Mutagenetix > Incidental Mutation

Incidental Mutation 'R7605:Fbxo42'

588228

Institutional Source

Beutler Lab

Gene Symbol

Fbxo42

Ensembl Gene

ENSMUSG00000028920

Gene Name

F-box protein 42

Synonyms

6720460I06Rik

MMRRC Submission

045675-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.891) question?

Stock #

R7605 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

140875224-140931373 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 140927129 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 470 (A470T)

Ref Sequence

ENSEMBL: ENSMUSP00000030757 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030757]

AlphaFold

Q6PDJ6

Predicted Effect

probably benign
Transcript: ENSMUST00000030757
AA Change: A470T

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

SMART Domains

Protein: ENSMUSP00000030757
Gene: ENSMUSG00000028920
AA Change: A470T

Domain	Start	End	E-Value	Type
FBOX	50	90	2.64e-4	SMART
Pfam:Kelch_5	114	159	7.3e-9	PFAM
Pfam:Kelch_4	118	174	6.1e-10	PFAM
Pfam:Kelch_3	130	182	4e-11	PFAM
Pfam:Kelch_5	228	268	8.2e-10	PFAM
Pfam:Kelch_1	231	274	6.3e-8	PFAM
Pfam:Kelch_2	231	277	5.1e-10	PFAM
Pfam:Kelch_3	241	285	2.9e-8	PFAM
low complexity region	363	376	N/A	INTRINSIC
low complexity region	458	471	N/A	INTRINSIC
low complexity region	508	513	N/A	INTRINSIC
low complexity region	567	595	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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 FBXO42, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (SKP1A; 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, Dec 2010]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	G	12: 118,881,899 (GRCm39)	L610P	probably damaging	Het
Acta2	G	A	19: 34,229,931 (GRCm39)	T8I	probably benign	Het
Asphd2	A	G	5: 112,539,807 (GRCm39)	W9R	probably damaging	Het
Blvrb	T	A	7: 27,165,218 (GRCm39)	H179Q	probably damaging	Het
Capn13	A	T	17: 73,652,132 (GRCm39)		probably null	Het
Casp6	A	T	3: 129,705,812 (GRCm39)	M160L	probably benign	Het
Chordc1	A	G	9: 18,215,668 (GRCm39)	E140G	probably benign	Het
Col24a1	A	T	3: 145,244,442 (GRCm39)	Y1572F	possibly damaging	Het
Cul9	A	G	17: 46,852,658 (GRCm39)	S235P	probably damaging	Het
Cyp2u1	A	T	3: 131,091,602 (GRCm39)	M306K	probably damaging	Het
Dhx33	A	G	11: 70,890,299 (GRCm39)	L240P	probably damaging	Het
Dna2	T	A	10: 62,796,054 (GRCm39)	D494E	probably benign	Het
Dnah7c	C	T	1: 46,671,470 (GRCm39)	R1620C	probably damaging	Het
Dpp8	G	A	9: 64,962,240 (GRCm39)	V427M	probably benign	Het
Dpt	G	A	1: 164,624,400 (GRCm39)	G34S	unknown	Het
Emb	T	A	13: 117,401,046 (GRCm39)	N198K	probably damaging	Het
Entpd5	T	G	12: 84,443,482 (GRCm39)	H62P	probably damaging	Het
Ep300	A	C	15: 81,505,353 (GRCm39)	M658L	unknown	Het
Epb41l4a	T	A	18: 33,930,504 (GRCm39)	D651V	probably damaging	Het
Epha7	C	T	4: 28,871,937 (GRCm39)	S422L	probably benign	Het
Ephb2	A	T	4: 136,498,419 (GRCm39)	V220E	probably damaging	Het
Fam187a	T	A	11: 102,776,874 (GRCm39)	L226H	possibly damaging	Het
Fcgrt	C	T	7: 44,744,675 (GRCm39)	W264*	probably null	Het
Flt3	A	C	5: 147,286,386 (GRCm39)	H733Q	probably benign	Het
Gabrr2	A	G	4: 33,082,560 (GRCm39)	D228G	probably damaging	Het
Gars1	T	C	6: 55,054,735 (GRCm39)	S681P	probably damaging	Het
Gata2	T	C	6: 88,177,390 (GRCm39)	V140A	possibly damaging	Het
Gm8232	A	T	14: 44,672,384 (GRCm39)	N100I		Het
Grik4	A	G	9: 42,599,367 (GRCm39)	C37R	probably damaging	Het
Grm8	T	C	6: 27,618,678 (GRCm39)	E388G	probably damaging	Het
Hivep3	CGG	CG	4: 119,955,108 (GRCm39)	1141	probably null	Het
Igsf9b	C	T	9: 27,234,608 (GRCm39)	T491I	probably damaging	Het
Impa1	C	T	3: 10,389,147 (GRCm39)	V105I	probably damaging	Het
Inf2	A	G	12: 112,567,771 (GRCm39)	T134A	probably damaging	Het
Itgb4	T	A	11: 115,897,302 (GRCm39)	V1521E	probably benign	Het
Iws1	T	A	18: 32,222,540 (GRCm39)	D623E	probably benign	Het
Lhfpl5	T	C	17: 28,795,305 (GRCm39)	S111P	possibly damaging	Het
Lyzl1	T	C	18: 4,169,244 (GRCm39)	C83R	probably damaging	Het
Madd	G	A	2: 91,000,055 (GRCm39)	T617M	possibly damaging	Het
Magi2	A	G	5: 20,433,383 (GRCm39)	T163A	probably damaging	Het
Mdn1	C	A	4: 32,694,599 (GRCm39)	H1107Q	probably damaging	Het
Mfsd14b	A	T	13: 65,214,591 (GRCm39)	Y454N	probably benign	Het
Mrgprb3	T	A	7: 48,292,862 (GRCm39)	I230F	probably benign	Het
Mroh2b	C	T	15: 4,974,505 (GRCm39)	L1162F	probably damaging	Het
Or11i1	G	T	3: 106,729,337 (GRCm39)	H179Q	probably damaging	Het
Or2aj5	T	C	16: 19,425,022 (GRCm39)	Y131C	probably damaging	Het
Or51f23b	C	T	7: 102,402,952 (GRCm39)	M61I	probably benign	Het
Or51m1	T	C	7: 103,578,075 (GRCm39)	L15P	probably damaging	Het
Or5ar1	A	G	2: 85,671,383 (GRCm39)	F251L	probably benign	Het
Or9e1	A	G	11: 58,732,326 (GRCm39)	I129V	probably benign	Het
Pclo	T	C	5: 14,729,050 (GRCm39)	L2636P	unknown	Het
Pfkm	G	A	15: 98,019,191 (GRCm39)	A181T	probably damaging	Het
Pik3r1	C	T	13: 101,839,346 (GRCm39)	A169T	probably benign	Het
R3hdml	T	A	2: 163,337,688 (GRCm39)	M114K	probably damaging	Het
Robo1	C	A	16: 72,821,189 (GRCm39)	R1310S	probably benign	Het
Scnm1	A	T	3: 95,040,186 (GRCm39)	N115K	probably benign	Het
Sfn	A	G	4: 133,328,548 (GRCm39)	V178A	probably damaging	Het
Shank2	C	T	7: 143,645,516 (GRCm39)	T366I	possibly damaging	Het
Siah1a	T	C	8: 87,451,953 (GRCm39)	D177G	probably damaging	Het
Slc37a2	A	C	9: 37,148,624 (GRCm39)	I286S	possibly damaging	Het
Smarce1	T	C	11: 99,119,118 (GRCm39)	T12A	probably benign	Het
Spata31d1c	T	A	13: 65,183,654 (GRCm39)	S399T	probably benign	Het
Specc1	A	G	11: 62,102,506 (GRCm39)	S942G	possibly damaging	Het
Syt13	T	C	2: 92,773,478 (GRCm39)	F164S	probably benign	Het
Topbp1	A	T	9: 103,209,905 (GRCm39)	T851S	probably benign	Het
Ttn	A	T	2: 76,800,015 (GRCm39)	S398T	unknown	Het
Vmn1r12	T	C	6: 57,136,521 (GRCm39)	V206A	probably damaging	Het
Vmn1r224	G	A	17: 20,640,221 (GRCm39)	W266*	probably null	Het
Vmn2r68	T	C	7: 84,883,116 (GRCm39)	D212G	probably benign	Het
Vps13b	G	T	15: 35,770,792 (GRCm39)	K2078N	probably damaging	Het
Zfp251	A	C	15: 76,738,557 (GRCm39)	F179V	possibly damaging	Het

Other mutations in Fbxo42

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00769:Fbxo42	APN	4	140,907,760 (GRCm39)	missense	probably damaging	1.00
IGL02331:Fbxo42	APN	4	140,895,157 (GRCm39)	missense	probably benign	0.08
IGL02989:Fbxo42	APN	4	140,926,845 (GRCm39)	missense	probably damaging	1.00
IGL03047:Fbxo42	UTSW	4	140,926,853 (GRCm39)	missense	possibly damaging	0.92
R0158:Fbxo42	UTSW	4	140,927,640 (GRCm39)	missense	probably benign	0.26
R0295:Fbxo42	UTSW	4	140,927,808 (GRCm39)	missense	probably damaging	1.00
R0671:Fbxo42	UTSW	4	140,922,550 (GRCm39)	missense	probably damaging	1.00
R1321:Fbxo42	UTSW	4	140,895,160 (GRCm39)	missense	probably benign	0.01
R1437:Fbxo42	UTSW	4	140,895,165 (GRCm39)	missense	probably benign	0.00
R1459:Fbxo42	UTSW	4	140,895,073 (GRCm39)	missense	probably benign
R1585:Fbxo42	UTSW	4	140,925,417 (GRCm39)	splice site	probably benign
R1635:Fbxo42	UTSW	4	140,927,840 (GRCm39)	missense	probably damaging	1.00
R2849:Fbxo42	UTSW	4	140,927,821 (GRCm39)	missense	probably damaging	1.00
R4288:Fbxo42	UTSW	4	140,895,207 (GRCm39)	missense	probably damaging	1.00
R4431:Fbxo42	UTSW	4	140,927,861 (GRCm39)	missense	probably damaging	0.99
R4556:Fbxo42	UTSW	4	140,926,321 (GRCm39)	missense	probably damaging	1.00
R4701:Fbxo42	UTSW	4	140,927,120 (GRCm39)	missense	probably benign	0.00
R5071:Fbxo42	UTSW	4	140,926,256 (GRCm39)	missense	probably damaging	1.00
R5072:Fbxo42	UTSW	4	140,926,256 (GRCm39)	missense	probably damaging	1.00
R5249:Fbxo42	UTSW	4	140,926,335 (GRCm39)	missense	probably damaging	1.00
R5796:Fbxo42	UTSW	4	140,927,100 (GRCm39)	missense	probably benign	0.00
R6366:Fbxo42	UTSW	4	140,927,260 (GRCm39)	missense	probably benign	0.01
R7197:Fbxo42	UTSW	4	140,927,396 (GRCm39)	missense	probably benign
R7339:Fbxo42	UTSW	4	140,927,455 (GRCm39)	missense	possibly damaging	0.95
R7468:Fbxo42	UTSW	4	140,926,917 (GRCm39)	missense	possibly damaging	0.95
R7619:Fbxo42	UTSW	4	140,927,673 (GRCm39)	missense	possibly damaging	0.69
R7780:Fbxo42	UTSW	4	140,921,131 (GRCm39)	critical splice donor site	probably null
R9577:Fbxo42	UTSW	4	140,907,743 (GRCm39)	nonsense	probably null
R9655:Fbxo42	UTSW	4	140,895,171 (GRCm39)	missense	probably damaging	0.99
X0063:Fbxo42	UTSW	4	140,922,592 (GRCm39)	missense	probably benign	0.00
Z1176:Fbxo42	UTSW	4	140,907,845 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AAGCGCCCTGTGTTAATGG -3'
(R):5'- CACCATTGGTCTGTTCTGGAGG -3'

Sequencing Primer
(F):5'- TTAATGGCCGCTGGGGAAC -3'
(R):5'- AGGGTGTCTCACACTCCC -3'

Posted On

2019-10-24