Mutagenetix > Incidental Mutation

Incidental Mutation 'R6693:Fbxw27'

528176

Institutional Source

Beutler Lab

Gene Symbol

Fbxw27

Ensembl Gene

ENSMUSG00000104614

Gene Name

F-box and WD-40 domain protein 27

Synonyms

1700124P09Rik

MMRRC Submission

044811-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.189) question?

Stock #

R6693 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

109595113-109619738 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 109617112 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 130 (I130V)

Ref Sequence

ENSEMBL: ENSMUSP00000148376 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000197125] [ENSMUST00000212725]

AlphaFold

A0A1D5RLF0

Predicted Effect

probably benign
Transcript: ENSMUST00000197125
AA Change: I130V

PolyPhen 2 Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

unknown
Transcript: ENSMUST00000199430
AA Change: I100V

Predicted Effect

probably benign
Transcript: ENSMUST00000212725
AA Change: I130V

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.3%

Validation Efficiency

100% (37/37)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 137,774,915 (GRCm39)	V1368A	probably benign	Het
Aak1	C	T	6: 86,942,497 (GRCm39)	S680L	unknown	Het
Adam25	A	T	8: 41,207,568 (GRCm39)	N278I	probably damaging	Het
Adamtsl1	C	A	4: 86,261,123 (GRCm39)	H1111Q	probably benign	Het
Adgrg7	T	A	16: 56,590,587 (GRCm39)	N195Y	probably damaging	Het
Arhgap23	A	G	11: 97,357,343 (GRCm39)	N436S	probably damaging	Het
Cfap65	T	C	1: 74,956,445 (GRCm39)	I1045V	probably benign	Het
Chrm3	T	C	13: 9,927,458 (GRCm39)	N526S	probably benign	Het
Cpeb2	A	T	5: 43,443,255 (GRCm39)	D982V	probably damaging	Het
Glb1l	T	C	1: 75,185,745 (GRCm39)	D61G	probably damaging	Het
Herc1	G	A	9: 66,386,258 (GRCm39)	C3737Y	probably damaging	Het
Kcnt2	A	T	1: 140,278,965 (GRCm39)	M39L	probably benign	Het
Kif17	C	A	4: 138,013,791 (GRCm39)	Q236K	probably benign	Het
Klhl25	T	C	7: 75,516,561 (GRCm39)	V184A	possibly damaging	Het
Lmf1	A	T	17: 25,864,252 (GRCm39)	M287L	probably benign	Het
Macf1	T	C	4: 123,367,601 (GRCm39)	T822A	possibly damaging	Het
Mmp13	A	T	9: 7,280,245 (GRCm39)	T392S	probably benign	Het
Myo6	T	A	9: 80,153,013 (GRCm39)	N215K	probably damaging	Het
Nedd1	T	C	10: 92,534,199 (GRCm39)	K317R	possibly damaging	Het
Or8g17	C	T	9: 38,930,097 (GRCm39)	A247T	probably damaging	Het
Or9m1	A	G	2: 87,733,652 (GRCm39)	Y123H	probably damaging	Het
Pax9	T	A	12: 56,756,516 (GRCm39)	S285T	probably benign	Het
Pcdhb15	A	T	18: 37,607,394 (GRCm39)	T209S	probably benign	Het
Pdpk1	A	T	17: 24,330,100 (GRCm39)		probably null	Het
Rbak	T	C	5: 143,159,866 (GRCm39)	K396E	probably damaging	Het
Rps6ka5	A	G	12: 100,540,088 (GRCm39)	V545A	probably benign	Het
Scg2	G	T	1: 79,413,737 (GRCm39)	Q329K	probably benign	Het
Shroom3	G	A	5: 93,088,617 (GRCm39)	A456T	possibly damaging	Het
Slc12a7	G	T	13: 73,945,656 (GRCm39)	A489S	probably benign	Het
Slc16a4	T	C	3: 107,210,380 (GRCm39)	I350T	probably damaging	Het
Slc25a45	T	C	19: 5,930,162 (GRCm39)	V44A	possibly damaging	Het
Sucla2	T	A	14: 73,806,107 (GRCm39)	L102*	probably null	Het
Tgif1	T	A	17: 71,157,885 (GRCm39)		probably benign	Het
Tmem8b	A	G	4: 43,669,837 (GRCm39)	E111G	probably benign	Het
Zfp971	G	T	2: 177,675,224 (GRCm39)	K274N	probably benign	Het

Other mutations in Fbxw27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
Limping_along	UTSW	9	109,601,337 (GRCm39)	missense	probably damaging	1.00
PIT4494001:Fbxw27	UTSW	9	109,601,178 (GRCm39)	missense	probably benign	0.00
R4977:Fbxw27	UTSW	9	109,601,187 (GRCm39)	missense	probably damaging	0.97
R5012:Fbxw27	UTSW	9	109,602,271 (GRCm39)	missense	probably benign	0.00
R5325:Fbxw27	UTSW	9	109,599,161 (GRCm39)	missense	probably damaging	1.00
R6172:Fbxw27	UTSW	9	109,601,337 (GRCm39)	missense	probably damaging	1.00
R6295:Fbxw27	UTSW	9	109,601,154 (GRCm39)	missense	possibly damaging	0.82
R6912:Fbxw27	UTSW	9	109,617,148 (GRCm39)	nonsense	probably null
R7026:Fbxw27	UTSW	9	109,617,146 (GRCm39)	missense	possibly damaging	0.81
R7099:Fbxw27	UTSW	9	109,599,223 (GRCm39)	missense	probably damaging	0.98
R7147:Fbxw27	UTSW	9	109,618,391 (GRCm39)	critical splice donor site	probably null
R7884:Fbxw27	UTSW	9	109,618,468 (GRCm39)	nonsense	probably null
R8241:Fbxw27	UTSW	9	109,602,283 (GRCm39)	missense	possibly damaging	0.63
R9544:Fbxw27	UTSW	9	109,602,322 (GRCm39)	frame shift	probably null
R9588:Fbxw27	UTSW	9	109,602,322 (GRCm39)	frame shift	probably null
R9766:Fbxw27	UTSW	9	109,602,215 (GRCm39)	missense	possibly damaging	0.63
Z1177:Fbxw27	UTSW	9	109,601,246 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCCTGCACAGATGGCTTAG -3'
(R):5'- GGGAAATGAACCATACCTCCTTC -3'

Sequencing Primer
(F):5'- TCTTTGGCCAAAGCACATGG -3'
(R):5'- CCTTCAGGTTGAGTTGTCCC -3'

Posted On

2018-07-24