Mutagenetix > Incidental Mutation

Incidental Mutation 'R2483:Btrc'

250741

Institutional Source

Beutler Lab

Gene Symbol

Btrc

Ensembl Gene

ENSMUSG00000025217

Gene Name

beta-transducin repeat containing protein

Synonyms

Beta-Trcp1, Fbw1a, SCF b-TRCP, beta-TrCP, Slimb

MMRRC Submission

040407-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2483 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45352173-45518452 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45504497 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 397 (D397G)

Ref Sequence

ENSEMBL: ENSMUSP00000107567 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065601] [ENSMUST00000111936] [ENSMUST00000224478]

AlphaFold

Q3ULA2

Predicted Effect

probably damaging
Transcript: ENSMUST00000065601
AA Change: D433G

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

SMART Domains

Protein: ENSMUSP00000070728
Gene: ENSMUSG00000025217
AA Change: D433G

Domain	Start	End	E-Value	Type
Beta-TrCP_D	138	177	3.32e-25	SMART
FBOX	189	228	5.83e-6	SMART
WD40	292	329	7.92e-3	SMART
WD40	332	369	8.68e-9	SMART
WD40	372	409	5.31e-4	SMART
WD40	415	452	5.18e-7	SMART
WD40	455	492	3.93e-7	SMART
WD40	495	532	8.42e-7	SMART
WD40	544	581	4.62e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000111936
AA Change: D397G

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

SMART Domains

Protein: ENSMUSP00000107567
Gene: ENSMUSG00000025217
AA Change: D397G

Domain	Start	End	E-Value	Type
Beta-TrCP_D	102	141	3.32e-25	SMART
FBOX	153	192	5.83e-6	SMART
WD40	256	293	7.92e-3	SMART
WD40	296	333	8.68e-9	SMART
WD40	336	373	5.31e-4	SMART
WD40	379	416	5.18e-7	SMART
WD40	419	456	3.93e-7	SMART
WD40	459	496	8.42e-7	SMART
WD40	508	545	4.62e-4	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000224478
AA Change: D334G

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225662

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.6%

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 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 Fbws class; in addition to an F-box, this protein contains multiple WD-40 repeats. The encoded protein mediates degradation of CD4 via its interaction with HIV-1 Vpu. It has also been shown to ubiquitinate phosphorylated NFKBIA (nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha), targeting it for degradation and thus activating nuclear factor kappa-B. Alternatively spliced transcript variants have been described. A related pseudogene exists in chromosome 6. [provided by RefSeq, Mar 2012]
PHENOTYPE: Embryonic fibroblasts from homozygotes show an increase in polyploidy and apoptosis and decreased cell proliferation. In a second allele, homozygous mutation results in reduced male fertility and abnormal male meiosis with oligozoospermia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	A	G	11: 7,080,348 (GRCm39)	T364A	probably benign	Het
Adpgk	G	A	9: 59,221,036 (GRCm39)	V281I	probably benign	Het
Akap9	C	A	5: 4,026,235 (GRCm39)	Q1297K	possibly damaging	Het
Ankrd13d	T	C	19: 4,331,968 (GRCm39)	E110G	probably damaging	Het
Ankrd53	A	G	6: 83,740,244 (GRCm39)	E104G	possibly damaging	Het
Ano6	A	T	15: 95,863,855 (GRCm39)	T792S	probably benign	Het
Atm	A	T	9: 53,421,566 (GRCm39)	V715D	probably damaging	Het
Avl9	A	G	6: 56,713,828 (GRCm39)	D362G	probably benign	Het
Bin1	T	A	18: 32,547,280 (GRCm39)	S152R	probably damaging	Het
Bscl2	T	A	19: 8,818,514 (GRCm39)	C40S	probably benign	Het
Btaf1	A	G	19: 36,958,486 (GRCm39)	T668A	probably benign	Het
Cables2	A	T	2: 179,902,222 (GRCm39)	V379E	probably damaging	Het
Cacna2d2	T	C	9: 107,389,221 (GRCm39)	L228P	probably damaging	Het
Cd109	A	T	9: 78,574,639 (GRCm39)	D541V	probably damaging	Het
Cdh26	A	T	2: 178,108,382 (GRCm39)	S327C	probably damaging	Het
Cep78	T	C	19: 15,938,344 (GRCm39)	K535E	probably damaging	Het
Ces1a	A	G	8: 93,753,969 (GRCm39)	Y345H	probably damaging	Het
Col6a5	C	A	9: 105,741,347 (GRCm39)	R2524I	probably damaging	Het
Cracd	A	T	5: 77,004,256 (GRCm39)	I206F	probably damaging	Het
Dctn1	G	A	6: 83,171,169 (GRCm39)	R661H	probably damaging	Het
Ddias	T	C	7: 92,508,800 (GRCm39)	T372A	probably benign	Het
Dffb	T	C	4: 154,049,976 (GRCm39)	T296A	probably damaging	Het
Dock8	A	G	19: 25,057,241 (GRCm39)	Q216R	probably benign	Het
Emx1	T	C	6: 85,165,237 (GRCm39)	S105P	probably benign	Het
Ep400	T	C	5: 110,867,102 (GRCm39)	Y1014C	unknown	Het
Fam193a	A	T	5: 34,623,102 (GRCm39)	K1230M	possibly damaging	Het
Fgf9	A	G	14: 58,347,028 (GRCm39)	Q207R	probably benign	Het
Gm5460	G	A	14: 33,767,775 (GRCm39)	C461Y	possibly damaging	Het
Gpc1	T	C	1: 92,783,660 (GRCm39)	I249T	probably benign	Het
Htr1d	T	C	4: 136,170,815 (GRCm39)	I348T	probably damaging	Het
Hyal4	A	T	6: 24,765,737 (GRCm39)	S364C	probably damaging	Het
Igfn1	T	C	1: 135,897,275 (GRCm39)	E1097G	probably benign	Het
Igkv1-133	A	T	6: 67,701,944 (GRCm39)	Q16L	probably benign	Het
Kcnh5	A	T	12: 75,161,245 (GRCm39)	I221N	probably damaging	Het
Kmt2a	A	G	9: 44,760,263 (GRCm39)	Y529H	probably damaging	Het
Kyat1	T	C	2: 30,076,710 (GRCm39)	H218R	possibly damaging	Het
Lamb2	T	G	9: 108,357,758 (GRCm39)	C94G	probably damaging	Het
Met	A	T	6: 17,549,085 (GRCm39)	D979V	probably damaging	Het
Midn	A	G	10: 79,986,144 (GRCm39)	D78G	probably benign	Het
Myh1	A	T	11: 67,102,052 (GRCm39)	M811L	probably benign	Het
Myh7	T	C	14: 55,210,838 (GRCm39)	E1693G	probably damaging	Het
Myo15b	A	G	11: 115,755,565 (GRCm39)	T979A	probably benign	Het
Myo18b	A	T	5: 113,006,274 (GRCm39)	C879S	probably damaging	Het
Myom1	A	G	17: 71,384,807 (GRCm39)	T733A	probably damaging	Het
Ndufa9	A	T	6: 126,821,362 (GRCm39)	M76K	possibly damaging	Het
Nectin3	A	G	16: 46,215,542 (GRCm39)	C74R	possibly damaging	Het
Obscn	A	G	11: 58,970,972 (GRCm39)	F2514L	probably damaging	Het
Or4a69	G	A	2: 89,313,471 (GRCm39)	Q3*	probably null	Het
Or52d3	T	C	7: 104,229,149 (GRCm39)	S99P	probably damaging	Het
Or5p81	CAAATA	CA	7: 108,266,869 (GRCm39)		probably null	Het
P2ry2	A	T	7: 100,647,706 (GRCm39)	S200T	probably benign	Het
Pcdha5	G	T	18: 37,094,542 (GRCm39)	M350I	probably benign	Het
Pcdha5	G	A	18: 37,094,834 (GRCm39)	V448M	probably damaging	Het
Pex12	C	T	11: 83,188,455 (GRCm39)	R180H	possibly damaging	Het
Pip4p1	C	G	14: 51,167,749 (GRCm39)	V59L	probably damaging	Het
Pkd1l1	A	T	11: 8,912,701 (GRCm39)	V168E	probably damaging	Het
Prokr2	T	A	2: 132,223,095 (GRCm39)	D149V	probably damaging	Het
Rnf123	A	G	9: 107,940,720 (GRCm39)	V707A	probably benign	Het
Ryr2	T	C	13: 11,774,589 (GRCm39)	E1189G	probably damaging	Het
Scarf1	T	C	11: 75,406,117 (GRCm39)	F134L	probably damaging	Het
Sfxn5	A	G	6: 85,309,260 (GRCm39)		probably null	Het
Shfl	A	T	9: 20,784,473 (GRCm39)	I186F	possibly damaging	Het
Skic3	A	G	13: 76,330,986 (GRCm39)	E1472G	probably damaging	Het
Slc17a5	A	T	9: 78,445,556 (GRCm39)	V433D	probably damaging	Het
Snapc1	A	G	12: 74,011,417 (GRCm39)	T28A	probably benign	Het
Soat1	T	C	1: 156,258,669 (GRCm39)	Y528C	probably damaging	Het
Spem1	G	A	11: 69,712,344 (GRCm39)	R107C	possibly damaging	Het
Srcap	T	C	7: 127,141,319 (GRCm39)	S1639P	probably damaging	Het
Sycp2	A	T	2: 178,016,388 (GRCm39)	N691K	probably damaging	Het
Syne2	A	T	12: 76,142,311 (GRCm39)	I6183F	probably damaging	Het
Tas2r110	A	T	6: 132,845,433 (GRCm39)	M155L	probably benign	Het
Tenm3	G	A	8: 48,693,305 (GRCm39)	T1859I	probably damaging	Het
Thsd7b	T	A	1: 130,030,809 (GRCm39)	V1048D	probably damaging	Het
Vav3	T	C	3: 109,248,482 (GRCm39)	L43P	probably damaging	Het
Vmn1r30	A	T	6: 58,412,437 (GRCm39)	F132I	probably benign	Het
Vmn2r24	A	G	6: 123,792,997 (GRCm39)	R775G	probably damaging	Het
Vps13c	T	A	9: 67,883,189 (GRCm39)		probably null	Het
Vps37c	T	A	19: 10,683,569 (GRCm39)		probably null	Het
Wwp2	A	G	8: 108,275,167 (GRCm39)	D388G	probably damaging	Het
Xirp2	A	T	2: 67,355,336 (GRCm39)	T3366S	probably benign	Het
Zbtb49	A	C	5: 38,360,701 (GRCm39)		probably benign	Het

Other mutations in Btrc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00502:Btrc	APN	19	45,515,704 (GRCm39)	missense	probably damaging	0.99
IGL01691:Btrc	APN	19	45,501,117 (GRCm39)	missense	probably benign	0.00
IGL02551:Btrc	APN	19	45,411,573 (GRCm39)	missense	possibly damaging	0.83
IGL02719:Btrc	APN	19	45,491,589 (GRCm39)	missense	probably damaging	1.00
IGL02852:Btrc	APN	19	45,501,095 (GRCm39)	nonsense	probably null
IGL03128:Btrc	APN	19	45,501,959 (GRCm39)	missense	probably damaging	1.00
IGL03267:Btrc	APN	19	45,507,262 (GRCm39)	missense	probably damaging	1.00
R0145:Btrc	UTSW	19	45,411,612 (GRCm39)	missense	probably damaging	0.97
R0750:Btrc	UTSW	19	45,491,585 (GRCm39)	missense	probably damaging	1.00
R1466:Btrc	UTSW	19	45,501,821 (GRCm39)	splice site	probably benign
R1584:Btrc	UTSW	19	45,501,821 (GRCm39)	splice site	probably benign
R1772:Btrc	UTSW	19	45,501,100 (GRCm39)	missense	probably damaging	0.98
R1882:Btrc	UTSW	19	45,515,839 (GRCm39)	missense	probably damaging	1.00
R1959:Btrc	UTSW	19	45,515,782 (GRCm39)	missense	probably damaging	1.00
R1961:Btrc	UTSW	19	45,515,782 (GRCm39)	missense	probably damaging	1.00
R4365:Btrc	UTSW	19	45,501,919 (GRCm39)	missense	probably damaging	1.00
R4812:Btrc	UTSW	19	45,411,603 (GRCm39)	missense	possibly damaging	0.83
R4883:Btrc	UTSW	19	45,445,026 (GRCm39)	missense	probably benign	0.09
R5321:Btrc	UTSW	19	45,496,197 (GRCm39)	missense	probably damaging	1.00
R7203:Btrc	UTSW	19	45,501,967 (GRCm39)	splice site	probably null
R7528:Btrc	UTSW	19	45,491,525 (GRCm39)	missense	possibly damaging	0.95
R8737:Btrc	UTSW	19	45,496,198 (GRCm39)	missense	probably damaging	1.00
R9603:Btrc	UTSW	19	45,459,526 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGCAGGTGAGATGCTAAACAC -3'
(R):5'- GCCGTCATTAAGCTACACCTC -3'

Sequencing Primer
(F):5'- GCTAAACACATTGATTCACCACTGTG -3'
(R):5'- CCAGCCCATAACCATTGTTTATAG -3'

Posted On

2014-12-04