Mutagenetix > Incidental Mutation

Incidental Mutation 'R3834:Fbxo44'

275530

Institutional Source

Beutler Lab

Gene Symbol

Fbxo44

Ensembl Gene

ENSMUSG00000029001

Gene Name

F-box protein 44

Synonyms

Fbx6a, Fbxo6a, FBG3, FBX30

MMRRC Submission

040889-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3834 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

148237256-148244663 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 148240707 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 227 (Y227H)

Ref Sequence

ENSEMBL: ENSMUSP00000134624 (fasta)

Gene Model

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

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: Y174H

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

SMART Domains

Protein: ENSMUSP00000054022
Gene: ENSMUSG00000029001
AA Change: Y174H

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: V132A

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000101330
Gene: ENSMUSG00000029001
AA Change: V132A

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: Y174H

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

SMART Domains

Protein: ENSMUSP00000134064
Gene: ENSMUSG00000029001
AA Change: Y174H

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: Y227H

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

SMART Domains

Protein: ENSMUSP00000134624
Gene: ENSMUSG00000029001
AA Change: Y227H

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: ENSMUST00000129253
AA Change: Y174H

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

SMART Domains

Protein: ENSMUSP00000117013
Gene: ENSMUSG00000029001
AA Change: Y174H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000151246
AA Change: Y174H

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

SMART Domains

Protein: ENSMUSP00000114571
Gene: ENSMUSG00000029001
AA Change: Y174H

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: Y174H

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

SMART Domains

Protein: ENSMUSP00000126551
Gene: ENSMUSG00000029001
AA Change: Y174H

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

Predicted Effect

unknown
Transcript: ENSMUST00000153703
AA Change: Y106H

SMART Domains

Protein: ENSMUSP00000115937
Gene: ENSMUSG00000029001
AA Change: Y106H

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: 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

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: 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

Meta Mutation Damage Score

0.9118

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

100% (44/44)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adh6a	G	A	3: 138,033,275 (GRCm39)		probably null	Het
Bptf	T	C	11: 106,964,683 (GRCm39)	T1389A	probably benign	Het
Cfap54	A	G	10: 92,636,985 (GRCm39)		probably benign	Het
Cimip3	AC	A	17: 47,744,348 (GRCm39)		probably benign	Het
Coq5	G	T	5: 115,422,635 (GRCm39)	G180W	probably damaging	Het
Cyp2d34	A	G	15: 82,500,947 (GRCm39)		probably null	Het
Cyp2j13	C	T	4: 95,944,794 (GRCm39)		probably null	Het
Fam114a1	C	T	5: 65,163,416 (GRCm39)	T197I	possibly damaging	Het
Gm5114	T	A	7: 39,058,161 (GRCm39)	H486L	possibly damaging	Het
Grik4	T	C	9: 42,540,419 (GRCm39)	R254G	probably benign	Het
Iqcm	T	C	8: 76,304,380 (GRCm39)	I47T	possibly damaging	Het
Kif20b	A	G	19: 34,912,428 (GRCm39)	Y278C	probably damaging	Het
Lbhd1	G	A	19: 8,861,421 (GRCm39)	C43Y	probably benign	Het
Lrfn5	T	A	12: 61,886,816 (GRCm39)	D201E	probably damaging	Het
Map1a	G	A	2: 121,137,803 (GRCm39)	G2635D	probably damaging	Het
Ms4a4a	A	T	19: 11,356,219 (GRCm39)	M35L	probably benign	Het
Muc5b	A	T	7: 141,412,918 (GRCm39)	I1955F	unknown	Het
Mug2	T	C	6: 122,026,746 (GRCm39)		probably null	Het
Nav2	T	A	7: 49,195,606 (GRCm39)	I994N	possibly damaging	Het
Ngly1	T	C	14: 16,290,766 (GRCm38)		probably benign	Het
Nr1i2	T	C	16: 38,074,291 (GRCm39)		probably null	Het
Or51f5	A	G	7: 102,424,493 (GRCm39)	Y254C	probably damaging	Het
Or52h9	T	A	7: 104,202,552 (GRCm39)	V142D	probably benign	Het
Or5p69	A	T	7: 107,967,279 (GRCm39)	D194V	probably damaging	Het
Oxct2a	C	T	4: 123,216,266 (GRCm39)	V372I	probably benign	Het
Pax6	G	A	2: 105,526,795 (GRCm39)	E234K	probably benign	Het
Pramel14	T	A	4: 143,720,796 (GRCm39)	K48N	probably benign	Het
Prkdc	A	G	16: 15,609,810 (GRCm39)	E3138G	probably damaging	Het
Ptprc	T	A	1: 138,011,305 (GRCm39)	N584I	probably damaging	Het
Ptprt	A	G	2: 161,389,307 (GRCm39)	V1261A	probably damaging	Het
Rps20	A	T	4: 3,834,610 (GRCm39)	I84N	probably damaging	Het
Scd3	A	G	19: 44,230,156 (GRCm39)	Y313C	probably damaging	Het
Sertad2	T	C	11: 20,598,482 (GRCm39)	I226T	probably benign	Het
Slc15a2	A	T	16: 36,592,490 (GRCm39)	C191*	probably null	Het
Slco1a1	G	T	6: 141,889,163 (GRCm39)	Q50K	possibly damaging	Het
Stab2	A	T	10: 86,785,776 (GRCm39)	I622N	possibly damaging	Het
Tmc4	C	T	7: 3,675,006 (GRCm39)	V222M	probably benign	Het
Tmem145	T	C	7: 25,010,786 (GRCm39)	F359L	probably damaging	Het
Tmem238	C	A	7: 4,792,078 (GRCm39)	R155L	possibly damaging	Het
Vmn1r32	C	A	6: 66,530,647 (GRCm39)	C43F	probably benign	Het
Vmn2r104	C	T	17: 20,250,183 (GRCm39)	R696K	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
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
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'- TCTGTTGTCTAAGCTGGAAGC -3'
(R):5'- CTCAAGGCTGAAGGGTATTGG -3'

Sequencing Primer
(F):5'- GCTGGAAGCTTACTCCTATTCTTC -3'
(R):5'- TATCTCCCAGGTCTTCACAG -3'

Posted On

2015-04-06