Mutagenetix > Incidental Mutation

Incidental Mutation 'R0899:Fbxo44'

83784

Institutional Source

Beutler Lab

Gene Symbol

Fbxo44

Ensembl Gene

ENSMUSG00000029001

Gene Name

F-box protein 44

Synonyms

Fbx6a, Fbxo6a, FBG3, FBX30

MMRRC Submission

039059-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0899 (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: 99.7%
3x: 99.0%
10x: 97.2%
20x: 93.6%

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	T	C	15: 84,833,459 (GRCm39)	K442E	probably damaging	Het
Adamts1	G	A	16: 85,594,940 (GRCm39)	R340*	probably null	Het
Afg3l2	T	C	18: 67,556,047 (GRCm39)	N428S	possibly damaging	Het
Aqp12	G	A	1: 92,934,332 (GRCm39)	D70N	probably damaging	Het
Astn1	T	A	1: 158,338,679 (GRCm39)	C475*	probably null	Het
Atp2b1	G	A	10: 98,852,893 (GRCm39)		probably null	Het
Cbln2	T	C	18: 86,734,877 (GRCm39)	S217P	possibly damaging	Het
Ces2h	T	C	8: 105,741,182 (GRCm39)	L58P	probably damaging	Het
Cfap43	C	T	19: 47,736,433 (GRCm39)	G1353R	possibly damaging	Het
Crcp	A	G	5: 130,088,672 (GRCm39)	M91V	probably benign	Het
Cubn	A	G	2: 13,367,139 (GRCm39)	V1577A	possibly damaging	Het
Dthd1	A	G	5: 63,000,271 (GRCm39)	H531R	probably benign	Het
Fam120a	G	T	13: 49,039,219 (GRCm39)	A979E	possibly damaging	Het
Fam3d	A	G	14: 8,364,863 (GRCm38)	I16T	probably damaging	Het
Fat2	C	T	11: 55,147,051 (GRCm39)	G3982S	probably damaging	Het
Fcnb	T	A	2: 27,966,791 (GRCm39)	K247N	probably damaging	Het
Gtf2a1l	A	G	17: 88,976,152 (GRCm39)	N5S		Het
Htr3a	T	A	9: 48,812,752 (GRCm39)	D229V	possibly damaging	Het
Ipo11	A	C	13: 107,037,324 (GRCm39)	L173*	probably null	Het
Jam3	C	A	9: 27,010,253 (GRCm39)	G244W	probably damaging	Het
Lypd11	C	T	7: 24,422,737 (GRCm39)	R112H	probably benign	Het
Mrpl52	C	T	14: 54,664,541 (GRCm39)	R12*	probably null	Het
Myo15a	A	G	11: 60,368,011 (GRCm39)	Y257C	possibly damaging	Het
Myocd	G	A	11: 65,086,018 (GRCm39)	P215L	possibly damaging	Het
Ndst1	T	C	18: 60,840,954 (GRCm39)	T243A	probably benign	Het
Obox5	A	T	7: 15,492,800 (GRCm39)	T252S	probably benign	Het
Or5m13b	A	G	2: 85,753,731 (GRCm39)	T40A	probably benign	Het
Or6c75	T	C	10: 129,337,301 (GRCm39)	F183L	probably damaging	Het
Or7g34	A	C	9: 19,477,843 (GRCm39)	V276G	probably damaging	Het
Osbpl1a	T	C	18: 12,890,747 (GRCm39)	S377G	possibly damaging	Het
Pfkl	A	G	10: 77,841,273 (GRCm39)		probably null	Het
Prdm16	A	T	4: 154,613,366 (GRCm39)	N20K	probably damaging	Het
Prkd1	A	G	12: 50,431,976 (GRCm39)	I589T	probably damaging	Het
Scnn1b	G	A	7: 121,516,938 (GRCm39)	G525S	probably damaging	Het
Tktl2	G	A	8: 66,964,999 (GRCm39)	V186M	probably damaging	Het
Ttn	A	G	2: 76,718,329 (GRCm39)		probably benign	Het
Wap	T	C	11: 6,586,725 (GRCm39)	T125A	probably benign	Het
Wdr86	C	T	5: 24,923,005 (GRCm39)	R229Q	probably benign	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
R0850: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