Mutagenetix > Incidental Mutation

Incidental Mutation 'R5423:Fbxo44'

426696

Institutional Source

Beutler Lab

Gene Symbol

Fbxo44

Ensembl Gene

ENSMUSG00000029001

Gene Name

F-box protein 44

Synonyms

Fbx6a, Fbxo6a, FBG3, FBX30

MMRRC Submission

042989-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5423 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

148237256-148244663 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 148238686 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 213 (I213F)

Ref Sequence

ENSEMBL: ENSMUSP00000117013 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030858] [ENSMUST00000056965] [ENSMUST00000057907] [ENSMUST00000105705] [ENSMUST00000105706] [ENSMUST00000122913] [ENSMUST00000126615] [ENSMUST00000129253] [ENSMUST00000134261] [ENSMUST00000173352] [ENSMUST00000151246] [ENSMUST00000172472] [ENSMUST00000152098] [ENSMUST00000132083] [ENSMUST00000167160] [ENSMUST00000151127] [ENSMUST00000168503]

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: 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 benign
Transcript: ENSMUST00000057907

SMART Domains

Protein: ENSMUSP00000054022
Gene: ENSMUSG00000029001

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

SMART Domains

Protein: ENSMUSP00000101330
Gene: ENSMUSG00000029001

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 benign
Transcript: ENSMUST00000126615

SMART Domains

Protein: ENSMUSP00000120801
Gene: ENSMUSG00000055401

Domain	Start	End	E-Value	Type
FBOX	7	48	1e-4	SMART
FBA	66	237	1.39e-97	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000129253
AA Change: I213F

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000117013
Gene: ENSMUSG00000029001
AA Change: I213F

Domain	Start	End	E-Value	Type
FBOX	9	50	1.37e-2	SMART
FBA	68	213	1.15e-57	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: ENSMUST00000173352

SMART Domains

Protein: ENSMUSP00000134624
Gene: ENSMUSG00000029001

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

Predicted Effect

probably benign
Transcript: ENSMUST00000151246

SMART Domains

Protein: ENSMUSP00000114571
Gene: ENSMUSG00000029001

Domain	Start	End	E-Value	Type
FBOX	9	50	1.37e-2	SMART
FBA	68	231	1.43e-85	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: ENSMUST00000153703

SMART Domains

Protein: ENSMUSP00000115937
Gene: ENSMUSG00000029001

Domain	Start	End	E-Value	Type
FBA	1	143	3.11e-54	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: ENSMUST00000167160

SMART Domains

Protein: ENSMUSP00000126551
Gene: ENSMUSG00000029001

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: ENSMUST00000151127

SMART Domains

Protein: ENSMUSP00000134064
Gene: ENSMUSG00000029001

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

98% (60/61)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Adam22	C	A	5: 8,140,182 (GRCm39)	G202W	probably damaging	Het
Adamts9	A	G	6: 92,857,678 (GRCm39)	I289T	possibly damaging	Het
Ak4	T	G	4: 101,317,760 (GRCm39)	I110S	probably damaging	Het
Arhgap9	T	G	10: 127,165,418 (GRCm39)	I609S	probably damaging	Het
Arid4a	C	A	12: 71,116,634 (GRCm39)	S242*	probably null	Het
Ceacam1	T	G	7: 25,173,951 (GRCm39)	I235L	probably benign	Het
Chil3	T	C	3: 106,055,978 (GRCm39)	D365G	probably damaging	Het
Ckap2	A	C	8: 22,667,212 (GRCm39)	S216R	probably benign	Het
Cyp2e1	G	T	7: 140,350,031 (GRCm39)	V239L	probably benign	Het
Dnah7b	T	A	1: 46,397,431 (GRCm39)	M3954K	probably benign	Het
Ercc6l2	A	T	13: 64,020,072 (GRCm39)		probably benign	Het
Etv5	T	C	16: 22,202,404 (GRCm39)	D468G	probably damaging	Het
Gm5084	A	G	13: 60,360,356 (GRCm39)		noncoding transcript	Het
Gpr17	G	A	18: 32,080,694 (GRCm39)	T123I	probably damaging	Het
Grin3a	A	G	4: 49,770,376 (GRCm39)		probably benign	Het
H2-D1	T	G	17: 35,484,883 (GRCm39)	L248R	probably damaging	Het
Hmcn1	T	C	1: 150,577,723 (GRCm39)	I2013V	probably damaging	Het
Hp1bp3	A	T	4: 137,953,208 (GRCm39)	D84V	probably damaging	Het
Ift140	T	C	17: 25,252,059 (GRCm39)	F33S	probably damaging	Het
Inhbc	C	G	10: 127,193,296 (GRCm39)	C240S	probably damaging	Het
Iqgap1	T	A	7: 80,449,610 (GRCm39)	E62V	probably damaging	Het
Kcna4	G	A	2: 107,126,151 (GRCm39)	W295*	probably null	Het
Kdm4a	C	T	4: 117,996,105 (GRCm39)	A975T	probably damaging	Het
Lrrtm3	T	C	10: 63,923,931 (GRCm39)	D412G	possibly damaging	Het
Midn	A	C	10: 79,991,027 (GRCm39)	I346L	probably benign	Het
Ndufa10	C	T	1: 92,390,042 (GRCm39)	D259N	probably benign	Het
Nefh	C	A	11: 4,890,985 (GRCm39)	A545S	possibly damaging	Het
Prpf8	A	G	11: 75,399,784 (GRCm39)	Y2281C	probably damaging	Het
Psip1	G	A	4: 83,378,367 (GRCm39)		probably benign	Het
Ptpro	G	T	6: 137,419,705 (GRCm39)	A184S	probably damaging	Het
Rab37	T	A	11: 115,047,853 (GRCm39)	I65K	possibly damaging	Het
Rasgrp4	T	C	7: 28,844,561 (GRCm39)	L247P	probably damaging	Het
Rnf20	T	C	4: 49,644,620 (GRCm39)	V295A	probably damaging	Het
Serpina3g	A	G	12: 104,204,253 (GRCm39)		probably benign	Het
Shox2	A	G	3: 66,881,087 (GRCm39)		probably benign	Het
Skint6	T	G	4: 112,707,937 (GRCm39)	D977A	possibly damaging	Het
Slc25a23	C	T	17: 57,360,597 (GRCm39)	V248M	probably damaging	Het
Slco1a7	T	A	6: 141,690,188 (GRCm39)	K188N	probably damaging	Het
Smg1	A	T	7: 117,745,294 (GRCm39)	D3008E	possibly damaging	Het
St18	A	G	1: 6,872,840 (GRCm39)	S192G	possibly damaging	Het
Supt20	T	A	3: 54,616,746 (GRCm39)	V306E	probably damaging	Het
T	T	C	17: 8,660,597 (GRCm39)	Y403H	probably damaging	Het
Tars3	C	A	7: 65,333,567 (GRCm39)	N588K	probably benign	Het
Tmem132c	T	C	5: 127,640,907 (GRCm39)	V1026A	probably benign	Het
Trpv4	T	C	5: 114,774,506 (GRCm39)	T193A	probably benign	Het
Ubqln4	A	G	3: 88,470,506 (GRCm39)	N326S	probably damaging	Het
Uggt2	G	A	14: 119,256,898 (GRCm39)	T1112I	probably damaging	Het
Vasn	C	T	16: 4,466,284 (GRCm39)	P77L	probably benign	Het
Vps9d1	A	C	8: 123,974,704 (GRCm39)		probably null	Het
Washc4	C	A	10: 83,415,418 (GRCm39)	Q803K	possibly damaging	Het
Zcchc2	C	T	1: 105,958,430 (GRCm39)	T967I	probably damaging	Het
Zfp874a	G	A	13: 67,590,473 (GRCm39)	L404F	possibly damaging	Het
Zscan30	T	C	18: 24,104,773 (GRCm39)		noncoding transcript	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
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
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'- TTTTCGAGAAGAACAGAGGGAC -3'
(R):5'- ACTGCATCAACTTCCCTAGGG -3'

Sequencing Primer
(F):5'- ACAGAGCTGGGGGTGGG -3'
(R):5'- CTGATACAGGGTCTCATGTAGCC -3'

Posted On

2016-09-01