Mutagenetix > Incidental Mutation

Incidental Mutation 'R8859:Fubp1'

711120

Institutional Source

Beutler Lab

Gene Symbol

Fubp1

Ensembl Gene

ENSMUSG00000028034

Gene Name

far upstream element (FUSE) binding protein 1

Synonyms

9530027K12Rik, Fubp4, Fubp, FBP

MMRRC Submission

068739-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8859 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

151916059-151942463 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 151937669 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143354 (fasta)

Gene Model

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

AlphaFold

Q91WJ8

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

probably benign
Transcript: ENSMUST00000198405

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

unknown
Transcript: ENSMUST00000199876
AA Change: I645F

SMART Domains

Protein: ENSMUSP00000143618
Gene: ENSMUSG00000028034
AA Change: I645F

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: ENSMUST00000200056

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (95/96)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,328,397 (GRCm39)	Y3490F		Het
Abcc1	T	C	16: 14,214,225 (GRCm39)	V167A	probably benign	Het
Abcd2	G	A	15: 91,073,149 (GRCm39)	R337C	probably damaging	Het
Adcy1	A	G	11: 7,111,877 (GRCm39)	D914G	probably benign	Het
Ahnak	G	T	19: 8,984,567 (GRCm39)	L1950F	probably damaging	Het
Alox5ap	T	C	5: 149,201,994 (GRCm39)		probably null	Het
Ank	C	T	15: 27,562,834 (GRCm39)	H181Y	possibly damaging	Het
Ankrd44	T	A	1: 54,706,680 (GRCm39)	D592V	possibly damaging	Het
Ap4m1	T	A	5: 138,174,185 (GRCm39)	N185K	possibly damaging	Het
Arhgef28	T	A	13: 98,082,210 (GRCm39)	D1199V	probably damaging	Het
Arnt	T	C	3: 95,397,691 (GRCm39)		probably null	Het
Atcay	C	T	10: 81,060,298 (GRCm39)	V13M	probably benign	Het
B4galt3	T	C	1: 171,099,241 (GRCm39)	S2P	unknown	Het
Bicra	A	T	7: 15,721,737 (GRCm39)	S593R	possibly damaging	Het
Brsk2	A	C	7: 141,552,415 (GRCm39)	Q633P	probably damaging	Het
Cacna1c	T	A	6: 118,653,280 (GRCm39)	S909C		Het
Ccdc7a	G	A	8: 129,788,113 (GRCm39)	T72M	probably benign	Het
Ccn1	T	C	3: 145,354,380 (GRCm39)	D177G	probably benign	Het
Cct2	A	T	10: 116,896,739 (GRCm39)	F155I	possibly damaging	Het
Cdv3	G	T	9: 103,233,594 (GRCm39)	P194T	probably damaging	Het
Cenpc1	A	T	5: 86,160,153 (GRCm39)	V895E	probably benign	Het
Cep170b	T	C	12: 112,702,881 (GRCm39)	V448A	probably benign	Het
Chil3	G	A	3: 106,071,440 (GRCm39)	R75C	possibly damaging	Het
Cnfn	A	T	7: 25,067,869 (GRCm39)	C24S	probably benign	Het
Cnga3	A	G	1: 37,299,852 (GRCm39)	K191E	possibly damaging	Het
Col12a1	A	T	9: 79,587,681 (GRCm39)	Y1153*	probably null	Het
Coq4	C	A	2: 29,685,491 (GRCm39)	H168Q	probably damaging	Het
Dennd2b	T	A	7: 109,123,863 (GRCm39)	K1132M	probably damaging	Het
Dnajc14	G	A	10: 128,642,488 (GRCm39)	V137I	probably benign	Het
Efr3a	T	C	15: 65,726,614 (GRCm39)	L569P	probably damaging	Het
Epb41l3	A	T	17: 69,591,575 (GRCm39)	E677D	probably benign	Het
Esp8	G	A	17: 40,841,013 (GRCm39)	M91I	unknown	Het
Gldc	G	T	19: 30,116,779 (GRCm39)	A391D	probably damaging	Het
Gm17728	A	G	17: 9,641,027 (GRCm39)	T46A	probably benign	Het
Gm5798	A	G	14: 41,072,603 (GRCm39)	K112E	probably damaging	Het
Gpnmb	A	G	6: 49,028,964 (GRCm39)		probably benign	Het
Grwd1	T	C	7: 45,475,298 (GRCm39)	T415A	probably benign	Het
Gsdma3	C	G	11: 98,522,086 (GRCm39)	A172G	possibly damaging	Het
Hltf	C	T	3: 20,119,566 (GRCm39)	Q204*	probably null	Het
Igf1r	T	G	7: 67,833,211 (GRCm39)	V457G	possibly damaging	Het
Inhbc	A	T	10: 127,192,984 (GRCm39)	M344K	probably damaging	Het
Jak3	C	T	8: 72,131,160 (GRCm39)	A60V	probably benign	Het
Kif13b	A	G	14: 64,979,882 (GRCm39)	T511A	probably benign	Het
Lama2	T	A	10: 27,335,384 (GRCm39)	N97I	possibly damaging	Het
Limd2	T	A	11: 106,049,576 (GRCm39)	D104V	probably damaging	Het
Loxl3	T	A	6: 83,014,526 (GRCm39)	C145S	probably damaging	Het
Lrrc37	A	C	11: 103,506,370 (GRCm39)	I1866S	unknown	Het
Lrrc73	A	G	17: 46,565,455 (GRCm39)	N62S	probably benign	Het
Lrrtm4	A	G	6: 79,998,870 (GRCm39)	D94G	probably damaging	Het
Lsm3	C	A	6: 91,499,252 (GRCm39)	F86L	probably damaging	Het
Map10	T	C	8: 126,397,291 (GRCm39)	V228A	probably benign	Het
Mcidas	A	C	13: 113,130,664 (GRCm39)	S54R	possibly damaging	Het
Me3	T	C	7: 89,455,876 (GRCm39)	Y243H	probably damaging	Het
Mgat4b	A	G	11: 50,121,674 (GRCm39)	T89A	possibly damaging	Het
Mmp16	T	A	4: 18,054,355 (GRCm39)		probably benign	Het
Mtmr9	G	A	14: 63,781,226 (GRCm39)		probably benign	Het
Myo1b	G	T	1: 51,836,198 (GRCm39)	A331E	probably damaging	Het
Ncoa6	C	T	2: 155,248,388 (GRCm39)	V1639M	possibly damaging	Het
Nek9	C	T	12: 85,353,120 (GRCm39)	G752R	probably damaging	Het
Nufip2	A	G	11: 77,584,069 (GRCm39)	Y661C	probably benign	Het
Or10w1	T	A	19: 13,632,246 (GRCm39)	V151E	probably damaging	Het
Or1n2	C	T	2: 36,797,516 (GRCm39)	A186V	possibly damaging	Het
Or51t4	A	T	7: 102,598,373 (GRCm39)	I234F	probably damaging	Het
Or7g16	T	C	9: 18,726,992 (GRCm39)	I199M	possibly damaging	Het
Or8g55	G	A	9: 39,784,894 (GRCm39)	G108S	probably benign	Het
Oxct2a	A	G	4: 123,216,322 (GRCm39)	L353S	probably benign	Het
Parvg	A	G	15: 84,222,001 (GRCm39)	I243V	probably benign	Het
Pcdhgb7	C	A	18: 37,886,349 (GRCm39)	N506K	possibly damaging	Het
Peg10	T	TCCA	6: 4,756,451 (GRCm39)		probably benign	Het
Pgghg	G	A	7: 140,525,367 (GRCm39)		probably null	Het
Phrf1	G	T	7: 140,836,516 (GRCm39)	G263W	unknown	Het
Ppfia1	A	C	7: 144,032,762 (GRCm39)		probably null	Het
Prss37	T	A	6: 40,491,897 (GRCm39)	I228F	probably damaging	Het
Ptpro	A	T	6: 137,403,782 (GRCm39)	K921*	probably null	Het
Rictor	T	G	15: 6,813,067 (GRCm39)	L940R	probably damaging	Het
Rp1	A	G	1: 4,420,183 (GRCm39)	S310P	probably benign	Het
Ryr3	A	G	2: 112,483,564 (GRCm39)	V4091A	probably damaging	Het
Saxo4	T	A	19: 10,459,599 (GRCm39)	Y36F	probably damaging	Het
Sirt5	T	A	13: 43,524,327 (GRCm39)	M33K	possibly damaging	Het
Slc25a30	T	A	14: 76,008,917 (GRCm39)	Y90F	probably benign	Het
Stimate	T	A	14: 30,588,629 (GRCm39)	Y119N	probably damaging	Het
Stk11	G	A	10: 79,964,269 (GRCm39)	D388N	probably benign	Het
Tgm1	C	A	14: 55,949,686 (GRCm39)	R126L	probably benign	Het
Tmem129	G	T	5: 33,811,837 (GRCm39)	T321N	probably benign	Het
Tnfrsf11a	A	T	1: 105,772,244 (GRCm39)		probably null	Het
Tor1aip1	A	G	1: 155,907,190 (GRCm39)	C195R	probably benign	Het
Tpr	A	G	1: 150,284,597 (GRCm39)	E428G	possibly damaging	Het
Trps1	T	A	15: 50,685,769 (GRCm39)	D802V	possibly damaging	Het
Usp17lc	T	A	7: 103,064,316 (GRCm39)	S6T	probably benign	Het
Vangl1	C	A	3: 102,065,758 (GRCm39)	R459L		Het
Vmn1r43	T	C	6: 89,846,937 (GRCm39)	Y183C	probably damaging	Het
Vmn2r110	C	T	17: 20,794,560 (GRCm39)	C703Y	probably damaging	Het
Vmn2r54	T	C	7: 12,363,702 (GRCm39)	Q397R	possibly damaging	Het
Vmn2r88	T	C	14: 51,656,263 (GRCm39)	V824A	probably damaging	Het
Vmn2r89	A	T	14: 51,693,170 (GRCm39)	Y79F	probably benign	Het
Vnn1	T	C	10: 23,780,484 (GRCm39)	S491P	probably benign	Het
Zbbx	A	G	3: 74,968,741 (GRCm39)	F572L	unknown	Het
Zc3h4	A	T	7: 16,168,939 (GRCm39)	Q1091L	unknown	Het
Zfp503	C	T	14: 22,037,286 (GRCm39)	V106I	possibly damaging	Het
Zfp874a	T	C	13: 67,590,647 (GRCm39)	T346A	probably benign	Het

Other mutations in Fubp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01083:Fubp1	APN	3	151,927,871 (GRCm39)	missense	probably damaging	0.97
IGL01328:Fubp1	APN	3	151,925,855 (GRCm39)	missense	probably damaging	1.00
IGL01583:Fubp1	APN	3	151,921,261 (GRCm39)	missense	possibly damaging	0.71
IGL02886:Fubp1	APN	3	151,926,392 (GRCm39)	missense	possibly damaging	0.90
R0166:Fubp1	UTSW	3	151,925,841 (GRCm39)	nonsense	probably null
R0268:Fubp1	UTSW	3	151,925,350 (GRCm39)	missense	probably damaging	0.99
R0344:Fubp1	UTSW	3	151,925,350 (GRCm39)	missense	probably damaging	0.99
R0759:Fubp1	UTSW	3	151,916,274 (GRCm39)	small insertion	probably benign
R1159:Fubp1	UTSW	3	151,921,229 (GRCm39)	missense	possibly damaging	0.93
R1194:Fubp1	UTSW	3	151,937,606 (GRCm39)	frame shift	probably null
R1687:Fubp1	UTSW	3	151,933,838 (GRCm39)	unclassified	probably benign
R1818:Fubp1	UTSW	3	151,927,806 (GRCm39)	missense	probably damaging	1.00
R3880:Fubp1	UTSW	3	151,926,133 (GRCm39)	missense	probably damaging	1.00
R4247:Fubp1	UTSW	3	151,937,573 (GRCm39)	missense	possibly damaging	0.92
R4564:Fubp1	UTSW	3	151,928,573 (GRCm39)	nonsense	probably null
R4776:Fubp1	UTSW	3	151,927,705 (GRCm39)	splice site	probably null
R4793:Fubp1	UTSW	3	151,928,966 (GRCm39)	missense	possibly damaging	0.86
R4825:Fubp1	UTSW	3	151,923,527 (GRCm39)	splice site	probably null
R5035:Fubp1	UTSW	3	151,920,488 (GRCm39)	missense	probably benign	0.01
R5167:Fubp1	UTSW	3	151,926,989 (GRCm39)	missense	possibly damaging	0.67
R5819:Fubp1	UTSW	3	151,926,190 (GRCm39)	missense	probably damaging	1.00
R5892:Fubp1	UTSW	3	151,923,951 (GRCm39)	intron	probably benign
R6254:Fubp1	UTSW	3	151,938,045 (GRCm39)	missense	possibly damaging	0.66
R6814:Fubp1	UTSW	3	151,931,783 (GRCm39)	missense	probably benign	0.33
R6872:Fubp1	UTSW	3	151,931,783 (GRCm39)	missense	probably benign	0.33
R7132:Fubp1	UTSW	3	151,937,661 (GRCm39)	critical splice donor site	probably null
R7612:Fubp1	UTSW	3	151,923,652 (GRCm39)	missense	possibly damaging	0.66
R7876:Fubp1	UTSW	3	151,937,928 (GRCm39)	missense	unknown
R7903:Fubp1	UTSW	3	151,920,498 (GRCm39)	nonsense	probably null
R7969:Fubp1	UTSW	3	151,927,883 (GRCm39)	critical splice donor site	probably null
R8201:Fubp1	UTSW	3	151,927,823 (GRCm39)	missense	probably damaging	1.00
R8219:Fubp1	UTSW	3	151,926,103 (GRCm39)	missense	probably damaging	1.00
R8262:Fubp1	UTSW	3	151,926,356 (GRCm39)	missense	probably damaging	1.00
R8434:Fubp1	UTSW	3	151,926,190 (GRCm39)	missense	probably damaging	1.00
R9186:Fubp1	UTSW	3	151,926,153 (GRCm39)	missense	probably damaging	0.96
R9217:Fubp1	UTSW	3	151,923,873 (GRCm39)	missense	probably benign	0.00
R9239:Fubp1	UTSW	3	151,923,486 (GRCm39)	missense	probably damaging	1.00
R9725:Fubp1	UTSW	3	151,927,823 (GRCm39)	missense	probably damaging	1.00
Z1176:Fubp1	UTSW	3	151,927,724 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGTTTTCCTGAAGGTCAAGC -3'
(R):5'- TGATTTGCAAATCCCTGGGG -3'

Sequencing Primer
(F):5'- TCCTGAAGGTCAAGCAGTTC -3'
(R):5'- GGCATTACAAAAATAGCACTCAGATG -3'

Posted On

2022-05-05