Mutagenetix > Incidental Mutation

Incidental Mutation 'R8320:Fbxw13'

641917

Institutional Source

Beutler Lab

Gene Symbol

Fbxw13

Ensembl Gene

ENSMUSG00000049314

Gene Name

F-box and WD-40 domain protein 13

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R8320 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

109179227-109195975 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 109183066 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 311 (T311K)

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: T311K

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000053786
Gene: ENSMUSG00000049314
AA Change: T311K

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
AA Change: T228K

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000142352
Gene: ENSMUSG00000049314
AA Change: T228K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asb10	A	G	5: 24,537,628		probably null	Het
Bhlhe40	TG	TGG	6: 108,664,857	254	probably null	Het
Clec3a	T	C	8: 114,425,629	V125A	probably benign	Het
Clspn	A	G	4: 126,563,950	D258G	possibly damaging	Het
Cnn3	T	G	3: 121,449,986	L32R	probably damaging	Het
Cntnap5a	T	C	1: 116,446,736	F993L	possibly damaging	Het
Cobl	A	G	11: 12,267,001	S496P	probably damaging	Het
Dmxl2	A	G	9: 54,383,759	V2469A	probably benign	Het
Dpcr1	T	C	17: 35,643,638	T11A	probably benign	Het
Egfr	T	C	11: 16,891,251	F714S	probably damaging	Het
Erap1	G	C	13: 74,666,549	E465Q	probably benign	Het
Ercc6	T	C	14: 32,521,015	V204A	probably benign	Het
Fbln2	C	T	6: 91,257,767	T689I	possibly damaging	Het
Foxj2	T	A	6: 122,833,690	S210T	probably benign	Het
Gnl1	A	G	17: 35,982,598	N225S	probably damaging	Het
Grid2	T	C	6: 63,256,933	I26T	probably benign	Het
Gzmd	A	G	14: 56,129,733	I234T	probably benign	Het
Igkv2-137	GA	GAA	6: 67,556,170		probably null	Het
Kif26b	T	C	1: 178,884,076		probably null	Het
Klk1b1	C	T	7: 43,970,343	R109C	possibly damaging	Het
Klra10	A	G	6: 130,269,248	C255R	probably damaging	Het
Lgi4	T	C	7: 31,068,941	V455A	probably benign	Het
Neb	C	A	2: 52,296,331	V910L	probably benign	Het
Pigg	G	A	5: 108,347,851	R918H	probably benign	Het
Poln	A	G	5: 34,149,827	V10A	possibly damaging	Het
Polr1a	T	A	6: 71,941,384	M642K	probably damaging	Het
Rasal1	C	T	5: 120,666,355	R431C	probably benign	Het
Rfc1	A	T	5: 65,303,036	Y167*	probably null	Het
Rnf17	TG	T	14: 56,424,542	132	probably null	Het
Sars2	C	T	7: 28,746,868	T174I	probably damaging	Het
Sept4	T	C	11: 87,589,734	V398A	possibly damaging	Het
Slc6a2	C	T	8: 92,992,848	T397I	probably benign	Het
Smarca4	G	T	9: 21,677,502	R1200L	probably benign	Het
Stx7	G	T	10: 24,179,148	A63S	probably damaging	Het
Sval3	G	A	6: 41,972,524	V99I	probably benign	Het
Syna	A	G	5: 134,559,720	I125T	possibly damaging	Het
Syne2	T	C	12: 76,103,830	S1827P	probably damaging	Het
Taf4b	T	C	18: 14,783,692	V33A	possibly damaging	Het
Tpcn2	C	T	7: 145,266,622	R373H	possibly damaging	Het
Trpm1	A	G	7: 64,268,793	D1511G	possibly damaging	Het
Ttc3	C	A	16: 94,418,676	R487S	probably damaging	Het
Tubb3	T	C	8: 123,420,855	S176P	possibly damaging	Het
Zfp189	C	G	4: 49,530,180	Q428E	probably benign	Het
Zscan4d	C	T	7: 11,066,015	V316M	probably benign	Het

Other mutations in Fbxw13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02033:Fbxw13	APN	9	109181416	missense	probably damaging	0.99
IGL02455:Fbxw13	APN	9	109183187	missense	probably benign	0.26
IGL03154:Fbxw13	APN	9	109181465	missense	probably damaging	0.96
R0304:Fbxw13	UTSW	9	109194721	missense	probably benign	0.02
R1259:Fbxw13	UTSW	9	109185371	missense	probably damaging	1.00
R1710:Fbxw13	UTSW	9	109181518	missense	probably damaging	1.00
R1912:Fbxw13	UTSW	9	109181543	missense	probably benign	0.10
R2877:Fbxw13	UTSW	9	109181466	missense	probably damaging	1.00
R2878:Fbxw13	UTSW	9	109181466	missense	probably damaging	1.00
R3085:Fbxw13	UTSW	9	109184231	nonsense	probably null
R4321:Fbxw13	UTSW	9	109181435	missense	probably benign	0.10
R4969:Fbxw13	UTSW	9	109181524	splice site	probably null
R5024:Fbxw13	UTSW	9	109179335	missense	probably benign	0.00
R5450:Fbxw13	UTSW	9	109184157	missense	probably benign	0.41
R5957:Fbxw13	UTSW	9	109192666	critical splice donor site	probably null
R6801:Fbxw13	UTSW	9	109194727	missense	probably null	1.00
R7448:Fbxw13	UTSW	9	109185403	missense	unknown
R7710:Fbxw13	UTSW	9	109195900	missense	probably damaging	1.00
R8163:Fbxw13	UTSW	9	109183054	missense	probably benign	0.45
R8714:Fbxw13	UTSW	9	109194764	missense	probably benign	0.00
R8845:Fbxw13	UTSW	9	109194765	missense	possibly damaging	0.85
R8884:Fbxw13	UTSW	9	109181401	missense	probably benign	0.00
R8979:Fbxw13	UTSW	9	109184129	missense	probably damaging	0.96
R9223:Fbxw13	UTSW	9	109195048	missense	probably damaging	1.00
R9318:Fbxw13	UTSW	9	109179314	missense	probably benign	0.17
X0065:Fbxw13	UTSW	9	109192708	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GCACATGCTAAACTATCTTTTCAGC -3'
(R):5'- TGAAAGCCCCTCATGTGGAG -3'

Sequencing Primer
(F):5'- GCTCCATCTTTCTGTTTGTGAGACAG -3'
(R):5'- GCCAGGCTGCAGAGATTTTCTC -3'

Posted On

2020-07-28