Mutagenetix > Incidental Mutations

Incidental Mutation 'R7017:Fbxo40'

545412

Institutional Source

Beutler Lab

Gene Symbol

Fbxo40

Ensembl Gene

ENSMUSG00000047746

Gene Name

F-box protein 40

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R7017 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36963460-36990467 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36970370 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 126 (D126G)

Ref Sequence

ENSEMBL: ENSMUSP00000110454 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075869] [ENSMUST00000114806]

Predicted Effect

probably damaging
Transcript: ENSMUST00000075869
AA Change: D126G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000075266
Gene: ENSMUSG00000047746
AA Change: D126G

Domain	Start	End	E-Value	Type
Pfam:zf-TRAF_2	12	104	6.1e-42	PFAM
Pfam:F-box_4	571	686	1.2e-51	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000114806
AA Change: D126G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110454
Gene: ENSMUSG00000047746
AA Change: D126G

Domain	Start	End	E-Value	Type
PDB:2YRE\|A	12	92	1e-27	PDB
SCOP:d1k2fa_	62	97	5e-4	SMART
Blast:FBOX	578	616	1e-8	BLAST

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (75/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the F-box protein family, such as FBXO40, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410137M14Rik	A	G	17: 36,978,034		probably benign	Het
Acot3	A	T	12: 84,053,303		probably benign	Het
Add3	T	A	19: 53,233,853	V297E	possibly damaging	Het
Arfgap1	C	G	2: 180,976,304		probably null	Het
C530008M17Rik	GAGGCAGCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG	GAGACAACGCGAGGCCGAGAGGCAGG	5: 76,856,948		probably benign	Het
Cacna1i	T	C	15: 80,380,470	F1500L	probably damaging	Het
Cacna1s	T	C	1: 136,095,858	I945T	probably damaging	Het
Ccdc180	T	A	4: 45,940,934	N1334K	possibly damaging	Het
Cd5l	C	A	3: 87,366,061	Y112*	probably null	Het
Cyp2d40	A	T	15: 82,760,033	F297Y	unknown	Het
Ddx4	C	T	13: 112,601,488	V546I	probably damaging	Het
Dgkg	T	C	16: 22,572,713	M332V	probably benign	Het
Dnah12	T	C	14: 26,735,680	I867T	probably benign	Het
Dnah2	T	A	11: 69,491,547	K1246*	probably null	Het
Drd2	G	A	9: 49,400,829	V161I	probably benign	Het
Dsp	A	G	13: 38,186,707	D862G	probably benign	Het
Ephx4	T	C	5: 107,406,114	F10S	probably damaging	Het
Fabp9	C	A	3: 10,194,696	A76S	possibly damaging	Het
Fam198a	T	C	9: 121,965,986		probably null	Het
Fam46b	T	C	4: 133,486,234	S139P	possibly damaging	Het
Fat4	G	A	3: 38,891,543	M1528I	probably benign	Het
Fbxl12	A	G	9: 20,618,320	S84P	unknown	Het
Fpr1	C	T	17: 17,877,392	V112I	probably benign	Het
Frem2	T	C	3: 53,519,602	N2975S	probably benign	Het
Gm7945	T	C	14: 41,383,653	Y156C		Het
Gnpat	T	C	8: 124,863,275	V13A	probably benign	Het
Gpx5	G	A	13: 21,291,391	P55L	probably damaging	Het
Hbp1	A	G	12: 31,943,853	S59P	probably damaging	Het
Ighv1-36	T	A	12: 114,879,913	D109V	probably damaging	Het
Iqcf5	T	A	9: 106,515,664	I40N	possibly damaging	Het
Kcnma1	T	G	14: 23,494,643	I484L	possibly damaging	Het
Kera	A	T	10: 97,609,077	R99S	possibly damaging	Het
Kif3b	T	A	2: 153,329,724	S707R	possibly damaging	Het
Lilra6	G	T	7: 3,908,708	T317N	possibly damaging	Het
Lrrc15	C	T	16: 30,272,962	E520K	probably benign	Het
Lrrc34	C	T	3: 30,645,316		probably null	Het
Lvrn	A	G	18: 46,850,678	T163A	probably benign	Het
Met	T	A	6: 17,491,287	L16*	probably null	Het
Mpzl2	G	T	9: 45,047,289	D108Y	probably benign	Het
Mrgprb2	T	A	7: 48,552,837	I47F	probably benign	Het
Muc5ac	G	C	7: 141,809,687		probably benign	Het
Mybphl	T	A	3: 108,374,838	V128E	probably damaging	Het
Nckap5	A	T	1: 126,102,661	D231E	probably damaging	Het
Olfr1000	T	A	2: 85,608,329	M194L	probably benign	Het
Orm1	T	A	4: 63,345,211	I87K	probably benign	Het
Pdgfrb	C	T	18: 61,081,004	P954S	probably benign	Het
Pdzd8	G	T	19: 59,345,352	S79*	probably null	Het
Pdzd9	T	A	7: 120,663,002	H79L	probably benign	Het
Plcg1	A	T	2: 160,758,097	I926F	probably damaging	Het
Plec	A	T	15: 76,173,541	F4078L	probably damaging	Het
Plek	G	A	11: 17,052,220		probably benign	Het
Pogz	T	C	3: 94,854,024	I25T	probably damaging	Het
Ppfia3	A	T	7: 45,358,800	D215E	probably benign	Het
Psg22	C	A	7: 18,724,441	S352R	probably benign	Het
Ptchd4	A	G	17: 42,502,735	Y509C	probably damaging	Het
Ralgapb	C	A	2: 158,448,337	N389K	probably benign	Het
Rdh1	A	G	10: 127,763,037	D129G	probably benign	Het
Rimbp3	A	G	16: 17,209,746	T345A	probably benign	Het
S100a14	T	C	3: 90,527,295		probably null	Het
Scamp1	T	A	13: 94,224,915	R152S	probably damaging	Het
Slc30a2	G	A	4: 134,347,415	R161Q	probably damaging	Het
Srf	T	C	17: 46,550,904	T383A	probably benign	Het
St6galnac5	T	C	3: 152,846,403	M176V	probably damaging	Het
St8sia1	C	A	6: 142,867,906	V177F	probably damaging	Het
Syt12	C	T	19: 4,460,867		probably null	Het
Tanc2	A	G	11: 105,923,108	I1793V	probably benign	Het
Tas2r123	A	G	6: 132,847,550	I137V	probably benign	Het
Tenm2	T	A	11: 36,171,409	Y543F	probably damaging	Het
Tgfbr1	T	C	4: 47,410,728	I488T	probably damaging	Het
Tgm1	T	A	14: 55,704,941	Y651F	possibly damaging	Het
Thbs3	A	T	3: 89,224,415	D698V	probably damaging	Het
Tpra1	T	A	6: 88,908,312	I82N	probably damaging	Het
Ubr4	T	A	4: 139,393,090	D275E	probably damaging	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Wwp1	T	C	4: 19,623,124	Y787C	probably damaging	Het
Znfx1	T	C	2: 167,048,534	S677G	probably damaging	Het

Other mutations in Fbxo40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01339:Fbxo40	APN	16	36970454	missense	probably damaging	1.00
IGL02238:Fbxo40	APN	16	36969174	missense	possibly damaging	0.63
IGL02389:Fbxo40	APN	16	36969774	missense	probably benign	0.26
IGL02619:Fbxo40	APN	16	36970404	missense	possibly damaging	0.92
IGL02620:Fbxo40	APN	16	36966080	missense	probably benign	0.14
R0532:Fbxo40	UTSW	16	36969622	missense	possibly damaging	0.92
R1016:Fbxo40	UTSW	16	36969177	nonsense	probably null
R1783:Fbxo40	UTSW	16	36966222	missense	probably damaging	0.99
R1832:Fbxo40	UTSW	16	36968856	nonsense	probably null
R1938:Fbxo40	UTSW	16	36969351	missense	probably damaging	0.98
R1974:Fbxo40	UTSW	16	36969941	missense	probably benign
R1995:Fbxo40	UTSW	16	36969869	missense	probably damaging	1.00
R3856:Fbxo40	UTSW	16	36969083	missense	probably damaging	1.00
R4346:Fbxo40	UTSW	16	36970163	missense	probably benign	0.01
R4907:Fbxo40	UTSW	16	36969702	missense	probably benign	0.01
R5059:Fbxo40	UTSW	16	36970296	missense	possibly damaging	0.48
R5114:Fbxo40	UTSW	16	36968874	missense	probably damaging	1.00
R5361:Fbxo40	UTSW	16	36969552	missense	possibly damaging	0.62
R5721:Fbxo40	UTSW	16	36968934	missense	probably benign	0.06
R5724:Fbxo40	UTSW	16	36970330	missense	probably benign	0.18
R5808:Fbxo40	UTSW	16	36970382	missense	probably damaging	1.00
R6189:Fbxo40	UTSW	16	36966164	missense	probably benign	0.32
R6461:Fbxo40	UTSW	16	36970028	missense	probably benign	0.00
R6571:Fbxo40	UTSW	16	36969306	missense	probably damaging	1.00
R6598:Fbxo40	UTSW	16	36969014	missense	probably damaging	1.00
R6639:Fbxo40	UTSW	16	36970575	missense	probably damaging	1.00
X0022:Fbxo40	UTSW	16	36969301	missense	probably benign	0.37

Predicted Primers

PCR Primer
(F):5'- AACAAGAATTTGGTGCTAGCCTG -3'
(R):5'- AGAGCATACACTCCTCTGCC -3'

Sequencing Primer
(F):5'- AATTTGGTGCTAGCCTGGCATC -3'
(R):5'- GCCTCAACTCTGAGTATGGCTG -3'

Posted On

2019-05-13