Mutagenetix > Incidental Mutation

Incidental Mutation 'R2153:Fbxw18'

234529

Institutional Source

Beutler Lab

Gene Symbol

Fbxw18

Ensembl Gene

ENSMUSG00000074059

Gene Name

F-box and WD-40 domain protein 18

Synonyms

MMRRC Submission

040156-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R2153 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

109676734-109702700 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 109693370 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 144 (T144P)

Ref Sequence

ENSEMBL: ENSMUSP00000095962 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098359]

AlphaFold

Q3TSA9

Predicted Effect

probably damaging
Transcript: ENSMUST00000098359
AA Change: T144P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000095962
Gene: ENSMUSG00000074059
AA Change: T144P

Domain	Start	End	E-Value	Type
FBOX	8	48	4.13e-6	SMART
Blast:WD40	140	179	2e-7	BLAST

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	G	8: 72,455,115	E363G	probably benign	Het
9930021J03Rik	T	C	19: 29,716,829	M1755V	probably benign	Het
Abcg2	T	A	6: 58,684,322		probably null	Het
Adgrg7	T	G	16: 56,752,428	I342L	possibly damaging	Het
Akap6	A	C	12: 53,141,404	D1867A	probably benign	Het
Ankrd17	A	T	5: 90,234,059	V2416D	probably damaging	Het
Apaf1	A	G	10: 91,048,090	V670A	probably damaging	Het
Art5	A	G	7: 102,098,200	L124P	possibly damaging	Het
Atad5	T	A	11: 80,106,377	D842E	probably benign	Het
Capns1	A	G	7: 30,192,340	L124P	probably damaging	Het
Carmil1	A	G	13: 24,141,673	S225P	probably damaging	Het
Cars2	C	T	8: 11,530,299	A247T	possibly damaging	Het
Cd46	A	G	1: 195,062,413	I339T	probably benign	Het
Ceacam14	C	A	7: 17,814,228	T81N	probably benign	Het
Ceacam16	G	A	7: 19,861,141	P4L	probably benign	Het
Chek1	C	A	9: 36,723,983	V35F	probably damaging	Het
Cntnap5c	A	T	17: 58,055,671	I340L	possibly damaging	Het
Col2a1	C	A	15: 97,987,580	A461S	unknown	Het
Comtd1	T	C	14: 21,848,272	E27G	possibly damaging	Het
Cyp2a12	A	G	7: 27,032,617	N261S	probably benign	Het
Dclk1	A	G	3: 55,247,212	Y21C	probably damaging	Het
Dis3l	T	A	9: 64,307,263	N981I	probably benign	Het
Dlg5	A	T	14: 24,137,157	I1819N	probably damaging	Het
Enpep	T	C	3: 129,280,582	N772S	probably damaging	Het
Erich1	T	C	8: 14,078,773	T56A	probably benign	Het
Ermp1	T	C	19: 29,637,398		probably null	Het
Etl4	A	G	2: 20,798,734	E807G	probably benign	Het
Fat4	A	T	3: 38,983,395	Y3732F	probably damaging	Het
Flywch1	A	T	17: 23,755,650	I672K	probably benign	Het
Foxk2	C	A	11: 121,260,387	A86E	probably benign	Het
Garem2	T	C	5: 30,108,299	S54P	probably damaging	Het
Gda	A	G	19: 21,397,505		probably null	Het
Gna15	T	C	10: 81,502,904	Y367C	probably damaging	Het
Golga3	A	G	5: 110,187,990		probably null	Het
Greb1	T	C	12: 16,699,532	S1098G	probably damaging	Het
Hook3	C	A	8: 26,070,197	L333F	probably damaging	Het
Ikbkap	T	A	4: 56,779,636		probably null	Het
Il6	C	T	5: 30,013,504	Q33*	probably null	Het
Iqgap1	T	C	7: 80,751,953	E468G	probably benign	Het
Iqgap1	A	G	7: 80,759,903	I228T	possibly damaging	Het
Kat6b	A	T	14: 21,668,667	H1138L	probably benign	Het
Kcnab1	A	T	3: 65,371,440	I371F	probably damaging	Het
Kcnj10	A	T	1: 172,369,888	Y323F	possibly damaging	Het
Klk1b5	T	C	7: 44,219,898		probably null	Het
Lmo7	A	G	14: 101,920,515		probably benign	Het
Loxhd1	A	T	18: 77,356,166	T277S	possibly damaging	Het
Lrp5	A	T	19: 3,614,339	M796K	probably benign	Het
Med15	A	T	16: 17,685,451		probably null	Het
Mfn1	T	A	3: 32,542,826	H144Q	probably damaging	Het
Mmp25	T	A	17: 23,631,074	Y504F	probably damaging	Het
Nmi	T	C	2: 51,952,543	E179G	probably damaging	Het
Nrxn2	T	C	19: 6,504,914	I1141T	probably damaging	Het
Olah	T	C	2: 3,365,269	S9G	probably benign	Het
Olfr1054	A	C	2: 86,332,528	F276C	probably damaging	Het
Olfr1204	C	A	2: 88,852,784	P278H	probably damaging	Het
Olfr1477	T	G	19: 13,502,488	I48M	probably damaging	Het
Olfr24	T	C	9: 18,755,095	D180G	probably damaging	Het
Olfr913	G	T	9: 38,594,411	L63F	probably damaging	Het
Otog	T	A	7: 46,302,904	C2591S	probably damaging	Het
Pdgfrb	G	T	18: 61,072,756	V605F	probably damaging	Het
Pik3cb	T	A	9: 99,101,244	K104*	probably null	Het
Plb1	T	A	5: 32,314,089	I580N	probably damaging	Het
Plekha2	T	C	8: 25,088,397	Y29C	probably damaging	Het
Plekha7	T	A	7: 116,175,767	Y213F	probably damaging	Het
Plin5	T	C	17: 56,116,836	D33G	probably benign	Het
Pnpla2	C	A	7: 141,459,219	Q371K	probably damaging	Het
Ppm1n	A	G	7: 19,278,185	Y348H	probably damaging	Het
Ppp2r1b	T	A	9: 50,866,554	D266E	probably damaging	Het
Prss23	A	G	7: 89,509,911	S317P	probably damaging	Het
Prss33	C	T	17: 23,834,843	V87M	probably damaging	Het
Ptpn12	C	A	5: 21,002,468	Q297H	probably damaging	Het
Pum1	G	T	4: 130,751,491	A571S	probably damaging	Het
Rexo1	G	T	10: 80,544,109	C13*	probably null	Het
Rhpn1	A	T	15: 75,704,394	M1L	probably null	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Ripk2	A	G	4: 16,132,775		probably null	Het
Rps6kc1	T	C	1: 190,798,723	Y937C	probably damaging	Het
Rrbp1	A	G	2: 143,954,198	L1200P	possibly damaging	Het
Ryr2	A	G	13: 11,577,873	I4665T	possibly damaging	Het
Sbno1	C	A	5: 124,378,543	V1256F	probably benign	Het
Senp5	T	C	16: 31,968,874	I644V	probably damaging	Het
Serpinb9e	T	A	13: 33,252,978	F94I	probably damaging	Het
Sidt2	T	C	9: 45,945,340	D477G	probably damaging	Het
Slc30a5	A	T	13: 100,803,949	H619Q	probably damaging	Het
Slmap	A	G	14: 26,418,247	Y771H	probably damaging	Het
Sned1	T	A	1: 93,274,657	D674E	probably benign	Het
Sorl1	T	C	9: 41,984,492	H1789R	probably benign	Het
Sp2	T	C	11: 96,962,008	D30G	possibly damaging	Het
Stk33	T	A	7: 109,341,320	N61I	probably benign	Het
Stxbp1	T	A	2: 32,802,856	I383F	probably damaging	Het
Tbcd	A	G	11: 121,603,631	Q1006R	possibly damaging	Het
Tln2	T	C	9: 67,302,560	T432A	probably damaging	Het
Tnfrsf21	A	G	17: 43,087,872	D623G	probably damaging	Het
Trib2	A	G	12: 15,793,829	F271L	probably damaging	Het
Ttn	A	G	2: 76,980,133	V17A	probably benign	Het
Ubqlnl	A	T	7: 104,148,683	C536S	probably benign	Het
Vmn1r230	T	A	17: 20,846,801	M84K	probably damaging	Het
Vmn2r97	A	T	17: 18,947,322	R613*	probably null	Het
Yeats2	T	A	16: 20,154,166	D23E	probably damaging	Het
Zan	T	A	5: 137,436,400	I2214F	unknown	Het
Zbtb40	T	C	4: 136,991,635	D917G	probably damaging	Het
Zcchc2	C	A	1: 106,021,723		probably null	Het
Zdhhc23	G	T	16: 43,973,919	Q131K	probably benign	Het
Zfp345	T	C	2: 150,472,658	T320A	probably benign	Het
Zfp532	A	G	18: 65,624,927	T644A	possibly damaging	Het

Other mutations in Fbxw18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00226:Fbxw18	APN	9	109693343	missense	probably benign	0.00
IGL00820:Fbxw18	APN	9	109693369	missense	probably damaging	1.00
IGL01447:Fbxw18	APN	9	109701607	missense	probably damaging	1.00
IGL01511:Fbxw18	APN	9	109688821	missense	possibly damaging	0.83
IGL01956:Fbxw18	APN	9	109693357	missense	probably damaging	0.98
IGL02089:Fbxw18	APN	9	109701322	missense	probably benign	0.00
PIT4810001:Fbxw18	UTSW	9	109676890	nonsense	probably null
R0004:Fbxw18	UTSW	9	109701313	missense	probably damaging	0.96
R0124:Fbxw18	UTSW	9	109691515	missense	probably benign	0.00
R0375:Fbxw18	UTSW	9	109688839	missense	possibly damaging	0.63
R1652:Fbxw18	UTSW	9	109690627	missense	probably benign	0.35
R2294:Fbxw18	UTSW	9	109676797	missense	probably damaging	1.00
R3738:Fbxw18	UTSW	9	109688913	missense	possibly damaging	0.57
R4706:Fbxw18	UTSW	9	109690517	missense	probably benign	0.00
R4982:Fbxw18	UTSW	9	109702651	start gained	probably benign
R4990:Fbxw18	UTSW	9	109688393	missense	probably damaging	0.99
R5314:Fbxw18	UTSW	9	109693178	missense	possibly damaging	0.90
R5520:Fbxw18	UTSW	9	109691521	missense	probably benign	0.00
R5634:Fbxw18	UTSW	9	109676803	missense	possibly damaging	0.49
R5718:Fbxw18	UTSW	9	109691568	missense	probably benign	0.01
R5894:Fbxw18	UTSW	9	109700167	missense	possibly damaging	0.83
R5928:Fbxw18	UTSW	9	109700081	missense	probably damaging	0.99
R6175:Fbxw18	UTSW	9	109676879	missense	probably damaging	1.00
R6696:Fbxw18	UTSW	9	109688764	missense	probably benign	0.09
R6944:Fbxw18	UTSW	9	109702587	missense	probably damaging	1.00
R7396:Fbxw18	UTSW	9	109688886	missense	probably benign	0.19
R7737:Fbxw18	UTSW	9	109701263	nonsense	probably null
R7883:Fbxw18	UTSW	9	109688406	missense	probably damaging	1.00
R9002:Fbxw18	UTSW	9	109690592	missense	probably damaging	1.00
R9053:Fbxw18	UTSW	9	109688423	missense	probably benign	0.02
R9782:Fbxw18	UTSW	9	109693308	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- AAGACAATAGCAGCATCCTTGG -3'
(R):5'- CCTGCCCCAAATACTCTAGATG -3'

Sequencing Primer
(F):5'- TAGCAGCATCCTTGGTAAAGAC -3'
(R):5'- AGTTACCGACACTTGTGAGC -3'

Posted On

2014-10-01