Mutagenetix > Incidental Mutation

Incidental Mutation 'R7177:Fbh1'

558659

Institutional Source

Beutler Lab

Gene Symbol

Fbh1

Ensembl Gene

ENSMUSG00000058594

Gene Name

F-box DNA helicase 1

Synonyms

Fbx18, Fbxo18

MMRRC Submission

045268-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.447) question?

Stock #

R7177 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

11747384-11782393 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11760522 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 676 (I676T)

Ref Sequence

ENSEMBL: ENSMUSP00000071495 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071564] [ENSMUST00000131893]

AlphaFold

Q8K2I9

Predicted Effect

probably damaging
Transcript: ENSMUST00000071564
AA Change: I676T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000071495
Gene: ENSMUSG00000058594
AA Change: I676T

Domain	Start	End	E-Value	Type
FBOX	213	256	3.94e-3	SMART
Pfam:UvrD-helicase	626	692	8e-10	PFAM
Pfam:UvrD_C	862	935	1.7e-12	PFAM
Pfam:UvrD_C_2	867	931	1.6e-12	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000131893
AA Change: I91T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000116392
Gene: ENSMUSG00000058594
AA Change: I91T

Domain	Start	End	E-Value	Type
SCOP:d1pjr_1	63	141	5e-9	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbx class. It contains an F-box motif and seven conserved helicase motifs, and has both DNA-dependent ATPase and DNA unwinding activities. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	T	C	9: 53,325,685 (GRCm39)	L74S	probably damaging	Het
5730409E04Rik	A	G	4: 126,505,525 (GRCm39)	S18G	probably benign	Het
Adam29	A	G	8: 56,325,659 (GRCm39)	I265T	probably benign	Het
Aff4	C	T	11: 53,297,466 (GRCm39)	S896L	probably benign	Het
Ankrd27	T	C	7: 35,318,822 (GRCm39)	I571T	probably damaging	Het
Bdp1	C	A	13: 100,186,478 (GRCm39)	R1658I	probably damaging	Het
Carm1	C	T	9: 21,458,323 (GRCm39)	T7M	unknown	Het
Ccdc183	A	G	2: 25,506,296 (GRCm39)	V100A	probably damaging	Het
Cd86	CA	CAA	16: 36,426,917 (GRCm39)		probably null	Het
Ceacam2	T	G	7: 25,220,341 (GRCm39)	D239A	probably benign	Het
Cfap96	T	A	8: 46,423,444 (GRCm39)	E89D	possibly damaging	Het
Cimap1c	T	A	9: 56,757,262 (GRCm39)	M139L	possibly damaging	Het
Cmya5	T	C	13: 93,231,836 (GRCm39)	D1084G	probably benign	Het
Cog5	T	A	12: 31,810,888 (GRCm39)	I194K	probably damaging	Het
Col20a1	C	T	2: 180,636,007 (GRCm39)	Q211*	probably null	Het
Col9a1	T	A	1: 24,234,498 (GRCm39)	L13Q	unknown	Het
Cracr2a	A	T	6: 127,585,669 (GRCm39)	M156L	probably benign	Het
Cts8	C	T	13: 61,399,505 (GRCm39)	M151I	possibly damaging	Het
Cyp2ab1	A	T	16: 20,135,469 (GRCm39)	L11Q	probably null	Het
Dhrs13	T	A	11: 77,925,208 (GRCm39)	C160S	probably benign	Het
Enthd1	T	A	15: 80,358,415 (GRCm39)	E368D	probably damaging	Het
Fcgrt	T	C	7: 44,751,421 (GRCm39)	R176G	probably benign	Het
Gatd1	A	G	7: 140,990,947 (GRCm39)	F67L	possibly damaging	Het
Gm4353	G	A	7: 115,683,727 (GRCm39)	P23S	probably damaging	Het
Gm6882	T	A	7: 21,161,677 (GRCm39)	I64F	possibly damaging	Het
Grwd1	A	T	7: 45,480,204 (GRCm39)	M1K	probably null	Het
Hook2	T	A	8: 85,718,046 (GRCm39)	S58T	probably benign	Het
Iqch	T	G	9: 63,329,117 (GRCm39)	*1072C	probably null	Het
Kmt2d	G	A	15: 98,748,267 (GRCm39)	T3019I	unknown	Het
Lmx1a	T	C	1: 167,674,247 (GRCm39)	S356P	probably benign	Het
Lrig3	A	G	10: 125,842,712 (GRCm39)	M546V	probably benign	Het
Lrrc1	C	A	9: 77,379,504 (GRCm39)	E96*	probably null	Het
Lrtm2	C	A	6: 119,294,113 (GRCm39)	M339I	probably damaging	Het
Map10	T	C	8: 126,398,584 (GRCm39)	V659A	probably benign	Het
Map7d1	A	G	4: 126,130,778 (GRCm39)	C384R	probably damaging	Het
Mcur1	T	C	13: 43,698,012 (GRCm39)	D296G	probably damaging	Het
Mettl24	A	T	10: 40,686,508 (GRCm39)	H295L	probably damaging	Het
Mgat4f	T	C	1: 134,318,163 (GRCm39)	S312P	probably benign	Het
Mpl	A	G	4: 118,305,741 (GRCm39)		probably null	Het
Mrps5	T	C	2: 127,437,617 (GRCm39)	V148A	probably benign	Het
N4bp2	T	C	5: 65,964,891 (GRCm39)	V980A	probably damaging	Het
Ncaph	A	T	2: 126,958,506 (GRCm39)	D504E	probably damaging	Het
Nxph1	A	G	6: 9,247,497 (GRCm39)	N156S	probably damaging	Het
Or2t26	T	A	11: 49,040,012 (GRCm39)	C309*	probably null	Het
Or4f14b	T	A	2: 111,775,501 (GRCm39)	Q100L	probably damaging	Het
Pafah1b3	T	A	7: 24,994,657 (GRCm39)	I186L	probably benign	Het
Papola	C	A	12: 105,775,790 (GRCm39)	N235K	possibly damaging	Het
Pcnx3	A	T	19: 5,737,527 (GRCm39)	M98K	probably benign	Het
Pip4p1	A	C	14: 51,167,634 (GRCm39)	M104R	possibly damaging	Het
Pkhd1l1	A	G	15: 44,330,800 (GRCm39)	N125S	probably damaging	Het
Pls1	T	A	9: 95,655,612 (GRCm39)	H380L	probably benign	Het
Plxna1	T	C	6: 89,300,311 (GRCm39)	T1591A	possibly damaging	Het
Pparg	T	G	6: 115,418,581 (GRCm39)	S147A	probably benign	Het
Prdm10	T	C	9: 31,279,003 (GRCm39)	S1025P	probably benign	Het
Prkcd	T	A	14: 30,321,664 (GRCm39)	H510L	probably damaging	Het
Ptprh	T	A	7: 4,572,480 (GRCm39)	E499D	possibly damaging	Het
Rad51ap1	A	G	6: 126,901,983 (GRCm39)	S256P	probably benign	Het
Rad54b	A	G	4: 11,599,755 (GRCm39)	T320A	probably damaging	Het
Rnf207	A	G	4: 152,396,634 (GRCm39)	I459T	probably benign	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Ryr3	A	T	2: 112,731,188 (GRCm39)	D727E	probably damaging	Het
Sdk2	C	T	11: 113,720,795 (GRCm39)	R1378H	possibly damaging	Het
Slc7a11	A	G	3: 50,397,680 (GRCm39)	S11P	probably benign	Het
Sox4	A	G	13: 29,137,000 (GRCm39)	V2A	probably damaging	Het
Srf	A	G	17: 46,866,318 (GRCm39)	F146S	probably damaging	Het
Srrm2	T	C	17: 24,035,747 (GRCm39)	V797A	unknown	Het
Stk32c	T	C	7: 138,684,218 (GRCm39)	D463G	possibly damaging	Het
Syne2	C	A	12: 76,018,654 (GRCm39)	Y3384*	probably null	Het
Tektl1	T	C	10: 78,588,324 (GRCm39)	D162G	probably damaging	Het
Traip	T	A	9: 107,838,184 (GRCm39)	M139K	possibly damaging	Het
Trappc2l	T	A	8: 123,341,051 (GRCm39)	F100Y	probably damaging	Het
Ush1c	T	C	7: 45,878,643 (GRCm39)	D124G	probably damaging	Het
Uty	A	G	Y: 1,099,691 (GRCm39)	V1168A	probably benign	Het
Vmn2r25	T	C	6: 123,816,882 (GRCm39)	D233G	possibly damaging	Het
Zdbf2	C	T	1: 63,334,120 (GRCm39)	R31C	possibly damaging	Het

Other mutations in Fbh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01615:Fbh1	APN	2	11,762,334 (GRCm39)	nonsense	probably null
IGL02081:Fbh1	APN	2	11,768,938 (GRCm39)	missense	probably benign	0.31
IGL02082:Fbh1	APN	2	11,768,938 (GRCm39)	missense	probably benign	0.31
IGL02084:Fbh1	APN	2	11,768,938 (GRCm39)	missense	probably benign	0.31
IGL02086:Fbh1	APN	2	11,768,938 (GRCm39)	missense	probably benign	0.31
IGL02369:Fbh1	APN	2	11,751,969 (GRCm39)	missense	possibly damaging	0.61
IGL02584:Fbh1	APN	2	11,764,769 (GRCm39)	missense	probably benign	0.07
IGL03138:Fbh1	UTSW	2	11,754,320 (GRCm39)	intron	probably benign
R0384:Fbh1	UTSW	2	11,754,389 (GRCm39)	missense	probably damaging	1.00
R0479:Fbh1	UTSW	2	11,763,230 (GRCm39)	missense	probably damaging	1.00
R0972:Fbh1	UTSW	2	11,768,899 (GRCm39)	splice site	probably benign
R1420:Fbh1	UTSW	2	11,772,493 (GRCm39)	missense	probably benign	0.01
R1827:Fbh1	UTSW	2	11,768,699 (GRCm39)	missense	possibly damaging	0.88
R1832:Fbh1	UTSW	2	11,772,211 (GRCm39)	missense	probably benign	0.08
R1960:Fbh1	UTSW	2	11,762,339 (GRCm39)	missense	probably damaging	0.98
R2040:Fbh1	UTSW	2	11,774,706 (GRCm39)	missense	possibly damaging	0.66
R2044:Fbh1	UTSW	2	11,767,781 (GRCm39)	missense	possibly damaging	0.89
R2102:Fbh1	UTSW	2	11,763,100 (GRCm39)	missense	probably benign	0.18
R3236:Fbh1	UTSW	2	11,774,637 (GRCm39)	missense	probably damaging	1.00
R3975:Fbh1	UTSW	2	11,772,021 (GRCm39)	missense	possibly damaging	0.72
R4504:Fbh1	UTSW	2	11,753,828 (GRCm39)	missense	possibly damaging	0.91
R4505:Fbh1	UTSW	2	11,753,828 (GRCm39)	missense	possibly damaging	0.91
R4507:Fbh1	UTSW	2	11,753,828 (GRCm39)	missense	possibly damaging	0.91
R4799:Fbh1	UTSW	2	11,760,558 (GRCm39)	missense	probably damaging	1.00
R4894:Fbh1	UTSW	2	11,767,771 (GRCm39)	missense	probably damaging	1.00
R4994:Fbh1	UTSW	2	11,769,041 (GRCm39)	missense	probably damaging	1.00
R5579:Fbh1	UTSW	2	11,753,804 (GRCm39)	missense	probably damaging	0.97
R5801:Fbh1	UTSW	2	11,774,637 (GRCm39)	missense	probably damaging	1.00
R6255:Fbh1	UTSW	2	11,753,257 (GRCm39)	missense	probably benign	0.31
R7011:Fbh1	UTSW	2	11,767,774 (GRCm39)	missense	probably damaging	1.00
R7243:Fbh1	UTSW	2	11,756,336 (GRCm39)	missense	probably benign	0.11
R7331:Fbh1	UTSW	2	11,768,797 (GRCm39)	missense	probably benign
R7361:Fbh1	UTSW	2	11,751,887 (GRCm39)	missense	probably damaging	1.00
R7460:Fbh1	UTSW	2	11,761,496 (GRCm39)	missense	probably benign	0.38
R7541:Fbh1	UTSW	2	11,754,348 (GRCm39)	missense	probably benign	0.05
R8000:Fbh1	UTSW	2	11,772,100 (GRCm39)	missense	probably benign	0.21
R8010:Fbh1	UTSW	2	11,772,443 (GRCm39)	missense	probably benign	0.15
R8056:Fbh1	UTSW	2	11,748,441 (GRCm39)	missense	probably benign	0.01
R8517:Fbh1	UTSW	2	11,782,241 (GRCm39)	critical splice donor site	probably null
R8686:Fbh1	UTSW	2	11,760,469 (GRCm39)	missense	probably benign	0.00
R8883:Fbh1	UTSW	2	11,753,922 (GRCm39)	missense	probably benign	0.21
R9093:Fbh1	UTSW	2	11,764,801 (GRCm39)	missense	probably damaging	1.00
R9306:Fbh1	UTSW	2	11,772,387 (GRCm39)	missense	probably benign	0.00
R9342:Fbh1	UTSW	2	11,754,414 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGACCATCTGTGACTAAGCTG -3'
(R):5'- AAAGCCTGCCCTGTGGAAAAG -3'

Sequencing Primer
(F):5'- ACCATCTGTGACTAAGCTGTTGTTTG -3'
(R):5'- CCTGCCCTGTGGAAAAGAAATTATTG -3'

Posted On

2019-06-26