Mutagenetix > Incidental Mutation

Incidental Mutation 'R1423:Fbxo44'

161163

Institutional Source

Beutler Lab

Gene Symbol

Fbxo44

Ensembl Gene

ENSMUSG00000029001

Gene Name

F-box protein 44

Synonyms

Fbx6a, Fbxo6a, FBG3, FBX30

MMRRC Submission

039479-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1423 (G1)

Quality Score

163

Status

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: 98.9%
3x: 97.9%
10x: 95.0%
20x: 88.8%

Validation Efficiency

100% (48/48)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd13d	A	G	19: 4,331,097 (GRCm39)	S64P	probably damaging	Het
Armh4	T	C	14: 49,988,896 (GRCm39)	E691G	probably damaging	Het
Bag4	T	C	8: 26,258,302 (GRCm39)	S342G	probably damaging	Het
Bbs1	G	A	19: 4,944,291 (GRCm39)	T446I	probably benign	Het
Bmyc	A	G	2: 25,597,236 (GRCm39)	D100G	probably damaging	Het
Btbd7	T	C	12: 102,751,734 (GRCm39)	D1010G	possibly damaging	Het
Celsr3	A	T	9: 108,704,104 (GRCm39)	T196S	probably benign	Het
Crtam	C	A	9: 40,884,918 (GRCm39)	R161L	probably benign	Het
Cyp11b2	C	A	15: 74,724,979 (GRCm39)	G290V	probably damaging	Het
Edc4	C	T	8: 106,617,843 (GRCm39)		probably benign	Het
Exd1	A	T	2: 119,370,494 (GRCm39)		probably benign	Het
Fam120a	G	T	13: 49,039,219 (GRCm39)	A979E	possibly damaging	Het
Fbxo16	T	C	14: 65,524,623 (GRCm39)		probably benign	Het
Gabrb2	A	G	11: 42,420,298 (GRCm39)	N173S	probably damaging	Het
Gm13741	A	T	2: 87,486,674 (GRCm39)	I197K	possibly damaging	Het
Helb	T	A	10: 119,944,871 (GRCm39)	I222F	probably damaging	Het
Hesx1	A	T	14: 26,723,876 (GRCm39)	Q153L	probably null	Het
Isca1	T	C	13: 59,910,593 (GRCm39)	N33S	probably benign	Het
Itsn2	T	C	12: 4,723,572 (GRCm39)	V1142A	probably damaging	Het
Lama5	T	G	2: 179,837,434 (GRCm39)	T984P	probably damaging	Het
Lima1	T	A	15: 99,717,626 (GRCm39)	K127*	probably null	Het
Lmbrd1	T	A	1: 24,785,959 (GRCm39)	V418D	probably damaging	Het
Mertk	T	C	2: 128,620,883 (GRCm39)	V575A	probably damaging	Het
Mrps28	T	C	3: 8,965,184 (GRCm39)	H85R	probably benign	Het
Mrtfb	T	C	16: 13,230,105 (GRCm39)	V930A	possibly damaging	Het
Naip2	G	A	13: 100,291,386 (GRCm39)	T1184M	probably benign	Het
Naip2	C	T	13: 100,298,368 (GRCm39)	G556D	probably benign	Het
Naip2	TCCC	TCC	13: 100,291,355 (GRCm39)		probably benign	Het
Naip2	G	A	13: 100,291,380 (GRCm39)	S1186F	possibly damaging	Het
Nhlrc3	A	T	3: 53,369,836 (GRCm39)	L45H	probably damaging	Het
Or52e5	T	G	7: 104,719,226 (GRCm39)	M184R	probably damaging	Het
Or52u1	C	T	7: 104,237,682 (GRCm39)	R224*	probably null	Het
Or8s16	T	C	15: 98,211,324 (GRCm39)	T36A	probably damaging	Het
Parp14	G	A	16: 35,677,130 (GRCm39)	A946V	probably benign	Het
Pcdhb15	A	T	18: 37,606,975 (GRCm39)	D69V	probably damaging	Het
Pitpnm1	G	A	19: 4,162,392 (GRCm39)	R1074H	probably damaging	Het
Plb1	A	G	5: 32,450,601 (GRCm39)	N381D	probably benign	Het
Poc1b	T	C	10: 98,988,725 (GRCm39)	S247P	probably damaging	Het
Prl7b1	T	A	13: 27,786,110 (GRCm39)	N186I	probably damaging	Het
Riok1	T	C	13: 38,233,090 (GRCm39)	M241T	probably damaging	Het
Tigit	T	C	16: 43,469,395 (GRCm39)	E232G	probably benign	Het
Tpst2	T	A	5: 112,455,488 (GRCm39)	L9Q	probably benign	Het
Ttbk1	T	C	17: 46,757,080 (GRCm39)		probably benign	Het
Vmn1r3	A	T	4: 3,185,231 (GRCm39)	N25K	probably damaging	Het
Vmn2r121	T	A	X: 123,039,602 (GRCm39)	H522L	possibly damaging	Het
Vmn2r15	T	C	5: 109,441,093 (GRCm39)	Y255C	probably damaging	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
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

2014-03-14