Mutagenetix > Incidental Mutation

Incidental Mutation 'R4321:Fbxw13'

323834

Institutional Source

Beutler Lab

Gene Symbol

Fbxw13

Ensembl Gene

ENSMUSG00000049314

Gene Name

F-box and WD-40 domain protein 13

Synonyms

MMRRC Submission

041662-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R4321 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

109008295-109025043 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 109010503 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 378 (I378M)

Ref Sequence

ENSEMBL: ENSMUSP00000053786 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061456] [ENSMUST00000199102] [ENSMUST00000199118]

AlphaFold

Q8BI57

Predicted Effect

probably benign
Transcript: ENSMUST00000061456
AA Change: I378M

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000053786
Gene: ENSMUSG00000049314
AA Change: I378M

Domain	Start	End	E-Value	Type
FBOX	5	45	9.33e-5	SMART
SCOP:d1gxra_	128	249	8e-7	SMART
Blast:WD40	137	176	2e-7	BLAST
low complexity region	421	432	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000199102

SMART Domains

Protein: ENSMUSP00000142352
Gene: ENSMUSG00000049314

Domain	Start	End	E-Value	Type
SCOP:d1gxra_	45	166	1e-7	SMART
Blast:WD40	54	93	7e-8	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000199118

SMART Domains

Protein: ENSMUSP00000143174
Gene: ENSMUSG00000049314

Domain	Start	End	E-Value	Type
FBOX	5	45	3.25e-4	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

95% (56/59)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	A	T	10: 29,100,887 (GRCm39)	D420V	probably damaging	Het
Als2	A	C	1: 59,206,613 (GRCm39)		probably benign	Het
Ankrd9	A	G	12: 110,943,074 (GRCm39)	L287P	probably damaging	Het
Aoc1l1	T	A	6: 48,953,456 (GRCm39)	D460E	probably damaging	Het
Bbof1	A	T	12: 84,473,902 (GRCm39)	R411*	probably null	Het
Camta2	A	T	11: 70,569,151 (GRCm39)	L598Q	probably damaging	Het
Ccdc178	T	A	18: 22,166,600 (GRCm39)	K530*	probably null	Het
Cep85	G	A	4: 133,859,596 (GRCm39)	T689I	probably damaging	Het
Clvs1	T	C	4: 9,282,029 (GRCm39)		probably benign	Het
Cpped1	T	C	16: 11,705,610 (GRCm39)	T65A	probably benign	Het
Daxx	T	C	17: 34,130,380 (GRCm39)	Y132H	possibly damaging	Het
Dock7	T	C	4: 98,960,691 (GRCm39)	E279G	probably damaging	Het
Dok7	A	T	5: 35,237,141 (GRCm39)		probably benign	Het
Dthd1	A	T	5: 62,976,033 (GRCm39)	I236F	probably damaging	Het
Egf	A	G	3: 129,499,783 (GRCm39)	C285R	probably damaging	Het
Epha4	T	A	1: 77,483,850 (GRCm39)		probably null	Het
Gaa	A	T	11: 119,160,963 (GRCm39)	N2I	probably benign	Het
Gad1	G	A	2: 70,420,174 (GRCm39)	D353N	probably damaging	Het
Ggcx	A	G	6: 72,405,803 (GRCm39)	S545G	probably benign	Het
Gm2663	G	T	6: 40,974,530 (GRCm39)	Q87K	probably damaging	Het
Golga4	A	G	9: 118,385,503 (GRCm39)	E847G	probably damaging	Het
Hipk3	C	A	2: 104,276,916 (GRCm39)	V388L	probably damaging	Het
Ibtk	T	C	9: 85,617,125 (GRCm39)	D149G	possibly damaging	Het
Ice1	A	T	13: 70,751,229 (GRCm39)	V1619E	possibly damaging	Het
Itpr3	A	G	17: 27,330,948 (GRCm39)	E1752G	probably benign	Het
Itsn1	G	A	16: 91,615,440 (GRCm39)		probably benign	Het
Kprp	G	A	3: 92,732,163 (GRCm39)	R296W	probably damaging	Het
Lama1	G	A	17: 68,078,078 (GRCm39)	G1171D	probably benign	Het
Lonp2	A	G	8: 87,392,356 (GRCm39)	H474R	probably damaging	Het
Mark1	G	T	1: 184,630,871 (GRCm39)	D746E	possibly damaging	Het
Mlxipl	C	T	5: 135,164,304 (GRCm39)	Q167*	probably null	Het
Myo3a	A	T	2: 22,271,966 (GRCm39)	N162Y	probably damaging	Het
Myo5a	T	G	9: 75,124,812 (GRCm39)	V1787G	probably damaging	Het
Myorg	C	T	4: 41,498,767 (GRCm39)	V288I	probably benign	Het
Nrxn3	A	T	12: 90,166,005 (GRCm39)	E227V	probably damaging	Het
Orc1	G	A	4: 108,445,973 (GRCm39)	M30I	probably benign	Het
Pira13	A	G	7: 3,825,754 (GRCm39)	S372P	possibly damaging	Het
Rufy2	A	G	10: 62,818,459 (GRCm39)	D5G	probably damaging	Het
Rufy4	A	T	1: 74,171,943 (GRCm39)	D222V	possibly damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Septin1	G	A	7: 126,816,200 (GRCm39)	P77S	probably damaging	Het
Slamf1	T	C	1: 171,602,694 (GRCm39)		probably null	Het
Sox6	A	G	7: 115,179,798 (GRCm39)		probably null	Het
Spef2	A	T	15: 9,679,429 (GRCm39)	I636K	possibly damaging	Het
Tshz2	T	A	2: 169,727,465 (GRCm39)	I218N	possibly damaging	Het
Txnl1	T	C	18: 63,812,561 (GRCm39)	T78A	possibly damaging	Het
Ulk4	T	G	9: 120,903,062 (GRCm39)	R1138S	probably benign	Het
Vamp8	A	C	6: 72,362,536 (GRCm39)	V88G	possibly damaging	Het
Vmn2r63	A	G	7: 42,576,406 (GRCm39)	F469S	probably benign	Het
Zfp850	A	C	7: 27,688,825 (GRCm39)	F461C	probably damaging	Het

Other mutations in Fbxw13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02033:Fbxw13	APN	9	109,010,484 (GRCm39)	missense	probably damaging	0.99
IGL02455:Fbxw13	APN	9	109,012,255 (GRCm39)	missense	probably benign	0.26
IGL03154:Fbxw13	APN	9	109,010,533 (GRCm39)	missense	probably damaging	0.96
R0304:Fbxw13	UTSW	9	109,023,789 (GRCm39)	missense	probably benign	0.02
R1259:Fbxw13	UTSW	9	109,014,439 (GRCm39)	missense	probably damaging	1.00
R1710:Fbxw13	UTSW	9	109,010,586 (GRCm39)	missense	probably damaging	1.00
R1912:Fbxw13	UTSW	9	109,010,611 (GRCm39)	missense	probably benign	0.10
R2877:Fbxw13	UTSW	9	109,010,534 (GRCm39)	missense	probably damaging	1.00
R2878:Fbxw13	UTSW	9	109,010,534 (GRCm39)	missense	probably damaging	1.00
R3085:Fbxw13	UTSW	9	109,013,299 (GRCm39)	nonsense	probably null
R4969:Fbxw13	UTSW	9	109,010,592 (GRCm39)	splice site	probably null
R5024:Fbxw13	UTSW	9	109,008,403 (GRCm39)	missense	probably benign	0.00
R5450:Fbxw13	UTSW	9	109,013,225 (GRCm39)	missense	probably benign	0.41
R5957:Fbxw13	UTSW	9	109,021,734 (GRCm39)	critical splice donor site	probably null
R6801:Fbxw13	UTSW	9	109,023,795 (GRCm39)	missense	probably null	1.00
R7448:Fbxw13	UTSW	9	109,014,471 (GRCm39)	missense	unknown
R7710:Fbxw13	UTSW	9	109,024,968 (GRCm39)	missense	probably damaging	1.00
R8163:Fbxw13	UTSW	9	109,012,122 (GRCm39)	missense	probably benign	0.45
R8320:Fbxw13	UTSW	9	109,012,134 (GRCm39)	missense	probably benign	0.02
R8714:Fbxw13	UTSW	9	109,023,832 (GRCm39)	missense	probably benign	0.00
R8845:Fbxw13	UTSW	9	109,023,833 (GRCm39)	missense	possibly damaging	0.85
R8884:Fbxw13	UTSW	9	109,010,469 (GRCm39)	missense	probably benign	0.00
R8979:Fbxw13	UTSW	9	109,013,197 (GRCm39)	missense	probably damaging	0.96
R9223:Fbxw13	UTSW	9	109,024,116 (GRCm39)	missense	probably damaging	1.00
R9318:Fbxw13	UTSW	9	109,008,382 (GRCm39)	missense	probably benign	0.17
X0065:Fbxw13	UTSW	9	109,021,776 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TGTGAGTAGGCTGGAGTCAATATC -3'
(R):5'- TAGCACACCATGGAAGGAGC -3'

Sequencing Primer
(F):5'- AATTCCAGGAAGTTGGCCTC -3'
(R):5'- CACCATGGAAGGAGCGATATGC -3'

Posted On

2015-06-24