Mutagenetix > Incidental Mutation

Incidental Mutation 'R7243:Fbh1'

563329

Institutional Source

Beutler Lab

Gene Symbol

Fbh1

Ensembl Gene

ENSMUSG00000058594

Gene Name

F-box DNA helicase 1

Synonyms

Fbx18, Fbxo18

MMRRC Submission

045307-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.335) question?

Stock #

R7243 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

11747384-11782393 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 11756336 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 749 (T749S)

Ref Sequence

ENSEMBL: ENSMUSP00000071495 (fasta)

Gene Model

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

AlphaFold

Q8K2I9

Predicted Effect

probably benign
Transcript: ENSMUST00000071564
AA Change: T749S

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000071495
Gene: ENSMUSG00000058594
AA Change: T749S

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 benign
Transcript: ENSMUST00000131893
AA Change: T164S

PolyPhen 2 Score 0.203 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000116392
Gene: ENSMUSG00000058594
AA Change: T164S

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: 99.0%

Validation Efficiency

99% (73/74)

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
Acap1	G	A	11: 69,781,297 (GRCm39)	H103Y	probably benign	Het
Adamdec1	A	G	14: 68,809,203 (GRCm39)	M253T	probably benign	Het
Alox15	C	A	11: 70,241,540 (GRCm39)	G114C	probably null	Het
Aox3	G	T	1: 58,177,466 (GRCm39)	G227V	unknown	Het
Atp8a2	A	T	14: 59,885,291 (GRCm39)	N1144K	probably benign	Het
Cacna1c	C	T	6: 118,614,690 (GRCm39)		probably null	Het
Cog6	A	T	3: 52,909,736 (GRCm39)	W314R	probably damaging	Het
Col5a2	A	G	1: 45,415,320 (GRCm39)	I1473T	probably benign	Het
Csmd1	T	A	8: 15,965,357 (GRCm39)	D3218V	probably damaging	Het
Cyp3a11	A	G	5: 145,795,613 (GRCm39)	M446T	probably damaging	Het
Dhps	A	G	8: 85,801,567 (GRCm39)	Y340C	probably benign	Het
Dnah7b	A	G	1: 46,122,914 (GRCm39)	N108S	probably benign	Het
Dnajb1	C	T	8: 84,337,393 (GRCm39)	P323L	probably damaging	Het
Dspp	TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG	TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG	5: 104,326,227 (GRCm39)		probably benign	Het
Dync2h1	G	T	9: 7,102,405 (GRCm39)	T2665K	possibly damaging	Het
Etv1	C	T	12: 38,907,045 (GRCm39)	S349L	probably benign	Het
Fam171a1	A	T	2: 3,119,653 (GRCm39)	T21S	probably benign	Het
Fcho2	T	C	13: 98,891,724 (GRCm39)	D346G	possibly damaging	Het
Fcrl5	A	G	3: 87,349,552 (GRCm39)	H109R	probably benign	Het
Fstl1	A	G	16: 37,647,088 (GRCm39)	S153G	probably benign	Het
Fyb1	T	C	15: 6,673,180 (GRCm39)	F605L	probably benign	Het
Gcat	T	A	15: 78,921,063 (GRCm39)	M363K	possibly damaging	Het
Gm10604	T	C	4: 11,980,113 (GRCm39)	T64A	unknown	Het
Grin2d	A	G	7: 45,515,552 (GRCm39)	L147P	probably damaging	Het
Ift88	A	T	14: 57,667,993 (GRCm39)		probably null	Het
Ighg1	A	T	12: 113,294,066 (GRCm39)	C26S		Het
Ing2	A	G	8: 48,127,574 (GRCm39)	S48P	probably damaging	Het
Kat6a	C	T	8: 23,428,791 (GRCm39)	T1382I	probably benign	Het
Kdm1a	A	G	4: 136,279,265 (GRCm39)	V765A	probably damaging	Het
Klk1b26	T	C	7: 43,665,691 (GRCm39)	S168P	not run	Het
Klk1b26	A	G	7: 43,666,337 (GRCm39)	N260S	probably damaging	Het
Lama3	G	A	18: 12,552,902 (GRCm39)	G438D	probably damaging	Het
Larp6	T	A	9: 60,620,569 (GRCm39)	D27E	probably benign	Het
Lrba	T	A	3: 86,658,823 (GRCm39)		probably null	Het
Lrig2	A	T	3: 104,404,883 (GRCm39)		probably null	Het
Megf9	T	C	4: 70,353,708 (GRCm39)	E366G	probably benign	Het
Mob1b	T	A	5: 88,891,304 (GRCm39)	D52E	probably damaging	Het
Ndufb3	A	T	1: 58,630,282 (GRCm39)	H11L	unknown	Het
Odc1	T	G	12: 17,600,058 (GRCm39)	Y407*	probably null	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Opa1	A	G	16: 29,405,814 (GRCm39)	I126M	probably benign	Het
Or2t47	T	C	11: 58,442,227 (GRCm39)	I279M	probably damaging	Het
Or3a1b	T	A	11: 74,012,559 (GRCm39)	V148E	probably damaging	Het
Or51a10	A	G	7: 103,698,962 (GRCm39)	Y200H	probably damaging	Het
Or51f5	A	T	7: 102,430,865 (GRCm39)	T61S	probably benign	Het
Pcca	A	G	14: 123,114,186 (GRCm39)	H633R	probably benign	Het
Pcdhb22	A	G	18: 37,653,685 (GRCm39)	R461G	probably benign	Het
Pcf11	A	T	7: 92,309,268 (GRCm39)	D647E	probably damaging	Het
Plscr1l1	A	G	9: 92,225,726 (GRCm39)	Y16C	probably damaging	Het
Plxnd1	T	A	6: 115,949,468 (GRCm39)	I773F	probably benign	Het
Prl8a1	A	T	13: 27,766,086 (GRCm39)	L3Q	probably damaging	Het
Psg17	C	A	7: 18,552,640 (GRCm39)	G212C	probably damaging	Het
Ptbp2	G	T	3: 119,546,761 (GRCm39)	N40K	possibly damaging	Het
Ptprj	T	C	2: 90,276,765 (GRCm39)	H1102R	probably damaging	Het
Rbfox3	T	C	11: 118,404,100 (GRCm39)	Y33C	probably damaging	Het
Ros1	T	A	10: 51,999,477 (GRCm39)	N1158Y	probably damaging	Het
Rpgrip1l	T	C	8: 91,996,751 (GRCm39)	I710V	probably benign	Het
Scn9a	A	G	2: 66,370,874 (GRCm39)	F569L	probably damaging	Het
Slc12a4	A	T	8: 106,680,552 (GRCm39)	M190K	probably damaging	Het
Slc22a20	G	A	19: 6,021,599 (GRCm39)	R468C	probably damaging	Het
Slc45a2	T	A	15: 11,023,436 (GRCm39)	Y347N	possibly damaging	Het
Slc4a10	A	G	2: 62,134,206 (GRCm39)	Y974C	probably damaging	Het
Snap47	A	G	11: 59,319,548 (GRCm39)	S197P	probably benign	Het
Snph	T	C	2: 151,436,173 (GRCm39)	S252G	probably damaging	Het
Spns2	A	T	11: 72,347,686 (GRCm39)	W335R	probably damaging	Het
Thnsl1	A	G	2: 21,217,658 (GRCm39)	I471V	probably damaging	Het
Tmprss11f	C	A	5: 86,677,975 (GRCm39)	G265C	probably damaging	Het
Tnn	C	T	1: 159,934,687 (GRCm39)	R1242H	probably benign	Het
Tsc2	T	C	17: 24,818,604 (GRCm39)	R1412G	probably benign	Het
Tsc22d2	G	T	3: 58,323,884 (GRCm39)	V259F	unknown	Het
Ttll13	A	C	7: 79,903,911 (GRCm39)	K280Q	probably damaging	Het
Wls	A	T	3: 159,615,402 (GRCm39)	I306F	possibly damaging	Het
Zfp566	A	G	7: 29,777,701 (GRCm39)	V160A	probably benign	Het
Zfyve28	T	C	5: 34,356,219 (GRCm39)	T761A	probably damaging	Het
Zswim8	G	A	14: 20,764,436 (GRCm39)	R602Q	probably 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
R7177:Fbh1	UTSW	2	11,760,522 (GRCm39)	missense	probably damaging	1.00
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'- GACTGTCTCACTAGCACAGAG -3'
(R):5'- TGGATGTCTGCAAGAGAGTCAG -3'

Sequencing Primer
(F):5'- CTGTCACAGTGTGGCTCAG -3'
(R):5'- TCAGGAAGAAGACGTTGGTTG -3'

Posted On

2019-06-26