Mutagenetix > Incidental Mutation

Incidental Mutation 'R8273:Fbxl12'

637856

Institutional Source

Beutler Lab

Gene Symbol

Fbxl12

Ensembl Gene

ENSMUSG00000066892

Gene Name

F-box and leucine-rich repeat protein 12

Synonyms

3110048D16Rik

MMRRC Submission

067696-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8273 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20549045-20556064 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 20550160 bp (GRCm39)

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: 99.6%
20x: 98.8%

Validation Efficiency

98% (62/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	A	3: 137,772,211 (GRCm39)	V467I	probably benign	Het
Ank1	G	A	8: 23,575,668 (GRCm39)	G167E	probably damaging	Het
Ano2	G	A	6: 125,959,683 (GRCm39)	V648M	probably damaging	Het
Ap3b2	A	G	7: 81,112,990 (GRCm39)	C954R	unknown	Het
Atp13a4	T	G	16: 29,290,720 (GRCm39)	Y243S		Het
Bend3	T	G	10: 43,386,899 (GRCm39)	C431G	probably damaging	Het
Ccdc57	G	A	11: 120,812,599 (GRCm39)	R52C	probably damaging	Het
Ccl22	T	C	8: 95,473,619 (GRCm39)	W55R	probably damaging	Het
Ccnk	A	G	12: 108,152,758 (GRCm39)	Y25C	probably damaging	Het
Cntnap5a	C	T	1: 116,499,271 (GRCm39)	P1174S	probably damaging	Het
Copa	T	C	1: 171,946,546 (GRCm39)		probably null	Het
Copg2	C	T	6: 30,793,061 (GRCm39)	V425M	probably benign	Het
Dnah6	T	A	6: 73,172,664 (GRCm39)	T265S	probably benign	Het
Dnah6	T	C	6: 73,053,582 (GRCm39)	E2936G	probably benign	Het
Dync2i2	A	T	2: 29,921,903 (GRCm39)	V486D	probably damaging	Het
Erc2	A	G	14: 27,499,096 (GRCm39)	D324G	probably benign	Het
F11	T	A	8: 45,701,644 (GRCm39)	H363L	possibly damaging	Het
F7	T	C	8: 13,083,981 (GRCm39)	V222A	probably benign	Het
Fars2	A	G	13: 36,594,093 (GRCm39)	D366G	probably damaging	Het
Flot2	A	G	11: 77,950,021 (GRCm39)	I417V	probably benign	Het
Fmnl1	T	C	11: 103,077,525 (GRCm39)	F295S	probably damaging	Het
Gpr89	G	A	3: 96,812,505 (GRCm39)	T12I	probably benign	Het
Gprc6a	T	C	10: 51,507,370 (GRCm39)	D53G	probably benign	Het
Gtf2e1	T	A	16: 37,343,213 (GRCm39)	I184F	probably damaging	Het
Gtf2h1	G	A	7: 46,454,474 (GRCm39)	R152H	probably benign	Het
Haus3	A	G	5: 34,311,435 (GRCm39)	F532L	probably benign	Het
Inpp4a	A	G	1: 37,407,520 (GRCm39)		probably benign	Het
Klc4	A	T	17: 46,953,080 (GRCm39)	L150Q	possibly damaging	Het
Lzts3	C	T	2: 130,476,801 (GRCm39)	R549Q	possibly damaging	Het
Mbd5	T	A	2: 49,168,891 (GRCm39)	L1354Q	probably damaging	Het
Mtus2	A	G	5: 148,043,815 (GRCm39)	D801G	probably damaging	Het
Muc6	T	A	7: 141,226,795 (GRCm39)	T1411S	unknown	Het
Nalcn	C	A	14: 123,554,436 (GRCm39)	G954C	probably damaging	Het
Nlrp9b	G	A	7: 19,757,986 (GRCm39)	E408K	possibly damaging	Het
Oaz3	A	G	3: 94,342,434 (GRCm39)	L119P	probably damaging	Het
Or2w6	A	G	13: 21,843,377 (GRCm39)	F39L	probably damaging	Het
Pcdhgb5	T	C	18: 37,865,240 (GRCm39)	V345A	probably benign	Het
Pdzph1	A	T	17: 59,280,009 (GRCm39)	Y758N	probably benign	Het
Pea15a	T	A	1: 172,026,812 (GRCm39)	H65L	probably damaging	Het
Pigm	T	A	1: 172,205,524 (GRCm39)	I420N	probably benign	Het
Pign	A	G	1: 105,516,803 (GRCm39)	F580L	probably benign	Het
Pkhd1	T	C	1: 20,607,644 (GRCm39)		probably benign	Het
Plxnc1	T	C	10: 94,649,105 (GRCm39)	N1225D	probably benign	Het
Rbbp6	G	A	7: 122,589,547 (GRCm39)	D412N	probably benign	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rtl1	A	G	12: 109,559,149 (GRCm39)	Y897H	possibly damaging	Het
Scube2	A	T	7: 109,408,383 (GRCm39)	F688Y	probably benign	Het
Sgo2b	C	A	8: 64,377,735 (GRCm39)	R1166L	unknown	Het
Slc12a2	G	T	18: 58,047,338 (GRCm39)		probably benign	Het
Smpdl3b	T	A	4: 132,465,712 (GRCm39)	H236L	probably damaging	Het
Spata9	C	A	13: 76,125,666 (GRCm39)		probably benign	Het
St6galnac4	A	G	2: 32,477,667 (GRCm39)		probably benign	Het
Stc2	T	A	11: 31,319,777 (GRCm39)	N29I	possibly damaging	Het
Sun5	A	T	2: 153,707,243 (GRCm39)	M145K	possibly damaging	Het
Tas2r106	T	C	6: 131,655,018 (GRCm39)	I278V	probably damaging	Het
Trrap	A	G	5: 144,727,975 (GRCm39)	I565M	probably damaging	Het
Ttl	A	G	2: 128,910,853 (GRCm39)	K79R	probably benign	Het
Ttn	A	T	2: 76,737,721 (GRCm39)	Y4319N	unknown	Het
Usp28	T	C	9: 48,938,182 (GRCm39)	L584P	probably damaging	Het
Wdr27	A	G	17: 15,049,838 (GRCm39)	S777P	probably benign	Het
Wee1	A	G	7: 109,723,691 (GRCm39)	D202G	probably benign	Het
Wnt5a	T	C	14: 28,244,562 (GRCm39)	Y270H	probably damaging	Het
Zfp318	G	A	17: 46,723,301 (GRCm39)	C1768Y	probably damaging	Het

Other mutations in Fbxl12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01554:Fbxl12	APN	9	20,550,215 (GRCm39)	missense	possibly damaging	0.89
R0329:Fbxl12	UTSW	9	20,549,776 (GRCm39)	missense	probably damaging	0.96
R2327:Fbxl12	UTSW	9	20,553,530 (GRCm39)	missense	probably damaging	1.00
R2919:Fbxl12	UTSW	9	20,553,509 (GRCm39)	missense	probably damaging	1.00
R3722:Fbxl12	UTSW	9	20,550,268 (GRCm39)	splice site	probably null
R5322:Fbxl12	UTSW	9	20,550,304 (GRCm39)	missense	probably damaging	1.00
R6266:Fbxl12	UTSW	9	20,549,911 (GRCm39)	missense	probably damaging	1.00
R6392:Fbxl12	UTSW	9	20,550,472 (GRCm39)	missense	probably damaging	0.98
R7017:Fbxl12	UTSW	9	20,529,616 (GRCm39)	missense	unknown
R7131:Fbxl12	UTSW	9	20,555,679 (GRCm39)	unclassified	probably benign
R7213:Fbxl12	UTSW	9	20,550,304 (GRCm39)	missense	probably damaging	1.00
R7238:Fbxl12	UTSW	9	20,529,709 (GRCm39)	splice site	probably null
R8270:Fbxl12	UTSW	9	20,550,160 (GRCm39)	missense	possibly damaging	0.90
R8272:Fbxl12	UTSW	9	20,550,160 (GRCm39)	missense	possibly damaging	0.90
R8283:Fbxl12	UTSW	9	20,550,017 (GRCm39)	missense	probably benign	0.00
R8423:Fbxl12	UTSW	9	20,550,160 (GRCm39)	missense	possibly damaging	0.90
R8508:Fbxl12	UTSW	9	20,550,160 (GRCm39)	missense	possibly damaging	0.90
R8510:Fbxl12	UTSW	9	20,550,160 (GRCm39)	missense	possibly damaging	0.90
R8526:Fbxl12	UTSW	9	20,550,160 (GRCm39)	missense	possibly damaging	0.90
R8527:Fbxl12	UTSW	9	20,550,160 (GRCm39)	missense	possibly damaging	0.90
R8528:Fbxl12	UTSW	9	20,550,160 (GRCm39)	missense	possibly damaging	0.90
R8797:Fbxl12	UTSW	9	20,550,160 (GRCm39)	missense	possibly damaging	0.90
R9367:Fbxl12	UTSW	9	20,550,130 (GRCm39)	missense	probably damaging	0.97
R9574:Fbxl12	UTSW	9	20,550,109 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

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

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

Posted On

2020-07-28