Mutagenetix > Incidental Mutation

Incidental Mutation 'R6027:Fbxo7'

480117

Institutional Source

Beutler Lab

Gene Symbol

Fbxo7

Ensembl Gene

ENSMUSG00000001786

Gene Name

F-box protein 7

Synonyms

2410015K21Rik, A230052G17Rik

MMRRC Submission

044199-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6027 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85857836-85887737 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85883950 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 517 (D517G)

Ref Sequence

ENSEMBL: ENSMUSP00000120840 (fasta)

Gene Model

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

AlphaFold

Q3U7U3

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: D436G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113263
Gene: ENSMUSG00000001786
AA Change: D436G

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: D438G

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

SMART Domains

Protein: ENSMUSP00000113222
Gene: ENSMUSG00000001786
AA Change: D438G

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: D517G

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

SMART Domains

Protein: ENSMUSP00000120840
Gene: ENSMUSG00000001786
AA Change: D517G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130383

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134490

Meta Mutation Damage Score

0.3723

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.1%

Validation Efficiency

100% (68/68)

MGI Phenotype

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	C	11: 84,289,003 (GRCm39)	V2299A	probably benign	Het
Acacb	A	G	5: 114,303,661 (GRCm39)	D28G	probably benign	Het
Adamts6	G	A	13: 104,616,043 (GRCm39)	G1035D	probably damaging	Het
Adamts7	A	C	9: 90,073,078 (GRCm39)	Y755S	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Ank2	T	C	3: 126,791,528 (GRCm39)	T763A	possibly damaging	Het
Armc9	G	C	1: 86,172,389 (GRCm39)	L105F	probably damaging	Het
Asah2	T	C	19: 32,022,351 (GRCm39)	N228D	probably benign	Het
Ash1l	T	C	3: 88,892,326 (GRCm39)	Y1402H	probably damaging	Het
Aspm	T	G	1: 139,390,794 (GRCm39)	V693G	probably damaging	Het
Bptf	T	C	11: 106,965,771 (GRCm39)	E1141G	probably damaging	Het
Col12a1	C	T	9: 79,563,860 (GRCm39)		probably null	Het
Csmd2	G	A	4: 128,453,739 (GRCm39)	D3475N	unknown	Het
Dctn5	T	C	7: 121,732,564 (GRCm39)		probably benign	Het
Dhrs4	A	G	14: 55,723,580 (GRCm39)	K18E	probably benign	Het
Eci2	A	T	13: 35,169,930 (GRCm39)		probably null	Het
Efcab6	A	G	15: 83,851,922 (GRCm39)	F319L	probably benign	Het
Elane	A	T	10: 79,722,852 (GRCm39)	H86L	probably damaging	Het
Endod1	A	T	9: 14,268,893 (GRCm39)	Y197*	probably null	Het
Eno4	A	G	19: 58,935,262 (GRCm39)	D158G	probably damaging	Het
Fam217a	T	A	13: 35,094,977 (GRCm39)	T170S	possibly damaging	Het
Fkbp3	G	T	12: 65,120,692 (GRCm39)	A2E	possibly damaging	Het
Gan	A	G	8: 117,885,034 (GRCm39)	Y54C	probably damaging	Het
Gdap1l1	T	A	2: 163,293,531 (GRCm39)	N194K	possibly damaging	Het
Gnptab	A	G	10: 88,269,087 (GRCm39)	T597A	probably damaging	Het
Hmcn1	A	G	1: 150,678,646 (GRCm39)	S492P	possibly damaging	Het
Hmox1	C	A	8: 75,823,499 (GRCm39)	H56N	probably damaging	Het
Kank3	C	T	17: 34,037,088 (GRCm39)	P131S	possibly damaging	Het
Kif14	T	C	1: 136,410,797 (GRCm39)		probably null	Het
Kif1a	A	T	1: 92,953,365 (GRCm39)	M1274K	probably benign	Het
Kmt2a	A	T	9: 44,730,587 (GRCm39)		probably benign	Het
Lypla1	T	C	1: 4,907,299 (GRCm39)		probably null	Het
Man2b1	C	T	8: 85,823,381 (GRCm39)	T905I	probably damaging	Het
Mmp15	C	A	8: 96,098,804 (GRCm39)	H544N	probably benign	Het
Myh7	A	T	14: 55,208,259 (GRCm39)	N1933K	probably benign	Het
Ndst4	G	T	3: 125,507,025 (GRCm39)	A730S	probably benign	Het
Nmur1	G	A	1: 86,315,053 (GRCm39)	Q238*	probably null	Het
Nwd2	C	T	5: 63,965,563 (GRCm39)	P1716S	possibly damaging	Het
Or13c7c	A	G	4: 43,835,842 (GRCm39)	V216A	probably benign	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Or8k38	T	G	2: 86,488,148 (GRCm39)	Y218S	probably damaging	Het
P2ry6	T	G	7: 100,587,715 (GRCm39)	M215L	probably benign	Het
Parp4	G	A	14: 56,866,615 (GRCm39)	E1060K	probably benign	Het
Pde10a	A	G	17: 9,183,509 (GRCm39)	I822V	possibly damaging	Het
Pira13	T	C	7: 3,827,638 (GRCm39)	Y173C	possibly damaging	Het
Pkd1l1	C	A	11: 8,866,272 (GRCm39)	G528*	probably null	Het
Ptk2	T	A	15: 73,101,762 (GRCm39)	Q816L	probably damaging	Het
Ptprg	T	C	14: 12,220,613 (GRCm38)	F442L	possibly damaging	Het
Qrfpr	A	G	3: 36,276,187 (GRCm39)	Y68H	probably benign	Het
Ripk4	A	G	16: 97,545,274 (GRCm39)	W458R	probably damaging	Het
Ros1	G	T	10: 52,040,064 (GRCm39)	T309N	possibly damaging	Het
Rps27a	T	C	11: 29,497,808 (GRCm39)		probably benign	Het
Sarm1	T	A	11: 78,374,384 (GRCm39)	M577L	probably benign	Het
Scin	T	C	12: 40,127,515 (GRCm39)	Y425C	probably damaging	Het
Serpina12	T	A	12: 103,997,336 (GRCm39)	Y395F	probably benign	Het
Sfxn2	T	A	19: 46,571,291 (GRCm39)	Y69*	probably null	Het
Skint6	T	C	4: 112,953,761 (GRCm39)		probably null	Het
Slc7a1	A	C	5: 148,270,774 (GRCm39)	I564S	possibly damaging	Het
Smc6	T	A	12: 11,356,179 (GRCm39)	Y933N	probably benign	Het
Sp110	T	C	1: 85,505,039 (GRCm39)	S438G	possibly damaging	Het
St8sia4	T	A	1: 95,581,399 (GRCm39)	R114S	probably damaging	Het
Trim11	C	T	11: 58,869,289 (GRCm39)	A75V	possibly damaging	Het
Tufm	T	A	7: 126,086,920 (GRCm39)	H68Q	probably damaging	Het
Ythdc2	T	A	18: 44,993,503 (GRCm39)	D194E	probably benign	Het

Other mutations in Fbxo7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00519:Fbxo7	APN	10	85,864,928 (GRCm39)	missense	probably damaging	0.98
IGL01483:Fbxo7	APN	10	85,880,445 (GRCm39)	missense	probably damaging	1.00
IGL02502:Fbxo7	APN	10	85,869,161 (GRCm39)	missense	probably damaging	1.00
IGL02712:Fbxo7	APN	10	85,860,302 (GRCm39)	missense	possibly damaging	0.75
P0007:Fbxo7	UTSW	10	85,869,157 (GRCm39)	missense	possibly damaging	0.95
R0410:Fbxo7	UTSW	10	85,865,102 (GRCm39)	critical splice donor site	probably null
R4119:Fbxo7	UTSW	10	85,857,759 (GRCm39)	unclassified	probably benign
R4604:Fbxo7	UTSW	10	85,882,666 (GRCm39)	missense	probably damaging	1.00
R4884:Fbxo7	UTSW	10	85,865,014 (GRCm39)	missense	probably damaging	0.99
R5088:Fbxo7	UTSW	10	85,857,784 (GRCm39)	unclassified	probably benign
R5286:Fbxo7	UTSW	10	85,857,954 (GRCm39)	missense	probably damaging	1.00
R5387:Fbxo7	UTSW	10	85,860,518 (GRCm39)	missense	probably benign	0.01
R5451:Fbxo7	UTSW	10	85,864,901 (GRCm39)	missense	probably benign	0.01
R5491:Fbxo7	UTSW	10	85,883,890 (GRCm39)	missense	probably damaging	1.00
R5542:Fbxo7	UTSW	10	85,869,149 (GRCm39)	missense	probably benign	0.00
R5647:Fbxo7	UTSW	10	85,864,974 (GRCm39)	missense	probably damaging	0.98
R6152:Fbxo7	UTSW	10	85,860,560 (GRCm39)	missense	probably benign	0.01
R6280:Fbxo7	UTSW	10	85,864,969 (GRCm39)	missense	probably benign	0.00
R6615:Fbxo7	UTSW	10	85,880,398 (GRCm39)	missense	possibly damaging	0.48
R7405:Fbxo7	UTSW	10	85,880,445 (GRCm39)	missense	probably damaging	1.00
R8785:Fbxo7	UTSW	10	85,860,410 (GRCm39)	missense	probably benign	0.02
R9743:Fbxo7	UTSW	10	85,883,773 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- ATATGATGAGAGGCCGATACTG -3'
(R):5'- CACAATCTCCATCCCAGAGGTG -3'

Sequencing Primer
(F):5'- ATACTGCCTAGTGTTGGGGACC -3'
(R):5'- CATCCCAGAGGTGAACCAGAG -3'

Posted On

2017-06-26