Mutagenetix > Incidental Mutations

Incidental Mutation 'R1974:Fbxo40'

221483

Institutional Source

Beutler Lab

Gene Symbol

Fbxo40

Ensembl Gene

ENSMUSG00000047746

Gene Name

F-box protein 40

Synonyms

MMRRC Submission

039987-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

R1974 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36963460-36990467 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 36969941 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 269 (G269E)

Ref Sequence

ENSEMBL: ENSMUSP00000110454 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000075869
AA Change: G269E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000075266
Gene: ENSMUSG00000047746
AA Change: G269E

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 benign
Transcript: ENSMUST00000114806
AA Change: G269E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000110454
Gene: ENSMUSG00000047746
AA Change: G269E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127808

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132511

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 138,067,267	L739Q	probably damaging	Het
4933436I01Rik	A	T	X: 67,920,049	Y401*	probably null	Het
Abcg3	A	G	5: 104,963,638	V321A	probably benign	Het
Acad10	C	A	5: 121,626,185	V894L	possibly damaging	Het
Adam9	A	G	8: 24,992,224	I255T	probably damaging	Het
AF529169	T	G	9: 89,601,203	T714P	probably damaging	Het
Ago3	T	C	4: 126,346,751	Y785C	probably damaging	Het
Aif1	G	A	17: 35,172,151	P44L	probably benign	Het
Akap4	A	G	X: 7,077,356	S633G	probably benign	Het
Alox15	T	A	11: 70,349,973	T194S	probably benign	Het
Amh	T	C	10: 80,806,416	S207P	probably benign	Het
Apc	T	A	18: 34,300,004	C415S	possibly damaging	Het
Atg14	G	A	14: 47,545,841	R346C	probably damaging	Het
Atp5j2	A	T	5: 145,184,579	L64Q	probably damaging	Het
Barhl2	C	G	5: 106,457,313	E177Q	probably benign	Het
C1qtnf5	T	C	9: 44,108,775	V232A	probably damaging	Het
Calr	T	C	8: 84,844,157	I290V	probably benign	Het
Cdh19	G	C	1: 110,890,159	Q618E	possibly damaging	Het
Celsr2	G	T	3: 108,414,214	D427E	probably damaging	Het
Cep250	T	C	2: 155,989,504	S1294P	probably damaging	Het
Chrna7	T	A	7: 63,099,286	T483S	probably damaging	Het
Clmn	A	T	12: 104,791,862	W132R	probably damaging	Het
Cpsf2	G	A	12: 101,990,047	D370N	probably benign	Het
Crnn	T	C	3: 93,149,287	V460A	probably benign	Het
Daam1	T	A	12: 71,988,929	I957N	probably damaging	Het
Defb9	T	C	8: 21,881,889	K36R	probably benign	Het
Dock10	T	A	1: 80,510,426	I2007F	possibly damaging	Het
Dpm1	A	T	2: 168,217,747	V143D	probably damaging	Het
Dync1h1	T	C	12: 110,625,732	V1110A	possibly damaging	Het
Erlec1	T	G	11: 30,939,604	K373N	possibly damaging	Het
Fam160b1	T	C	19: 57,385,377	F690L	probably damaging	Het
Fbxw7	T	A	3: 84,954,935	C70S	possibly damaging	Het
Fnbp1	G	T	2: 31,053,047	R280S	probably null	Het
Gapvd1	G	A	2: 34,700,841	R940C	probably damaging	Het
Gfod2	T	C	8: 105,717,510	K134E	possibly damaging	Het
Gm13757	A	T	2: 88,446,509	I143N	probably damaging	Het
Gpi1	A	T	7: 34,220,803		probably null	Het
Grik2	A	T	10: 49,132,827	N721K	possibly damaging	Het
Gsn	G	T	2: 35,301,471	G455V	probably damaging	Het
Hlx	G	T	1: 184,731,987	A52D	probably damaging	Het
Hpse	A	G	5: 100,692,238	S338P	probably damaging	Het
Hyal2	T	C	9: 107,572,172	C376R	probably damaging	Het
Inf2	A	G	12: 112,608,337	T781A	unknown	Het
Iscu	A	G	5: 113,777,018		probably benign	Het
Kcna4	G	A	2: 107,296,220	G433D	possibly damaging	Het
Kir3dl2	T	A	X: 136,456,275	N146I	probably benign	Het
Klrg1	T	A	6: 122,282,762	Q17L	possibly damaging	Het
Krt82	T	G	15: 101,545,162	Q263P	probably benign	Het
Mfrp	T	C	9: 44,106,372	C554R	probably damaging	Het
Mst1r	T	C	9: 107,914,763	Y833H	probably damaging	Het
Mst1r	T	A	9: 107,915,933		probably null	Het
Nfix	G	A	8: 84,726,526	R300C	probably damaging	Het
Nipal4	T	C	11: 46,151,383	N157S	probably damaging	Het
Notch2	G	A	3: 98,072,755	G195D	probably damaging	Het
Nrcam	A	T	12: 44,563,993	H492L	probably benign	Het
Olfr433	A	T	1: 174,042,588	I213F	probably damaging	Het
Papln	G	A	12: 83,782,037	R817H	probably damaging	Het
Pcnx2	T	C	8: 125,887,371	E447G	probably benign	Het
Pdp2	T	C	8: 104,593,906	V129A	probably benign	Het
Plch2	A	G	4: 154,984,953	F1072S	possibly damaging	Het
Prag1	T	A	8: 36,102,927	D221E	probably damaging	Het
Prkg1	T	C	19: 31,585,695	D102G	probably damaging	Het
Psme4	T	A	11: 30,819,011	D662E	probably benign	Het
Ptprn	T	C	1: 75,254,820		probably null	Het
Ptprz1	A	G	6: 22,986,311	D370G	probably damaging	Het
Qser1	A	G	2: 104,760,541	S1637P	probably damaging	Het
Sema6a	T	A	18: 47,270,629	H642L	probably benign	Het
Slc30a5	A	T	13: 100,813,953	F209I	probably benign	Het
Slc4a3	G	T	1: 75,552,191	E508*	probably null	Het
Stpg2	C	T	3: 139,309,183	R370*	probably null	Het
Tas2r113	T	A	6: 132,893,833	F275I	probably benign	Het
Tmem132d	T	G	5: 128,269,199	K86N	probably damaging	Het
Tpgs2	A	T	18: 25,140,536	F189L	probably damaging	Het
Trmt6	A	G	2: 132,811,048	S104P	probably damaging	Het
Trpv3	T	C	11: 73,283,688	S294P	probably damaging	Het
Ugt2b36	A	G	5: 87,080,868		probably null	Het
Vmn1r170	A	T	7: 23,606,481	M103L	probably benign	Het
Vmn2r107	T	A	17: 20,355,617		probably null	Het
Vmn2r5	C	T	3: 64,504,221	E309K	probably damaging	Het
Vmn2r77	T	C	7: 86,800,756	V70A	probably benign	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
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
R7017:Fbxo40	UTSW	16	36970370	missense	probably damaging	1.00
R7827:Fbxo40	UTSW	16	36969499	missense	probably damaging	1.00
R7889:Fbxo40	UTSW	16	36969650	missense	probably damaging	1.00
R7972:Fbxo40	UTSW	16	36969650	missense	probably damaging	1.00
R8047:Fbxo40	UTSW	16	36969869	missense	probably damaging	1.00
X0022:Fbxo40	UTSW	16	36969301	missense	probably benign	0.37
Z1176:Fbxo40	UTSW	16	36969599	missense	probably damaging	1.00
Z1177:Fbxo40	UTSW	16	36970262	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- ATCTGCCCAAAGTGGATGAGC -3'
(R):5'- CAAATGATGGAGCTCAGTCAGG -3'

Sequencing Primer
(F):5'- ATGAGCATCCGCCCGTTG -3'
(R):5'- CTCAGTCAGGAGGAACGAGATGC -3'

Posted On

2014-08-25