Mutagenetix > Incidental Mutations

Incidental Mutation 'R6146:Fbxw17'

488898

Institutional Source

Beutler Lab

Gene Symbol

Fbxw17

Ensembl Gene

ENSMUSG00000037816

Gene Name

F-box and WD-40 domain protein 17

Synonyms

MMRRC Submission

044293-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6146 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

50417864-50433780 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 50432512 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 417 (K417E)

Ref Sequence

ENSEMBL: ENSMUSP00000041750 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000046974
AA Change: K417E

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000041750
Gene: ENSMUSG00000037816
AA Change: K417E

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

noncoding transcript
Transcript: ENSMUST00000176298

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176424

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176470

Predicted Effect

probably benign
Transcript: ENSMUST00000176479

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176508

Predicted Effect

silent
Transcript: ENSMUST00000176543

Predicted Effect

silent
Transcript: ENSMUST00000176772

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177233

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177541

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185962

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	G	5: 8,896,587	E29G	probably benign	Het
Abi3bp	T	C	16: 56,671,265	S552P	probably damaging	Het
Adgrg7	A	G	16: 56,773,466	I129T	probably benign	Het
Adhfe1	A	G	1: 9,553,718	N148S	probably damaging	Het
AI182371	A	G	2: 35,097,971	Y77H	probably damaging	Het
Aldh5a1	C	T	13: 24,919,678		probably null	Het
Ankrd2	A	G	19: 42,040,105	T67A	possibly damaging	Het
Anln	A	T	9: 22,376,308	C232*	probably null	Het
C330027C09Rik	A	T	16: 48,994,329	K18*	probably null	Het
Cchcr1	A	G	17: 35,528,578	D587G	possibly damaging	Het
Cgn	G	T	3: 94,767,125	Q901K	possibly damaging	Het
Cluh	G	T	11: 74,667,228		probably null	Het
Crebbp	G	A	16: 4,084,623	Q2213*	probably null	Het
Cyp2d22	T	A	15: 82,373,835		probably null	Het
Dcdc2a	T	C	13: 25,205,457	V456A	probably benign	Het
Depdc5	A	G	5: 32,968,731	E569G	probably benign	Het
Dnah5	T	C	15: 28,459,185	F4517L	probably benign	Het
Doc2b	T	C	11: 75,773,595	K317E	probably damaging	Het
Dysf	T	A	6: 84,203,199	D1951E	probably damaging	Het
Epha6	C	A	16: 60,424,835	A334S	possibly damaging	Het
F2rl2	A	C	13: 95,700,641	I65L	probably benign	Het
Fkbpl	G	A	17: 34,645,329	A24T	probably benign	Het
Fxr2	A	G	11: 69,641,339	M96V	possibly damaging	Het
Kcnj10	C	A	1: 172,369,325	Y135*	probably null	Het
Kidins220	G	A	12: 25,052,813	R1238Q	probably damaging	Het
Krt31	T	C	11: 100,048,230	N255S	probably benign	Het
Lrp2	T	C	2: 69,511,001	D945G	probably benign	Het
Lrrc66	T	C	5: 73,608,089	D537G	probably benign	Het
Ltbp4	T	A	7: 27,319,724	I992F	probably damaging	Het
Lzts1	A	G	8: 69,140,872	S28P	probably benign	Het
Mrc2	C	A	11: 105,325,644	N86K	probably damaging	Het
Mroh6	C	A	15: 75,886,637	A302S	possibly damaging	Het
Muc16	T	A	9: 18,497,797	N198Y	probably damaging	Het
Myo9a	T	C	9: 59,871,229	S1423P	probably benign	Het
Olfr1006	T	A	2: 85,674,594	K186*	probably null	Het
Olfr1124	A	T	2: 87,435,318	D277V	possibly damaging	Het
Olfr1141	A	C	2: 87,753,258	L245R	probably damaging	Het
Olfr1367	A	T	13: 21,346,994	Y22F	possibly damaging	Het
Olfr190	A	G	16: 59,074,714	V122A	probably benign	Het
Olfr477	G	T	7: 107,990,413	G16V	probably damaging	Het
Otogl	G	A	10: 107,777,117		silent	Het
Polg	T	C	7: 79,450,512	M1184V	probably benign	Het
Prl8a8	T	C	13: 27,510,480	Y108C	probably damaging	Het
Proser1	T	A	3: 53,478,119	I474N	probably damaging	Het
Rab44	A	G	17: 29,135,417		probably benign	Het
Rbp1	C	A	9: 98,425,616	D79E	possibly damaging	Het
Rnf213	T	C	11: 119,435,999	V1605A	probably benign	Het
Rps24	A	T	14: 24,490,735		probably null	Het
Setd5	T	C	6: 113,121,812		probably null	Het
Slc38a3	T	C	9: 107,655,029	I435V	probably benign	Het
Slco1a5	T	A	6: 142,234,808	M623L	probably benign	Het
Spaca9	G	A	2: 28,693,781	R64W	probably damaging	Het
Spn	A	G	7: 127,136,307	S343P	possibly damaging	Het
Sptan1	A	G	2: 30,004,523	T1168A	probably benign	Het
Sptbn4	A	T	7: 27,364,587	L2138*	probably null	Het
Tg	T	A	15: 66,673,367		probably null	Het
Tigd5	T	A	15: 75,910,245	L152Q	probably damaging	Het
Tmem163	C	T	1: 127,519,389	V170I	probably benign	Het
Tpr	T	C	1: 150,423,162	C1068R	possibly damaging	Het
Ttc37	A	G	13: 76,185,240	E1536G	probably damaging	Het
Ubr1	A	T	2: 120,893,209	Y1290N	probably damaging	Het
Vmn1r184	T	A	7: 26,267,392	F188I	probably benign	Het
Vmn2r100	G	A	17: 19,522,260	V299I	probably benign	Het
Vmn2r91	T	G	17: 18,136,256	H728Q	probably benign	Het
Vta1	T	C	10: 14,705,352	Y37C	probably damaging	Het
Wbp2	C	A	11: 116,083,902	M35I	probably benign	Het
Zcchc9	G	A	13: 91,805,867	Q90*	probably null	Het

Other mutations in Fbxw17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01126:Fbxw17	APN	13	50423300	missense	possibly damaging	0.49
IGL02477:Fbxw17	APN	13	50423817	missense	possibly damaging	0.68
R0364:Fbxw17	UTSW	13	50432441	missense	possibly damaging	0.83
R0577:Fbxw17	UTSW	13	50431583	missense	probably benign
R1709:Fbxw17	UTSW	13	50431657	missense	probably benign	0.00
R1791:Fbxw17	UTSW	13	50425774	unclassified	probably benign
R4811:Fbxw17	UTSW	13	50425633	missense	probably benign	0.01
R5013:Fbxw17	UTSW	13	50432470	missense	probably benign
R5153:Fbxw17	UTSW	13	50419861	missense	probably damaging	1.00
R5233:Fbxw17	UTSW	13	50432354	intron	probably benign
R5475:Fbxw17	UTSW	13	50425648	missense	probably benign
R6294:Fbxw17	UTSW	13	50423803	missense	probably benign
R6644:Fbxw17	UTSW	13	50423219	missense	probably damaging	1.00
R6798:Fbxw17	UTSW	13	50433264	splice site	probably null
R7007:Fbxw17	UTSW	13	50423772	missense	probably damaging	1.00
R7059:Fbxw17	UTSW	13	50432548	missense	probably damaging	1.00
R7565:Fbxw17	UTSW	13	50433362	missense	probably damaging	1.00
R7685:Fbxw17	UTSW	13	50425644	missense	probably damaging	1.00
R8177:Fbxw17	UTSW	13	50425624	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCCAATCACGTCTATGTGG -3'
(R):5'- GCTTTAGAACCATTCCTTCGAG -3'

Sequencing Primer
(F):5'- CAATCACGTCTATGTGGGTGGTG -3'
(R):5'- GAACCATTCCTTCGAGCAGATGTG -3'

Posted On

2017-10-10