Mutagenetix > Incidental Mutations

Incidental Mutation 'R7405:Fbxo7'

574525

Institutional Source

Beutler Lab

Gene Symbol

Fbxo7

Ensembl Gene

ENSMUSG00000001786

Gene Name

F-box protein 7

Synonyms

2410015K21Rik, A230052G17Rik

MMRRC Submission

Accession Numbers

NCBI RefSeq: NM_153195.2; MGI: 1917004

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7405 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86021972-86051873 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86044581 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 377 (Y377N)

Ref Sequence

ENSEMBL: ENSMUSP00000120840 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001837] [ENSMUST00000117597] [ENSMUST00000120344] [ENSMUST00000130320]

Predicted Effect

probably benign
Transcript: ENSMUST00000001837

SMART Domains

Protein: ENSMUSP00000001837
Gene: ENSMUSG00000001786

Domain	Start	End	E-Value	Type
Blast:UBQ	1	40	7e-10	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000117597
AA Change: Y296N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113263
Gene: ENSMUSG00000001786
AA Change: Y296N

Domain	Start	End	E-Value	Type
Pfam:PI31_Prot_N	101	245	9.6e-31	PFAM
Pfam:F-box	250	297	2.7e-6	PFAM
Pfam:F-box-like	252	298	7.2e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000120344
AA Change: Y298N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113222
Gene: ENSMUSG00000001786
AA Change: Y298N

Domain	Start	End	E-Value	Type
Pfam:PI31_Prot_N	103	247	4.8e-31	PFAM
Pfam:F-box	252	299	1.8e-6	PFAM
Pfam:F-box-like	254	300	5.1e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000130320
AA Change: Y377N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000120840
Gene: ENSMUSG00000001786
AA Change: Y377N

Domain	Start	End	E-Value	Type
SCOP:d1euvb_	1	78	7e-6	SMART
Blast:UBQ	1	79	6e-30	BLAST
Pfam:PI31_Prot_N	188	323	4.7e-20	PFAM
Pfam:F-box	331	378	9.7e-6	PFAM
Pfam:F-box-like	333	379	9.3e-8	PFAM

Coding Region Coverage

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

Validation Efficiency

MGI Phenotype

Strain: 4434927
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and it may play a role in regulation of hematopoiesis. Alternatively spliced transcript variants of this gene have been identified with the full-length natures of only some variants being determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased pro-B cell numbers and increased erythroid progenitor cell number. [provided by MGI curators]

Allele List at MGI

All alleles(7) : Targeted(4) Gene trapped(3)

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	G	T	17: 9,001,817	V383L	probably damaging	Het
1700012P22Rik	T	C	4: 144,419,753	N110S	probably damaging	Het
2410141K09Rik	T	C	13: 66,431,059	Q455R	unknown	Het
4930507D05Rik	C	A	10: 62,449,784	H96N	unknown	Het
4930539E08Rik	G	A	17: 28,905,324	R335W	probably damaging	Het
5730480H06Rik	T	C	5: 48,388,116	I235T	possibly damaging	Het
Abcb11	A	G	2: 69,287,619	Y472H	probably damaging	Het
Adam39	A	T	8: 40,824,622	I17L	probably benign	Het
Aire	T	C	10: 78,034,613	H458R	probably benign	Het
Ap3d1	T	C	10: 80,741,900	D31G	probably benign	Het
Atad2b	T	A	12: 4,943,232	H250Q	probably benign	Het
Borcs5	C	A	6: 134,685,982	T74N	probably benign	Het
Btbd16	C	T	7: 130,805,856	T292I	probably benign	Het
Catsperd	G	A	17: 56,632,335	V55M	possibly damaging	Het
Ctr9	T	C	7: 111,043,714	F462S	possibly damaging	Het
Cyp4f39	A	G	17: 32,481,815	S153G	probably benign	Het
Ddo	T	C	10: 40,647,997	C328R	possibly damaging	Het
Ddr1	A	G	17: 35,690,100	V251A	probably damaging	Het
Dis3l	A	G	9: 64,314,704	F475L	probably damaging	Het
Dkk4	G	A	8: 22,625,843	V99M	probably benign	Het
Dync1h1	C	T	12: 110,634,220	A1938V	probably damaging	Het
Ecel1	A	T	1: 87,153,516		probably null	Het
Fbxw24	T	C	9: 109,607,068	I299V	possibly damaging	Het
Fkbp10	C	T	11: 100,415,881	A33V	probably damaging	Het
Gabra1	T	C	11: 42,155,023	T87A	probably damaging	Het
Gm21886	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	18: 80,089,825		probably benign	Het
Gm884	A	T	11: 103,615,161	Y1994N	probably benign	Het
Golga3	A	T	5: 110,208,446	I1000F	probably damaging	Het
Grid2ip	T	C	5: 143,380,444	I563T	probably benign	Het
Gsx1	T	C	5: 147,189,133	S82P	possibly damaging	Het
Heg1	A	G	16: 33,763,449	K34E	possibly damaging	Het
Kank1	T	A	19: 25,410,319	L452*	probably null	Het
Lce1k	A	T	3: 92,806,874	M1K	probably null	Het
Lcmt2	A	G	2: 121,139,387	I185T	probably benign	Het
Lrp1	T	C	10: 127,581,751	D1046G	possibly damaging	Het
Mast3	A	T	8: 70,786,171	D496E	probably damaging	Het
Mst1r	C	T	9: 107,915,122	S925F	possibly damaging	Het
Mterf2	C	T	10: 85,120,496	G88D	probably damaging	Het
Mthfd1	T	C	12: 76,311,874	V783A	probably damaging	Het
Mybpc2	A	T	7: 44,507,194	W778R	probably damaging	Het
Nbea	A	G	3: 55,805,266	L2130P	possibly damaging	Het
Ndst4	A	G	3: 125,683,216	N30S	probably benign	Het
Nphs1	T	C	7: 30,462,828	V299A	possibly damaging	Het
Nup107	T	C	10: 117,770,415	D474G	probably benign	Het
Olfr1118	A	C	2: 87,308,995	I89L	probably benign	Het
Olfr1490	T	C	19: 13,654,882	V151A	probably benign	Het
Olfr225	T	A	11: 59,614,073	F370I	possibly damaging	Het
Olfr8	T	C	10: 78,955,697	V164A	probably benign	Het
Pgap2	T	C	7: 102,231,388	V41A	probably benign	Het
Plekhh1	C	T	12: 79,055,047	T297I	probably benign	Het
Plxna4	A	T	6: 32,196,319	Y1226N	probably benign	Het
Polr3b	A	G	10: 84,684,179	D653G	probably benign	Het
Ppp2r2c	T	C	5: 36,947,142	F289L	possibly damaging	Het
Prickle2	A	G	6: 92,458,543	S82P	probably damaging	Het
Ptger2	T	A	14: 44,989,074	V37D	probably damaging	Het
Rasa2	G	A	9: 96,566,027	P526S	probably benign	Het
Rbm47	A	T	5: 66,026,495	I255N	probably damaging	Het
Sez6	A	T	11: 77,962,891	T296S	probably benign	Het
Slc2a9	T	A	5: 38,391,824	I316F	probably damaging	Het
Slc41a1	T	A	1: 131,839,146	V134D	probably damaging	Het
Slc5a7	A	T	17: 54,297,133	S2T	probably benign	Het
Slc9a4	C	T	1: 40,600,926	R293C	probably damaging	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,656,691		probably benign	Het
Suco	A	G	1: 161,828,214	F1039L	possibly damaging	Het
Sycp1	A	G	3: 102,925,227	Y208H	possibly damaging	Het
Tpr	T	C	1: 150,442,127	S2129P	probably benign	Het
Trim34b	T	A	7: 104,336,483	S442T	probably damaging	Het
Ttn	A	T	2: 76,743,346	Y25734*	probably null	Het
Uchl5	C	T	1: 143,800,014	Q276*	probably null	Het
Wrn	C	G	8: 33,248,966	W1278S	probably benign	Het
Yeats2	T	A	16: 20,222,913	D1184E	probably damaging	Het
Zfat	G	A	15: 68,184,485	R241W	probably damaging	Het
Zfp646	T	A	7: 127,878,796	Y48*	probably null	Het

Other mutations in Fbxo7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00519:Fbxo7	APN	10	86029064	missense	probably damaging	0.98
IGL01483:Fbxo7	APN	10	86044581	missense	probably damaging	1.00
IGL02502:Fbxo7	APN	10	86033297	missense	probably damaging	1.00
IGL02712:Fbxo7	APN	10	86024438	missense	possibly damaging	0.75
P0007:Fbxo7	UTSW	10	86033293	missense	possibly damaging	0.95
R0410:Fbxo7	UTSW	10	86029238	critical splice donor site	probably null
R4119:Fbxo7	UTSW	10	86021895	unclassified	probably benign
R4604:Fbxo7	UTSW	10	86046802	missense	probably damaging	1.00
R4884:Fbxo7	UTSW	10	86029150	missense	probably damaging	0.99
R5088:Fbxo7	UTSW	10	86021920	unclassified	probably benign
R5286:Fbxo7	UTSW	10	86022090	missense	probably damaging	1.00
R5387:Fbxo7	UTSW	10	86024654	missense	probably benign	0.01
R5451:Fbxo7	UTSW	10	86029037	missense	probably benign	0.01
R5491:Fbxo7	UTSW	10	86048026	missense	probably damaging	1.00
R5542:Fbxo7	UTSW	10	86033285	missense	probably benign	0.00
R5647:Fbxo7	UTSW	10	86029110	missense	probably damaging	0.98
R6027:Fbxo7	UTSW	10	86048086	missense	probably damaging	1.00
R6152:Fbxo7	UTSW	10	86024696	missense	probably benign	0.01
R6280:Fbxo7	UTSW	10	86029105	missense	probably benign	0.00
R6615:Fbxo7	UTSW	10	86044534	missense	possibly damaging	0.48

Predicted Primers

PCR Primer
(F):5'- ACTCAGTAACTCCTGGTGCTC -3'
(R):5'- GCATCAGGAAACCTACAGCTTC -3'

Sequencing Primer
(F):5'- AGTAACTCCTGGTGCTCCTTTTC -3'
(R):5'- TCAGGAAACCTACAGCTTCTTTAC -3'

Posted On

2019-09-13