Mutagenetix > Incidental Mutation

Incidental Mutation 'R0850:Fbxo44'

82504

Institutional Source

Beutler Lab

Gene Symbol

Fbxo44

Ensembl Gene

ENSMUSG00000029001

Gene Name

F-box protein 44

Synonyms

Fbx6a, Fbxo6a, FBG3, FBX30

MMRRC Submission

039029-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0850 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

148237256-148244663 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 148240726 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 220 (R220S)

Ref Sequence

ENSEMBL: ENSMUSP00000134624 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030858] [ENSMUST00000047951] [ENSMUST00000056965] [ENSMUST00000057907] [ENSMUST00000105705] [ENSMUST00000105706] [ENSMUST00000122913] [ENSMUST00000151127] [ENSMUST00000173352] [ENSMUST00000151246] [ENSMUST00000167160] [ENSMUST00000129253] [ENSMUST00000168503] [ENSMUST00000132083] [ENSMUST00000134261] [ENSMUST00000152098] [ENSMUST00000172472]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000030858

SMART Domains

Protein: ENSMUSP00000030858
Gene: ENSMUSG00000055401

Domain	Start	End	E-Value	Type
FBOX	7	48	1e-4	SMART
FBA	66	250	2.51e-113	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000047951

SMART Domains

Protein: ENSMUSP00000037377
Gene: ENSMUSG00000041556

Domain	Start	End	E-Value	Type
Pfam:F-box	50	97	3.8e-9	PFAM
Pfam:F-box-like	51	97	9.3e-8	PFAM
FBA	114	297	3.81e-104	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000056965

SMART Domains

Protein: ENSMUSP00000062348
Gene: ENSMUSG00000055401

Domain	Start	End	E-Value	Type
FBOX	7	48	1e-4	SMART
FBA	66	250	2.51e-113	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000057907
AA Change: R167S

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

SMART Domains

Protein: ENSMUSP00000054022
Gene: ENSMUSG00000029001
AA Change: R167S

Domain	Start	End	E-Value	Type
FBOX	9	50	1.37e-2	SMART
FBA	68	252	2.24e-110	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105705
AA Change: A126P

PolyPhen 2 Score 0.182 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000101330
Gene: ENSMUSG00000029001
AA Change: A126P

Domain	Start	End	E-Value	Type
FBOX	9	50	1.37e-2	SMART
FBA	68	196	2.79e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105706

SMART Domains

Protein: ENSMUSP00000101331
Gene: ENSMUSG00000055401

Domain	Start	End	E-Value	Type
FBOX	7	48	1e-4	SMART
FBA	66	250	2.51e-113	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000122913

SMART Domains

Protein: ENSMUSP00000120874
Gene: ENSMUSG00000029001

Domain	Start	End	E-Value	Type
FBOX	9	50	1.37e-2	SMART
Pfam:FBA	68	115	3e-14	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000151127
AA Change: R167S

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000134064
Gene: ENSMUSG00000029001
AA Change: R167S

Domain	Start	End	E-Value	Type
FBOX	9	50	1.37e-2	SMART
FBA	68	235	4.09e-63	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000173352
AA Change: R220S

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

SMART Domains

Protein: ENSMUSP00000134624
Gene: ENSMUSG00000029001
AA Change: R220S

Domain	Start	End	E-Value	Type
FBOX	62	103	1.37e-2	SMART
FBA	121	254	3.86e-50	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000151246
AA Change: R167S

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

SMART Domains

Protein: ENSMUSP00000114571
Gene: ENSMUSG00000029001
AA Change: R167S

Domain	Start	End	E-Value	Type
FBOX	9	50	1.37e-2	SMART
FBA	68	231	1.43e-85	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000167160
AA Change: R167S

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

SMART Domains

Protein: ENSMUSP00000126551
Gene: ENSMUSG00000029001
AA Change: R167S

Domain	Start	End	E-Value	Type
FBOX	9	50	1.37e-2	SMART
FBA	68	252	2.24e-110	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000129253
AA Change: R167S

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

SMART Domains

Protein: ENSMUSP00000117013
Gene: ENSMUSG00000029001
AA Change: R167S

Domain	Start	End	E-Value	Type
FBOX	9	50	1.37e-2	SMART
FBA	68	213	1.15e-57	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000153703
AA Change: R99S

SMART Domains

Protein: ENSMUSP00000115937
Gene: ENSMUSG00000029001
AA Change: R99S

Domain	Start	End	E-Value	Type
FBA	1	143	3.11e-54	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000168503

SMART Domains

Protein: ENSMUSP00000130188
Gene: ENSMUSG00000055401

Domain	Start	End	E-Value	Type
FBOX	7	48	1e-4	SMART
FBA	66	250	2.51e-113	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000132083

SMART Domains

Protein: ENSMUSP00000120431
Gene: ENSMUSG00000055401

Domain	Start	End	E-Value	Type
FBOX	7	48	1e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000134261

SMART Domains

Protein: ENSMUSP00000123132
Gene: ENSMUSG00000055401

Domain	Start	End	E-Value	Type
FBOX	7	48	1e-4	SMART
FBA	66	228	1.89e-85	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000152098

SMART Domains

Protein: ENSMUSP00000121379
Gene: ENSMUSG00000055401

Domain	Start	End	E-Value	Type
FBOX	7	48	1e-4	SMART
FBA	66	250	2.51e-113	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000172472

SMART Domains

Protein: ENSMUSP00000133966
Gene: ENSMUSG00000029001

Domain	Start	End	E-Value	Type
FBOX	9	50	1.37e-2	SMART
Pfam:FBA	68	126	3.4e-18	PFAM

Meta Mutation Damage Score

0.6806

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. It is also a member of the NFB42 (neural F Box 42 kDa) family, similar to F-box only protein 2 and F-box only protein 6. Several alternatively spliced transcript variants encoding two distinct isoforms have been found for this gene. [provided by RefSeq, Feb 2015]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,642,480 (GRCm39)	T141S	probably benign	Het
Aadacl2fm2	T	G	3: 59,659,669 (GRCm39)	I374R	possibly damaging	Het
Agbl3	T	A	6: 34,776,139 (GRCm39)	F210Y	probably damaging	Het
Dgkq	A	G	5: 108,802,444 (GRCm39)	V418A	possibly damaging	Het
Dmp1	A	T	5: 104,360,653 (GRCm39)	D443V	possibly damaging	Het
Elapor2	T	A	5: 9,467,993 (GRCm39)	N220K	probably damaging	Het
Elavl3	T	G	9: 21,948,059 (GRCm39)	D35A	probably damaging	Het
Fbxw25	T	C	9: 109,478,685 (GRCm39)	K425R	probably benign	Het
Gypa	A	G	8: 81,222,974 (GRCm39)	H26R	unknown	Het
H2-DMb1	T	C	17: 34,374,536 (GRCm39)	V62A	probably benign	Het
Helb	T	C	10: 119,941,272 (GRCm39)	H472R	probably damaging	Het
Herc1	T	G	9: 66,373,952 (GRCm39)	V3197G	probably damaging	Het
Herc2	C	A	7: 55,854,231 (GRCm39)	N3712K	probably benign	Het
Herc6	T	C	6: 57,560,227 (GRCm39)	V89A	possibly damaging	Het
Hspa1l	A	G	17: 35,196,599 (GRCm39)	T213A	probably benign	Het
Kcna7	T	C	7: 45,058,855 (GRCm39)	S381P	probably damaging	Het
Kif19a	C	A	11: 114,671,613 (GRCm39)	P164Q	probably damaging	Het
Macf1	A	G	4: 123,368,195 (GRCm39)	S2189P	probably benign	Het
Mpo	A	G	11: 87,688,328 (GRCm39)	N329S	probably damaging	Het
Mrps15	A	G	4: 125,942,479 (GRCm39)	Y76C	probably damaging	Het
Or51a42	T	A	7: 103,708,252 (GRCm39)	M186L	probably benign	Het
Or6c75	T	C	10: 129,337,593 (GRCm39)	V280A	probably damaging	Het
Prdm2	T	C	4: 142,858,773 (GRCm39)	R1506G	possibly damaging	Het
Ptprb	A	T	10: 116,138,030 (GRCm39)	Q311H	possibly damaging	Het
Ptprb	T	C	10: 116,175,415 (GRCm39)	Y1137H	probably damaging	Het
Scaf8	A	G	17: 3,246,049 (GRCm39)		probably null	Het
Slc25a1	A	T	16: 17,745,145 (GRCm39)	F105Y	probably benign	Het
Slc29a4	T	C	5: 142,704,327 (GRCm39)	V327A	probably benign	Het
Spmip3	A	G	1: 177,568,571 (GRCm39)	T23A	probably benign	Het
Tmed10	A	G	12: 85,390,279 (GRCm39)	F195L	probably benign	Het
Tmem45a2	T	A	16: 56,865,732 (GRCm39)	I151F	probably benign	Het
Vmn2r93	C	A	17: 18,525,279 (GRCm39)	F312L	possibly damaging	Het
Zfp326	A	G	5: 106,026,663 (GRCm39)		probably null	Het

Other mutations in Fbxo44

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
trompo	UTSW	4	148,240,461 (GRCm39)	missense	probably benign
R0040:Fbxo44	UTSW	4	148,243,152 (GRCm39)	missense	probably damaging	1.00
R0737:Fbxo44	UTSW	4	148,243,266 (GRCm39)	utr 5 prime	probably benign
R0899:Fbxo44	UTSW	4	148,240,726 (GRCm39)	missense	probably damaging	1.00
R1169:Fbxo44	UTSW	4	148,240,433 (GRCm39)	missense	probably benign	0.01
R1423:Fbxo44	UTSW	4	148,240,726 (GRCm39)	missense	probably damaging	1.00
R1889:Fbxo44	UTSW	4	148,240,726 (GRCm39)	missense	probably damaging	1.00
R1895:Fbxo44	UTSW	4	148,240,726 (GRCm39)	missense	probably damaging	1.00
R3712:Fbxo44	UTSW	4	148,240,461 (GRCm39)	missense	probably benign
R3774:Fbxo44	UTSW	4	148,241,051 (GRCm39)	missense	probably damaging	1.00
R3834:Fbxo44	UTSW	4	148,240,707 (GRCm39)	missense	probably damaging	1.00
R4411:Fbxo44	UTSW	4	148,238,065 (GRCm39)	missense	probably damaging	1.00
R4810:Fbxo44	UTSW	4	148,240,903 (GRCm39)	missense	probably damaging	1.00
R5086:Fbxo44	UTSW	4	148,240,669 (GRCm39)	missense	probably benign	0.00
R5108:Fbxo44	UTSW	4	148,243,020 (GRCm39)	missense	probably damaging	1.00
R5344:Fbxo44	UTSW	4	148,238,030 (GRCm39)	missense	probably damaging	0.98
R5423:Fbxo44	UTSW	4	148,238,686 (GRCm39)	missense	probably benign	0.00
R5930:Fbxo44	UTSW	4	148,241,052 (GRCm39)	missense	probably damaging	1.00
R6017:Fbxo44	UTSW	4	148,243,010 (GRCm39)	missense	probably benign	0.17
R6132:Fbxo44	UTSW	4	148,240,565 (GRCm39)	missense	probably benign	0.10
R6498:Fbxo44	UTSW	4	148,238,882 (GRCm39)
R7085:Fbxo44	UTSW	4	148,243,200 (GRCm39)	missense	probably damaging	0.98
R7142:Fbxo44	UTSW	4	148,243,269 (GRCm39)	missense	unknown
R7374:Fbxo44	UTSW	4	148,241,094 (GRCm39)	missense	probably benign	0.21
R7679:Fbxo44	UTSW	4	148,238,089 (GRCm39)	missense	probably benign	0.43
R8306:Fbxo44	UTSW	4	148,243,089 (GRCm39)	missense	probably benign	0.42
R8899:Fbxo44	UTSW	4	148,238,078 (GRCm39)	nonsense	probably null
X0017:Fbxo44	UTSW	4	148,240,680 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCGACTCTGTTGTCTAAGCTGGAAG -3'
(R):5'- TGGACCTCAAGGCTGAAGGGTATTG -3'

Sequencing Primer
(F):5'- TGTCTAAGCTGGAAGCTTACTC -3'
(R):5'- GCCCCCTATCTCCCAGG -3'

Posted On

2013-11-08