Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02313:Fbxw28'

287865

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fbxw28

Ensembl Gene

ENSMUSG00000054087

Gene Name

F-box and WD-40 domain protein 28

Synonyms

Gm9337

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

IGL02313

Quality Score

Status

Chromosome

Chromosomal Location

109322886-109339659 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 109337352 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 145 (H145Q)

Ref Sequence

ENSEMBL: ENSMUSP00000143357 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112039] [ENSMUST00000112040] [ENSMUST00000196351] [ENSMUST00000200156]

AlphaFold

E9Q8A4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112039
AA Change: H109Q

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000107670
Gene: ENSMUSG00000054087
AA Change: H109Q

Domain	Start	End	E-Value	Type
FBOX	5	45	3.13e-6	SMART
SCOP:d1tbga_	127	249	4e-9	SMART
Blast:WD40	136	175	3e-6	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112040
AA Change: H109Q

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000107671
Gene: ENSMUSG00000054087
AA Change: H109Q

Domain	Start	End	E-Value	Type
FBOX	5	45	3.13e-6	SMART
SCOP:d1tbga_	127	249	4e-9	SMART
Blast:WD40	136	175	4e-6	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000196351
AA Change: H145Q

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000143357
Gene: ENSMUSG00000054087
AA Change: H145Q

Domain	Start	End	E-Value	Type
FBOX	5	45	2e-8	SMART
SCOP:d1aym1_	54	102	2e-3	SMART
Blast:WD40	172	211	5e-6	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000200156
AA Change: H109Q

PolyPhen 2 Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000143361
Gene: ENSMUSG00000054087
AA Change: H109Q

Domain	Start	End	E-Value	Type
FBOX	5	45	2e-8	SMART
SCOP:d1tbga_	127	208	2e-3	SMART
Blast:WD40	136	175	4e-6	BLAST

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd13c	T	A	3: 157,947,934	N136K	probably damaging	Het
Aph1b	A	T	9: 66,790,673		probably benign	Het
Atf7ip	A	G	6: 136,606,720	K1250E	probably damaging	Het
Atp8b2	T	C	3: 89,949,853	N400S	probably damaging	Het
Brca2	C	A	5: 150,538,661	S630Y	probably damaging	Het
Chd6	T	A	2: 160,965,675	E1873V	probably damaging	Het
Chrna10	T	C	7: 102,112,029		probably benign	Het
Col6a3	A	G	1: 90,811,606	L907P	probably damaging	Het
Cxcr6	A	G	9: 123,810,705	N264S	probably damaging	Het
Dgkg	A	G	16: 22,570,230		probably benign	Het
Dpysl2	T	G	14: 66,824,390	M256L	probably benign	Het
Dsp	G	T	13: 38,196,523	E1816*	probably null	Het
Fam129c	A	G	8: 71,602,860	R305G	possibly damaging	Het
Fam13b	T	C	18: 34,454,656	K530E	probably damaging	Het
Fam49a	A	G	12: 12,364,751	T248A	possibly damaging	Het
Fastk	T	C	5: 24,443,092	H242R	probably damaging	Het
Heatr6	T	C	11: 83,778,892	L910P	probably damaging	Het
Hmcn2	A	G	2: 31,453,605	T4642A	possibly damaging	Het
Hspg2	A	G	4: 137,508,389	T167A	probably benign	Het
Igsf10	A	G	3: 59,330,690	L690P	probably benign	Het
Klhdc10	G	A	6: 30,439,866		probably null	Het
Krt31	A	G	11: 100,048,396	Y232H	probably damaging	Het
Lsm3	A	G	6: 91,516,088		probably benign	Het
Mfn2	T	A	4: 147,885,490	I375F	probably damaging	Het
Mfrp	A	T	9: 44,102,874	I180F	probably damaging	Het
Msh3	T	C	13: 92,349,312	E168G	possibly damaging	Het
Naa16	A	T	14: 79,384,668	V77D	probably damaging	Het
Nav2	T	C	7: 49,558,773	S1570P	probably damaging	Het
Numa1	C	T	7: 102,000,232	R1057*	probably null	Het
Nup210l	G	A	3: 90,122,792	A271T	probably damaging	Het
Ogdh	T	C	11: 6,355,400	V965A	probably damaging	Het
Olfr63	C	A	17: 33,269,665	Q314K	probably benign	Het
Olfr734	A	T	14: 50,320,016	V273E	probably damaging	Het
Olfr818	A	G	10: 129,945,903	L53P	probably damaging	Het
Olfr836	A	T	9: 19,121,375	N140I	probably damaging	Het
Olfr916	T	A	9: 38,658,066	I109F	probably damaging	Het
Pdp2	A	T	8: 104,594,899	Q460L	probably benign	Het
Pex5l	T	C	3: 32,992,992	T270A	probably benign	Het
Pkp4	C	T	2: 59,310,254	Q435*	probably null	Het
Prss32	G	A	17: 23,856,122	V149M	probably benign	Het
Riox2	C	A	16: 59,489,417	P378Q	probably benign	Het
Rita1	C	T	5: 120,609,793	A147T	probably damaging	Het
Rsph4a	T	A	10: 33,905,525	S124T	possibly damaging	Het
Sdccag8	G	A	1: 176,824,755	R24H	possibly damaging	Het
Slc22a1	C	A	17: 12,675,500	G54*	probably null	Het
Slc24a5	C	T	2: 125,085,647		probably benign	Het
Tex101	C	T	7: 24,668,325	V201M	probably damaging	Het
Tmprss7	T	C	16: 45,681,593	Y223C	probably damaging	Het
Trpc4ap	T	C	2: 155,650,468	E382G	probably damaging	Het
Uggt1	A	T	1: 36,184,484	Y575N	probably damaging	Het
Vmn2r70	T	C	7: 85,565,168	I259V	probably damaging	Het
Xpo1	T	A	11: 23,277,065	N131K	probably damaging	Het
Zfp579	C	T	7: 4,994,433	V160M	probably benign	Het
Zfp697	A	G	3: 98,425,450	D64G	probably benign	Het
Zfp974	T	C	7: 27,912,253	T16A	possibly damaging	Het

Other mutations in Fbxw28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01883:Fbxw28	APN	9	109328325	missense	probably benign	0.05
IGL02080:Fbxw28	APN	9	109339573	missense	probably damaging	1.00
R0029:Fbxw28	UTSW	9	109328289	missense	probably damaging	1.00
R0038:Fbxw28	UTSW	9	109338540	missense	probably damaging	1.00
R0058:Fbxw28	UTSW	9	109328211	missense	probably benign	0.22
R1288:Fbxw28	UTSW	9	109337293	missense	probably damaging	0.97
R1898:Fbxw28	UTSW	9	109323384	missense	probably benign	0.32
R2065:Fbxw28	UTSW	9	109328224	missense	probably benign	0.03
R2117:Fbxw28	UTSW	9	109330917	missense	probably benign	0.04
R3410:Fbxw28	UTSW	9	109338404	missense	possibly damaging	0.55
R3812:Fbxw28	UTSW	9	109338530	missense	possibly damaging	0.83
R4400:Fbxw28	UTSW	9	109328310	missense	probably damaging	1.00
R4840:Fbxw28	UTSW	9	109339534	missense	probably null	1.00
R4899:Fbxw28	UTSW	9	109330853	missense	probably damaging	0.99
R5129:Fbxw28	UTSW	9	109326603	missense	probably damaging	1.00
R5613:Fbxw28	UTSW	9	109338533	missense	probably benign	0.02
R5777:Fbxw28	UTSW	9	109338536	missense	probably damaging	0.98
R6029:Fbxw28	UTSW	9	109329425	missense	probably damaging	1.00
R6235:Fbxw28	UTSW	9	109326190	missense	probably damaging	1.00
R6367:Fbxw28	UTSW	9	109339531	critical splice donor site	probably null
R6820:Fbxw28	UTSW	9	109338425	missense	probably damaging	1.00
R6968:Fbxw28	UTSW	9	109330788	missense	probably benign	0.00
R7763:Fbxw28	UTSW	9	109326633	missense	probably damaging	0.96
R8104:Fbxw28	UTSW	9	109326289	splice site	probably null
R8407:Fbxw28	UTSW	9	109326201	missense	probably benign
R8414:Fbxw28	UTSW	9	109326536	nonsense	probably null
R8721:Fbxw28	UTSW	9	109328314	missense	probably benign	0.15
R8766:Fbxw28	UTSW	9	109326681	missense	probably benign	0.15
R8955:Fbxw28	UTSW	9	109338789	critical splice acceptor site	probably null
R9609:Fbxw28	UTSW	9	109338447	missense	probably benign	0.06
RF024:Fbxw28	UTSW	9	109338526	nonsense	probably null

Posted On

2015-04-16