Mutagenetix > Incidental Mutation

Incidental Mutation 'R7374:Fbxo44'

572261

Institutional Source

Beutler Lab

Gene Symbol

Fbxo44

Ensembl Gene

ENSMUSG00000029001

Gene Name

F-box protein 44

Synonyms

Fbx6a, Fbxo6a, FBG3, FBX30

MMRRC Submission

045457-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7374 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

148237256-148244663 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 148241094 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 112 (D112V)

Ref Sequence

ENSEMBL: ENSMUSP00000134064 (fasta)

Gene Model

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

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
AA Change: D112V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000054022
Gene: ENSMUSG00000029001
AA Change: D112V

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105705
AA Change: D112V

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000101330
Gene: ENSMUSG00000029001
AA Change: D112V

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: D112V

PolyPhen 2 Score 0.212 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000134064
Gene: ENSMUSG00000029001
AA Change: D112V

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: ENSMUST00000129253
AA Change: D112V

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000117013
Gene: ENSMUSG00000029001
AA Change: D112V

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: 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: ENSMUST00000151246
AA Change: D112V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000114571
Gene: ENSMUSG00000029001
AA Change: D112V

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: 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

SMART Domains

Protein: ENSMUSP00000115937
Gene: ENSMUSG00000029001
AA Change: D44V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000167160
AA Change: D112V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000126551
Gene: ENSMUSG00000029001
AA Change: D112V

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: 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: ENSMUST00000172472
AA Change: D112V

PolyPhen 2 Score 0.354 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000133966
Gene: ENSMUSG00000029001
AA Change: D112V

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: ENSMUST00000173352
AA Change: D165V

PolyPhen 2 Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000134624
Gene: ENSMUSG00000029001
AA Change: D165V

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,242,136 (GRCm39)	T1333I	possibly damaging	Het
Abcd4	A	T	12: 84,653,017 (GRCm39)	L395*	probably null	Het
Cdh23	G	A	10: 60,153,679 (GRCm39)	R2304W	probably damaging	Het
Ckap2l	T	C	2: 129,126,883 (GRCm39)	T432A	probably damaging	Het
Cplane1	T	A	15: 8,276,731 (GRCm39)	W2792R	unknown	Het
Cyp2c68	T	C	19: 39,727,648 (GRCm39)		probably null	Het
Ddx51	C	A	5: 110,804,998 (GRCm39)	T580K	probably damaging	Het
Ffar2	T	C	7: 30,519,465 (GRCm39)	N25S	probably damaging	Het
Gas6	A	T	8: 13,524,802 (GRCm39)	V330D	probably damaging	Het
Gfpt1	A	G	6: 87,027,959 (GRCm39)	T22A	probably benign	Het
Gm3371	A	G	14: 44,641,240 (GRCm39)	V108A		Het
Gm8257	T	C	14: 44,887,740 (GRCm39)	E215G	probably benign	Het
Gria1	T	A	11: 57,080,634 (GRCm39)	S206T	probably benign	Het
Gria2	T	C	3: 80,648,383 (GRCm39)	T118A	probably benign	Het
Hfe	T	G	13: 23,890,030 (GRCm39)	T248P	probably damaging	Het
Kdm5d	T	C	Y: 941,491 (GRCm39)	W1231R	probably benign	Het
Ltbp2	C	T	12: 84,876,949 (GRCm39)	D419N	probably damaging	Het
Mei1	G	A	15: 81,980,109 (GRCm39)	A232T		Het
Mgam	G	A	6: 40,734,373 (GRCm39)	E1473K	possibly damaging	Het
Mtbp	A	C	15: 55,426,355 (GRCm39)	E99A	possibly damaging	Het
Muc5b	A	T	7: 141,416,863 (GRCm39)	T3270S	probably benign	Het
Myl2	A	G	5: 122,239,726 (GRCm39)	Y28C		Het
Nrxn1	A	G	17: 90,896,097 (GRCm39)		probably null	Het
Ntn4	A	G	10: 93,518,434 (GRCm39)	H247R	probably benign	Het
Numa1	T	C	7: 101,658,335 (GRCm39)	V1568A	probably benign	Het
Nyap1	C	T	5: 137,733,791 (GRCm39)	G414D	probably damaging	Het
Or5p68	A	G	7: 107,946,095 (GRCm39)	F31S	probably damaging	Het
Or8k25	C	A	2: 86,244,196 (GRCm39)	A67S	probably benign	Het
Pdgfrb	G	A	18: 61,204,780 (GRCm39)	V547I	possibly damaging	Het
Pom121l12	A	T	11: 14,549,962 (GRCm39)	M223L	probably benign	Het
Prps1l1	T	C	12: 35,035,424 (GRCm39)	S180P	possibly damaging	Het
Ptprf	A	G	4: 118,114,689 (GRCm39)	S189P	probably damaging	Het
Radil	G	A	5: 142,471,235 (GRCm39)	R1014W	probably damaging	Het
Rfx5	C	T	3: 94,866,053 (GRCm39)	P451S	unknown	Het
Rhbdl2	G	C	4: 123,711,658 (GRCm39)	V132L	probably benign	Het
Slc15a2	G	T	16: 36,572,207 (GRCm39)	T719K	probably benign	Het
Slc9a9	A	G	9: 94,937,542 (GRCm39)	T465A	possibly damaging	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Sv2a	A	T	3: 96,095,525 (GRCm39)	Y306F	probably benign	Het
Sv2c	A	T	13: 96,125,644 (GRCm39)	H364Q	probably damaging	Het
Tmem181a	T	A	17: 6,354,533 (GRCm39)	L401Q	possibly damaging	Het
Trav9d-4	A	G	14: 53,221,300 (GRCm39)	Y98C	probably damaging	Het
Trim33	T	A	3: 103,217,639 (GRCm39)	C195S	probably damaging	Het
Uroc1	T	C	6: 90,315,815 (GRCm39)	Y191H	probably damaging	Het
Usp9y	T	C	Y: 1,381,305 (GRCm39)	I839V	probably benign	Het
Vmn1r52	A	T	6: 90,156,118 (GRCm39)	I141F	probably benign	Het
Vmn1r59	T	C	7: 5,457,160 (GRCm39)	H200R	probably damaging	Het
Vmn2r68	A	T	7: 84,881,607 (GRCm39)	M491K	possibly damaging	Het
Vmn2r74	T	C	7: 85,606,630 (GRCm39)	I239V	probably benign	Het
Wrn	A	C	8: 33,758,939 (GRCm39)	C1006W	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
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
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'- AATACCCTTCAGCCTTGAGGTC -3'
(R):5'- TGGCACACAGAAGCATCCAG -3'

Sequencing Primer
(F):5'- TCCACCACCTGGGACTTGAG -3'
(R):5'- CTACAACACACGGGCTGTAGG -3'

Posted On

2019-09-13