Mutagenetix > Incidental Mutation

Incidental Mutation 'R1026:Fbxw10'

94981

Institutional Source

Beutler Lab

Gene Symbol

Fbxw10

Ensembl Gene

ENSMUSG00000090173

Gene Name

F-box and WD-40 domain protein 10

Synonyms

SM2SH2, SM25H2, Fbw10

MMRRC Submission

039128-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R1026 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62737895-62768291 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62765997 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 756 (T756A)

Ref Sequence

ENSEMBL: ENSMUSP00000135870 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014321] [ENSMUST00000036085] [ENSMUST00000150989] [ENSMUST00000176577] [ENSMUST00000177336]

AlphaFold

Q5SUS0

Predicted Effect

probably benign
Transcript: ENSMUST00000014321

SMART Domains

Protein: ENSMUSP00000014321
Gene: ENSMUSG00000014177

Domain	Start	End	E-Value	Type
Pfam:DUF846	32	174	9.5e-58	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000036085
AA Change: T761A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000046156
Gene: ENSMUSG00000090173
AA Change: T761A

Domain	Start	End	E-Value	Type
low complexity region	262	274	N/A	INTRINSIC
Blast:FBOX	286	326	6e-14	BLAST
Blast:WD40	416	453	2e-8	BLAST
WD40	457	496	1.78e-5	SMART
WD40	499	536	5.55e-7	SMART
WD40	539	575	2.84e-4	SMART
WD40	578	615	3.81e-5	SMART
WD40	620	656	6.9e-1	SMART
low complexity region	709	724	N/A	INTRINSIC
coiled coil region	964	992	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127646

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128698

Predicted Effect

probably benign
Transcript: ENSMUST00000150989
AA Change: T751A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000117872
Gene: ENSMUSG00000090173
AA Change: T751A

Domain	Start	End	E-Value	Type
low complexity region	262	274	N/A	INTRINSIC
Blast:FBOX	286	326	1e-13	BLAST
Blast:WD40	406	443	2e-8	BLAST
WD40	447	486	1.78e-5	SMART
WD40	489	526	5.55e-7	SMART
WD40	529	565	2.84e-4	SMART
WD40	568	605	3.81e-5	SMART
WD40	610	646	6.9e-1	SMART
low complexity region	699	714	N/A	INTRINSIC
coiled coil region	954	982	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154176

Predicted Effect

probably benign
Transcript: ENSMUST00000176577
AA Change: T756A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000135870
Gene: ENSMUSG00000090173
AA Change: T756A

Domain	Start	End	E-Value	Type
low complexity region	262	274	N/A	INTRINSIC
Blast:FBOX	286	326	6e-14	BLAST
Blast:WD40	406	443	2e-8	BLAST
WD40	447	486	1.78e-5	SMART
WD40	489	526	5.55e-7	SMART
WD40	529	565	2.84e-4	SMART
WD40	568	605	3.81e-5	SMART
WD40	610	646	6.9e-1	SMART
low complexity region	704	719	N/A	INTRINSIC
coiled coil region	959	987	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000177336

SMART Domains

Protein: ENSMUSP00000135294
Gene: ENSMUSG00000090173

Domain	Start	End	E-Value	Type
low complexity region	262	274	N/A	INTRINSIC
Blast:FBOX	286	326	5e-14	BLAST
Blast:WD40	406	443	1e-8	BLAST
WD40	447	486	1.78e-5	SMART
WD40	489	526	5.55e-7	SMART
WD40	529	565	2.84e-4	SMART
WD40	568	605	3.81e-5	SMART
WD40	610	646	6.9e-1	SMART

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.5%
20x: 87.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the F-box protein family, such as FBXW10, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alyref	C	G	11: 120,486,758 (GRCm39)	V168L	probably damaging	Het
Cdc42bpg	T	C	19: 6,367,217 (GRCm39)	C919R	probably damaging	Het
Cgnl1	A	G	9: 71,624,713 (GRCm39)	S620P	possibly damaging	Het
Fsip2	T	C	2: 82,818,805 (GRCm39)	I4846T	possibly damaging	Het
Hebp2	G	T	10: 18,420,163 (GRCm39)	T90K	possibly damaging	Het
Map4k5	T	C	12: 69,921,062 (GRCm39)	K52R	possibly damaging	Het
Neb	T	A	2: 52,154,122 (GRCm39)	M2330L	possibly damaging	Het
Or14a258	T	A	7: 86,035,467 (GRCm39)	M134L	probably damaging	Het
Or8k21	T	C	2: 86,145,558 (GRCm39)	Q24R	possibly damaging	Het
Plekhf1	C	A	7: 37,921,065 (GRCm39)	A168S	probably benign	Het
Ppp1r12a	A	G	10: 108,087,720 (GRCm39)	T58A	probably benign	Het
Prss23	T	A	7: 89,159,166 (GRCm39)	Y301F	probably benign	Het
R3hdm1	A	G	1: 128,124,742 (GRCm39)	Y343C	probably damaging	Het
Zcchc17	C	T	4: 130,223,403 (GRCm39)	V128I	possibly damaging	Het
Zfp960	T	A	17: 17,308,518 (GRCm39)	C411S	probably damaging	Het

Other mutations in Fbxw10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00941:Fbxw10	APN	11	62,764,327 (GRCm39)	missense	probably damaging	1.00
IGL01552:Fbxw10	APN	11	62,748,510 (GRCm39)	critical splice acceptor site	probably null
IGL01625:Fbxw10	APN	11	62,750,853 (GRCm39)	missense	probably damaging	1.00
IGL01960:Fbxw10	APN	11	62,767,582 (GRCm39)	missense	probably damaging	1.00
IGL02457:Fbxw10	APN	11	62,765,808 (GRCm39)	missense	probably damaging	1.00
IGL02475:Fbxw10	APN	11	62,748,561 (GRCm39)	missense	possibly damaging	0.94
IGL02864:Fbxw10	APN	11	62,764,349 (GRCm39)	missense	probably damaging	1.00
R0083:Fbxw10	UTSW	11	62,767,887 (GRCm39)	missense	probably benign	0.00
R0108:Fbxw10	UTSW	11	62,767,887 (GRCm39)	missense	probably benign	0.00
R0147:Fbxw10	UTSW	11	62,738,307 (GRCm39)	splice site	probably null
R0180:Fbxw10	UTSW	11	62,743,922 (GRCm39)	missense	probably benign	0.09
R0196:Fbxw10	UTSW	11	62,768,070 (GRCm39)	missense	probably benign	0.01
R0454:Fbxw10	UTSW	11	62,767,564 (GRCm39)	missense	possibly damaging	0.53
R0529:Fbxw10	UTSW	11	62,750,671 (GRCm39)	missense	probably damaging	1.00
R0791:Fbxw10	UTSW	11	62,738,282 (GRCm39)	missense	probably benign	0.18
R0927:Fbxw10	UTSW	11	62,767,770 (GRCm39)	missense	probably damaging	0.98
R1448:Fbxw10	UTSW	11	62,738,418 (GRCm39)	missense	possibly damaging	0.74
R1468:Fbxw10	UTSW	11	62,753,464 (GRCm39)	missense	probably damaging	1.00
R1468:Fbxw10	UTSW	11	62,753,464 (GRCm39)	missense	probably damaging	1.00
R1689:Fbxw10	UTSW	11	62,750,862 (GRCm39)	missense	probably damaging	1.00
R1785:Fbxw10	UTSW	11	62,750,683 (GRCm39)	missense	probably damaging	0.99
R2130:Fbxw10	UTSW	11	62,750,683 (GRCm39)	missense	probably damaging	0.99
R2132:Fbxw10	UTSW	11	62,750,683 (GRCm39)	missense	probably damaging	0.99
R2211:Fbxw10	UTSW	11	62,758,361 (GRCm39)	missense	probably damaging	0.99
R3078:Fbxw10	UTSW	11	62,758,339 (GRCm39)	splice site	probably benign
R3700:Fbxw10	UTSW	11	62,759,983 (GRCm39)	splice site	probably null
R3932:Fbxw10	UTSW	11	62,759,983 (GRCm39)	splice site	probably benign
R4843:Fbxw10	UTSW	11	62,738,151 (GRCm39)	missense	possibly damaging	0.95
R4869:Fbxw10	UTSW	11	62,753,557 (GRCm39)	missense	probably damaging	0.98
R4879:Fbxw10	UTSW	11	62,738,573 (GRCm39)	missense	probably damaging	0.99
R4980:Fbxw10	UTSW	11	62,738,583 (GRCm39)	missense	possibly damaging	0.94
R5417:Fbxw10	UTSW	11	62,767,990 (GRCm39)	missense	possibly damaging	0.53
R5531:Fbxw10	UTSW	11	62,753,482 (GRCm39)	missense	probably damaging	1.00
R5877:Fbxw10	UTSW	11	62,748,542 (GRCm39)	missense	probably damaging	1.00
R6028:Fbxw10	UTSW	11	62,764,345 (GRCm39)	nonsense	probably null
R6616:Fbxw10	UTSW	11	62,743,850 (GRCm39)	missense	probably benign	0.14
R6870:Fbxw10	UTSW	11	62,746,193 (GRCm39)	missense	probably damaging	0.99
R6967:Fbxw10	UTSW	11	62,738,429 (GRCm39)	missense	possibly damaging	0.73
R7409:Fbxw10	UTSW	11	62,767,606 (GRCm39)	missense	possibly damaging	0.86
R7464:Fbxw10	UTSW	11	62,744,124 (GRCm39)	missense	probably benign	0.01
R7542:Fbxw10	UTSW	11	62,741,422 (GRCm39)	missense	probably benign	0.33
R7568:Fbxw10	UTSW	11	62,765,994 (GRCm39)	missense	probably benign
R7733:Fbxw10	UTSW	11	62,764,223 (GRCm39)	missense	unknown
R7793:Fbxw10	UTSW	11	62,738,213 (GRCm39)	missense	possibly damaging	0.96
R7943:Fbxw10	UTSW	11	62,741,487 (GRCm39)	nonsense	probably null
R8003:Fbxw10	UTSW	11	62,748,587 (GRCm39)	missense	possibly damaging	0.53
R8323:Fbxw10	UTSW	11	62,767,506 (GRCm39)	missense	probably benign	0.33
R8899:Fbxw10	UTSW	11	62,748,567 (GRCm39)	missense	probably damaging	0.98
R8904:Fbxw10	UTSW	11	62,765,831 (GRCm39)	nonsense	probably null
R9035:Fbxw10	UTSW	11	62,758,449 (GRCm39)	missense	possibly damaging	0.53
R9121:Fbxw10	UTSW	11	62,738,153 (GRCm39)	missense	possibly damaging	0.53
R9300:Fbxw10	UTSW	11	62,768,109 (GRCm39)	missense	probably benign	0.18
R9332:Fbxw10	UTSW	11	62,748,585 (GRCm39)	missense	probably benign	0.33
R9334:Fbxw10	UTSW	11	62,765,910 (GRCm39)	missense	possibly damaging	0.73
R9417:Fbxw10	UTSW	11	62,753,522 (GRCm39)	nonsense	probably null
R9476:Fbxw10	UTSW	11	62,743,814 (GRCm39)	missense	probably benign	0.00
R9510:Fbxw10	UTSW	11	62,743,814 (GRCm39)	missense	probably benign	0.00
R9520:Fbxw10	UTSW	11	62,750,842 (GRCm39)	missense	possibly damaging	0.52
R9526:Fbxw10	UTSW	11	62,765,945 (GRCm39)	missense	possibly damaging	0.70
R9547:Fbxw10	UTSW	11	62,767,647 (GRCm39)	missense	possibly damaging	0.86
R9602:Fbxw10	UTSW	11	62,750,782 (GRCm39)	missense	possibly damaging	0.71
Z1186:Fbxw10	UTSW	11	62,767,671 (GRCm39)	missense	probably benign
Z1186:Fbxw10	UTSW	11	62,738,118 (GRCm39)	missense	probably benign
Z1187:Fbxw10	UTSW	11	62,767,671 (GRCm39)	missense	probably benign
Z1187:Fbxw10	UTSW	11	62,738,118 (GRCm39)	missense	probably benign
Z1188:Fbxw10	UTSW	11	62,767,671 (GRCm39)	missense	probably benign
Z1188:Fbxw10	UTSW	11	62,738,118 (GRCm39)	missense	probably benign
Z1189:Fbxw10	UTSW	11	62,767,671 (GRCm39)	missense	probably benign
Z1189:Fbxw10	UTSW	11	62,738,118 (GRCm39)	missense	probably benign
Z1190:Fbxw10	UTSW	11	62,767,671 (GRCm39)	missense	probably benign
Z1190:Fbxw10	UTSW	11	62,738,118 (GRCm39)	missense	probably benign
Z1191:Fbxw10	UTSW	11	62,767,671 (GRCm39)	missense	probably benign
Z1191:Fbxw10	UTSW	11	62,738,118 (GRCm39)	missense	probably benign
Z1192:Fbxw10	UTSW	11	62,767,671 (GRCm39)	missense	probably benign
Z1192:Fbxw10	UTSW	11	62,738,118 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCGTGTTCCAGTTTGAAAATGTCAAGTG -3'
(R):5'- ACCCACATGTTTTGCTCTTTAGATGTCA -3'

Sequencing Primer
(F):5'- TGTCAAGTGGCAGTACAGCTC -3'
(R):5'- CTTCTCTCTCAGAAGTCTAAGGATAG -3'

Posted On

2014-01-05