
Wdr86	C	T	5: 24,718,283	R137H	probably benign	Het
Ythdf1	T	A	2: 180,911,150	Y424F	probably damaging	Het
Zfp984	G	T	4: 147,756,186	S69R	possibly damaging	Het
Zyg11a	A	G	4: 108,181,794	F743L	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
R4793:Fubp1	UTSW	3	152223329	missense	possibly damaging	0.86
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
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'- ATAATGTTTTCTGGCATCTGAGTGC -3'
(R):5'- AAGCATCGACCACATAATAGTTGC -3'

Sequencing Primer
(F):5'- CATCTGAGTGCTATTTTTGTAATGCC -3'
(R):5'- CATTTGCTGGAATGTGTACATCTAC -3'

Posted On

2018-02-28