Mutagenetix > Incidental Mutation

Incidental Mutation 'R1832:Fbxo40'

204899

Institutional Source

Beutler Lab

Gene Symbol

Fbxo40

Ensembl Gene

ENSMUSG00000047746

Gene Name

F-box protein 40

Synonyms

9830003A13Rik

MMRRC Submission

039859-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.142) question?

Stock #

R1832 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36783822-36810829 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 36789218 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Stop codon at position 631 (G631*)

Ref Sequence

ENSEMBL: ENSMUSP00000110454 (fasta)

Gene Model

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

AlphaFold

P62932

Predicted Effect

probably null
Transcript: ENSMUST00000075869
AA Change: G631*

SMART Domains

Protein: ENSMUSP00000075266
Gene: ENSMUSG00000047746
AA Change: G631*

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 null
Transcript: ENSMUST00000114806
AA Change: G631*

SMART Domains

Protein: ENSMUSP00000110454
Gene: ENSMUSG00000047746
AA Change: G631*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.6%
20x: 90.7%

Validation Efficiency

100% (82/82)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	A	3: 124,350,509 (GRCm39)	D143V	unknown	Het
Abca8a	A	T	11: 109,962,277 (GRCm39)	N525K	probably damaging	Het
Abhd12	T	A	2: 150,690,338 (GRCm39)	D119V	probably damaging	Het
Adamts20	A	T	15: 94,184,225 (GRCm39)	M1526K	probably benign	Het
Ankdd1a	A	T	9: 65,411,771 (GRCm39)		probably null	Het
Ankrd1	C	T	19: 36,092,378 (GRCm39)	C283Y	possibly damaging	Het
Arfgef1	G	C	1: 10,275,115 (GRCm39)	I312M	probably benign	Het
Bhlhe22	G	A	3: 18,109,139 (GRCm39)	C63Y	probably damaging	Het
Bmp8a	A	T	4: 123,218,885 (GRCm39)		probably benign	Het
Ccdc148	A	T	2: 58,891,911 (GRCm39)	S235T	probably damaging	Het
Ccdc88b	G	A	19: 6,830,900 (GRCm39)	Q681*	probably null	Het
Cep104	T	A	4: 154,087,003 (GRCm39)	V842E	probably benign	Het
Chac2	T	C	11: 30,927,568 (GRCm39)	N117S	probably benign	Het
Cimap3	C	T	3: 105,921,912 (GRCm39)	E4K	possibly damaging	Het
Cldn8	T	A	16: 88,359,746 (GRCm39)	I60F	probably benign	Het
Col16a1	G	A	4: 129,970,850 (GRCm39)		probably null	Het
Col4a1	A	G	8: 11,264,644 (GRCm39)		probably benign	Het
Cyp2a4	G	T	7: 26,011,635 (GRCm39)	E285D	probably damaging	Het
Cyp4a31	G	A	4: 115,426,928 (GRCm39)	G176D	probably benign	Het
Dmxl2	A	C	9: 54,368,233 (GRCm39)	Y246D	probably damaging	Het
Dync1h1	A	G	12: 110,580,493 (GRCm39)	K118R	probably damaging	Het
Dync2i1	T	A	12: 116,171,363 (GRCm39)	S958C	probably damaging	Het
Eif3h	T	C	15: 51,728,832 (GRCm39)	T8A	possibly damaging	Het
Fbh1	G	T	2: 11,772,211 (GRCm39)	L157I	probably benign	Het
Gabrb1	T	A	5: 72,279,281 (GRCm39)		probably null	Het
Galc	A	G	12: 98,200,499 (GRCm39)		probably null	Het
Garin2	G	A	12: 78,762,280 (GRCm39)		probably benign	Het
H2-Q7	C	A	17: 35,658,675 (GRCm39)	S104R	probably benign	Het
Igkv13-54-1	A	T	6: 69,594,277 (GRCm39)	M31L	probably benign	Het
Lamc2	C	T	1: 153,041,933 (GRCm39)	R67Q	possibly damaging	Het
Lcn10	A	G	2: 25,575,151 (GRCm39)	D173G	probably damaging	Het
Llgl2	G	T	11: 115,741,926 (GRCm39)	R656L	probably damaging	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Lrrc66	G	A	5: 73,764,769 (GRCm39)	S758L	possibly damaging	Het
Ly6d	T	C	15: 74,634,615 (GRCm39)	K46E	probably damaging	Het
Map3k5	A	G	10: 19,975,306 (GRCm39)	N88D	probably damaging	Het
Mertk	A	T	2: 128,604,132 (GRCm39)	E422V	probably benign	Het
Mixl1	A	G	1: 180,522,296 (GRCm39)	V195A	probably benign	Het
Nmnat3	T	C	9: 98,281,521 (GRCm39)	V41A	probably damaging	Het
Or1r1	A	T	11: 73,875,319 (GRCm39)	N38K	probably damaging	Het
Or2a7	A	G	6: 43,151,834 (GRCm39)	R305G	probably benign	Het
Or7g34	A	G	9: 19,478,492 (GRCm39)	Y63H	possibly damaging	Het
Pappa2	T	A	1: 158,684,886 (GRCm39)	E751V	probably damaging	Het
Pcsk2	A	G	2: 143,635,189 (GRCm39)	S355G	probably damaging	Het
Pdzd2	A	G	15: 12,390,134 (GRCm39)	V821A	probably damaging	Het
Plxna4	A	C	6: 32,174,761 (GRCm39)	D1109E	probably benign	Het
Ppard	A	G	17: 28,516,084 (GRCm39)	M103V	probably benign	Het
Pramel51	T	C	12: 88,145,218 (GRCm39)	E44G	possibly damaging	Het
Ralgapa1	T	C	12: 55,804,752 (GRCm39)	T515A	probably benign	Het
Rin2	A	G	2: 145,703,091 (GRCm39)	I596V	possibly damaging	Het
Rnls	A	G	19: 33,145,895 (GRCm39)	S75P	possibly damaging	Het
Rsph10b	A	T	5: 143,903,997 (GRCm39)	Y236F	possibly damaging	Het
Runx1t1	C	T	4: 13,835,628 (GRCm39)		probably benign	Het
Sardh	A	G	2: 27,125,581 (GRCm39)	V311A	possibly damaging	Het
Sbno2	G	T	10: 79,896,439 (GRCm39)	Y889*	probably null	Het
Sclt1	A	G	3: 41,681,546 (GRCm39)	V91A	probably damaging	Het
Sema4g	T	A	19: 44,987,456 (GRCm39)	V534E	probably benign	Het
Shoc1	T	G	4: 59,066,441 (GRCm39)	I768L	probably benign	Het
Slc10a1	G	A	12: 81,000,446 (GRCm39)	S351F	probably benign	Het
Slc19a3	A	T	1: 83,000,468 (GRCm39)	V183E	probably damaging	Het
Slc25a12	A	G	2: 71,164,054 (GRCm39)	Y74H	possibly damaging	Het
Slc6a19	T	A	13: 73,841,069 (GRCm39)	I114L	probably benign	Het
Smpd2	A	T	10: 41,364,232 (GRCm39)	C189S	probably benign	Het
Spon1	T	A	7: 113,616,018 (GRCm39)	V295D	probably benign	Het
Tet3	A	G	6: 83,380,627 (GRCm39)	S514P	probably benign	Het
Tnk1	T	C	11: 69,747,754 (GRCm39)	I49M	probably damaging	Het
Trim80	A	G	11: 115,337,619 (GRCm39)	T431A	probably benign	Het
Vgf	A	T	5: 137,060,153 (GRCm39)	Q105L	possibly damaging	Het
Vmn1r37	G	T	6: 66,708,780 (GRCm39)	L135F	probably benign	Het
Vps37d	C	T	5: 135,102,594 (GRCm39)	A128T	possibly damaging	Het
Wwp1	T	C	4: 19,650,197 (GRCm39)	D323G	probably benign	Het
Zfp456	T	A	13: 67,515,482 (GRCm39)	I75L	probably benign	Het
Zfp990	A	G	4: 145,264,780 (GRCm39)	I593V	possibly damaging	Het

Other mutations in Fbxo40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01339:Fbxo40	APN	16	36,790,816 (GRCm39)	missense	probably damaging	1.00
IGL02238:Fbxo40	APN	16	36,789,536 (GRCm39)	missense	possibly damaging	0.63
IGL02389:Fbxo40	APN	16	36,790,136 (GRCm39)	missense	probably benign	0.26
IGL02619:Fbxo40	APN	16	36,790,766 (GRCm39)	missense	possibly damaging	0.92
IGL02620:Fbxo40	APN	16	36,786,442 (GRCm39)	missense	probably benign	0.14
leuk	UTSW	16	36,789,236 (GRCm39)	missense	probably damaging	1.00
R0532:Fbxo40	UTSW	16	36,789,984 (GRCm39)	missense	possibly damaging	0.92
R1016:Fbxo40	UTSW	16	36,789,539 (GRCm39)	nonsense	probably null
R1783:Fbxo40	UTSW	16	36,786,584 (GRCm39)	missense	probably damaging	0.99
R1938:Fbxo40	UTSW	16	36,789,713 (GRCm39)	missense	probably damaging	0.98
R1974:Fbxo40	UTSW	16	36,790,303 (GRCm39)	missense	probably benign
R1995:Fbxo40	UTSW	16	36,790,231 (GRCm39)	missense	probably damaging	1.00
R3856:Fbxo40	UTSW	16	36,789,445 (GRCm39)	missense	probably damaging	1.00
R4346:Fbxo40	UTSW	16	36,790,525 (GRCm39)	missense	probably benign	0.01
R4907:Fbxo40	UTSW	16	36,790,064 (GRCm39)	missense	probably benign	0.01
R5059:Fbxo40	UTSW	16	36,790,658 (GRCm39)	missense	possibly damaging	0.48
R5114:Fbxo40	UTSW	16	36,789,236 (GRCm39)	missense	probably damaging	1.00
R5361:Fbxo40	UTSW	16	36,789,914 (GRCm39)	missense	possibly damaging	0.62
R5721:Fbxo40	UTSW	16	36,789,296 (GRCm39)	missense	probably benign	0.06
R5724:Fbxo40	UTSW	16	36,790,692 (GRCm39)	missense	probably benign	0.18
R5808:Fbxo40	UTSW	16	36,790,744 (GRCm39)	missense	probably damaging	1.00
R6189:Fbxo40	UTSW	16	36,786,526 (GRCm39)	missense	probably benign	0.32
R6461:Fbxo40	UTSW	16	36,790,390 (GRCm39)	missense	probably benign	0.00
R6571:Fbxo40	UTSW	16	36,789,668 (GRCm39)	missense	probably damaging	1.00
R6598:Fbxo40	UTSW	16	36,789,376 (GRCm39)	missense	probably damaging	1.00
R6639:Fbxo40	UTSW	16	36,790,937 (GRCm39)	missense	probably damaging	1.00
R7017:Fbxo40	UTSW	16	36,790,732 (GRCm39)	missense	probably damaging	1.00
R7827:Fbxo40	UTSW	16	36,789,861 (GRCm39)	missense	probably damaging	1.00
R7889:Fbxo40	UTSW	16	36,790,012 (GRCm39)	missense	probably damaging	1.00
R8047:Fbxo40	UTSW	16	36,790,231 (GRCm39)	missense	probably damaging	1.00
R8293:Fbxo40	UTSW	16	36,790,387 (GRCm39)	missense	probably benign
R8297:Fbxo40	UTSW	16	36,789,670 (GRCm39)	missense	probably damaging	0.98
R8397:Fbxo40	UTSW	16	36,790,985 (GRCm39)	missense	probably damaging	1.00
R8423:Fbxo40	UTSW	16	36,790,947 (GRCm39)	missense	probably damaging	1.00
R8515:Fbxo40	UTSW	16	36,791,015 (GRCm39)	missense	probably damaging	1.00
R9064:Fbxo40	UTSW	16	36,791,002 (GRCm39)	missense	probably damaging	0.99
R9088:Fbxo40	UTSW	16	36,790,150 (GRCm39)	missense
R9119:Fbxo40	UTSW	16	36,786,457 (GRCm39)	missense	probably damaging	0.99
R9278:Fbxo40	UTSW	16	36,789,940 (GRCm39)	missense	possibly damaging	0.94
R9339:Fbxo40	UTSW	16	36,789,286 (GRCm39)	missense	probably damaging	1.00
X0022:Fbxo40	UTSW	16	36,789,663 (GRCm39)	missense	probably benign	0.37
Z1176:Fbxo40	UTSW	16	36,789,961 (GRCm39)	missense	probably damaging	1.00
Z1177:Fbxo40	UTSW	16	36,790,624 (GRCm39)	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- CATGACATCTAAGCAGACATTAGC -3'
(R):5'- AGCCTGAATTCTCTAACCAGCC -3'

Sequencing Primer
(F):5'- GCAGACATTAGCATCTATGATGGC -3'
(R):5'- GAATTCTCTAACCAGCCTGCCC -3'

Posted On

2014-06-23