Mutagenetix > Incidental Mutation

Incidental Mutation 'R9094:Fbxo34'

691240

Institutional Source

Beutler Lab

Gene Symbol

Fbxo34

Ensembl Gene

ENSMUSG00000037536

Gene Name

F-box protein 34

Synonyms

5830426G16Rik, 2900057B08Rik

MMRRC Submission

068909-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R9094 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

47709992-47769419 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 47767928 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 480 (H480Q)

Ref Sequence

ENSEMBL: ENSMUSP00000044675 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043112] [ENSMUST00000095941] [ENSMUST00000163324] [ENSMUST00000165714] [ENSMUST00000168833] [ENSMUST00000226395] [ENSMUST00000226432] [ENSMUST00000226954] [ENSMUST00000228019] [ENSMUST00000228668] [ENSMUST00000228740]

AlphaFold

Q80XI1

Predicted Effect

probably benign
Transcript: ENSMUST00000043112
AA Change: H480Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000044675
Gene: ENSMUSG00000037536
AA Change: H480Q

Domain	Start	End	E-Value	Type
low complexity region	8	45	N/A	INTRINSIC
FBOX	613	653	1.84e-3	SMART

Predicted Effect

SMART Domains

Protein: ENSMUSP00000093634
Gene: ENSMUSG00000037536
AA Change: H429Q

Domain	Start	End	E-Value	Type
FBOX	562	602	1.84e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000163324
AA Change: H429Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000131708
Gene: ENSMUSG00000037536
AA Change: H429Q

Domain	Start	End	E-Value	Type
FBOX	562	602	1.84e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000165714
AA Change: H429Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000130036
Gene: ENSMUSG00000037536
AA Change: H429Q

Domain	Start	End	E-Value	Type
FBOX	562	602	1.84e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000168833
AA Change: H429Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000132271
Gene: ENSMUSG00000037536
AA Change: H429Q

Domain	Start	End	E-Value	Type
FBOX	562	602	1.84e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000226395

Predicted Effect

probably benign
Transcript: ENSMUST00000226432

Predicted Effect

probably benign
Transcript: ENSMUST00000226954

Predicted Effect

probably benign
Transcript: ENSMUST00000227601

Predicted Effect

probably benign
Transcript: ENSMUST00000228019

Predicted Effect

probably benign
Transcript: ENSMUST00000228668

Predicted Effect

probably benign
Transcript: ENSMUST00000228740

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

96% (67/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the F-box protein family, such as FBXO34, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110021N24Rik	T	C	4: 108,637,744 (GRCm39)	V37A	unknown	Het
3425401B19Rik	G	A	14: 32,382,614 (GRCm39)	S1117L	possibly damaging	Het
Abi3bp	A	G	16: 56,456,590 (GRCm39)	I1021V	probably benign	Het
Agrn	C	A	4: 156,253,264 (GRCm39)	K1848N	probably benign	Het
Anln	A	G	9: 22,249,283 (GRCm39)	V1005A	probably benign	Het
Arb2a	A	G	13: 78,311,725 (GRCm39)	K356R	possibly damaging	Het
Arid3b	A	G	9: 57,741,327 (GRCm39)	Y40H	probably damaging	Het
Bco1	A	C	8: 117,859,917 (GRCm39)	D540A	probably benign	Het
Blnk	A	G	19: 40,982,482 (GRCm39)	I7T	probably benign	Het
Brca2	T	G	5: 150,475,770 (GRCm39)	D2493E	probably benign	Het
Bsn	T	A	9: 107,988,052 (GRCm39)	M2567L	unknown	Het
Cacna1e	T	A	1: 154,355,064 (GRCm39)	Y693F	possibly damaging	Het
Catsperg1	G	C	7: 28,884,152 (GRCm39)	T987R	probably damaging	Het
Cpa4	G	T	6: 30,574,393 (GRCm39)	D61Y	possibly damaging	Het
Cpne1	A	C	2: 155,921,080 (GRCm39)	V70G	probably damaging	Het
Dnase1l3	A	T	14: 7,987,306 (GRCm38)	N81K	probably damaging	Het
Duxf3	GCCC	GCC	10: 58,066,944 (GRCm39)		probably null	Het
Fbxo31	G	A	8: 122,281,136 (GRCm39)	R337C	probably damaging	Het
Frmd4b	T	C	6: 97,398,559 (GRCm39)	E96G		Het
Gdpgp1	T	A	7: 79,888,216 (GRCm39)	D82E	probably benign	Het
Gjb3	GCCAGATGCGCCCA	GCCAGATGCGCCCAGATGCGCCCA	4: 127,220,458 (GRCm39)		probably null	Het
Grpel1	A	G	5: 36,626,823 (GRCm39)	N35S	probably benign	Het
Il12rb1	A	G	8: 71,273,291 (GRCm39)	T665A	possibly damaging	Het
Il16	T	C	7: 83,301,559 (GRCm39)	T886A	probably benign	Het
Insig1	T	A	5: 28,278,570 (GRCm39)	C128*	probably null	Het
Kcnk10	T	A	12: 98,484,775 (GRCm39)	E120D	probably benign	Het
Kctd1	T	C	18: 15,195,369 (GRCm39)	N418S	possibly damaging	Het
Kifbp	A	G	10: 62,395,037 (GRCm39)	V535A	probably damaging	Het
Klhl20	T	A	1: 160,933,055 (GRCm39)	H251L	probably damaging	Het
Ldlrad3	T	C	2: 101,888,326 (GRCm39)	D127G	probably damaging	Het
Lrp3	T	C	7: 34,903,182 (GRCm39)	Y388C	probably damaging	Het
Lrrc4	G	A	6: 28,830,206 (GRCm39)	R47W	possibly damaging	Het
Luzp1	A	T	4: 136,272,562 (GRCm39)	D1022V	probably damaging	Het
Mllt1	C	A	17: 57,212,737 (GRCm39)	R132L	probably damaging	Het
Ncoa1	G	T	12: 4,345,494 (GRCm39)	H618N	possibly damaging	Het
Nelfcd	T	C	2: 174,265,861 (GRCm39)	S318P	probably damaging	Het
Ngly1	A	C	14: 16,280,721 (GRCm38)	T301P	probably damaging	Het
Npy5r	G	A	8: 67,133,560 (GRCm39)	T411I	probably damaging	Het
Or55b10	T	C	7: 102,143,568 (GRCm39)	E138G	possibly damaging	Het
Or5d46	A	G	2: 88,170,248 (GRCm39)	N113S	probably benign	Het
Pcdha6	T	A	18: 37,101,593 (GRCm39)	I262N	probably damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Pm20d1	C	A	1: 131,730,481 (GRCm39)	A245D	possibly damaging	Het
Rars1	T	C	11: 35,718,182 (GRCm39)		probably benign	Het
Rbms2	T	A	10: 127,987,107 (GRCm39)	I62F	probably damaging	Het
Rev3l	A	T	10: 39,700,809 (GRCm39)	T1769S	probably benign	Het
Rexo1	A	G	10: 80,378,854 (GRCm39)	Y1061H	probably damaging	Het
Rgs3	A	T	4: 62,500,240 (GRCm39)	I26F	probably damaging	Het
Rsf1	G	GACGGCGGCC	7: 97,229,116 (GRCm39)		probably benign	Het
Rtkn	A	T	6: 83,128,018 (GRCm39)	N406Y	possibly damaging	Het
Rtn4r	A	T	16: 17,969,708 (GRCm39)	I379F	possibly damaging	Het
Sez6	G	A	11: 77,865,121 (GRCm39)	E623K	possibly damaging	Het
Slmap	T	C	14: 26,137,355 (GRCm39)		probably benign	Het
Sorl1	A	T	9: 41,975,050 (GRCm39)	N519K	possibly damaging	Het
Srebf2	A	T	15: 82,056,975 (GRCm39)	I237F	possibly damaging	Het
Szt2	T	C	4: 118,242,651 (GRCm39)	S1479G	possibly damaging	Het
Tbc1d24	C	A	17: 24,400,274 (GRCm39)	E537*	probably null	Het
Ttf1	T	A	2: 28,957,080 (GRCm39)	I450K	probably benign	Het
Ube2e2	A	G	14: 18,893,288 (GRCm38)	S2P	unknown	Het
Utp20	T	C	10: 88,611,180 (GRCm39)	N1379S	probably damaging	Het
Vmn2r25	C	T	6: 123,805,391 (GRCm39)	V489I	probably benign	Het
Wfdc8	C	T	2: 164,439,245 (GRCm39)	R379H	unknown	Het
Zeb2	C	T	2: 45,003,136 (GRCm39)		probably benign	Het
Zfp3	C	T	11: 70,663,241 (GRCm39)	T400I	probably benign	Het
Zfp760	T	C	17: 21,941,932 (GRCm39)	I369T	possibly damaging	Het

Other mutations in Fbxo34

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Fbxo34	APN	14	47,766,931 (GRCm39)	missense	probably damaging	0.97
IGL01337:Fbxo34	APN	14	47,767,674 (GRCm39)	missense	probably benign	0.05
IGL01418:Fbxo34	APN	14	47,768,241 (GRCm39)	missense	possibly damaging	0.46
IGL02069:Fbxo34	APN	14	47,767,070 (GRCm39)	missense	probably damaging	1.00
IGL02829:Fbxo34	APN	14	47,767,146 (GRCm39)	missense	probably benign	0.00
R0601:Fbxo34	UTSW	14	47,767,714 (GRCm39)	missense	probably benign
R0714:Fbxo34	UTSW	14	47,767,486 (GRCm39)	missense	probably damaging	1.00
R1186:Fbxo34	UTSW	14	47,768,043 (GRCm39)	missense	probably damaging	0.99
R1714:Fbxo34	UTSW	14	47,766,658 (GRCm39)	missense	probably damaging	1.00
R1842:Fbxo34	UTSW	14	47,768,464 (GRCm39)	missense	probably damaging	0.98
R2127:Fbxo34	UTSW	14	47,767,563 (GRCm39)	missense	probably damaging	0.98
R4199:Fbxo34	UTSW	14	47,768,454 (GRCm39)	missense	probably damaging	1.00
R4649:Fbxo34	UTSW	14	47,767,085 (GRCm39)	missense	probably damaging	1.00
R4801:Fbxo34	UTSW	14	47,768,326 (GRCm39)	missense	probably damaging	1.00
R4802:Fbxo34	UTSW	14	47,768,326 (GRCm39)	missense	probably damaging	1.00
R4906:Fbxo34	UTSW	14	47,766,911 (GRCm39)	missense	probably benign	0.26
R5475:Fbxo34	UTSW	14	47,766,802 (GRCm39)	missense	probably benign	0.01
R5888:Fbxo34	UTSW	14	47,767,176 (GRCm39)	missense	probably damaging	0.98
R6573:Fbxo34	UTSW	14	47,767,124 (GRCm39)	missense	possibly damaging	0.61
R7236:Fbxo34	UTSW	14	47,767,841 (GRCm39)	missense	probably benign	0.00
R7257:Fbxo34	UTSW	14	47,738,329 (GRCm39)	critical splice donor site	probably null
R7381:Fbxo34	UTSW	14	47,767,992 (GRCm39)	missense	probably benign	0.02
R7515:Fbxo34	UTSW	14	47,767,798 (GRCm39)	missense	possibly damaging	0.84
R7562:Fbxo34	UTSW	14	47,767,135 (GRCm39)	missense	probably benign	0.00
R8190:Fbxo34	UTSW	14	47,767,879 (GRCm39)	missense	possibly damaging	0.67
R9620:Fbxo34	UTSW	14	47,768,725 (GRCm39)	missense	probably damaging	1.00
R9632:Fbxo34	UTSW	14	47,768,724 (GRCm39)	missense	probably damaging	1.00
R9710:Fbxo34	UTSW	14	47,768,724 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCACTTCTCAAAGCTGTCCC -3'
(R):5'- AGCATCTTGAGGCTGACTG -3'

Sequencing Primer
(F):5'- AAAGCTGTCCCTCATTGCCAG -3'
(R):5'- TCTGAGGCCTCTGGTGC -3'

Posted On

2021-12-30