Mutagenetix > Incidental Mutation

Incidental Mutation 'R5975:Fbxw15'

471697

Institutional Source

Beutler Lab

Gene Symbol

Fbxw15

Ensembl Gene

ENSMUSG00000074060

Gene Name

F-box and WD-40 domain protein 15

Synonyms

Fbxo12J

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R5975 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

109552602-109568262 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 109555252 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 397 (V397D)

Ref Sequence

ENSEMBL: ENSMUSP00000058175 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056745] [ENSMUST00000198112] [ENSMUST00000198397]

AlphaFold

L7N1X6

Predicted Effect

probably damaging
Transcript: ENSMUST00000056745
AA Change: V397D

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000058175
Gene: ENSMUSG00000074060
AA Change: V397D

Domain	Start	End	E-Value	Type
FBOX	8	45	3.25e-4	SMART
SCOP:d1flga_	73	413	3e-7	SMART
Blast:WD40	137	176	5e-6	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196601

Predicted Effect

probably benign
Transcript: ENSMUST00000198112

SMART Domains

Protein: ENSMUSP00000142894
Gene: ENSMUSG00000074060

Domain	Start	End	E-Value	Type
FBOX	8	45	2.1e-6	SMART
SCOP:d1tbga_	73	196	3e-5	SMART
Blast:WD40	84	123	1e-5	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000198397
AA Change: V214D

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143385
Gene: ENSMUSG00000074060
AA Change: V214D

Domain	Start	End	E-Value	Type
FBOX	8	45	3.25e-4	SMART
SCOP:d1tbga_	116	240	1e-3	SMART
Blast:WD40	137	176	6e-6	BLAST

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

98% (80/82)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	C	T	3: 36,969,221	T2233I	possibly damaging	Het
9430038I01Rik	T	C	7: 137,387,292		probably benign	Het
Abhd14a	A	T	9: 106,443,951		probably null	Het
Actn2	T	C	13: 12,340,497	N2D	probably benign	Het
Adcy9	T	C	16: 4,311,567	E722G	probably damaging	Het
Alox12	C	A	11: 70,242,783	V572L	possibly damaging	Het
Ankrd11	T	C	8: 122,889,749	I2434V	possibly damaging	Het
Anks1	T	A	17: 27,991,447		probably null	Het
Bpifa3	T	A	2: 154,136,321	S148T	probably damaging	Het
Bptf	C	T	11: 107,035,864		probably benign	Het
Cabin1	A	T	10: 75,657,839	L1655H	probably damaging	Het
Ccdc13	G	T	9: 121,827,235	Q171K	probably benign	Het
Ccdc33	T	A	9: 58,117,478	Q155L	possibly damaging	Het
Cckbr	G	A	7: 105,470,619	G280E	probably benign	Het
Cdk11b	G	A	4: 155,648,240		probably benign	Het
Celsr1	G	T	15: 85,919,038		probably null	Het
Cenpj	A	T	14: 56,564,066	I150N	possibly damaging	Het
Cep135	C	A	5: 76,640,890	A1110E	possibly damaging	Het
Chit1	C	A	1: 134,146,626	H224N	probably damaging	Het
Cul5	T	C	9: 53,622,793	R680G	probably damaging	Het
Dhx58	C	A	11: 100,702,209	R224L	probably damaging	Het
Dlx1	C	A	2: 71,531,009	N122K	probably damaging	Het
Dnah5	A	C	15: 28,234,282	D279A	probably damaging	Het
Enpp3	A	G	10: 24,774,842	W799R	probably benign	Het
Ercc5	A	G	1: 44,173,406	T675A	probably benign	Het
Farsa	T	A	8: 84,864,432		probably null	Het
Fcrl5	G	A	3: 87,442,103	V62I	probably benign	Het
Gart	A	G	16: 91,624,336	S815P	probably damaging	Het
Glrx5	A	G	12: 105,040,323	N111S	possibly damaging	Het
Gm10845	A	G	14: 79,863,174		noncoding transcript	Het
Gm11639	A	G	11: 104,687,549		probably benign	Het
Gm8882	A	G	6: 132,362,073	S61P	unknown	Het
Gm9925	T	A	18: 74,065,516		probably benign	Het
Gsdme	T	C	6: 50,227,359	N206S	probably benign	Het
Helz2	T	C	2: 181,231,050	S2459G	probably benign	Het
Hnrnpul1	A	G	7: 25,754,359	S93P	possibly damaging	Het
Ints2	A	T	11: 86,226,748	I716N	possibly damaging	Het
Lmnb2	G	A	10: 80,905,128	Q248*	probably null	Het
Map3k7cl	A	G	16: 87,570,321	I32V	probably benign	Het
Mfsd4b4	A	T	10: 39,892,470	I255N	probably benign	Het
Myh6	A	G	14: 54,950,508	I1163T	probably benign	Het
Nphs1	A	T	7: 30,466,115	T636S	possibly damaging	Het
Ntsr1	T	A	2: 180,500,788	L124Q	probably damaging	Het
Obscn	C	T	11: 59,122,619		probably null	Het
P4ha2	G	A	11: 54,126,412		probably null	Het
Pcdha9	T	A	18: 36,999,111	V411D	probably benign	Het
Pkhd1l1	A	T	15: 44,525,988	I1380F	probably damaging	Het
Plekha1	T	C	7: 130,892,253	V106A	probably benign	Het
Plekhm1	A	T	11: 103,376,691	V818E	possibly damaging	Het
Pprc1	T	G	19: 46,065,370		probably benign	Het
Prmt9	T	C	8: 77,561,018		probably benign	Het
Rab26	T	C	17: 24,530,399	N193D	possibly damaging	Het
Rnf111	A	G	9: 70,429,580	S942P	probably damaging	Het
Scgb2b18	T	C	7: 33,173,225	T52A	probably damaging	Het
Syt3	C	T	7: 44,392,763	Q349*	probably null	Het
Tas2r107	T	C	6: 131,659,780	N102S	probably benign	Het
Tas2r126	T	A	6: 42,435,000	Y156N	possibly damaging	Het
Tcaf2	A	T	6: 42,642,778	I105N	probably benign	Het
Tet1	A	C	10: 62,879,773	M81R	probably benign	Het
Togaram2	T	C	17: 71,729,205	Y897H	probably damaging	Het
Trerf1	A	T	17: 47,314,271		noncoding transcript	Het
Ttn	G	A	2: 76,761,235	T12703I	probably damaging	Het
Unc79	A	G	12: 103,125,626	K1735E	possibly damaging	Het
Usp54	G	A	14: 20,583,351	T372I	possibly damaging	Het
Wdr24	T	C	17: 25,827,128	S476P	probably benign	Het
Wdr78	G	A	4: 103,049,589	P676S	probably benign	Het
Zbtb1	T	C	12: 76,386,275	I345T	possibly damaging	Het
Zcrb1	T	A	15: 93,395,615	I29L	probably benign	Het
Zfp341	T	A	2: 154,630,441	C315S	probably damaging	Het
Zfp623	C	A	15: 75,948,163	R323S	probably benign	Het
Zfp831	T	A	2: 174,644,092	Y187N	possibly damaging	Het

Other mutations in Fbxw15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02094:Fbxw15	APN	9	109558240	missense	possibly damaging	0.87
IGL02239:Fbxw15	APN	9	109559837	missense	probably benign	0.01
IGL02343:Fbxw15	APN	9	109552655	utr 3 prime	probably benign
IGL02748:Fbxw15	APN	9	109558210	missense	possibly damaging	0.66
IGL03206:Fbxw15	APN	9	109565362	missense	possibly damaging	0.90
IGL03370:Fbxw15	APN	9	109555151	missense	probably benign	0.00
lagging	UTSW	9	109555673	splice site	probably null
R0321:Fbxw15	UTSW	9	109565385	missense	probably benign	0.03
R0742:Fbxw15	UTSW	9	109555556	splice site	probably null
R1141:Fbxw15	UTSW	9	109558246	missense	probably damaging	0.99
R1143:Fbxw15	UTSW	9	109558246	missense	probably damaging	0.99
R1276:Fbxw15	UTSW	9	109558246	missense	probably damaging	0.99
R1282:Fbxw15	UTSW	9	109558246	missense	probably damaging	0.99
R1283:Fbxw15	UTSW	9	109558246	missense	probably damaging	0.99
R1321:Fbxw15	UTSW	9	109558246	missense	probably damaging	0.99
R1324:Fbxw15	UTSW	9	109558246	missense	probably damaging	0.99
R1341:Fbxw15	UTSW	9	109558246	missense	probably damaging	0.99
R1716:Fbxw15	UTSW	9	109557136	missense	probably benign	0.00
R1750:Fbxw15	UTSW	9	109558246	missense	probably damaging	0.99
R1757:Fbxw15	UTSW	9	109557279	missense	probably damaging	0.99
R1765:Fbxw15	UTSW	9	109558246	missense	probably damaging	0.99
R1799:Fbxw15	UTSW	9	109558246	missense	probably damaging	0.99
R1826:Fbxw15	UTSW	9	109559714	splice site	probably null
R1897:Fbxw15	UTSW	9	109558203	nonsense	probably null
R2237:Fbxw15	UTSW	9	109555235	missense	probably damaging	0.99
R2346:Fbxw15	UTSW	9	109565432	missense	probably damaging	1.00
R4391:Fbxw15	UTSW	9	109568232	start gained	probably benign
R4392:Fbxw15	UTSW	9	109568232	start gained	probably benign
R4812:Fbxw15	UTSW	9	109559922	missense	probably benign	0.01
R5198:Fbxw15	UTSW	9	109558174	missense	probably benign	0.00
R5278:Fbxw15	UTSW	9	109555684	missense	probably benign	0.03
R5541:Fbxw15	UTSW	9	109565430	missense	probably benign	0.23
R5899:Fbxw15	UTSW	9	109555673	splice site	probably null
R6065:Fbxw15	UTSW	9	109568178	missense	probably damaging	1.00
R6285:Fbxw15	UTSW	9	109557166	missense	probably benign	0.09
R7357:Fbxw15	UTSW	9	109558240	missense	probably benign	0.28
R7781:Fbxw15	UTSW	9	109557262	missense	possibly damaging	0.71
R8145:Fbxw15	UTSW	9	109555590	missense	probably benign	0.01
R8182:Fbxw15	UTSW	9	109555710	missense	probably benign	0.00
R8272:Fbxw15	UTSW	9	109559760	missense	probably benign	0.18
R8713:Fbxw15	UTSW	9	109555599	missense	possibly damaging	0.93
R9069:Fbxw15	UTSW	9	109565400	nonsense	probably null
R9496:Fbxw15	UTSW	9	109568223	missense	probably benign	0.01
X0026:Fbxw15	UTSW	9	109558187	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CACTGCATTGATGTGAAGGTTG -3'
(R):5'- CATACTGTTGGGGTGTGCAC -3'

Sequencing Primer
(F):5'- TGAAGGTTGTCAGTCAGATCCCC -3'
(R):5'- TGAGCACTTGCAGAGTTCAC -3'

Posted On

2017-03-31