Mutagenetix > Incidental Mutation

Incidental Mutation 'R6132:Fbxo44'

487169

Institutional Source

Beutler Lab

Gene Symbol

Fbxo44

Ensembl Gene

ENSMUSG00000029001

Gene Name

F-box protein 44

Synonyms

Fbx6a, Fbxo6a, FBG3, FBX30

MMRRC Submission

044279-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6132 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

148237256-148244663 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 148240565 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 221 (T221I)

Ref Sequence

ENSEMBL: ENSMUSP00000134064 (fasta)

Gene Model

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

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 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: ENSMUST00000151127
AA Change: T221I

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000134064
Gene: ENSMUSG00000029001
AA Change: T221I

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

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: 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: 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: ENSMUST00000129253

SMART Domains

Protein: ENSMUSP00000117013
Gene: ENSMUSG00000029001

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: ENSMUST00000132083

SMART Domains

Protein: ENSMUSP00000120431
Gene: ENSMUSG00000055401

Domain	Start	End	E-Value	Type
FBOX	7	48	1e-4	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: 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: ENSMUST00000153703

SMART Domains

Protein: ENSMUSP00000115937
Gene: ENSMUSG00000029001

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

96% (49/51)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	C	7: 119,960,643 (GRCm39)	Y702H	probably benign	Het
Adgrv1	G	T	13: 81,654,195 (GRCm39)	N2225K	probably benign	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Alkbh5	G	T	11: 60,428,821 (GRCm39)		probably benign	Het
Atp5mc1	A	G	11: 95,965,850 (GRCm39)	M1T	probably null	Het
Crebrf	C	T	17: 26,982,377 (GRCm39)	P588S	probably benign	Het
Ctsr	A	C	13: 61,309,582 (GRCm39)		probably null	Het
Cyp2c68	A	G	19: 39,691,858 (GRCm39)	V355A	possibly damaging	Het
Ddx52	A	G	11: 83,850,283 (GRCm39)	K555E	possibly damaging	Het
Depdc5	T	A	5: 33,067,811 (GRCm39)	S410T	probably damaging	Het
Dhx30	A	T	9: 109,914,847 (GRCm39)	I884N	probably damaging	Het
Dlg1	A	T	16: 31,655,059 (GRCm39)	N518I	possibly damaging	Het
Dnah12	T	A	14: 26,439,066 (GRCm39)	I506N	probably damaging	Het
Efcab6	A	G	15: 83,917,173 (GRCm39)	L129P	probably damaging	Het
Erap1	A	G	13: 74,808,401 (GRCm39)	N38D	probably benign	Het
Esf1	A	G	2: 140,001,699 (GRCm39)	F383L	probably benign	Het
Exoc4	A	G	6: 33,735,033 (GRCm39)	E550G	probably damaging	Het
Gal3st2b	A	T	1: 93,867,688 (GRCm39)	M112L	possibly damaging	Het
Golph3l	C	G	3: 95,499,145 (GRCm39)	P96A	probably benign	Het
Gprc6a	T	A	10: 51,491,356 (GRCm39)	I727F	possibly damaging	Het
Grin3b	T	C	10: 79,812,274 (GRCm39)	L479P	probably damaging	Het
Kdm5a	C	T	6: 120,351,892 (GRCm39)	H161Y	probably damaging	Het
Lman2	A	G	13: 55,510,038 (GRCm39)	S73P	probably benign	Het
Map3k19	T	C	1: 127,778,213 (GRCm39)	N4S	possibly damaging	Het
Mkln1	G	A	6: 31,408,155 (GRCm39)	V161M	probably damaging	Het
Mmel1	C	T	4: 154,979,475 (GRCm39)	H728Y	probably damaging	Het
Nova2	G	A	7: 18,691,794 (GRCm39)	A244T	unknown	Het
Nrcam	T	A	12: 44,617,007 (GRCm39)	Y668N	probably damaging	Het
Oacyl	G	T	18: 65,859,426 (GRCm39)	G255W	probably damaging	Het
Omd	A	C	13: 49,743,843 (GRCm39)	I298L	probably damaging	Het
Or5ac19	A	G	16: 59,089,367 (GRCm39)	V221A	probably damaging	Het
Or5ak24	A	T	2: 85,260,490 (GRCm39)	S228T	probably benign	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Otor	A	T	2: 142,920,520 (GRCm39)	D34V	probably damaging	Het
Otx1	A	T	11: 21,949,406 (GRCm39)	L24H	probably damaging	Het
Pwwp2a	A	G	11: 43,596,455 (GRCm39)	Y540C	probably damaging	Het
Rttn	T	A	18: 89,133,770 (GRCm39)		probably null	Het
S1pr4	G	A	10: 81,335,030 (GRCm39)	A148V	probably benign	Het
Scn10a	C	T	9: 119,442,761 (GRCm39)	V1495M	possibly damaging	Het
Sel1l3	T	C	5: 53,357,531 (GRCm39)	K154E	possibly damaging	Het
Sema3a	T	G	5: 13,573,142 (GRCm39)		probably null	Het
Slf2	T	A	19: 44,949,300 (GRCm39)	N870K	possibly damaging	Het
Spmip6	C	T	4: 41,517,160 (GRCm39)	M1I	probably null	Het
Syne2	T	C	12: 75,991,921 (GRCm39)	V1962A	probably benign	Het
Tarbp1	T	A	8: 127,161,548 (GRCm39)	I1219F	probably benign	Het
Tet1	A	C	10: 62,649,079 (GRCm39)	C173W	probably damaging	Het
Tnn	A	G	1: 159,973,641 (GRCm39)	F242S	probably damaging	Het
Tollip	A	G	7: 141,443,334 (GRCm39)	S174P	probably benign	Het
Tsr3	G	T	17: 25,460,835 (GRCm39)	D234Y	probably null	Het
Vmn2r106	T	C	17: 20,488,666 (GRCm39)	T578A	probably benign	Het
Zfp457	G	T	13: 67,441,360 (GRCm39)	S309*	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
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
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
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'- GGCAGTCTTTAGGCCCAGATATTTAC -3'
(R):5'- ACATCGAGGTCAAGGACTGGTG -3'

Sequencing Primer
(F):5'- ACTTACTTTTTAGCACTGGGGATG -3'
(R):5'- ATCTCCCAGGTCTTCACAGGG -3'

Posted On

2017-10-10