Mutagenetix > Incidental Mutation

Incidental Mutation 'R6295:Fbxw27'

508711

Institutional Source

Beutler Lab

Gene Symbol

Fbxw27

Ensembl Gene

ENSMUSG00000104614

Gene Name

F-box and WD-40 domain protein 27

Synonyms

1700124P09Rik

MMRRC Submission

044463-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.149) question?

Stock #

R6295 (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 109601154 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 17 (E17G)

Ref Sequence

ENSEMBL: ENSMUSP00000148740 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000197125] [ENSMUST00000211814] [ENSMUST00000212725]

AlphaFold

A0A1D5RLF0

Predicted Effect

probably benign
Transcript: ENSMUST00000197125

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198666

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199197

Predicted Effect

probably benign
Transcript: ENSMUST00000199430

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200610

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211814
AA Change: E17G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212674

Predicted Effect

probably benign
Transcript: ENSMUST00000212725
AA Change: E322G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (49/50)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	C	12: 118,838,379 (GRCm39)	V1061G	probably damaging	Het
Acap1	A	G	11: 69,781,413 (GRCm39)		probably null	Het
Apbb1	A	G	7: 105,215,902 (GRCm39)	F112L	probably benign	Het
Atg9a	A	G	1: 75,161,702 (GRCm39)	S615P	probably benign	Het
Atp8a2	G	A	14: 60,249,848 (GRCm39)	R548*	probably null	Het
Bbof1	A	T	12: 84,457,942 (GRCm39)	N69I	possibly damaging	Het
Bcl2l14	T	A	6: 134,404,370 (GRCm39)	V186D	probably benign	Het
Bmp1	T	G	14: 70,728,823 (GRCm39)	Y583S	possibly damaging	Het
Boc	A	C	16: 44,312,711 (GRCm39)	S586R	probably benign	Het
Btbd9	A	T	17: 30,518,710 (GRCm39)		probably null	Het
Cacna1e	T	C	1: 154,317,919 (GRCm39)	M1180V	probably damaging	Het
Ciao1	T	C	2: 127,088,376 (GRCm39)	H149R	probably damaging	Het
Cops5	T	C	1: 10,100,920 (GRCm39)		probably benign	Het
Doc2b	C	T	11: 75,671,093 (GRCm39)	R209Q	probably damaging	Het
Doc2b	T	C	11: 75,686,451 (GRCm39)	Y90C	probably benign	Het
Ep400	A	G	5: 110,901,675 (GRCm39)	F481L	probably benign	Het
Fat4	T	A	3: 39,061,229 (GRCm39)		probably null	Het
Fbxw16	T	A	9: 109,277,837 (GRCm39)		probably benign	Het
Gm29735	G	A	7: 141,710,367 (GRCm39)	P162S	unknown	Het
Gypa	T	G	8: 81,222,969 (GRCm39)	S24R	unknown	Het
Hdhd5	T	C	6: 120,495,485 (GRCm39)	N153D	probably benign	Het
Ibsp	C	A	5: 104,449,987 (GRCm39)		probably null	Het
Klhdc3	C	T	17: 46,988,972 (GRCm39)	V73I	probably benign	Het
Lrrc37a	T	C	11: 103,388,459 (GRCm39)	E2322G	unknown	Het
Lrrtm3	T	C	10: 63,765,913 (GRCm39)	H558R	probably benign	Het
Mbtd1	C	T	11: 93,823,058 (GRCm39)	H493Y	possibly damaging	Het
Mphosph9	A	G	5: 124,458,978 (GRCm39)	V64A	possibly damaging	Het
Nthl1	C	T	17: 24,857,475 (GRCm39)	R251C	probably damaging	Het
Numa1	G	A	7: 101,649,974 (GRCm39)	R1235H	probably benign	Het
Opn1sw	T	A	6: 29,379,413 (GRCm39)	Y197F	possibly damaging	Het
Or10a3m	T	C	7: 108,312,845 (GRCm39)	V95A	probably damaging	Het
Pcca	A	T	14: 122,896,187 (GRCm39)	I268F	probably benign	Het
Per2	A	T	1: 91,377,594 (GRCm39)	D76E	unknown	Het
Pfas	T	C	11: 68,888,825 (GRCm39)	N374S	probably benign	Het
Pomk	C	A	8: 26,472,955 (GRCm39)	V333F	probably damaging	Het
Ptgfr	T	C	3: 151,540,926 (GRCm39)	E194G	probably benign	Het
Ptpn14	C	T	1: 189,582,997 (GRCm39)	P615S	probably damaging	Het
Pyroxd1	T	C	6: 142,300,479 (GRCm39)	I203T	probably benign	Het
Rgs22	T	C	15: 36,087,520 (GRCm39)	N466S	probably benign	Het
Rpl3l	G	A	17: 24,952,966 (GRCm39)	V309I	probably benign	Het
Rtkn2	C	T	10: 67,815,529 (GRCm39)		probably benign	Het
Sec16a	C	T	2: 26,318,253 (GRCm39)	A1613T	probably damaging	Het
Sis	T	A	3: 72,874,103 (GRCm39)	T33S	probably damaging	Het
Slc22a4	C	A	11: 53,898,634 (GRCm39)	V153F	possibly damaging	Het
Stxbp1	C	G	2: 32,684,621 (GRCm39)	E603Q	probably damaging	Het
Tiam2	A	G	17: 3,559,831 (GRCm39)	S1291G	probably damaging	Het
Tmem94	T	A	11: 115,687,572 (GRCm39)	L1144M	probably damaging	Het
Ttn	G	A	2: 76,579,673 (GRCm39)	T23740M	probably damaging	Het
Vmn1r201	T	C	13: 22,659,533 (GRCm39)	V249A	probably benign	Het
Wdr7	T	A	18: 63,888,182 (GRCm39)	C552S	probably damaging	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
R6693:Fbxw27	UTSW	9	109,617,112 (GRCm39)	missense	probably benign	0.45
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'- AGAAGTTTGTCATAGAGGTCATGAC -3'
(R):5'- AGGTGTTTTACATGAGCAGCC -3'

Sequencing Primer
(F):5'- AAAGGTGTGCACTACCATGCTTG -3'
(R):5'- TGTCAAGAAGCCTTCTGG -3'

Posted On

2018-04-02