Mutagenetix > Incidental Mutations

Incidental Mutation 'R0364:Fbxw17'

30245

Institutional Source

Beutler Lab

Gene Symbol

Fbxw17

Ensembl Gene

ENSMUSG00000037816

Gene Name

F-box and WD-40 domain protein 17

Synonyms

MMRRC Submission

038570-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0364 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50417864-50433780 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 50432441 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 40 (S40P)

Ref Sequence

ENSEMBL: ENSMUSP00000134899 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046974
AA Change: V393A

PolyPhen 2 Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000041750
Gene: ENSMUSG00000037816
AA Change: V393A

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

possibly damaging
Transcript: ENSMUST00000176543
AA Change: S40P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

unknown
Transcript: ENSMUST00000176772
AA Change: S49P

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177233

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177541

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185962

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.3%
20x: 89.3%

Validation Efficiency

99% (86/87)

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp7	G	A	7: 28,611,128		probably benign	Het
Ano7	A	G	1: 93,388,658	D221G	probably benign	Het
Arhgef12	A	T	9: 43,018,401	N199K	probably damaging	Het
Arpc2	A	G	1: 74,236,887	N26S	probably null	Het
BC017158	C	T	7: 128,290,614	R1H	probably damaging	Het
Camta2	G	A	11: 70,683,310	T127I	probably damaging	Het
Ccdc13	T	A	9: 121,798,216	N665I	probably damaging	Het
Ccdc178	C	T	18: 21,915,062	R757H	probably damaging	Het
Cfap52	A	C	11: 67,953,610	I93S	possibly damaging	Het
Cmklr1	A	T	5: 113,614,517	L141H	probably damaging	Het
Crybb3	T	A	5: 113,075,953	I197F	probably damaging	Het
Cryzl1	G	A	16: 91,707,267	P97S	probably benign	Het
Cubn	T	C	2: 13,310,507		probably benign	Het
Cyp2d37-ps	T	C	15: 82,690,052		noncoding transcript	Het
Cyp4a12b	C	A	4: 115,432,920	N223K	probably benign	Het
Dennd2a	T	C	6: 39,508,299	T349A	probably benign	Het
Dnah12	A	G	14: 26,724,473	T730A	probably benign	Het
Dock5	G	A	14: 67,822,680		probably benign	Het
Elac2	A	G	11: 64,979,310	Y67C	probably damaging	Het
Elmo1	A	T	13: 20,564,493	K503*	probably null	Het
Endou	A	T	15: 97,718,973		probably benign	Het
Eng	T	C	2: 32,679,137	S559P	probably benign	Het
Epc2	T	A	2: 49,537,133	V563E	possibly damaging	Het
Flt4	A	T	11: 49,636,991	M924L	probably benign	Het
Fyb	A	G	15: 6,580,791	K282E	probably damaging	Het
Gabpa	T	A	16: 84,857,387	N317K	possibly damaging	Het
Gli3	G	T	13: 15,724,764	G912V	probably benign	Het
Gm10295	C	A	7: 71,350,613	C73F	unknown	Het
Gm10382	G	T	5: 125,389,664		probably benign	Het
Gp1ba	T	C	11: 70,640,458		probably benign	Het
Gpr146	G	A	5: 139,379,178		probably benign	Het
Grm5	A	G	7: 88,074,386	Y628C	probably damaging	Het
Hexa	A	G	9: 59,563,935	N491D	probably benign	Het
Hexdc	T	A	11: 121,212,143	H62Q	probably benign	Het
Hpx	G	T	7: 105,596,264	Q101K	probably benign	Het
Ino80	G	A	2: 119,382,960	R1249C	probably damaging	Het
Inpp4b	A	T	8: 81,997,314	T492S	probably benign	Het
Iqgap2	A	C	13: 95,731,275		probably benign	Het
Islr2	T	C	9: 58,199,744	T78A	possibly damaging	Het
Itga9	A	G	9: 118,841,142	T177A	probably benign	Het
Itpkc	A	C	7: 27,227,749	S247A	possibly damaging	Het
Kirrel	T	C	3: 87,089,799	Y287C	probably damaging	Het
Kiz	T	G	2: 146,942,156	S536R	probably benign	Het
Klhl9	T	G	4: 88,720,290	K571N	probably benign	Het
Kprp	A	T	3: 92,824,335	Y469*	probably null	Het
Ksr1	A	T	11: 79,029,025		probably benign	Het
Lrrc37a	C	T	11: 103,500,640	V1320I	possibly damaging	Het
Ltf	A	T	9: 111,025,167	N350I	probably benign	Het
Msl3l2	G	A	10: 56,115,851	R224Q	possibly damaging	Het
Myh6	A	T	14: 54,948,347	Y1490*	probably null	Het
Necap1	A	G	6: 122,880,769		probably benign	Het
Nf1	A	T	11: 79,441,957	K810*	probably null	Het
Nkx6-3	A	G	8: 23,157,706	E227G	possibly damaging	Het
Nlrp1a	T	A	11: 71,114,004		probably benign	Het
Obscn	G	A	11: 59,128,281	A969V	probably benign	Het
Olfr1080	A	T	2: 86,553,779	L115Q	probably damaging	Het
Olfr850	G	A	9: 19,477,972	Q90*	probably null	Het
Olfr889	A	G	9: 38,116,029	T78A	probably benign	Het
Olfr96	T	C	17: 37,226,043	L306P	possibly damaging	Het
Pcdhb17	C	A	18: 37,485,835	A226E	possibly damaging	Het
Phldb1	A	T	9: 44,699,335		probably benign	Het
Plekha5	G	A	6: 140,591,747	R646K	possibly damaging	Het
Pon2	G	A	6: 5,266,156	Q288*	probably null	Het
Prr14	G	A	7: 127,474,579	R205H	probably benign	Het
Ptpn13	C	A	5: 103,533,348	R805S	probably damaging	Het
Pyroxd2	A	T	19: 42,747,553	V62D	probably damaging	Het
Rab37	G	T	11: 115,156,964	C44F	probably damaging	Het
Rbm44	T	C	1: 91,152,347	S52P	probably benign	Het
Scn5a	T	C	9: 119,522,599	D772G	probably damaging	Het
Slc7a5	A	G	8: 121,885,015	F425L	probably benign	Het
Slk	T	A	19: 47,620,189	L527*	probably null	Het
Stpg4	T	A	17: 87,389,714		probably null	Het
Taar6	C	A	10: 23,985,148	V167L	probably benign	Het
Tas2r123	T	A	6: 132,847,681	S180R	probably benign	Het
Tmc2	C	T	2: 130,202,103	R86W	probably benign	Het
Tmem200c	T	A	17: 68,840,548	V42E	probably damaging	Het
Trhde	T	C	10: 114,502,982		probably benign	Het
Tshz1	A	T	18: 84,016,124	I53N	probably benign	Het
Tshz3	A	G	7: 36,770,533	E649G	probably benign	Het
Ttll7	C	A	3: 146,945,181	R719S	possibly damaging	Het
Utp4	T	C	8: 106,898,537		probably benign	Het
Vmn1r35	A	G	6: 66,678,843	I281T	probably damaging	Het
Vps39	T	G	2: 120,345,638	K76T	probably damaging	Het
Wdr60	A	G	12: 116,257,477		probably benign	Het
Whamm	A	G	7: 81,594,051	T674A	probably benign	Het
Zbtb16	A	G	9: 48,743,576		probably benign	Het
Zfp623	T	C	15: 75,948,661	S489P	probably benign	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
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
R6146:Fbxw17	UTSW	13	50432512	missense	probably benign	0.38
R6294:Fbxw17	UTSW	13	50423803	missense	probably benign
R6644:Fbxw17	UTSW	13	50423219	missense	probably damaging	1.00
R6798:Fbxw17	UTSW	13	50433264	intron	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

Predicted Primers

PCR Primer
(F):5'- CAGATTGTCGGGTGAGGCACATAG -3'
(R):5'- TCTACAGACACAGGGCTGGAGAAC -3'

Sequencing Primer
(F):5'- TGGCTCCCAAACGATCCTG -3'
(R):5'- CAGTCAATTAAATTACCTGGCCC -3'

Posted On

2013-04-24