Mutagenetix > Incidental Mutation

Incidental Mutation 'R8508:Fbxl12'

655702

Institutional Source

Beutler Lab

Gene Symbol

Fbxl12

Ensembl Gene

ENSMUSG00000066892

Gene Name

F-box and leucine-rich repeat protein 12

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8508 (G1)

Quality Score

195.009

Status

Not validated

Chromosome

Chromosomal Location

20618118-20644767 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 20638864 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 165 (R165L)

Ref Sequence

ENSEMBL: ENSMUSP00000083650 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086458] [ENSMUST00000086459] [ENSMUST00000129414] [ENSMUST00000131128] [ENSMUST00000131343] [ENSMUST00000140702] [ENSMUST00000148631] [ENSMUST00000151861] [ENSMUST00000155301]

AlphaFold

Q9EPX5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000086458
AA Change: R112L

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000083649
Gene: ENSMUSG00000066892
AA Change: R112L

Domain	Start	End	E-Value	Type
SCOP:d1fqva2	50	238	4e-5	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000086459
AA Change: R165L

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000083650
Gene: ENSMUSG00000066892
AA Change: R165L

Domain	Start	End	E-Value	Type
FBOX	7	46	1.14e-8	SMART
SCOP:d1fqva2	103	291	5e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000129414

SMART Domains

Protein: ENSMUSP00000123971
Gene: ENSMUSG00000084786

Domain	Start	End	E-Value	Type
Pfam:Ubiquitin_2	2	71	6.3e-7	PFAM
Pfam:ubiquitin	8	73	7.6e-8	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000131128
AA Change: R112L

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000115058
Gene: ENSMUSG00000066892
AA Change: R112L

Domain	Start	End	E-Value	Type
SCOP:d1fqva2	50	238	4e-5	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000131343
AA Change: R112L

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000140702
AA Change: R112L

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000114466
Gene: ENSMUSG00000066892
AA Change: R112L

Domain	Start	End	E-Value	Type
SCOP:d1fqva2	50	238	4e-5	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000148631
AA Change: R165L

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000119124
Gene: ENSMUSG00000066892
AA Change: R165L

Domain	Start	End	E-Value	Type
FBOX	7	46	1.14e-8	SMART
SCOP:d1fqva2	103	291	5e-5	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000151861
AA Change: R188L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000121429
Gene: ENSMUSG00000066892
AA Change: R188L

Domain	Start	End	E-Value	Type
SCOP:d1fqva2	50	238	4e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000155301

SMART Domains

Protein: ENSMUSP00000118369
Gene: ENSMUSG00000066892

Domain	Start	End	E-Value	Type
FBOX	7	46	1.14e-8	SMART
low complexity region	65	76	N/A	INTRINSIC

Meta Mutation Damage Score

0.2169

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.0%

Validation Efficiency

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 FBXL12, 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]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial postnatal lethality, growth retardation, small placenta, absent gastric milk in mice that die and abnormal placental. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	A	G	13: 59,743,598	L136P	probably benign	Het
4932438H23Rik	T	G	16: 91,055,612	Y212S	probably damaging	Het
Angpt1	T	C	15: 42,512,399	N154D	probably damaging	Het
Angpt2	G	A	8: 18,741,119	R54*	probably null	Het
Ankrd27	T	A	7: 35,601,626	L117*	probably null	Het
Arhgap21	C	T	2: 20,854,180	M1234I	probably benign	Het
Arhgef33	A	G	17: 80,367,335	E387G	probably damaging	Het
Atp13a4	T	A	16: 29,454,769	K444*	probably null	Het
Atp6v1a	G	A	16: 44,101,862	R338C	probably damaging	Het
Canx	T	C	11: 50,311,647	D44G	possibly damaging	Het
Ccdc141	T	A	2: 77,132,244	M119L	probably benign	Het
Ckmt1	A	C	2: 121,362,691	Q299P	possibly damaging	Het
Dhx16	T	C	17: 35,885,920	S601P	probably damaging	Het
Dna2	A	C	10: 62,950,894	R140S	probably damaging	Het
Dock1	A	G	7: 134,782,409	T670A	probably benign	Het
Eogt	A	G	6: 97,143,998	S85P	possibly damaging	Het
Fbf1	A	T	11: 116,165,881	M1K	probably null	Het
Flnb	G	A	14: 7,950,394	V2571I	probably damaging	Het
Gm11361	A	G	13: 28,257,711	I26V	probably benign	Het
Gm43518	A	G	5: 123,938,259	E123G	unknown	Het
Gm8332	T	G	12: 88,249,685	E139A	unknown	Het
Gpatch2	A	G	1: 187,304,355	N374S	probably benign	Het
Hey1	G	C	3: 8,664,776	A207G	probably benign	Het
Hoxa11	T	C	6: 52,245,802		probably benign	Het
Hydin	G	A	8: 110,582,018	V3979I	probably benign	Het
Ighe	C	T	12: 113,271,793	W277*	probably null	Het
Kmt2c	G	T	5: 25,314,122	T2330K	probably benign	Het
Krt6a	T	A	15: 101,692,735	K261M	probably damaging	Het
Lats2	A	C	14: 57,722,705	S161A	probably benign	Het
Med13l	T	A	5: 118,754,321	D1936E	probably benign	Het
Mipol1	T	C	12: 57,306,088	V71A	possibly damaging	Het
Mphosph8	A	T	14: 56,676,546	K415*	probably null	Het
Npepps	A	G	11: 97,244,426		probably null	Het
Ntn4	A	T	10: 93,741,104	N545Y	possibly damaging	Het
Olfr1501	A	T	19: 13,838,402	M257K	possibly damaging	Het
Olfr164	T	C	16: 19,286,701	D14G	probably benign	Het
Olfr353	A	G	2: 36,890,354	S165P	probably damaging	Het
Olfr738	A	C	14: 50,413,675	M44L	probably benign	Het
Osbpl2	T	A	2: 180,155,343	V358E	possibly damaging	Het
Pdcd11	C	A	19: 47,119,806	P1204Q	probably damaging	Het
Pnliprp2	A	C	19: 58,763,374	S184R	probably damaging	Het
Ppm1g	G	T	5: 31,204,528	R373S	probably damaging	Het
Rnf130	A	G	11: 50,087,437	D275G	probably damaging	Het
Setd5	T	C	6: 113,121,087	S696P	probably damaging	Het
Sgip1	A	G	4: 102,915,071	Q219R	probably benign	Het
Slc1a2	T	C	2: 102,736,085		probably null	Het
Slc22a12	T	C	19: 6,542,437	T106A	probably benign	Het
Slc22a14	A	G	9: 119,180,585	L148P	probably damaging	Het
Slc2a9	A	T	5: 38,382,078	F375I	probably damaging	Het
Sorbs3	A	T	14: 70,202,947	D117E	probably benign	Het
Sphkap	G	A	1: 83,276,500	T1176I	probably damaging	Het
Supt16	A	T	14: 52,181,589	V193D	probably damaging	Het
Sytl3	A	G	17: 6,728,291	T362A	probably damaging	Het
Tctn1	T	A	5: 122,246,611	Q410L	probably benign	Het
Trbc2	T	C	6: 41,547,777	Y133H		Het
Ttc28	G	A	5: 111,233,341	D1240N	probably benign	Het
Vmn2r120	A	G	17: 57,525,843	V112A	probably benign	Het
Zfp354b	A	T	11: 50,923,470	S209R	probably benign	Het
Zfp362	T	C	4: 128,774,606	H391R	probably damaging	Het

Other mutations in Fbxl12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01554:Fbxl12	APN	9	20638919	missense	possibly damaging	0.89
R0329:Fbxl12	UTSW	9	20638480	missense	probably damaging	0.96
R2327:Fbxl12	UTSW	9	20642234	missense	probably damaging	1.00
R2919:Fbxl12	UTSW	9	20642213	missense	probably damaging	1.00
R3722:Fbxl12	UTSW	9	20638972	splice site	probably null
R5322:Fbxl12	UTSW	9	20639008	missense	probably damaging	1.00
R6266:Fbxl12	UTSW	9	20638615	missense	probably damaging	1.00
R6392:Fbxl12	UTSW	9	20639176	missense	probably damaging	0.98
R7017:Fbxl12	UTSW	9	20618320	missense	unknown
R7131:Fbxl12	UTSW	9	20644383	unclassified	probably benign
R7213:Fbxl12	UTSW	9	20639008	missense	probably damaging	1.00
R7238:Fbxl12	UTSW	9	20618413	splice site	probably null
R8270:Fbxl12	UTSW	9	20638864	missense	possibly damaging	0.90
R8272:Fbxl12	UTSW	9	20638864	missense	possibly damaging	0.90
R8273:Fbxl12	UTSW	9	20638864	missense	possibly damaging	0.90
R8283:Fbxl12	UTSW	9	20638721	missense	probably benign	0.00
R8423:Fbxl12	UTSW	9	20638864	missense	possibly damaging	0.90
R8510:Fbxl12	UTSW	9	20638864	missense	possibly damaging	0.90
R8526:Fbxl12	UTSW	9	20638864	missense	possibly damaging	0.90
R8527:Fbxl12	UTSW	9	20638864	missense	possibly damaging	0.90
R8528:Fbxl12	UTSW	9	20638864	missense	possibly damaging	0.90
R8797:Fbxl12	UTSW	9	20638864	missense	possibly damaging	0.90
R9367:Fbxl12	UTSW	9	20638834	missense	probably damaging	0.97
R9574:Fbxl12	UTSW	9	20638813	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TCTTGCGCACATCTCGAAG -3'
(R):5'- AAATGCCCCAATCTGAAGCG -3'

Sequencing Primer
(F):5'- ACATCTCGAAGGTGGCGG -3'
(R):5'- AATCTGAAGCGCCTGTGC -3'

Posted On

2020-10-20