Mutagenetix > Incidental Mutation

Incidental Mutation 'R8737:Btrc'

663122

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

068584-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8737 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45352173-45518452 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45496198 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 211 (V211A)

Ref Sequence

ENSEMBL: ENSMUSP00000070728 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065601] [ENSMUST00000111936] [ENSMUST00000223684] [ENSMUST00000223764] [ENSMUST00000224478]

AlphaFold

Q3ULA2

Predicted Effect

probably damaging
Transcript: ENSMUST00000065601
AA Change: V211A

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

SMART Domains

Protein: ENSMUSP00000070728
Gene: ENSMUSG00000025217
AA Change: V211A

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: V175A

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

SMART Domains

Protein: ENSMUSP00000107567
Gene: ENSMUSG00000025217
AA Change: V175A

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

probably benign
Transcript: ENSMUST00000223684

Predicted Effect

probably benign
Transcript: ENSMUST00000223764

Predicted Effect

probably damaging
Transcript: ENSMUST00000224478
AA Change: V112A

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

Meta Mutation Damage Score

0.6160

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (67/67)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff3	T	A	1: 38,308,810 (GRCm39)	D375V	probably damaging	Het
Agfg1	C	G	1: 82,871,243 (GRCm39)	P492A	probably benign	Het
Asb13	T	C	13: 3,692,089 (GRCm39)	V23A	probably damaging	Het
Atxn1l	A	T	8: 110,460,230 (GRCm39)	C11S	probably damaging	Het
Bbs9	T	G	9: 22,590,244 (GRCm39)	S661A	probably benign	Het
Camk1g	T	C	1: 193,030,794 (GRCm39)		probably null	Het
Capn11	A	T	17: 45,943,801 (GRCm39)	L578I	probably benign	Het
Cd82	A	T	2: 93,252,239 (GRCm39)	I124N	probably damaging	Het
Cdkl4	G	T	17: 80,858,258 (GRCm39)	H120Q	probably benign	Het
Cftr	T	C	6: 18,319,728 (GRCm39)	V1393A	probably damaging	Het
Col14a1	A	T	15: 55,318,706 (GRCm39)	R1402*	probably null	Het
Col6a3	T	G	1: 90,727,747 (GRCm39)	Y1960S	probably benign	Het
Col9a1	A	T	1: 24,224,127 (GRCm39)	Y103F	unknown	Het
Cux1	A	G	5: 136,311,796 (GRCm39)	V1180A	probably damaging	Het
Cyp17a1	A	T	19: 46,658,166 (GRCm39)	C249S	probably benign	Het
Derl1	A	T	15: 57,755,568 (GRCm39)	W42R	probably benign	Het
Dhx36	C	A	3: 62,386,747 (GRCm39)	M668I	probably benign	Het
Dnah6	T	C	6: 73,044,428 (GRCm39)	K3228E	possibly damaging	Het
Dst	C	T	1: 34,267,750 (GRCm39)	A3050V	probably benign	Het
Efr3b	A	G	12: 4,049,594 (GRCm39)	Y70H	probably damaging	Het
Epb42	T	A	2: 120,856,324 (GRCm39)	T407S	possibly damaging	Het
Fads2b	T	A	2: 85,324,387 (GRCm39)		probably benign	Het
Fap	T	A	2: 62,342,777 (GRCm39)	I608L	probably benign	Het
Fblim1	A	G	4: 141,310,387 (GRCm39)	Y292H	probably benign	Het
Fmod	A	G	1: 133,968,043 (GRCm39)	I28V	probably benign	Het
Gad2	T	A	2: 22,524,985 (GRCm39)	Y256*	probably null	Het
Gapdh	G	A	6: 125,139,017 (GRCm39)	A353V	probably benign	Het
Gm5460	T	G	14: 33,739,149 (GRCm39)	W44G	unknown	Het
Ino80e	A	T	7: 126,460,974 (GRCm39)	V91D	probably benign	Het
Iqgap2	G	A	13: 95,802,258 (GRCm39)	P896S	probably damaging	Het
Kif26b	T	A	1: 178,692,430 (GRCm39)	I457N	probably damaging	Het
Klc2	T	A	19: 5,168,477 (GRCm39)		probably benign	Het
Ldlrap1	C	A	4: 134,495,147 (GRCm39)	W22L	probably benign	Het
Matn3	A	G	12: 9,017,665 (GRCm39)	D439G	possibly damaging	Het
Met	T	C	6: 17,540,510 (GRCm39)	L812P	probably benign	Het
Mki67	A	T	7: 135,315,504 (GRCm39)	I90N	probably damaging	Het
Mptx2	A	C	1: 173,105,256 (GRCm39)	S12A	probably benign	Het
Mrgpra9	G	T	7: 46,885,624 (GRCm39)	N14K	probably benign	Het
Nbeal2	G	A	9: 110,456,949 (GRCm39)	R2350C	probably damaging	Het
Nsmaf	A	G	4: 6,396,748 (GRCm39)	I913T	probably benign	Het
Nuggc	G	T	14: 65,882,535 (GRCm39)	C760F	probably benign	Het
Or10a3m	T	A	7: 108,312,964 (GRCm39)	F135I	probably damaging	Het
Or1j13	T	A	2: 36,369,629 (GRCm39)	N171I	probably benign	Het
Or2y1f	T	A	11: 49,184,965 (GRCm39)	F272L	probably damaging	Het
Or4c110	C	A	2: 88,832,351 (GRCm39)	E94*	probably null	Het
Or51b6	A	G	7: 103,555,913 (GRCm39)	N86S		Het
Pdgfrb	C	T	18: 61,214,073 (GRCm39)	P953S	probably damaging	Het
Pemt	T	G	11: 59,874,285 (GRCm39)	I102L	probably benign	Het
Pla2g4c	G	T	7: 13,069,154 (GRCm39)	M109I	probably benign	Het
Pla2g4d	T	A	2: 120,100,466 (GRCm39)	Y622F	probably damaging	Het
Pmpca	T	A	2: 26,283,531 (GRCm39)	V400D	probably damaging	Het
Pnpt1	G	C	11: 29,104,815 (GRCm39)		probably null	Het
Pramel29	A	C	4: 143,935,192 (GRCm39)	L183R	probably damaging	Het
Prrc1	T	A	18: 57,496,408 (GRCm39)	S120T	possibly damaging	Het
Prrx2	T	G	2: 30,768,578 (GRCm39)	V135G	probably damaging	Het
Qrfprl	A	G	6: 65,433,260 (GRCm39)	K360R	probably benign	Het
Recql4	T	C	15: 76,593,054 (GRCm39)	N352S	probably benign	Het
Sftpa1	T	C	14: 40,856,044 (GRCm39)	S130P	probably damaging	Het
Slc35e2	T	C	4: 155,695,042 (GRCm39)	L136P	probably benign	Het
Tarbp2	T	A	15: 102,430,202 (GRCm39)	S155T	probably benign	Het
Tenm4	C	T	7: 96,555,148 (GRCm39)	P2618S	probably benign	Het
Tmem116	A	T	5: 121,620,433 (GRCm39)	Y146F		Het
Ttc17	C	T	2: 94,206,374 (GRCm39)		probably null	Het
Vmn2r114	G	A	17: 23,529,142 (GRCm39)	T320I	probably benign	Het
Vmn2r69	A	T	7: 85,055,783 (GRCm39)	V785D	probably damaging	Het
Vmn2r89	T	A	14: 51,693,722 (GRCm39)	N357K	probably damaging	Het
Zfp811	A	T	17: 33,017,197 (GRCm39)	L281Q	possibly damaging	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
R2483:Btrc	UTSW	19	45,504,497 (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
R9603:Btrc	UTSW	19	45,459,526 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GCGGTGTGCCTTTATCTCAG -3'
(R):5'- CACAAGGACTACAGACGATGCG -3'

Sequencing Primer
(F):5'- CTTTATCTCAGGCATGTGCTG -3'
(R):5'- CTACAGACGATGCGCAGTGAC -3'

Posted On

2021-03-08