Mutagenetix > Incidental Mutation

Incidental Mutation 'R6277:Fbxw21'

507721

Institutional Source

Beutler Lab

Gene Symbol

Fbxw21

Ensembl Gene

ENSMUSG00000047237

Gene Name

F-box and WD-40 domain protein 21

Synonyms

E330009P21Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R6277 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

109139447-109162041 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 109145555 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 299 (I299K)

Ref Sequence

ENSEMBL: ENSMUSP00000143095 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054925] [ENSMUST00000198076] [ENSMUST00000199540]

AlphaFold

Q8BI38

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054925
AA Change: I299K

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000056358
Gene: ENSMUSG00000047237
AA Change: I299K

Domain	Start	End	E-Value	Type
FBOX	5	45	1.46e-6	SMART
SCOP:d1tbga_	119	249	1e-7	SMART
Blast:WD40	137	176	1e-6	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197401

Predicted Effect

possibly damaging
Transcript: ENSMUST00000198076
AA Change: I299K

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000143095
Gene: ENSMUSG00000047237
AA Change: I299K

Domain	Start	End	E-Value	Type
FBOX	5	45	1.46e-6	SMART
SCOP:d1tbga_	119	249	9e-8	SMART
Blast:WD40	137	176	1e-6	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000199540

SMART Domains

Protein: ENSMUSP00000143200
Gene: ENSMUSG00000047237

Domain	Start	End	E-Value	Type
FBOX	5	45	9e-9	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.2%

Validation Efficiency

96% (70/73)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,663,694	Y105H	possibly damaging	Het
4921539E11Rik	A	T	4: 103,231,471	Y179*	probably null	Het
Abca7	G	C	10: 80,006,158	V1042L	probably benign	Het
Adck5	C	A	15: 76,593,263	T99K	possibly damaging	Het
Adcy5	A	G	16: 35,289,526	T823A	probably benign	Het
Adra1d	G	T	2: 131,561,163	R336S	probably damaging	Het
Arhgap39	A	T	15: 76,735,137	M749K	probably damaging	Het
Arid4a	A	G	12: 71,039,891	R168G	possibly damaging	Het
Atxn10	A	G	15: 85,391,692	T317A	probably benign	Het
Bicc1	T	C	10: 71,027,901	K22E	possibly damaging	Het
Cacna1b	T	G	2: 24,730,796	T281P	probably damaging	Het
Ccdc174	A	T	6: 91,880,291	Q26L	probably damaging	Het
Celf3	T	C	3: 94,485,365	C124R	probably damaging	Het
Cfap44	A	G	16: 44,437,306	E1068G	probably benign	Het
Crybg1	T	A	10: 43,997,259	E1284D	probably benign	Het
Dcbld2	T	A	16: 58,451,756	Y392N	probably damaging	Het
Dcbld2	C	T	16: 58,465,503	P675L	probably damaging	Het
Dnah12	A	T	14: 26,770,482	H1193L	probably damaging	Het
Ern2	A	G	7: 122,186,107	F16L	probably benign	Het
Fam163b	G	T	2: 27,112,751	T78N	probably benign	Het
Foxg1	A	G	12: 49,385,516	N344S	probably benign	Het
Git2	A	G	5: 114,733,247	I202T	probably damaging	Het
Gm11595	G	T	11: 99,772,684	P57T	unknown	Het
Gm11639	G	C	11: 105,010,322	E4422D	possibly damaging	Het
Gm12258	G	A	11: 58,854,287	V15M	probably damaging	Het
Gm13119	A	G	4: 144,363,653	E421G	probably damaging	Het
Gm15056	C	T	8: 20,900,898	G40S	probably damaging	Het
Gm960	G	T	19: 4,627,222	S466*	probably null	Het
Gnal	C	A	18: 67,213,072	H274Q	probably damaging	Het
Hormad2	A	T	11: 4,421,583		probably null	Het
Ighv7-2	A	G	12: 113,912,467	I6T	probably benign	Het
Irf9	A	G	14: 55,607,652	D323G	probably benign	Het
Klhl23	G	T	2: 69,833,752	D482Y	probably damaging	Het
Lama4	A	G	10: 39,106,010	N1745S	probably damaging	Het
Lct	T	A	1: 128,304,237	Y625F	probably benign	Het
Lrrc26	T	C	2: 25,290,104	V39A	probably benign	Het
Mllt6	G	A	11: 97,673,948	A527T	probably damaging	Het
Mrgprb4	T	A	7: 48,198,901	D93V	probably benign	Het
Nlrp5	A	G	7: 23,421,455	D698G	probably damaging	Het
Olfr62	T	A	4: 118,666,323	S269T	probably benign	Het
Pacsin1	T	A	17: 27,705,995		probably null	Het
Padi3	A	T	4: 140,791,161		probably null	Het
Pcdha8	T	C	18: 36,994,358	I631T	probably damaging	Het
Pkn3	G	A	2: 30,082,945	G315D	possibly damaging	Het
Ppfibp1	T	A	6: 147,005,924	D228E	probably benign	Het
Prag1	G	T	8: 36,146,591	R1099L	probably damaging	Het
Prr36	A	G	8: 4,214,746		probably benign	Het
Prrc2c	A	G	1: 162,714,314	S369P	probably benign	Het
Ptprn2	A	G	12: 116,876,180	D441G	probably benign	Het
Slc9c1	G	A	16: 45,606,841		probably benign	Het
Slit1	G	A	19: 41,600,509	T1513I	possibly damaging	Het
Smcr8	C	T	11: 60,778,809	T261M	probably benign	Het
Spata17	G	A	1: 187,193,954	R60*	probably null	Het
Speer4f1	A	G	5: 17,476,243	R40G	probably damaging	Het
Spns3	A	G	11: 72,529,640	V340A	possibly damaging	Het
Srgap3	T	C	6: 112,739,383	I595V	probably benign	Het
Srms	G	A	2: 181,206,245	A489V	possibly damaging	Het
St3gal4	T	C	9: 35,053,262	N169S	probably damaging	Het
Taar5	T	A	10: 23,971,271	V189E	probably damaging	Het
Tbc1d32	G	A	10: 56,195,429	P333L	probably benign	Het
Tet3	G	T	6: 83,368,084	Y1790*	probably null	Het
Ticrr	T	A	7: 79,694,696	H1436Q	probably benign	Het
Ubl7	C	T	9: 57,923,272	L334F	possibly damaging	Het
Unc13a	A	G	8: 71,666,639		probably null	Het
Unc13c	T	C	9: 73,699,169	D1303G	probably damaging	Het
Vmn2r114	A	G	17: 23,290,980	L842P	possibly damaging	Het
Vps35	G	T	8: 85,261,228	Q765K	possibly damaging	Het
Zfp72	G	T	13: 74,372,524	S145*	probably null	Het
Zgrf1	C	T	3: 127,598,812	A1327V	possibly damaging	Het
Zkscan6	T	A	11: 65,828,157	S334R	probably benign	Het

Other mutations in Fbxw21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00679:Fbxw21	APN	9	109161964	missense	probably damaging	1.00
IGL00901:Fbxw21	APN	9	109156399	missense	probably benign	0.00
IGL01377:Fbxw21	APN	9	109146645	nonsense	probably null
IGL01941:Fbxw21	APN	9	109148156	missense	probably benign	0.07
IGL02491:Fbxw21	APN	9	109143819	missense	probably benign
IGL03163:Fbxw21	APN	9	109145484	missense	probably benign	0.01
IGL03377:Fbxw21	APN	9	109139529	missense	probably benign	0.01
R0148:Fbxw21	UTSW	9	109148017	critical splice donor site	probably null
R0328:Fbxw21	UTSW	9	109146585	missense	possibly damaging	0.52
R0909:Fbxw21	UTSW	9	109156408	missense	possibly damaging	0.84
R1506:Fbxw21	UTSW	9	109148189	missense	probably damaging	1.00
R1575:Fbxw21	UTSW	9	109161916	missense	probably benign	0.00
R1615:Fbxw21	UTSW	9	109143726	missense	probably damaging	1.00
R1719:Fbxw21	UTSW	9	109148174	missense	possibly damaging	0.85
R2415:Fbxw21	UTSW	9	109156401	missense	possibly damaging	0.71
R2424:Fbxw21	UTSW	9	109157519	nonsense	probably null
R2508:Fbxw21	UTSW	9	109145485	missense	probably benign	0.31
R2898:Fbxw21	UTSW	9	109156336	missense	possibly damaging	0.52
R2964:Fbxw21	UTSW	9	109145510	missense	probably benign	0.10
R2965:Fbxw21	UTSW	9	109145510	missense	probably benign	0.10
R2966:Fbxw21	UTSW	9	109145510	missense	probably benign	0.10
R4809:Fbxw21	UTSW	9	109143390	missense	probably damaging	1.00
R4911:Fbxw21	UTSW	9	109145663	missense	probably damaging	1.00
R5669:Fbxw21	UTSW	9	109145510	missense	probably benign	0.12
R5928:Fbxw21	UTSW	9	109143825	missense	possibly damaging	0.55
R6043:Fbxw21	UTSW	9	109145539	missense	possibly damaging	0.69
R6805:Fbxw21	UTSW	9	109157565	missense	probably damaging	1.00
R6944:Fbxw21	UTSW	9	109157535	missense	probably damaging	1.00
R7079:Fbxw21	UTSW	9	109145510	missense	probably benign	0.10
R7081:Fbxw21	UTSW	9	109161922	missense	probably damaging	1.00
R7744:Fbxw21	UTSW	9	109157652	missense	possibly damaging	0.81
R7774:Fbxw21	UTSW	9	109143840	missense	probably benign	0.00
R7980:Fbxw21	UTSW	9	109156571	splice site	probably null
R8043:Fbxw21	UTSW	9	109146626	missense	probably benign	0.01
R8260:Fbxw21	UTSW	9	109146546	critical splice donor site	probably null
R9142:Fbxw21	UTSW	9	109156345	missense	probably damaging	1.00
R9172:Fbxw21	UTSW	9	109146696	missense	probably benign	0.00
R9250:Fbxw21	UTSW	9	109143778	missense	probably benign	0.31
R9251:Fbxw21	UTSW	9	109145619	missense	probably damaging	1.00
R9294:Fbxw21	UTSW	9	109143762	missense	probably damaging	0.99
R9303:Fbxw21	UTSW	9	109157659	missense	probably benign
R9479:Fbxw21	UTSW	9	109139544	missense	probably benign	0.00
R9509:Fbxw21	UTSW	9	109148149	missense	possibly damaging	0.90
R9765:Fbxw21	UTSW	9	109146557	missense	possibly damaging	0.71
R9773:Fbxw21	UTSW	9	109148060	missense	possibly damaging	0.89
R9774:Fbxw21	UTSW	9	109161989	start codon destroyed	probably null	0.98
Z1088:Fbxw21	UTSW	9	109145537	missense	probably benign
Z1176:Fbxw21	UTSW	9	109145537	missense	probably benign
Z1177:Fbxw21	UTSW	9	109145537	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCCGTTTGTGAGACAGCAGC -3'
(R):5'- ATTTTGAAAGCCCCTCATGTG -3'

Sequencing Primer
(F):5'- TGTGAGACAGCAGCCTCTATG -3'
(R):5'- TGAAAGCCCCTCATGTGGAGTG -3'

Posted On

2018-03-15