Mutagenetix > Incidental Mutation

Incidental Mutation 'R0064:Fbxw14'

34411

Institutional Source

Beutler Lab

Gene Symbol

Fbxw14

Ensembl Gene

ENSMUSG00000105589

Gene Name

F-box and WD-40 domain protein 14

Synonyms

E330009N23Rik, Fbxo12, Fbx12

MMRRC Submission

038356-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.170) question?

Stock #

R0064 (G1)

Quality Score

174

Status

Validated

Chromosome

Chromosomal Location

109270790-109287676 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 109287592 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 16 (Y16*)

Ref Sequence

ENSEMBL: ENSMUSP00000143404 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112041] [ENSMUST00000198844] [ENSMUST00000198928]

AlphaFold

Q8C2Y5

Predicted Effect

probably null
Transcript: ENSMUST00000066901
AA Change: Y16*

SMART Domains

Protein: ENSMUSP00000066613
Gene: ENSMUSG00000054087
AA Change: Y16*

Domain	Start	End	E-Value	Type
FBOX	5	45	3.13e-6	SMART
SCOP:d1tbga_	114	249	4e-9	SMART
Blast:WD40	136	175	3e-6	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000112041
AA Change: Y16*

SMART Domains

Protein: ENSMUSP00000107672
Gene: ENSMUSG00000105589
AA Change: Y16*

Domain	Start	End	E-Value	Type
FBOX	5	45	3.13e-6	SMART
SCOP:d1tbga_	114	208	2e-3	SMART
Blast:WD40	136	175	4e-6	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000198844
AA Change: Y16*

SMART Domains

Protein: ENSMUSP00000143404
Gene: ENSMUSG00000105589
AA Change: Y16*

Domain	Start	End	E-Value	Type
FBOX	5	45	3.13e-6	SMART
SCOP:d1tbga_	114	249	4e-9	SMART
Blast:WD40	136	175	3e-6	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000198928

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	C	11: 110,144,871	L641R	probably damaging	Het
Abca9	G	T	11: 110,144,872	L641M	probably damaging	Het
Abhd18	A	G	3: 40,933,853	I377M	probably benign	Het
Arhgef17	C	A	7: 100,881,354	M1408I	probably benign	Het
Bcl2a1a	G	C	9: 88,957,463	G138A	probably damaging	Het
C4b	A	G	17: 34,738,856	L617P	probably damaging	Het
Ccdc25	T	A	14: 65,854,112	I60K	possibly damaging	Het
Cdk1	T	C	10: 69,345,077	D101G	probably benign	Het
Cdon	A	G	9: 35,489,227	H1079R	probably benign	Het
Cep126	A	T	9: 8,130,182		probably benign	Het
Cic	T	A	7: 25,287,140	S1299T	probably damaging	Het
Cic	C	A	7: 25,287,141	S1299Y	probably damaging	Het
Clstn1	G	A	4: 149,634,796	V361M	probably damaging	Het
Crlf3	A	G	11: 80,057,902	I239T	possibly damaging	Het
Cstf2t	T	A	19: 31,083,299	N78K	probably damaging	Het
Cul1	A	G	6: 47,502,415		probably benign	Het
D430041D05Rik	T	G	2: 104,249,157	T1194P	probably damaging	Het
Fbp2	A	T	13: 62,854,048	F118I	probably damaging	Het
Fgd3	T	G	13: 49,296,425	D116A	possibly damaging	Het
Gm7168	C	T	17: 13,949,859	T496I	probably benign	Het
Hsh2d	G	A	8: 72,200,460	D229N	probably benign	Het
Klhl5	T	A	5: 65,141,288	S137T	probably benign	Het
Knl1	T	A	2: 119,076,243	N1604K	probably benign	Het
Lpcat1	T	A	13: 73,514,466	N463K	probably damaging	Het
Lpl	A	G	8: 68,892,704	H120R	probably damaging	Het
Man1a2	A	T	3: 100,591,883	S412T	possibly damaging	Het
Mcc	C	G	18: 44,519,516		probably benign	Het
Myo18a	G	T	11: 77,847,344	R1704L	probably damaging	Het
Nlrc3	G	T	16: 3,964,087	T486K	possibly damaging	Het
Nrip1	T	A	16: 76,294,670		probably benign	Het
Nutf2	A	G	8: 105,878,809	D92G	probably damaging	Het
Obscn	A	C	11: 59,027,466	V6260G	probably damaging	Het
Olfr320	G	A	11: 58,684,475	V201M	probably benign	Het
Olfr714	T	C	7: 107,074,280	F151L	probably benign	Het
Plce1	T	C	19: 38,780,784		probably null	Het
Pmpca	C	A	2: 26,395,507	D498E	probably benign	Het
Pnpla7	G	T	2: 24,997,227	E28*	probably null	Het
Polg	C	A	7: 79,461,884	W206C	probably damaging	Het
Ptprt	C	T	2: 161,927,791		probably benign	Het
Slc7a14	T	C	3: 31,227,060	D367G	probably damaging	Het
Spata31	T	C	13: 64,922,098	Y687H	probably damaging	Het
Sybu	T	A	15: 44,672,993	T646S	probably benign	Het
Thbs1	A	T	2: 118,123,914		probably null	Het
Tie1	A	G	4: 118,489,701	V2A	possibly damaging	Het
Tma16	A	T	8: 66,476,805	I179K	possibly damaging	Het
Tns3	G	A	11: 8,435,856	Q1381*	probably null	Het
Trank1	A	G	9: 111,343,195	D84G	probably damaging	Het
Ttc3	A	T	16: 94,422,247	H197L	possibly damaging	Het
Urb1	A	G	16: 90,779,140	F843L	probably benign	Het
Vmn1r24	T	G	6: 57,956,018	I172L	probably benign	Het
Vmn2r1	T	A	3: 64,104,788	I690N	possibly damaging	Het
Vmn2r111	T	A	17: 22,572,072	I82L	probably benign	Het
Zfp287	A	T	11: 62,714,938	L370H	possibly damaging	Het
Zfp608	A	T	18: 54,898,816	I684N	probably benign	Het

Other mutations in Fbxw14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01319:Fbxw14	APN	9	109278791	missense	probably damaging	1.00
IGL01351:Fbxw14	APN	9	109274572	missense	possibly damaging	0.47
IGL01654:Fbxw14	APN	9	109286580	splice site	probably benign
K3955:Fbxw14	UTSW	9	109276245	missense	possibly damaging	0.87
R0133:Fbxw14	UTSW	9	109274579	missense	probably benign	0.02
R0975:Fbxw14	UTSW	9	109271239	missense	probably benign	0.00
R1124:Fbxw14	UTSW	9	109276168	missense	possibly damaging	0.48
R1782:Fbxw14	UTSW	9	109278691	missense	possibly damaging	0.94
R2118:Fbxw14	UTSW	9	109274624	splice site	probably benign
R3881:Fbxw14	UTSW	9	109271194	missense	possibly damaging	0.95
R4641:Fbxw14	UTSW	9	109278682	critical splice donor site	probably null
R4915:Fbxw14	UTSW	9	109274524	missense	possibly damaging	0.82
R4952:Fbxw14	UTSW	9	109276201	missense	probably benign	0.01
R6137:Fbxw14	UTSW	9	109276222	missense	probably damaging	1.00
R6187:Fbxw14	UTSW	9	109276264	missense	probably damaging	1.00
R6584:Fbxw14	UTSW	9	109286543	missense	possibly damaging	0.85
R7130:Fbxw14	UTSW	9	109271282	missense	probably benign	0.02
R7845:Fbxw14	UTSW	9	109287603	missense	probably damaging	1.00
R8049:Fbxw14	UTSW	9	109276143	missense	probably damaging	0.98
R8169:Fbxw14	UTSW	9	109277216	missense	probably benign	0.05
R8815:Fbxw14	UTSW	9	109276237	nonsense	probably null
R8816:Fbxw14	UTSW	9	109276237	nonsense	probably null
R8818:Fbxw14	UTSW	9	109287003	start gained	probably benign
R8958:Fbxw14	UTSW	9	109278742	missense	probably damaging	0.99
R8960:Fbxw14	UTSW	9	109285299	missense	possibly damaging	0.74
R9093:Fbxw14	UTSW	9	109276182	missense	probably benign
R9306:Fbxw14	UTSW	9	109271212	missense	probably benign	0.12
R9455:Fbxw14	UTSW	9	109274499	missense	probably benign	0.00
R9563:Fbxw14	UTSW	9	109277267	missense	probably benign	0.00
X0067:Fbxw14	UTSW	9	109276201	missense	probably benign	0.01
Z1177:Fbxw14	UTSW	9	109276246	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TAGCAAGACATCTCCGCAGGGTAG -3'
(R):5'- TGCTCCAACCAAAGGCTGATGG -3'

Sequencing Primer
(F):5'- gggagggaaagaagaaaggaag -3'
(R):5'- CAAAGGCTGATGGCCTGTG -3'

Posted On

2013-05-09