Mutagenetix > Incidental Mutation

Incidental Mutation 'R5957:Fbxw13'

471229

Institutional Source

Beutler Lab

Gene Symbol

Fbxw13

Ensembl Gene

ENSMUSG00000049314

Gene Name

F-box and WD-40 domain protein 13

Synonyms

MMRRC Submission

043246-MU

Accession Numbers

Essential gene?

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

Stock #

R5957 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

109179227-109195975 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 109192666 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142352 (fasta)

Gene Model

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

AlphaFold

Q8BI57

Predicted Effect

probably null
Transcript: ENSMUST00000061456

SMART Domains

Protein: ENSMUSP00000053786
Gene: ENSMUSG00000049314

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 null
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 null
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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,070,161	T1704A	probably benign	Het
Adgrg7	T	A	16: 56,773,427	N142I	probably damaging	Het
Aldh18a1	A	T	19: 40,570,537	Y286*	probably null	Het
Armc4	T	C	18: 7,285,706	E219G	probably benign	Het
Arpp21	T	C	9: 112,185,686	T17A	probably benign	Het
Atp5s	T	C	12: 69,743,784	V185A	probably benign	Het
Bnip2	T	C	9: 69,999,238	I147T	probably damaging	Het
Ccr8	T	C	9: 120,093,827	Y3H	probably damaging	Het
Cenps	C	A	4: 149,130,201		probably benign	Het
Cul7	G	A	17: 46,657,757	G553S	probably damaging	Het
Cyp21a1	A	G	17: 34,803,176	I206T	probably benign	Het
Dennd4b	A	G	3: 90,270,965	D488G	probably damaging	Het
Dip2b	T	C	15: 100,209,694	L1195P	probably benign	Het
Dock5	T	A	14: 67,857,994	H77L	probably benign	Het
Fmnl3	G	A	15: 99,325,910	R302W	probably damaging	Het
Gbf1	G	T	19: 46,246,221		probably null	Het
Gm12794	T	C	4: 101,941,701	F290L	probably benign	Het
Gm4846	T	C	1: 166,486,953	I374V	probably benign	Het
Gsk3b	C	A	16: 38,193,953	P258T	probably damaging	Het
Igsf5	T	C	16: 96,364,049	V8A	probably benign	Het
Il22	T	A	10: 118,205,166	L59Q	probably damaging	Het
Ildr1	T	C	16: 36,725,534	*517Q	probably null	Het
Iqca	T	A	1: 90,080,948	D450V	probably damaging	Het
Itga5	T	C	15: 103,351,429	D647G	probably benign	Het
Myh7	T	G	14: 54,989,078	N408T	probably damaging	Het
Mylk3	T	C	8: 85,328,637	M564V	probably damaging	Het
Nsd2	T	A	5: 33,855,603	M407K	probably damaging	Het
Oprd1	C	T	4: 132,144,163	V75I	probably benign	Het
Poli	G	A	18: 70,517,440	H310Y	probably benign	Het
Ptch1	C	T	13: 63,525,115	R755H	probably damaging	Het
Pygl	A	T	12: 70,199,720	M351K	probably damaging	Het
Serpinb9b	T	C	13: 33,039,848	L341P	possibly damaging	Het
Slc47a1	A	G	11: 61,344,342	V555A	probably benign	Het
Slc8a2	C	A	7: 16,145,284	T565K	possibly damaging	Het
Snx14	T	C	9: 88,403,274	I446V	possibly damaging	Het
Syde1	T	C	10: 78,590,117	Y72C	probably damaging	Het
Trim37	C	T	11: 87,145,551	R138C	probably damaging	Het
Tubgcp5	T	A	7: 55,814,962	S530R	probably benign	Het
Vps13c	T	C	9: 67,954,971	S2957P	probably damaging	Het
Wdr41	T	C	13: 94,997,187		probably null	Het
Zyg11b	T	C	4: 108,245,013	K504E	probably damaging	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
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
R8320:Fbxw13	UTSW	9	109183066	missense	probably benign	0.02
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'- GCCCTGCACAGATGGCTAAG -3'
(R):5'- AACATACCTTCTTCGGTCTGAGTTG -3'

Sequencing Primer
(F):5'- AAGGGACCTGACATCCTCTTGTG -3'
(R):5'- TCGGTCTGAGTTGTCCCTC -3'

Posted On

2017-03-31