Mutagenetix > Incidental Mutation

Incidental Mutation 'R6189:Fbxo40'

502415

Institutional Source

Beutler Lab

Gene Symbol

Fbxo40

Ensembl Gene

ENSMUSG00000047746

Gene Name

F-box protein 40

Synonyms

9830003A13Rik

MMRRC Submission

044329-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.151) question?

Stock #

R6189 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36783822-36810829 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36786526 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 681 (I681T)

Ref Sequence

ENSEMBL: ENSMUSP00000110454 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023531] [ENSMUST00000075869] [ENSMUST00000114806] [ENSMUST00000164050]

AlphaFold

P62932

Predicted Effect

probably benign
Transcript: ENSMUST00000023531

SMART Domains

Protein: ENSMUSP00000023531
Gene: ENSMUSG00000022831

Domain	Start	End	E-Value	Type
Pfam:HS1_rep	82	117	6.6e-23	PFAM
Pfam:HS1_rep	119	154	1.2e-23	PFAM
Pfam:HS1_rep	156	191	3.3e-21	PFAM
Pfam:HS1_rep	193	220	2.1e-14	PFAM
coiled coil region	238	273	N/A	INTRINSIC
low complexity region	358	390	N/A	INTRINSIC
SH3	432	486	1.2e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000075869
AA Change: I681T

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000075266
Gene: ENSMUSG00000047746
AA Change: I681T

Domain	Start	End	E-Value	Type
Pfam:zf-TRAF_2	12	104	6.1e-42	PFAM
Pfam:F-box_4	571	686	1.2e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114806
AA Change: I681T

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000110454
Gene: ENSMUSG00000047746
AA Change: I681T

Domain	Start	End	E-Value	Type
PDB:2YRE\|A	12	92	1e-27	PDB
SCOP:d1k2fa_	62	97	5e-4	SMART
Blast:FBOX	578	616	1e-8	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127808

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132511

Predicted Effect

probably benign
Transcript: ENSMUST00000164050

SMART Domains

Protein: ENSMUSP00000127186
Gene: ENSMUSG00000022831

Domain	Start	End	E-Value	Type
Pfam:HS1_rep	82	118	6e-24	PFAM
Pfam:HS1_rep	119	136	1.1e-9	PFAM

Meta Mutation Damage Score

0.2657

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

97% (74/76)

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 FBXO40, 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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	A	G	17: 48,474,222 (GRCm39)		probably benign	Het
Abca8a	T	C	11: 109,921,710 (GRCm39)	D1448G	probably damaging	Het
Actn2	C	T	13: 12,291,326 (GRCm39)	D693N	probably damaging	Het
Adam3	A	C	8: 25,201,352 (GRCm39)	I267R	probably benign	Het
Aldh1l2	A	G	10: 83,343,877 (GRCm39)		probably null	Het
C4bp	T	C	1: 130,564,556 (GRCm39)	Y376C	probably damaging	Het
Cacna1h	A	G	17: 25,616,818 (GRCm39)	W101R	probably damaging	Het
Ccdc97	T	A	7: 25,415,523 (GRCm39)	T47S	probably benign	Het
Cenatac	G	A	9: 44,321,618 (GRCm39)	R328C	probably benign	Het
Cnot6l	G	A	5: 96,246,136 (GRCm39)	T171I	probably benign	Het
Cntnap2	T	A	6: 47,248,232 (GRCm39)	S1213T	probably damaging	Het
Cxcl10	A	T	5: 92,495,972 (GRCm39)	L55Q	probably benign	Het
Cyp1a1	T	C	9: 57,607,966 (GRCm39)	V198A	probably damaging	Het
Dclre1b	A	G	3: 103,710,849 (GRCm39)	V354A	probably damaging	Het
Dmxl1	C	T	18: 50,026,402 (GRCm39)	H1837Y	probably benign	Het
Dnajc13	G	C	9: 104,091,085 (GRCm39)	D665E	probably benign	Het
Dnmbp	T	C	19: 43,878,748 (GRCm39)	T108A	probably benign	Het
Dnmbp	T	A	19: 43,889,950 (GRCm39)	T606S	probably benign	Het
Dok5	T	A	2: 170,642,771 (GRCm39)	I23N	probably damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Epha5	A	T	5: 84,385,399 (GRCm39)	F311I	probably damaging	Het
Erbb4	T	A	1: 68,083,075 (GRCm39)	M1059L	probably benign	Het
Flg2	T	A	3: 93,127,381 (GRCm39)	C2098S	unknown	Het
Gpr87	T	A	3: 59,086,650 (GRCm39)	D285V	probably damaging	Het
Hrh1	T	A	6: 114,456,959 (GRCm39)	V80D	probably damaging	Het
Hunk	G	A	16: 90,284,769 (GRCm39)	R351K	probably benign	Het
Ifna12	A	G	4: 88,521,248 (GRCm39)	W100R	probably damaging	Het
Ift57	G	A	16: 49,584,176 (GRCm39)	G310S	probably damaging	Het
Igf1r	T	A	7: 67,857,084 (GRCm39)	Y1015*	probably null	Het
Igkv14-130	T	C	6: 67,768,432 (GRCm39)	I96T	probably damaging	Het
Il34	C	T	8: 111,469,350 (GRCm39)	S155N	probably benign	Het
Itga7	T	C	10: 128,786,272 (GRCm39)	S938P	possibly damaging	Het
Itgam	A	G	7: 127,711,676 (GRCm39)	M764V	probably benign	Het
Lao1	T	A	4: 118,825,077 (GRCm39)	M299K	probably benign	Het
Lnpep	A	T	17: 17,787,001 (GRCm39)	S533T	possibly damaging	Het
Lrp4	T	C	2: 91,305,579 (GRCm39)	V283A	possibly damaging	Het
Magi3	G	T	3: 103,958,181 (GRCm39)	H635N	probably damaging	Het
Mecr	A	T	4: 131,592,565 (GRCm39)		probably null	Het
Mgrn1	T	C	16: 4,728,674 (GRCm39)		probably null	Het
Mical2	A	C	7: 112,012,087 (GRCm39)	N646H	probably damaging	Het
Mymk	C	T	2: 26,957,377 (GRCm39)	V39I	possibly damaging	Het
Nav3	T	C	10: 109,555,880 (GRCm39)	S1684G	probably damaging	Het
Ntn5	A	T	7: 45,342,644 (GRCm39)	D330V	probably benign	Het
Nup42	G	T	5: 24,380,452 (GRCm39)	G149V	probably damaging	Het
Nutm2	T	A	13: 50,623,774 (GRCm39)	V157D	possibly damaging	Het
Obscn	T	C	11: 58,960,760 (GRCm39)	I3460V	probably benign	Het
Or8u10	A	T	2: 85,915,257 (GRCm39)	M288K	possibly damaging	Het
Pakap	A	G	4: 57,855,928 (GRCm39)	E419G	probably benign	Het
Pcdh15	C	T	10: 74,178,483 (GRCm39)	A580V	probably null	Het
Pcdhb10	T	A	18: 37,545,456 (GRCm39)	H177Q	probably damaging	Het
Pitx2	T	C	3: 129,012,118 (GRCm39)	Y130H	probably damaging	Het
Pmch	G	T	10: 87,927,248 (GRCm39)		probably null	Het
Pofut2	T	A	10: 77,104,420 (GRCm39)	I399N	probably damaging	Het
Prr36	C	A	8: 4,264,177 (GRCm39)		probably benign	Het
Ptprq	C	A	10: 107,353,748 (GRCm39)	C2256F	probably damaging	Het
Rassf5	G	A	1: 131,172,716 (GRCm39)	A51V	probably damaging	Het
Retnla	A	G	16: 48,663,258 (GRCm39)	I54V	probably benign	Het
Rimbp2	A	G	5: 128,880,961 (GRCm39)	L142P	probably benign	Het
Ripk1	A	G	13: 34,216,484 (GRCm39)	T564A	probably benign	Het
Robo4	G	A	9: 37,314,829 (GRCm39)	E228K	probably benign	Het
Rsf1	GGCG	GGCGACGGCTGCG	7: 97,229,113 (GRCm39)		probably benign	Homo
Rusc1	A	T	3: 88,996,319 (GRCm39)	L132Q	probably damaging	Het
Serpinb9h	A	T	13: 33,588,427 (GRCm39)	E337D	probably benign	Het
Setd1a	T	C	7: 127,377,455 (GRCm39)		probably null	Het
Slc38a6	A	T	12: 73,356,970 (GRCm39)	K122M	probably damaging	Het
Speer4a2	A	G	5: 26,290,691 (GRCm39)	I160T	probably benign	Het
Susd5	A	T	9: 113,924,726 (GRCm39)	D203V	probably damaging	Het
Trip4	G	A	9: 65,786,434 (GRCm39)	R110*	probably null	Het
Tuba4a	T	A	1: 75,193,518 (GRCm39)	I95F	probably benign	Het
Ube2q2	T	A	9: 55,070,267 (GRCm39)	S70T	probably benign	Het
Umodl1	A	G	17: 31,215,256 (GRCm39)	I1027V	possibly damaging	Het
Unc80	G	A	1: 66,716,630 (GRCm39)	V2917I	probably benign	Het
Vmn1r70	T	A	7: 10,367,598 (GRCm39)	C29S	probably benign	Het
Vmn2r94	A	T	17: 18,477,996 (GRCm39)	D138E	probably benign	Het
Wee2	C	T	6: 40,426,617 (GRCm39)	H129Y	probably damaging	Het
Zfp318	TGAAGAAGAAGAAGAAGAAGAAGAAGAAG	TGAAGAAGAAGAAGAAGAAGAAG	17: 46,723,440 (GRCm39)		probably benign	Het
Zfp872	A	T	9: 22,108,427 (GRCm39)	D42V	probably benign	Het
Zic5	T	G	14: 122,702,386 (GRCm39)	D115A	unknown	Het

Other mutations in Fbxo40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01339:Fbxo40	APN	16	36,790,816 (GRCm39)	missense	probably damaging	1.00
IGL02238:Fbxo40	APN	16	36,789,536 (GRCm39)	missense	possibly damaging	0.63
IGL02389:Fbxo40	APN	16	36,790,136 (GRCm39)	missense	probably benign	0.26
IGL02619:Fbxo40	APN	16	36,790,766 (GRCm39)	missense	possibly damaging	0.92
IGL02620:Fbxo40	APN	16	36,786,442 (GRCm39)	missense	probably benign	0.14
leuk	UTSW	16	36,789,236 (GRCm39)	missense	probably damaging	1.00
R0532:Fbxo40	UTSW	16	36,789,984 (GRCm39)	missense	possibly damaging	0.92
R1016:Fbxo40	UTSW	16	36,789,539 (GRCm39)	nonsense	probably null
R1783:Fbxo40	UTSW	16	36,786,584 (GRCm39)	missense	probably damaging	0.99
R1832:Fbxo40	UTSW	16	36,789,218 (GRCm39)	nonsense	probably null
R1938:Fbxo40	UTSW	16	36,789,713 (GRCm39)	missense	probably damaging	0.98
R1974:Fbxo40	UTSW	16	36,790,303 (GRCm39)	missense	probably benign
R1995:Fbxo40	UTSW	16	36,790,231 (GRCm39)	missense	probably damaging	1.00
R3856:Fbxo40	UTSW	16	36,789,445 (GRCm39)	missense	probably damaging	1.00
R4346:Fbxo40	UTSW	16	36,790,525 (GRCm39)	missense	probably benign	0.01
R4907:Fbxo40	UTSW	16	36,790,064 (GRCm39)	missense	probably benign	0.01
R5059:Fbxo40	UTSW	16	36,790,658 (GRCm39)	missense	possibly damaging	0.48
R5114:Fbxo40	UTSW	16	36,789,236 (GRCm39)	missense	probably damaging	1.00
R5361:Fbxo40	UTSW	16	36,789,914 (GRCm39)	missense	possibly damaging	0.62
R5721:Fbxo40	UTSW	16	36,789,296 (GRCm39)	missense	probably benign	0.06
R5724:Fbxo40	UTSW	16	36,790,692 (GRCm39)	missense	probably benign	0.18
R5808:Fbxo40	UTSW	16	36,790,744 (GRCm39)	missense	probably damaging	1.00
R6461:Fbxo40	UTSW	16	36,790,390 (GRCm39)	missense	probably benign	0.00
R6571:Fbxo40	UTSW	16	36,789,668 (GRCm39)	missense	probably damaging	1.00
R6598:Fbxo40	UTSW	16	36,789,376 (GRCm39)	missense	probably damaging	1.00
R6639:Fbxo40	UTSW	16	36,790,937 (GRCm39)	missense	probably damaging	1.00
R7017:Fbxo40	UTSW	16	36,790,732 (GRCm39)	missense	probably damaging	1.00
R7827:Fbxo40	UTSW	16	36,789,861 (GRCm39)	missense	probably damaging	1.00
R7889:Fbxo40	UTSW	16	36,790,012 (GRCm39)	missense	probably damaging	1.00
R8047:Fbxo40	UTSW	16	36,790,231 (GRCm39)	missense	probably damaging	1.00
R8293:Fbxo40	UTSW	16	36,790,387 (GRCm39)	missense	probably benign
R8297:Fbxo40	UTSW	16	36,789,670 (GRCm39)	missense	probably damaging	0.98
R8397:Fbxo40	UTSW	16	36,790,985 (GRCm39)	missense	probably damaging	1.00
R8423:Fbxo40	UTSW	16	36,790,947 (GRCm39)	missense	probably damaging	1.00
R8515:Fbxo40	UTSW	16	36,791,015 (GRCm39)	missense	probably damaging	1.00
R9064:Fbxo40	UTSW	16	36,791,002 (GRCm39)	missense	probably damaging	0.99
R9088:Fbxo40	UTSW	16	36,790,150 (GRCm39)	missense
R9119:Fbxo40	UTSW	16	36,786,457 (GRCm39)	missense	probably damaging	0.99
R9278:Fbxo40	UTSW	16	36,789,940 (GRCm39)	missense	possibly damaging	0.94
R9339:Fbxo40	UTSW	16	36,789,286 (GRCm39)	missense	probably damaging	1.00
X0022:Fbxo40	UTSW	16	36,789,663 (GRCm39)	missense	probably benign	0.37
Z1176:Fbxo40	UTSW	16	36,789,961 (GRCm39)	missense	probably damaging	1.00
Z1177:Fbxo40	UTSW	16	36,790,624 (GRCm39)	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- GGTTTCAGAGTGGTTCCTCAAAG -3'
(R):5'- TCGCTGGACACTTGGGAAAC -3'

Sequencing Primer
(F):5'- AAGCACACTGTCCTACTTTGAG -3'
(R):5'- TACAGGAGGACAGACTCATCTTGTAC -3'

Posted On

2018-02-27