Mutagenetix > Incidental Mutation

Incidental Mutation 'R8819:Fbxw17'

672942

Institutional Source

Beutler Lab

Gene Symbol

Fbxw17

Ensembl Gene

ENSMUSG00000037816

Gene Name

F-box and WD-40 domain protein 17

Synonyms

1110064L07Rik

MMRRC Submission

068652-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8819 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

50571900-50587816 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 50587351 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 437 (K437M)

Ref Sequence

ENSEMBL: ENSMUSP00000041750 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046974] [ENSMUST00000176479] [ENSMUST00000176543] [ENSMUST00000176772]

AlphaFold

Q8CFE8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046974
AA Change: K437M

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000041750
Gene: ENSMUSG00000037816
AA Change: K437M

Domain	Start	End	E-Value	Type
Pfam:F-box	3	47	1.4e-6	PFAM
Pfam:F-box-like	4	48	6.7e-12	PFAM
WD40	85	133	9.94e-1	SMART
Blast:WD40	136	175	6e-12	BLAST
WD40	369	408	1.07e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000176479

Predicted Effect

probably benign
Transcript: ENSMUST00000176543

Predicted Effect

probably benign
Transcript: ENSMUST00000176772

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	G	17: 24,547,576 (GRCm39)	L266P	probably damaging	Het
Als2cl	T	C	9: 110,714,855 (GRCm39)	F125L	probably benign	Het
Arhgap33	T	C	7: 30,228,165 (GRCm39)	I406V	probably benign	Het
Bag5	T	C	12: 111,677,709 (GRCm39)	N38S	probably benign	Het
Clk2	T	A	3: 89,082,730 (GRCm39)	M392K	probably damaging	Het
Cngb1	C	T	8: 95,980,037 (GRCm39)		probably null	Het
Cps1	T	A	1: 67,267,439 (GRCm39)	N1402K	possibly damaging	Het
Cracd	CTGAGGCAGCGCGAGGCCGAGAGGCAGGAGGAGGAAG	C	5: 77,004,793 (GRCm39)		probably benign	Het
Cyp2u1	T	C	3: 131,092,016 (GRCm39)	H168R	probably damaging	Het
Dapl1	T	C	2: 59,335,056 (GRCm39)	L70P	probably damaging	Het
Ddr2	T	A	1: 169,805,483 (GRCm39)	K836*	probably null	Het
Dnmbp	C	T	19: 43,889,854 (GRCm39)	V638M	probably benign	Het
Dsel	A	G	1: 111,787,994 (GRCm39)	L847P	probably benign	Het
Eef1b2	T	C	1: 63,217,268 (GRCm39)		probably benign	Het
Eif1ad8	C	T	12: 87,563,910 (GRCm39)	R82*	probably null	Het
Fbll1	T	C	11: 35,688,802 (GRCm39)	K154E	probably benign	Het
Fktn	T	C	4: 53,735,001 (GRCm39)	V174A	possibly damaging	Het
Frem1	C	A	4: 82,821,754 (GRCm39)	S2118I	probably damaging	Het
Gabrb3	T	C	7: 57,442,329 (GRCm39)	S212P	probably damaging	Het
Gimap9	A	G	6: 48,654,821 (GRCm39)	D136G	probably benign	Het
Hps1	T	C	19: 42,759,648 (GRCm39)	I55V	probably benign	Het
Huwe1	A	G	X: 150,669,993 (GRCm39)	K1482R	probably benign	Het
Ift46	C	T	9: 44,701,819 (GRCm39)	T283I	probably damaging	Het
Ldb2	G	A	5: 44,956,757 (GRCm39)	Q27*	probably null	Het
Lmcd1	T	A	6: 112,306,770 (GRCm39)	I314N	probably damaging	Het
Lypd9	T	G	11: 58,337,129 (GRCm39)	S115R	probably damaging	Het
Mctp2	C	A	7: 71,879,081 (GRCm39)	V259L	probably benign	Het
Midn	T	G	10: 79,990,234 (GRCm39)	S302A	probably damaging	Het
Ncor2	A	G	5: 125,106,291 (GRCm39)	V797A		Het
Npm2	A	G	14: 70,885,768 (GRCm39)	S146P	probably damaging	Het
Npr1	G	A	3: 90,372,201 (GRCm39)	R204C	probably damaging	Het
Or2w2	G	A	13: 21,757,999 (GRCm39)	S209L	probably benign	Het
Or52n3	T	A	7: 104,530,862 (GRCm39)	V316D	possibly damaging	Het
Or6e1	C	T	14: 54,520,070 (GRCm39)	G94D	probably benign	Het
Paip2b	A	C	6: 83,791,738 (GRCm39)	M48R	probably damaging	Het
Pcsk2	T	A	2: 143,642,990 (GRCm39)	H422Q	probably damaging	Het
Pdzph1	G	C	17: 59,187,715 (GRCm39)	Y1168*	probably null	Het
Peli2	G	A	14: 48,490,130 (GRCm39)	E201K	possibly damaging	Het
Prelp	T	C	1: 133,842,878 (GRCm39)	N89S	probably damaging	Het
Rapgef3	T	C	15: 97,646,538 (GRCm39)	N799S	probably benign	Het
Rel	C	T	11: 23,695,626 (GRCm39)	R219H	probably damaging	Het
Relch	T	A	1: 105,654,179 (GRCm39)	F873L	possibly damaging	Het
Rimbp3	T	C	16: 17,028,771 (GRCm39)	S732P	probably benign	Het
Rock1	A	G	18: 10,070,626 (GRCm39)	F1196S	probably damaging	Het
Ryr3	A	G	2: 112,690,069 (GRCm39)	V1180A	probably benign	Het
Ryr3	G	A	2: 112,466,137 (GRCm39)	R4795W	probably damaging	Het
Scn11a	T	C	9: 119,645,586 (GRCm39)	I123V	probably benign	Het
Sema4b	G	C	7: 79,870,248 (GRCm39)	E475D	probably damaging	Het
Serinc2	C	A	4: 130,149,172 (GRCm39)	M343I	probably damaging	Het
Serinc5	G	T	13: 92,844,544 (GRCm39)	V429F	probably benign	Het
Tnfsf10	G	A	3: 27,389,451 (GRCm39)	V171M	probably benign	Het
Zfp27	T	C	7: 29,594,013 (GRCm39)	K651E	probably benign	Het
Zfp438	A	G	18: 5,213,383 (GRCm39)	I525T	possibly damaging	Het

Other mutations in Fbxw17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01126:Fbxw17	APN	13	50,577,336 (GRCm39)	missense	possibly damaging	0.49
IGL02477:Fbxw17	APN	13	50,577,853 (GRCm39)	missense	possibly damaging	0.68
R0364:Fbxw17	UTSW	13	50,586,477 (GRCm39)	missense	possibly damaging	0.83
R0577:Fbxw17	UTSW	13	50,585,619 (GRCm39)	missense	probably benign
R1709:Fbxw17	UTSW	13	50,585,693 (GRCm39)	missense	probably benign	0.00
R1791:Fbxw17	UTSW	13	50,579,810 (GRCm39)	unclassified	probably benign
R4811:Fbxw17	UTSW	13	50,579,669 (GRCm39)	missense	probably benign	0.01
R5013:Fbxw17	UTSW	13	50,586,506 (GRCm39)	missense	probably benign
R5153:Fbxw17	UTSW	13	50,573,897 (GRCm39)	missense	probably damaging	1.00
R5233:Fbxw17	UTSW	13	50,586,390 (GRCm39)	intron	probably benign
R5475:Fbxw17	UTSW	13	50,579,684 (GRCm39)	missense	probably benign
R6146:Fbxw17	UTSW	13	50,586,548 (GRCm39)	missense	probably benign	0.38
R6294:Fbxw17	UTSW	13	50,577,839 (GRCm39)	missense	probably benign
R6644:Fbxw17	UTSW	13	50,577,255 (GRCm39)	missense	probably damaging	1.00
R6798:Fbxw17	UTSW	13	50,587,300 (GRCm39)	splice site	probably null
R7007:Fbxw17	UTSW	13	50,577,808 (GRCm39)	missense	probably damaging	1.00
R7059:Fbxw17	UTSW	13	50,586,584 (GRCm39)	missense	probably damaging	1.00
R7565:Fbxw17	UTSW	13	50,587,398 (GRCm39)	missense	probably damaging	1.00
R7685:Fbxw17	UTSW	13	50,579,680 (GRCm39)	missense	probably damaging	1.00
R8177:Fbxw17	UTSW	13	50,579,660 (GRCm39)	missense	probably damaging	1.00
R8820:Fbxw17	UTSW	13	50,587,351 (GRCm39)	missense	possibly damaging	0.90
R8872:Fbxw17	UTSW	13	50,586,300 (GRCm39)	missense	probably benign	0.00
R9222:Fbxw17	UTSW	13	50,577,367 (GRCm39)	missense	probably damaging	0.99
R9308:Fbxw17	UTSW	13	50,572,004 (GRCm39)	missense	probably benign
R9558:Fbxw17	UTSW	13	50,577,311 (GRCm39)	missense	probably damaging	1.00
R9564:Fbxw17	UTSW	13	50,579,605 (GRCm39)	missense	probably damaging	1.00
R9565:Fbxw17	UTSW	13	50,579,605 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GATGTTTCTCACAGCGTCGG -3'
(R):5'- GGCATTTTGTTAGGAAGCAGGC -3'

Sequencing Primer
(F):5'- TCGGGAGCATCGTGATTCAAG -3'
(R):5'- TTAGGAAGCAGGCATCTTGC -3'

Posted On

2021-04-30