Mutagenetix > Incidental Mutation

Incidental Mutation 'R8163:Fbxw13'

633629

Institutional Source

Beutler Lab

Gene Symbol

Fbxw13

Ensembl Gene

ENSMUSG00000049314

Gene Name

F-box and WD-40 domain protein 13

Synonyms

MMRRC Submission

067589-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R8163 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

109008295-109025043 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 109012122 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 315 (T315I)

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: T315I

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000053786
Gene: ENSMUSG00000049314
AA Change: T315I

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

possibly damaging
Transcript: ENSMUST00000199102
AA Change: T232I

PolyPhen 2 Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000142352
Gene: ENSMUSG00000049314
AA Change: T232I

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: 99.4%
20x: 98.2%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930022D16Rik	A	G	11: 109,304,883 (GRCm39)	I11V	unknown	Het
Ago3	G	T	4: 126,262,377 (GRCm39)	T391K	probably benign	Het
Asap1	A	G	15: 63,963,899 (GRCm39)	W1100R	probably damaging	Het
Bbof1	T	C	12: 84,473,536 (GRCm39)	S289P	possibly damaging	Het
Cd3d	T	C	9: 44,896,952 (GRCm39)	F109L	probably benign	Het
Cebpd	A	T	16: 15,705,841 (GRCm39)	E218V	probably damaging	Het
Cfl1	T	C	19: 5,543,528 (GRCm39)		probably benign	Het
Cpa2	A	C	6: 30,564,350 (GRCm39)	I394L	probably damaging	Het
Ddx50	C	A	10: 62,475,678 (GRCm39)	V348F	possibly damaging	Het
Dnajc28	G	A	16: 91,413,795 (GRCm39)	R150*	probably null	Het
Echs1	A	G	7: 139,692,357 (GRCm39)	V130A	possibly damaging	Het
Eif2s2	A	G	2: 154,734,621 (GRCm39)	S2P	probably benign	Het
Fastk	A	G	5: 24,649,273 (GRCm39)	I38T	probably benign	Het
Fat3	G	A	9: 15,871,055 (GRCm39)	R3779C	probably damaging	Het
Fat4	A	T	3: 39,033,881 (GRCm39)	N2511I	possibly damaging	Het
Fzd5	A	T	1: 64,774,352 (GRCm39)	Y470N	probably damaging	Het
G530012D18Rik	C	G	1: 85,504,935 (GRCm39)	D113E	unknown	Het
Gpr25	T	C	1: 136,187,596 (GRCm39)	D339G	probably damaging	Het
Igsf9b	T	A	9: 27,233,907 (GRCm39)		probably null	Het
Il5	T	A	11: 53,614,813 (GRCm39)	M125K	possibly damaging	Het
Iqub	G	A	6: 24,449,714 (GRCm39)	T717I	probably benign	Het
Katnb1	T	C	8: 95,823,014 (GRCm39)	F403S	probably damaging	Het
Krt26	T	C	11: 99,220,498 (GRCm39)	I451V	probably benign	Het
Krt88	T	C	15: 101,351,389 (GRCm39)	L132P	probably damaging	Het
Kynu	G	T	2: 43,518,966 (GRCm39)	G245V	probably damaging	Het
Lap3	C	T	5: 45,669,389 (GRCm39)	R513*	probably null	Het
Lin9	C	T	1: 180,486,691 (GRCm39)	R126W	probably damaging	Het
Lrrc37	A	T	11: 103,506,688 (GRCm39)	I1760K	unknown	Het
Lrrtm2	C	T	18: 35,346,777 (GRCm39)	R175H	probably damaging	Het
N4bp2l2	A	G	5: 150,584,774 (GRCm39)	L60P	probably damaging	Het
Ncr1	T	C	7: 4,343,828 (GRCm39)	F142S	probably damaging	Het
Nktr	TAGAAG	TAG	9: 121,579,929 (GRCm39)		probably benign	Het
Or5b95	A	G	19: 12,657,552 (GRCm39)	I27V	probably benign	Het
Parp16	T	A	9: 65,137,231 (GRCm39)	H152Q	probably damaging	Het
Plaa	C	G	4: 94,457,640 (GRCm39)	V777L	probably benign	Het
Prnp	A	G	2: 131,778,908 (GRCm39)	T187A	probably benign	Het
Pzp	T	G	6: 128,489,157 (GRCm39)	I485L	probably benign	Het
Rc3h1	T	A	1: 160,782,629 (GRCm39)	Y703N	probably damaging	Het
Rngtt	G	A	4: 33,325,109 (GRCm39)	C110Y	probably damaging	Het
Rps10	G	A	17: 27,853,085 (GRCm39)	R95C	probably benign	Het
Scn9a	T	A	2: 66,314,745 (GRCm39)	I1658F	probably damaging	Het
Sec16a	A	T	2: 26,306,433 (GRCm39)	W702R		Het
Taf6	G	T	5: 138,180,238 (GRCm39)	Q339K	possibly damaging	Het
Tbcd	C	T	11: 121,384,711 (GRCm39)	T315M	probably benign	Het
Tmem198	C	T	1: 75,459,671 (GRCm39)	P209S	possibly damaging	Het
Vmn2r78	G	A	7: 86,603,660 (GRCm39)	A613T	probably damaging	Het
Vps13c	G	A	9: 67,857,720 (GRCm39)	E2651K	probably benign	Het
Wdfy4	C	T	14: 32,873,545 (GRCm39)	V255I		Het
Zfhx3	A	G	8: 109,675,925 (GRCm39)	D2325G	probably damaging	Het
Zfp36l2	T	C	17: 84,494,551 (GRCm39)	N29D	possibly damaging	Het
Zfp692	T	A	11: 58,201,199 (GRCm39)		probably null	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
R4321:Fbxw13	UTSW	9	109,010,503 (GRCm39)	missense	probably benign	0.10
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
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'- GCACATGCTAAACTATCTTTTCAGC -3'
(R):5'- TGCCAGGCTGCAGAGATTTTC -3'

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

Posted On

2020-07-13