Mutagenetix > Incidental Mutation

Incidental Mutation 'R6172:Fbxw27'

488256

Institutional Source

Beutler Lab

Gene Symbol

Fbxw27

Ensembl Gene

ENSMUSG00000104614

Gene Name

F-box and WD-40 domain protein 27

Synonyms

1700124P09Rik

MMRRC Submission

044315-MU

Accession Numbers

Essential gene?

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

Stock #

R6172 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

109595113-109619738 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 109601337 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 261 (V261E)

Ref Sequence

ENSEMBL: ENSMUSP00000148340 (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

probably benign
Transcript: ENSMUST00000211814

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212674

Predicted Effect

probably damaging
Transcript: ENSMUST00000212725
AA Change: V261E

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

Meta Mutation Damage Score

0.7829

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.5%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap42	A	T	9: 9,148,246 (GRCm39)	C108S	possibly damaging	Het
Bbs2	T	C	8: 94,814,039 (GRCm39)	E193G	probably benign	Het
Bpifb2	C	A	2: 153,732,332 (GRCm39)	H310Q	probably benign	Het
Cand2	A	G	6: 115,768,271 (GRCm39)	E472G	probably benign	Het
Cd81	A	G	7: 142,606,691 (GRCm39)		probably benign	Het
Chd5	A	T	4: 152,463,848 (GRCm39)	H1476L	probably damaging	Het
Clpx	C	A	9: 65,209,161 (GRCm39)	S92*	probably null	Het
Cstf3	T	C	2: 104,481,987 (GRCm39)	V276A	probably damaging	Het
Ehd4	G	A	2: 119,932,737 (GRCm39)	Q230*	probably null	Het
Erich3	A	G	3: 154,469,978 (GRCm39)	T4A	possibly damaging	Het
Erlin2	T	G	8: 27,526,123 (GRCm39)		probably null	Het
Exosc1	C	A	19: 41,912,442 (GRCm39)	Q148H	probably damaging	Het
Flrt2	T	A	12: 95,746,305 (GRCm39)	N214K	probably damaging	Het
Foxp1	G	A	6: 98,992,471 (GRCm39)	Q41*	probably null	Het
Foxp1	C	A	6: 98,992,475 (GRCm39)		probably null	Het
Frk	T	C	10: 34,467,961 (GRCm39)	L325P	probably damaging	Het
Gm21698	T	C	5: 26,192,371 (GRCm39)	I72V	probably benign	Het
Gm39115	A	T	7: 141,689,651 (GRCm39)	C41S	unknown	Het
Hectd1	G	A	12: 51,816,065 (GRCm39)	P1336S	probably damaging	Het
Ighv7-1	T	C	12: 113,860,183 (GRCm39)	S70G	probably damaging	Het
Itga10	T	C	3: 96,554,753 (GRCm39)	I78T	probably benign	Het
Itgb4	A	G	11: 115,891,237 (GRCm39)	H1218R	probably benign	Het
Marchf6	A	T	15: 31,483,013 (GRCm39)	N463K	possibly damaging	Het
Muc5b	A	C	7: 141,412,513 (GRCm39)	T1820P	unknown	Het
Nfatc4	A	G	14: 56,066,990 (GRCm39)	T510A	possibly damaging	Het
Nwd2	G	T	5: 63,964,249 (GRCm39)	V1278F	probably damaging	Het
Or52n2c	A	C	7: 104,574,503 (GRCm39)	M156R	probably benign	Het
Or7g19	A	G	9: 18,856,042 (GRCm39)	T33A	probably benign	Het
P2rx1	G	A	11: 72,900,856 (GRCm39)	V209M	probably damaging	Het
Pkn1	T	C	8: 84,397,384 (GRCm39)	K874R	possibly damaging	Het
Plec	C	T	15: 76,056,576 (GRCm39)	V4444I	probably damaging	Het
Ppp1r37	A	T	7: 19,266,329 (GRCm39)	M479K	possibly damaging	Het
Prr11	A	C	11: 86,994,449 (GRCm39)	F66V	probably benign	Het
Rbbp5	A	G	1: 132,424,554 (GRCm39)	D268G	possibly damaging	Het
Rbbp6	T	A	7: 122,597,778 (GRCm39)	Y734*	probably null	Het
Rc3h2	GCC	GCCC	2: 37,304,745 (GRCm39)		probably null	Het
Rhou	A	G	8: 124,387,903 (GRCm39)	K212E	probably benign	Het
Rsph1	G	A	17: 31,492,392 (GRCm39)	T58I	probably benign	Het
Serpina3m	A	G	12: 104,355,486 (GRCm39)	N51S	probably damaging	Het
Shisa6	A	T	11: 66,108,832 (GRCm39)	D348E	probably benign	Het
Slc6a5	T	A	7: 49,598,081 (GRCm39)	Y648*	probably null	Het
Stag3	A	G	5: 138,298,105 (GRCm39)	D699G	probably benign	Het
Terf2ip	A	T	8: 112,744,649 (GRCm39)	D322V	probably damaging	Het
Vmn1r125	A	T	7: 21,006,275 (GRCm39)	M58L	probably benign	Het
Wdr49	T	A	3: 75,205,487 (GRCm39)	D643V	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
R6295:Fbxw27	UTSW	9	109,601,154 (GRCm39)	missense	possibly damaging	0.82
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'- TCTGGCTTGAGAACTTTCTAAGG -3'
(R):5'- AGGGTGAGTTATTCGGACCC -3'

Sequencing Primer
(F):5'- GGCTTGAGAACTTTCTAAGGTTTACC -3'
(R):5'- CTGAGTGGGAACAATGACTGCTC -3'

Posted On

2017-10-10