Mutagenetix > Incidental Mutations

Incidental Mutation 'R1995:Fbxo40'

225704

Institutional Source

Beutler Lab

Gene Symbol

Fbxo40

Ensembl Gene

ENSMUSG00000047746

Gene Name

F-box protein 40

Synonyms

MMRRC Submission

040005-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R1995 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36963460-36990467 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36969869 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 293 (D293G)

Ref Sequence

ENSEMBL: ENSMUSP00000110454 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000075869
AA Change: D293G

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

SMART Domains

Protein: ENSMUSP00000075266
Gene: ENSMUSG00000047746
AA Change: D293G

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: D293G

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

SMART Domains

Protein: ENSMUSP00000110454
Gene: ENSMUSG00000047746
AA Change: D293G

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: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtpbp1	T	G	13: 59,531,058	K145N	probably damaging	Het
AY358078	T	A	14: 51,826,062	D388E	probably damaging	Het
Btbd9	A	G	17: 30,274,930	Y496H	possibly damaging	Het
Catsperb	T	A	12: 101,602,767	N899K	possibly damaging	Het
Ccdc129	T	C	6: 55,968,709	I805T	probably benign	Het
Cenpl	T	C	1: 161,078,424	S123P	probably damaging	Het
Cep120	G	A	18: 53,740,136	T41I	probably damaging	Het
Cep295	C	T	9: 15,340,883	E397K	probably damaging	Het
Cnbd1	G	A	4: 19,055,112	P105S	possibly damaging	Het
Col6a1	T	C	10: 76,721,956	N149D	probably damaging	Het
Ctnna3	T	A	10: 63,820,364	V241D	probably damaging	Het
Dcbld2	A	C	16: 58,456,332	E495D	probably benign	Het
Dmp1	T	G	5: 104,209,913	S40A	possibly damaging	Het
Dpysl4	A	G	7: 139,096,770	I379V	probably benign	Het
Eral1	C	T	11: 78,074,489	G367S	probably benign	Het
Fah	C	T	7: 84,602,181	R31Q	probably damaging	Het
Fbn1	T	A	2: 125,350,373		probably null	Het
Gemin6	A	C	17: 80,227,985	T125P	probably damaging	Het
Gpbar1	G	A	1: 74,279,444	G282D	possibly damaging	Het
Gria2	G	A	3: 80,802,357	L10F	probably benign	Het
Gucy1b1	A	G	3: 82,034,853	I533T	probably damaging	Het
H2-M9	A	T	17: 36,641,786	Y123N	probably damaging	Het
Hipk2	C	A	6: 38,715,974	D868Y	probably damaging	Het
Jarid2	T	C	13: 44,874,441	L123P	probably damaging	Het
Kcnb2	C	A	1: 15,709,766	N287K	possibly damaging	Het
Kdm8	G	A	7: 125,452,339	G35S	probably benign	Het
Kirrel	G	T	3: 87,095,786	A100D	possibly damaging	Het
Ltbp2	T	G	12: 84,808,446		probably null	Het
Mfsd12	C	A	10: 81,357,681	H28Q	probably damaging	Het
Neb	C	T	2: 52,298,732	V837M	probably damaging	Het
Nkain2	A	G	10: 32,402,351	I26T	possibly damaging	Het
Nuggc	A	G	14: 65,611,174	R175G	probably benign	Het
Olfr1122	T	G	2: 87,387,831	I42R	probably damaging	Het
Olfr1161	T	A	2: 88,025,672	S317T	probably benign	Het
Olfr205	A	G	16: 59,329,291	S73P	probably damaging	Het
Olfr965	T	C	9: 39,719,413	F62S	probably damaging	Het
Pcnt	G	A	10: 76,392,799	Q1511*	probably null	Het
Piezo2	G	T	18: 63,078,781	T1311K	probably damaging	Het
Pik3c2a	T	C	7: 116,354,006	Y1218C	probably damaging	Het
Pik3r4	T	A	9: 105,669,165	S905T	probably benign	Het
Pikfyve	T	A	1: 65,246,708	D1035E	probably damaging	Het
Pkn3	G	C	2: 30,089,977	G744A	probably damaging	Het
Pms1	A	G	1: 53,195,015	S781P	probably benign	Het
Pogz	C	T	3: 94,877,944	R793W	probably damaging	Het
Prrc2a	A	T	17: 35,157,429	V795D	probably damaging	Het
Rock1	G	A	18: 10,101,026	R630*	probably null	Het
Scd4	T	A	19: 44,334,178	I70N	possibly damaging	Het
Serpine2	A	G	1: 79,821,442	S32P	probably damaging	Het
Slc9c1	A	C	16: 45,554,255	T328P	probably damaging	Het
Spata31d1b	G	C	13: 59,716,380	L447F	probably benign	Het
Speer2	A	G	16: 69,858,077	S167P	probably benign	Het
Sphkap	G	A	1: 83,277,515	R838*	probably null	Het
Tbcel	C	A	9: 42,451,661	G29W	probably damaging	Het
Tmcc3	T	C	10: 94,578,606	S57P	possibly damaging	Het
Tmem240	T	A	4: 155,739,847	D125E	possibly damaging	Het
Ttll7	G	A	3: 146,961,755	C792Y	possibly damaging	Het
Vmn1r177	T	A	7: 23,865,687	I255F	probably damaging	Het
Zp2	T	A	7: 120,135,165	I554F	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
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'- AGCTCACGGGAATCTTGAAGG -3'
(R):5'- CTGGACAAGTTTGGCAAGTG -3'

Sequencing Primer
(F):5'- CTCACGGGAATCTTGAAGGTATAAAC -3'
(R):5'- GCACGCAGCCTCTGTTTTAACAG -3'

Posted On

2014-08-25