Mutagenetix > Incidental Mutation

Incidental Mutation 'R7017:Fbxo40'

545412

Institutional Source

Beutler Lab

Gene Symbol

Fbxo40

Ensembl Gene

ENSMUSG00000047746

Gene Name

F-box protein 40

Synonyms

9830003A13Rik

MMRRC Submission

045118-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.151) question?

Stock #

R7017 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36783822-36810829 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36790732 bp (GRCm39)

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]

AlphaFold

P62932

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: 37,288,926 (GRCm39)		probably benign	Het
Acot3	A	T	12: 84,100,077 (GRCm39)		probably benign	Het
Add3	T	A	19: 53,222,284 (GRCm39)	V297E	possibly damaging	Het
Arfgap1	C	G	2: 180,618,097 (GRCm39)		probably null	Het
Cacna1i	T	C	15: 80,264,671 (GRCm39)	F1500L	probably damaging	Het
Cacna1s	T	C	1: 136,023,596 (GRCm39)	I945T	probably damaging	Het
Ccdc180	T	A	4: 45,940,934 (GRCm39)	N1334K	possibly damaging	Het
Cd5l	C	A	3: 87,273,368 (GRCm39)	Y112*	probably null	Het
Cracd	GAGGCAGCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG	GAGACAACGCGAGGCCGAGAGGCAGG	5: 77,004,795 (GRCm39)		probably benign	Het
Cyp2d40	A	T	15: 82,644,234 (GRCm39)	F297Y	unknown	Het
Ddx4	C	T	13: 112,738,022 (GRCm39)	V546I	probably damaging	Het
Dgkg	T	C	16: 22,391,463 (GRCm39)	M332V	probably benign	Het
Dnah12	T	C	14: 26,456,835 (GRCm39)	I867T	probably benign	Het
Dnah2	T	A	11: 69,382,373 (GRCm39)	K1246*	probably null	Het
Drd2	G	A	9: 49,312,129 (GRCm39)	V161I	probably benign	Het
Dsp	A	G	13: 38,370,683 (GRCm39)	D862G	probably benign	Het
Ephx4	T	C	5: 107,553,980 (GRCm39)	F10S	probably damaging	Het
Fabp9	C	A	3: 10,259,756 (GRCm39)	A76S	possibly damaging	Het
Fat4	G	A	3: 38,945,692 (GRCm39)	M1528I	probably benign	Het
Fbxl12	A	G	9: 20,529,616 (GRCm39)	S84P	unknown	Het
Fpr1	C	T	17: 18,097,654 (GRCm39)	V112I	probably benign	Het
Frem2	T	C	3: 53,427,023 (GRCm39)	N2975S	probably benign	Het
Gask1a	T	C	9: 121,795,052 (GRCm39)		probably null	Het
Gm7945	T	C	14: 41,105,610 (GRCm39)	Y156C		Het
Gnpat	T	C	8: 125,590,014 (GRCm39)	V13A	probably benign	Het
Gpx5	G	A	13: 21,475,561 (GRCm39)	P55L	probably damaging	Het
Hbp1	A	G	12: 31,993,852 (GRCm39)	S59P	probably damaging	Het
Ighv1-36	T	A	12: 114,843,533 (GRCm39)	D109V	probably damaging	Het
Iqcf5	T	A	9: 106,392,863 (GRCm39)	I40N	possibly damaging	Het
Kcnma1	T	G	14: 23,544,711 (GRCm39)	I484L	possibly damaging	Het
Kera	A	T	10: 97,444,939 (GRCm39)	R99S	possibly damaging	Het
Kif3b	T	A	2: 153,171,644 (GRCm39)	S707R	possibly damaging	Het
Lilra6	G	T	7: 3,911,707 (GRCm39)	T317N	possibly damaging	Het
Lrrc15	C	T	16: 30,091,780 (GRCm39)	E520K	probably benign	Het
Lrrc34	C	T	3: 30,699,465 (GRCm39)		probably null	Het
Lvrn	A	G	18: 46,983,745 (GRCm39)	T163A	probably benign	Het
Met	T	A	6: 17,491,286 (GRCm39)	L16*	probably null	Het
Mpzl2	G	T	9: 44,958,587 (GRCm39)	D108Y	probably benign	Het
Mrgprb2	T	A	7: 48,202,585 (GRCm39)	I47F	probably benign	Het
Muc5ac	G	C	7: 141,363,424 (GRCm39)		probably benign	Het
Mybphl	T	A	3: 108,282,154 (GRCm39)	V128E	probably damaging	Het
Nckap5	A	T	1: 126,030,398 (GRCm39)	D231E	probably damaging	Het
Or5g23	T	A	2: 85,438,673 (GRCm39)	M194L	probably benign	Het
Orm1	T	A	4: 63,263,448 (GRCm39)	I87K	probably benign	Het
Pdgfrb	C	T	18: 61,214,076 (GRCm39)	P954S	probably benign	Het
Pdzd8	G	T	19: 59,333,784 (GRCm39)	S79*	probably null	Het
Pdzd9	T	A	7: 120,262,225 (GRCm39)	H79L	probably benign	Het
Plcg1	A	T	2: 160,600,017 (GRCm39)	I926F	probably damaging	Het
Plec	A	T	15: 76,057,741 (GRCm39)	F4078L	probably damaging	Het
Plek	G	A	11: 17,002,220 (GRCm39)		probably benign	Het
Pogz	T	C	3: 94,761,335 (GRCm39)	I25T	probably damaging	Het
Ppfia3	A	T	7: 45,008,224 (GRCm39)	D215E	probably benign	Het
Psg22	C	A	7: 18,458,366 (GRCm39)	S352R	probably benign	Het
Ptchd4	A	G	17: 42,813,626 (GRCm39)	Y509C	probably damaging	Het
Ralgapb	C	A	2: 158,290,257 (GRCm39)	N389K	probably benign	Het
Rdh1	A	G	10: 127,598,906 (GRCm39)	D129G	probably benign	Het
Rimbp3	A	G	16: 17,027,610 (GRCm39)	T345A	probably benign	Het
S100a14	T	C	3: 90,434,602 (GRCm39)		probably null	Het
Scamp1	T	A	13: 94,361,423 (GRCm39)	R152S	probably damaging	Het
Slc30a2	G	A	4: 134,074,726 (GRCm39)	R161Q	probably damaging	Het
Srf	T	C	17: 46,861,830 (GRCm39)	T383A	probably benign	Het
St6galnac5	T	C	3: 152,552,040 (GRCm39)	M176V	probably damaging	Het
St8sia1	C	A	6: 142,813,632 (GRCm39)	V177F	probably damaging	Het
Syt12	C	T	19: 4,510,895 (GRCm39)		probably null	Het
Tanc2	A	G	11: 105,813,934 (GRCm39)	I1793V	probably benign	Het
Tas2r123	A	G	6: 132,824,513 (GRCm39)	I137V	probably benign	Het
Tenm2	T	A	11: 36,062,236 (GRCm39)	Y543F	probably damaging	Het
Tent5b	T	C	4: 133,213,545 (GRCm39)	S139P	possibly damaging	Het
Tgfbr1	T	C	4: 47,410,728 (GRCm39)	I488T	probably damaging	Het
Tgm1	T	A	14: 55,942,398 (GRCm39)	Y651F	possibly damaging	Het
Thbs3	A	T	3: 89,131,722 (GRCm39)	D698V	probably damaging	Het
Tpra1	T	A	6: 88,885,294 (GRCm39)	I82N	probably damaging	Het
Ubr4	T	A	4: 139,120,401 (GRCm39)	D275E	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Wwp1	T	C	4: 19,623,124 (GRCm39)	Y787C	probably damaging	Het
Znfx1	T	C	2: 166,890,454 (GRCm39)	S677G	probably 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
R1832:Fbxo40	UTSW	16	36,789,218 (GRCm39)	nonsense	probably null
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
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'- AACAAGAATTTGGTGCTAGCCTG -3'
(R):5'- AGAGCATACACTCCTCTGCC -3'

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

Posted On

2019-05-13