Mutagenetix > Incidental Mutation

Incidental Mutation 'R7170:Fubp3'

558166

Institutional Source

Beutler Lab

Gene Symbol

Fubp3

Ensembl Gene

ENSMUSG00000026843

Gene Name

far upstream element (FUSE) binding protein 3

Synonyms

A330051M14Rik, Marta2, FBP3

MMRRC Submission

045332-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.329) question?

Stock #

R7170 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31462663-31507538 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31488632 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 163 (T163A)

Ref Sequence

ENSEMBL: ENSMUSP00000053474 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055244] [ENSMUST00000113482] [ENSMUST00000134553] [ENSMUST00000137889] [ENSMUST00000154050] [ENSMUST00000194386]

AlphaFold

Q3TIX6

Predicted Effect

probably benign
Transcript: ENSMUST00000055244
AA Change: T163A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000053474
Gene: ENSMUSG00000026843
AA Change: T163A

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
AA Change: T163A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000109110
Gene: ENSMUSG00000026843
AA Change: T163A

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: 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: ENSMUST00000137889

SMART Domains

Protein: ENSMUSP00000120241
Gene: ENSMUSG00000026843

Domain	Start	End	E-Value	Type
PDB:4LIJ\|C	63	97	3e-9	PDB
Blast:KH	75	97	8e-8	BLAST
SCOP:d1vig__	76	97	1e-3	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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (81/81)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	C	11: 109,836,654 (GRCm39)	T1214A	probably benign	Het
Acte1	T	C	7: 143,450,102 (GRCm39)	S285P	probably damaging	Het
Adgrf5	G	A	17: 43,757,029 (GRCm39)	V708M	possibly damaging	Het
Akap9	C	G	5: 4,018,745 (GRCm39)	H1109D	probably benign	Het
Ankrd7	T	A	6: 18,868,389 (GRCm39)	Y170*	probably null	Het
Aplp2	T	C	9: 31,081,739 (GRCm39)	D236G	probably benign	Het
Apoa5	T	C	9: 46,181,437 (GRCm39)	M171T	probably benign	Het
Bcas3	T	C	11: 85,386,744 (GRCm39)	V393A	probably damaging	Het
Ccdc47	T	C	11: 106,093,304 (GRCm39)	N370S	probably benign	Het
Cfap77	A	T	2: 28,875,854 (GRCm39)	Y85*	probably null	Het
Col4a3	G	A	1: 82,693,630 (GRCm39)		probably null	Het
Crnn	T	A	3: 93,056,020 (GRCm39)	S269T	possibly damaging	Het
Crocc2	G	A	1: 93,121,704 (GRCm39)	A618T	possibly damaging	Het
D030056L22Rik	A	G	19: 18,690,737 (GRCm39)	K17R	possibly damaging	Het
Emx1	G	A	6: 85,164,983 (GRCm39)	G20D	probably benign	Het
Fabp3	A	G	4: 130,207,763 (GRCm39)	D88G	probably benign	Het
Fam124a	A	C	14: 62,824,629 (GRCm39)	D41A	probably damaging	Het
Fanca	T	C	8: 123,997,945 (GRCm39)	E1247G	probably damaging	Het
Fat3	T	C	9: 15,917,870 (GRCm39)	R1518G	probably damaging	Het
Fgf12	T	C	16: 28,263,931 (GRCm39)	I5V	probably benign	Het
Fscn2	C	A	11: 120,253,335 (GRCm39)	N267K	probably damaging	Het
Ftdc1	G	T	16: 58,436,091 (GRCm39)	C77*	probably null	Het
Gask1a	G	T	9: 121,807,301 (GRCm39)	A482S	probably damaging	Het
Gne	A	G	4: 44,040,361 (GRCm39)	L601P	possibly damaging	Het
Gphn	T	C	12: 78,730,663 (GRCm39)	V766A	possibly damaging	Het
Hsf1	G	T	15: 76,384,221 (GRCm39)	G402C	probably damaging	Het
Ift81	A	T	5: 122,693,596 (GRCm39)	Y604*	probably null	Het
Iqgap3	T	A	3: 88,009,370 (GRCm39)	I768N	probably damaging	Het
Kazald1	A	T	19: 45,066,855 (GRCm39)	D218V	probably benign	Het
Kmt2a	T	C	9: 44,722,018 (GRCm39)	N3776D	unknown	Het
Ktn1	T	C	14: 47,943,867 (GRCm39)	L872S	probably damaging	Het
Lama3	T	G	18: 12,537,133 (GRCm39)	F259L	probably benign	Het
Mfsd6	A	G	1: 52,701,547 (GRCm39)		probably null	Het
Mical3	A	T	6: 120,950,694 (GRCm39)		probably null	Het
Mob3b	A	G	4: 35,083,839 (GRCm39)	Y117H	probably damaging	Het
Mrpl2	G	A	17: 46,959,181 (GRCm39)	G95D	probably damaging	Het
Mstn	A	T	1: 53,105,554 (GRCm39)	I299F	probably damaging	Het
Mta3	C	T	17: 84,022,091 (GRCm39)	R49W	probably damaging	Het
Mylk3	A	G	8: 86,077,114 (GRCm39)	F574L	probably damaging	Het
Naca	T	A	10: 127,875,990 (GRCm39)	S341T	unknown	Het
Ncoa1	T	C	12: 4,299,722 (GRCm39)	D1401G	probably benign	Het
Nedd4	T	A	9: 72,577,381 (GRCm39)	Y69N	probably benign	Het
Nin	T	C	12: 70,091,013 (GRCm39)	T801A		Het
Nsd1	T	A	13: 55,409,439 (GRCm39)	L1336*	probably null	Het
Nudt16l2	C	A	9: 105,020,600 (GRCm39)		probably null	Het
Oprk1	G	A	1: 5,672,619 (GRCm39)	R252H	probably damaging	Het
Or4c10b	A	T	2: 89,711,397 (GRCm39)	T76S	possibly damaging	Het
Or4c10b	A	G	2: 89,711,185 (GRCm39)	N5S	probably benign	Het
Or5w15	C	T	2: 87,568,056 (GRCm39)	G204D	probably damaging	Het
Pcdhga11	T	C	18: 37,889,717 (GRCm39)	F242L	probably damaging	Het
Pof1b	A	G	X: 111,554,042 (GRCm39)	I544T	probably benign	Het
Pold1	T	C	7: 44,191,572 (GRCm39)	H138R	possibly damaging	Het
Ptprd	A	T	4: 75,990,199 (GRCm39)	D504E	probably benign	Het
Rabgap1l	A	G	1: 160,472,935 (GRCm39)	V501A	probably damaging	Het
Rimklb	T	C	6: 122,429,697 (GRCm39)	N233S	probably benign	Het
Rnf213	A	G	11: 119,343,401 (GRCm39)	I3589V		Het
Rora	T	A	9: 69,280,472 (GRCm39)	C348*	probably null	Het
Sdhaf3	T	C	6: 6,956,043 (GRCm39)	V6A	probably benign	Het
Serpina3m	T	A	12: 104,355,777 (GRCm39)	L148Q	probably damaging	Het
Sik1	T	C	17: 32,067,746 (GRCm39)	D443G	possibly damaging	Het
Sim2	A	G	16: 93,923,559 (GRCm39)	T366A	probably benign	Het
Slc32a1	T	C	2: 158,453,243 (GRCm39)	F28L	probably damaging	Het
Sorbs1	A	T	19: 40,314,573 (GRCm39)	Y746*	probably null	Het
Speer4b	T	A	5: 27,703,821 (GRCm39)	N106I	possibly damaging	Het
Sphkap	A	G	1: 83,243,706 (GRCm39)	S1269P	probably damaging	Het
Tcf4	T	C	18: 69,766,649 (GRCm39)	V205A	probably damaging	Het
Thsd7a	C	T	6: 12,352,090 (GRCm39)	R1035H		Het
Tmprss11c	A	T	5: 86,385,478 (GRCm39)		probably null	Het
Trim50	A	G	5: 135,396,365 (GRCm39)	T438A	probably benign	Het
Ttc21a	C	T	9: 119,774,607 (GRCm39)	P287L	probably damaging	Het
Ttc41	C	T	10: 86,549,367 (GRCm39)	S187L	probably benign	Het
Ttll3	C	T	6: 113,390,839 (GRCm39)	P807L	probably benign	Het
Ttn	A	C	2: 76,597,696 (GRCm39)	V19739G	probably benign	Het
Usp15	C	A	10: 123,007,100 (GRCm39)	C127F	probably damaging	Het
Vmn2r100	G	T	17: 19,752,233 (GRCm39)	A822S	probably benign	Het
Zan	A	T	5: 137,461,756 (GRCm39)	V1141D	unknown	Het
Zfp457	A	T	13: 67,442,241 (GRCm39)	C111*	probably null	Het
Zfp758	C	T	17: 22,594,116 (GRCm39)	Q201*	probably null	Het
Zkscan2	T	C	7: 123,099,030 (GRCm39)	E54G	possibly damaging	Het

Other mutations in Fubp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01402:Fubp3	APN	2	31,494,733 (GRCm39)	splice site	probably null
IGL01583:Fubp3	APN	2	31,501,755 (GRCm39)	unclassified	probably benign
IGL02532:Fubp3	APN	2	31,490,571 (GRCm39)	unclassified	probably benign
IGL02709:Fubp3	APN	2	31,485,343 (GRCm39)	splice site	probably benign
R0140:Fubp3	UTSW	2	31,498,196 (GRCm39)	missense	probably damaging	1.00
R0555:Fubp3	UTSW	2	31,498,149 (GRCm39)	missense	probably damaging	0.98
R1303:Fubp3	UTSW	2	31,490,532 (GRCm39)	missense	probably damaging	1.00
R1439:Fubp3	UTSW	2	31,488,563 (GRCm39)	missense	probably damaging	1.00
R1447:Fubp3	UTSW	2	31,490,559 (GRCm39)	missense	probably damaging	0.99
R1789:Fubp3	UTSW	2	31,501,747 (GRCm39)	missense	possibly damaging	0.62
R1973:Fubp3	UTSW	2	31,493,298 (GRCm39)	missense	probably benign
R2141:Fubp3	UTSW	2	31,490,569 (GRCm39)	unclassified	probably benign
R4708:Fubp3	UTSW	2	31,498,122 (GRCm39)	missense	probably benign	0.01
R4780:Fubp3	UTSW	2	31,473,223 (GRCm39)	missense	probably damaging	0.99
R4836:Fubp3	UTSW	2	31,498,153 (GRCm39)	missense	possibly damaging	0.93
R5468:Fubp3	UTSW	2	31,493,247 (GRCm39)	missense	probably benign
R5851:Fubp3	UTSW	2	31,488,622 (GRCm39)	missense	probably benign
R6778:Fubp3	UTSW	2	31,488,685 (GRCm39)	missense	possibly damaging	0.93
R7074:Fubp3	UTSW	2	31,485,306 (GRCm39)	missense	probably damaging	1.00
R7317:Fubp3	UTSW	2	31,494,624 (GRCm39)	critical splice acceptor site	probably null
R8381:Fubp3	UTSW	2	31,482,509 (GRCm39)	critical splice donor site	probably null
R8919:Fubp3	UTSW	2	31,482,476 (GRCm39)	critical splice acceptor site	probably null
R9227:Fubp3	UTSW	2	31,502,564 (GRCm39)	missense	probably benign	0.00
R9273:Fubp3	UTSW	2	31,503,056 (GRCm39)	missense	probably benign	0.01
X0022:Fubp3	UTSW	2	31,473,236 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAATGGTTGAGACCTCCCAG -3'
(R):5'- TGTGGCATTCGAAGAGAGGTC -3'

Sequencing Primer
(F):5'- TCCCAGGTTATGAGGCAGG -3'
(R):5'- AGGTCTGTAAGGGAGCCTC -3'

Posted On

2019-06-26