Mutagenetix > Incidental Mutation

Incidental Mutation 'R6054:Fbxl19'

484305

Institutional Source

Beutler Lab

Gene Symbol

Fbxl19

Ensembl Gene

ENSMUSG00000030811

Gene Name

F-box and leucine-rich repeat protein 19

Synonyms

Fbl19

MMRRC Submission

044222-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.915) question?

Stock #

R6054 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127343715-127368655 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 127351681 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 314 (T314I)

Ref Sequence

ENSEMBL: ENSMUSP00000140021 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033081] [ENSMUST00000186116] [ENSMUST00000186207] [ENSMUST00000188580] [ENSMUST00000189562] [ENSMUST00000205689] [ENSMUST00000206893]

AlphaFold

Q6PB97

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033081
AA Change: T430I

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000033081
Gene: ENSMUSG00000030811
AA Change: T430I

Domain	Start	End	E-Value	Type
Pfam:zf-CXXC	11	57	1.7e-16	PFAM
PHD	67	129	4e-4	SMART
low complexity region	166	183	N/A	INTRINSIC
low complexity region	302	325	N/A	INTRINSIC
low complexity region	355	377	N/A	INTRINSIC
FBOX	404	444	4.6e-4	SMART
low complexity region	509	520	N/A	INTRINSIC
LRR	576	601	3.58e1	SMART
LRR	631	656	1.28e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000186116
AA Change: T138I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000140083
Gene: ENSMUSG00000030811
AA Change: T138I

Domain	Start	End	E-Value	Type
low complexity region	10	33	N/A	INTRINSIC
low complexity region	63	85	N/A	INTRINSIC
FBOX	112	152	3e-6	SMART
low complexity region	217	228	N/A	INTRINSIC
LRR	284	309	1.5e-1	SMART
LRR	339	364	5.3e-6	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000186207
AA Change: T430I

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000140303
Gene: ENSMUSG00000030811
AA Change: T430I

Domain	Start	End	E-Value	Type
Pfam:zf-CXXC	11	57	1.7e-16	PFAM
PHD	67	129	4e-4	SMART
low complexity region	166	183	N/A	INTRINSIC
low complexity region	302	325	N/A	INTRINSIC
low complexity region	355	377	N/A	INTRINSIC
FBOX	404	444	4.6e-4	SMART
low complexity region	509	520	N/A	INTRINSIC
LRR	576	601	3.58e1	SMART
LRR	631	656	1.28e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000188580
AA Change: T314I

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

SMART Domains

Protein: ENSMUSP00000140021
Gene: ENSMUSG00000030811
AA Change: T314I

Domain	Start	End	E-Value	Type
Pfam:zf-CXXC	11	57	1.3e-16	PFAM
PHD	67	129	4e-4	SMART
low complexity region	186	209	N/A	INTRINSIC
low complexity region	239	261	N/A	INTRINSIC
FBOX	288	328	4.6e-4	SMART
low complexity region	393	404	N/A	INTRINSIC
LRR	460	485	3.58e1	SMART
LRR	515	540	1.28e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000189562

SMART Domains

Protein: ENSMUSP00000139972
Gene: ENSMUSG00000030811

Domain	Start	End	E-Value	Type
Pfam:zf-CXXC	11	57	9.3e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000205689

Predicted Effect

probably damaging
Transcript: ENSMUST00000206893
AA Change: T387I

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.2%
20x: 94.8%

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 Skp1-Cullin-F-box family of E3 ubiquitin ligases. The encoded protein is reported to bind to the transmembrane receptor interleukin 1 receptor-like 1 and regulate its ubiquitination and degradation. This protein has been linked to the regulation of pulmonary inflammation and psoriasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,653,729 (GRCm39)	S93P	unknown	Het
Adam28	T	A	14: 68,879,601 (GRCm39)	N149I	probably benign	Het
Adam4	A	C	12: 81,466,828 (GRCm39)	F598V	probably damaging	Het
Adh5	A	G	3: 138,151,136 (GRCm39)	H33R	possibly damaging	Het
Apoh	A	G	11: 108,286,801 (GRCm39)	N75S	probably damaging	Het
Arrdc5	T	C	17: 56,601,420 (GRCm39)	E235G	possibly damaging	Het
Atm	T	C	9: 53,371,173 (GRCm39)	D2225G	probably damaging	Het
Atp6v0a1	C	T	11: 100,930,715 (GRCm39)	P514L	possibly damaging	Het
Brd9	T	A	13: 74,088,860 (GRCm39)	M195K	probably damaging	Het
Cacna1a	T	G	8: 85,283,414 (GRCm39)	S755A	probably damaging	Het
Ccdc85c	T	A	12: 108,241,028 (GRCm39)	H122L	unknown	Het
Ccs	A	T	19: 4,875,893 (GRCm39)	D192E	probably benign	Het
Cd3e	G	A	9: 44,913,459 (GRCm39)	T92M	possibly damaging	Het
Celsr2	A	G	3: 108,314,279 (GRCm39)	F1249L	possibly damaging	Het
Col16a1	G	A	4: 129,955,515 (GRCm39)		probably benign	Het
Col17a1	A	G	19: 47,668,859 (GRCm39)	Y122H	probably damaging	Het
Col28a1	G	A	6: 8,083,748 (GRCm39)	P570S	possibly damaging	Het
Dchs2	A	T	3: 83,253,543 (GRCm39)	I2318L	probably benign	Het
Dhx35	T	A	2: 158,660,219 (GRCm39)	Y184N	probably benign	Het
Dmxl1	T	G	18: 49,990,453 (GRCm39)	N297K	probably benign	Het
Dsp	G	A	13: 38,351,585 (GRCm39)	G135S	probably benign	Het
Efhb	C	T	17: 53,706,027 (GRCm39)	V837I	possibly damaging	Het
Efs	C	T	14: 55,158,614 (GRCm39)	D15N	probably damaging	Het
Gm11595	A	T	11: 99,663,474 (GRCm39)	C69S	unknown	Het
Grxcr2	A	G	18: 42,119,743 (GRCm39)	V199A	probably benign	Het
Hadha	T	C	5: 30,328,682 (GRCm39)	E468G	probably benign	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,905,247 (GRCm39)		probably benign	Het
Hps1	A	T	19: 42,759,217 (GRCm39)	V125E	probably damaging	Het
Hrg	A	T	16: 22,772,412 (GRCm39)	T74S	probably benign	Het
Idh3a	T	C	9: 54,493,829 (GRCm39)		probably null	Het
Leng8	C	A	7: 4,148,522 (GRCm39)		probably null	Het
Maml2	TCAGCAGCAGCAGCAGCAGC	TCAGCAGCAGCAGCAGC	9: 13,532,695 (GRCm39)		probably benign	Het
Mctp2	T	C	7: 71,908,851 (GRCm39)	H154R	probably benign	Het
Megf6	A	G	4: 154,347,636 (GRCm39)	E777G	probably benign	Het
Miip	A	G	4: 147,950,135 (GRCm39)	S154P	probably benign	Het
Mprip	T	C	11: 59,649,251 (GRCm39)	V985A	probably benign	Het
Nmrk2	G	A	10: 81,035,468 (GRCm39)	R158W	probably damaging	Het
Nsd2	T	C	5: 34,039,505 (GRCm39)	S180P	probably damaging	Het
Oga	A	G	19: 45,764,571 (GRCm39)	S190P	probably damaging	Het
Opa1	T	G	16: 29,433,952 (GRCm39)	S596A	probably damaging	Het
Or1ad1	G	A	11: 50,875,631 (GRCm39)	M34I	probably benign	Het
Or51b4	A	G	7: 103,531,033 (GRCm39)	V139A	probably damaging	Het
Pcdha2	A	G	18: 37,073,857 (GRCm39)	E496G	probably damaging	Het
Pcdhb5	T	G	18: 37,454,133 (GRCm39)	V171G	probably damaging	Het
Pramel6	A	G	2: 87,339,003 (GRCm39)	T68A	probably benign	Het
Ptprq	T	C	10: 107,418,219 (GRCm39)	Y1719C	probably damaging	Het
Pzp	T	C	6: 128,490,727 (GRCm39)	N412S	probably benign	Het
Rb1cc1	G	T	1: 6,320,058 (GRCm39)	R1159L	probably benign	Het
Rev3l	T	A	10: 39,700,146 (GRCm39)	S1548T	probably benign	Het
Rora	A	G	9: 69,286,084 (GRCm39)	I471M	probably benign	Het
Scube1	C	A	15: 83,535,877 (GRCm39)	V266L	probably benign	Het
Sema6a	C	T	18: 47,416,470 (GRCm39)	D386N	possibly damaging	Het
Siglecf	T	A	7: 43,004,430 (GRCm39)	L253Q	probably damaging	Het
Spata31d1b	A	G	13: 59,863,464 (GRCm39)	H204R	probably benign	Het
Syt17	T	C	7: 118,007,356 (GRCm39)	T313A	possibly damaging	Het
Tbc1d32	T	C	10: 56,038,304 (GRCm39)	T578A	possibly damaging	Het
Trpm1	A	G	7: 63,918,450 (GRCm39)	S597G	probably benign	Het
Vmn2r9	T	A	5: 108,996,126 (GRCm39)	H174L	probably damaging	Het
Vrk2	A	T	11: 26,436,975 (GRCm39)	S281T	probably benign	Het
Wdr48	A	G	9: 119,736,843 (GRCm39)	D22G	probably damaging	Het
Zfp408	C	A	2: 91,479,636 (GRCm39)	V61L	probably benign	Het
Zfp652	G	A	11: 95,640,689 (GRCm39)	A205T	probably benign	Het

Other mutations in Fbxl19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0559:Fbxl19	UTSW	7	127,349,390 (GRCm39)	missense	possibly damaging	0.51
R1933:Fbxl19	UTSW	7	127,350,101 (GRCm39)	missense	probably benign
R2280:Fbxl19	UTSW	7	127,347,540 (GRCm39)	missense	possibly damaging	0.80
R2935:Fbxl19	UTSW	7	127,351,432 (GRCm39)	missense	probably damaging	0.97
R5580:Fbxl19	UTSW	7	127,350,168 (GRCm39)	nonsense	probably null
R6032:Fbxl19	UTSW	7	127,360,437 (GRCm39)	missense	probably damaging	1.00
R6032:Fbxl19	UTSW	7	127,360,437 (GRCm39)	missense	probably damaging	1.00
R6540:Fbxl19	UTSW	7	127,347,525 (GRCm39)	utr 5 prime	probably benign
R6825:Fbxl19	UTSW	7	127,349,187 (GRCm39)	missense	probably damaging	0.99
R7136:Fbxl19	UTSW	7	127,349,217 (GRCm39)	missense	possibly damaging	0.92
R8327:Fbxl19	UTSW	7	127,347,520 (GRCm39)	nonsense	probably null
X0060:Fbxl19	UTSW	7	127,366,975 (GRCm39)	missense	probably benign	0.28
Z1176:Fbxl19	UTSW	7	127,360,447 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TGAGGATGAAGCTCCTGGAG -3'
(R):5'- GGGTCCACATTCAAACTCCTG -3'

Sequencing Primer
(F):5'- ATGAAGCTCCTGGAGAGGCC -3'
(R):5'- GTCCACATTCAAACTCCTGATTCTAC -3'

Posted On

2017-07-14