Mutagenetix > Incidental Mutation

Incidental Mutation 'R7568:Fbxw16'

585586

Institutional Source

Beutler Lab

Gene Symbol

Fbxw16

Ensembl Gene

ENSMUSG00000074062

Gene Name

F-box and WD-40 domain protein 16

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R7568 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

109432316-109449140 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 109439589 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 244 (Q244H)

Ref Sequence

ENSEMBL: ENSMUSP00000082051 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084984]

AlphaFold

Q497Z0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084984
AA Change: Q244H

PolyPhen 2 Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000082051
Gene: ENSMUSG00000074062
AA Change: Q244H

Domain	Start	End	E-Value	Type
FBOX	5	45	2.72e-6	SMART
SCOP:d1e1aa_	128	249	3e-5	SMART
Blast:WD40	137	176	1e-7	BLAST

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930435E12Rik	T	C	16: 38,828,447	E100G	possibly damaging	Het
Actbl2	T	A	13: 111,255,422	V97E	possibly damaging	Het
Actl7a	A	T	4: 56,744,498	T342S	probably damaging	Het
Alcam	A	G	16: 52,268,386	S554P	probably damaging	Het
Ano3	T	C	2: 110,950,293		probably benign	Het
Atad2b	T	A	12: 5,010,390		probably null	Het
Baz2a	T	C	10: 128,125,270	S1621P	possibly damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,888,136		probably benign	Het
BC028528	GTCACTGGTTCTGTGGTCACTGGTTCTGTG	GTCACTGGTTCTGTGATCACTGGTTCTGTGGTCACTGGTTCTGTG	3: 95,888,151		probably benign	Het
BC028528	GGTTCTGTGGTCACT	GGTTCTGTGGTCACTAGTTCTGTGGTCACT	3: 95,888,172		probably benign	Het
Best1	T	A	19: 9,989,275		probably null	Het
Catip	G	T	1: 74,368,930	E474*	probably null	Het
Comp	A	G	8: 70,373,859	D28G	probably benign	Het
Crebbp	G	A	16: 4,126,489	R600W	probably benign	Het
Cyfip1	A	G	7: 55,872,249		probably null	Het
Ddr1	A	G	17: 35,684,282	S675P	probably damaging	Het
Dhtkd1	A	T	2: 5,922,087		probably null	Het
F2rl1	G	A	13: 95,514,014	A120V	probably damaging	Het
Fam136a	A	G	6: 86,365,802	N24D	probably benign	Het
Fbxw10	C	A	11: 62,875,168	Q755K	probably benign	Het
Gabrg2	T	C	11: 41,916,292	K373E	probably benign	Het
Herc3	G	A	6: 58,843,810	V60I	probably benign	Het
Igkv19-93	T	A	6: 68,736,493	K51*	probably null	Het
Krt23	T	A	11: 99,492,800	K89*	probably null	Het
Mavs	A	G	2: 131,245,475	T298A	probably benign	Het
Mlec	T	C	5: 115,150,122	Y198C	probably damaging	Het
Ncam2	C	A	16: 81,589,801	N689K	probably benign	Het
Nfkbia	A	G	12: 55,491,761	I82T	probably damaging	Het
Olfr104-ps	A	G	17: 37,362,605	I163V	probably benign	Het
Olfr1351	A	T	10: 79,017,507	I62F	probably benign	Het
Olfr527	A	G	7: 140,335,982	N40S	probably damaging	Het
Olfr902	A	G	9: 38,449,646	Y258C	probably damaging	Het
Pom121l2	A	T	13: 21,982,626	I356F	probably benign	Het
Ppip5k1	A	T	2: 121,337,615	L719Q	probably damaging	Het
Satb1	A	T	17: 51,782,724	V365D	possibly damaging	Het
Scrn2	T	C	11: 97,030,886	Y61H	probably damaging	Het
Siglec1	C	T	2: 131,072,682	V1505M	probably damaging	Het
Slc2a10	A	G	2: 165,514,882	N154S	probably damaging	Het
Slc39a10	A	T	1: 46,835,130	H337Q	probably benign	Het
Slc39a12	T	A	2: 14,400,128		probably null	Het
Slc6a6	T	G	6: 91,724,851	L80R	probably damaging	Het
Slit1	T	C	19: 41,601,635	Y1404C	probably damaging	Het
Sowahc	A	G	10: 59,223,299	E419G	probably damaging	Het
Ssh1	T	C	5: 113,957,380		probably null	Het
Stab1	C	A	14: 31,152,595	C952F	probably damaging	Het
Stat5a	T	C	11: 100,875,024	M312T	possibly damaging	Het
Tex2	A	G	11: 106,548,736	I606T	unknown	Het
Vmn1r19	A	G	6: 57,404,828	H122R	possibly damaging	Het
Zfp959	A	G	17: 55,897,886	I308V	probably benign	Het

Other mutations in Fbxw16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02139:Fbxw16	APN	9	109436686	missense	probably benign	0.34
IGL02801:Fbxw16	APN	9	109441076	missense	possibly damaging	0.73
milky_way	UTSW	9	109441250	missense	probably damaging	1.00
R0041:Fbxw16	UTSW	9	109448164	missense	probably damaging	1.00
R0245:Fbxw16	UTSW	9	109436168	missense	possibly damaging	0.93
R0389:Fbxw16	UTSW	9	109432482	missense	probably benign	0.03
R0652:Fbxw16	UTSW	9	109436168	missense	possibly damaging	0.93
R1693:Fbxw16	UTSW	9	109436259	missense	possibly damaging	0.74
R1772:Fbxw16	UTSW	9	109439582	missense	possibly damaging	0.91
R1965:Fbxw16	UTSW	9	109441221	missense	probably damaging	1.00
R2190:Fbxw16	UTSW	9	109436671	missense	probably damaging	1.00
R2334:Fbxw16	UTSW	9	109438361	missense	probably benign	0.16
R3800:Fbxw16	UTSW	9	109436597	missense	probably damaging	0.99
R3976:Fbxw16	UTSW	9	109439629	missense	probably benign	0.42
R4298:Fbxw16	UTSW	9	109446557	missense	probably benign	0.00
R4914:Fbxw16	UTSW	9	109438177	missense	probably benign	0.01
R4948:Fbxw16	UTSW	9	109438347	missense	probably damaging	1.00
R4995:Fbxw16	UTSW	9	109441250	missense	probably damaging	1.00
R5057:Fbxw16	UTSW	9	109441164	missense	probably damaging	1.00
R5077:Fbxw16	UTSW	9	109441049	critical splice donor site	probably null
R5111:Fbxw16	UTSW	9	109436728	missense	probably benign	0.11
R5294:Fbxw16	UTSW	9	109436644	missense	probably benign	0.34
R5901:Fbxw16	UTSW	9	109441217	missense	probably benign	0.06
R6295:Fbxw16	UTSW	9	109448769	intron	probably benign
R6303:Fbxw16	UTSW	9	109449101	missense	probably benign	0.00
R6664:Fbxw16	UTSW	9	109438258	missense	probably benign	0.27
R6670:Fbxw16	UTSW	9	109438212	missense	probably damaging	1.00
R6890:Fbxw16	UTSW	9	109436742	missense	probably benign	0.14
R7056:Fbxw16	UTSW	9	109436284	missense	possibly damaging	0.50
R7073:Fbxw16	UTSW	9	109441055	missense	probably damaging	1.00
R7344:Fbxw16	UTSW	9	109449035	missense	probably benign	0.00
R7396:Fbxw16	UTSW	9	109449023	missense	probably damaging	1.00
R7464:Fbxw16	UTSW	9	109439551	missense	possibly damaging	0.50
R7735:Fbxw16	UTSW	9	109441067	missense	probably damaging	1.00
R7808:Fbxw16	UTSW	9	109448154	missense	probably damaging	0.96
R7998:Fbxw16	UTSW	9	109436698	missense	probably damaging	1.00
R9019:Fbxw16	UTSW	9	109441067	missense	probably damaging	1.00
R9111:Fbxw16	UTSW	9	109436611	missense	probably damaging	1.00
R9216:Fbxw16	UTSW	9	109447819	missense	probably damaging	1.00
R9758:Fbxw16	UTSW	9	109449101	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACATTTGCCATTGTGACTGGTC -3'
(R):5'- CAGTGCAGATAAAACTCCTTCCTC -3'

Sequencing Primer
(F):5'- TGACTGGTCACGTGACTGCTC -3'
(R):5'- TGCAGATAAAACTCCTTCCTCCATAC -3'

Posted On

2019-10-17