Mutagenetix > Incidental Mutation

Incidental Mutation 'R9766:Fbxw27'

733287

Institutional Source

Beutler Lab

Gene Symbol

Fbxw27

Ensembl Gene

ENSMUSG00000104614

Gene Name

F-box and WD-40 domain protein 27

Synonyms

1700124P09Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9766 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

109595113-109619738 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 109602215 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 253 (K253E)

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

probably benign
Transcript: ENSMUST00000199430

Predicted Effect

probably benign
Transcript: ENSMUST00000211814

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212725
AA Change: K253E

PolyPhen 2 Score 0.625 (Sensitivity: 0.87; Specificity: 0.91)

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,385,788 (GRCm39)	V59A	probably benign	Het
Aatk	A	T	11: 119,902,565 (GRCm39)	H610Q	probably benign	Het
Acox1	G	A	11: 116,071,867 (GRCm39)	A187V	probably damaging	Het
Acsbg3	A	G	17: 57,189,177 (GRCm39)	Y195C	probably benign	Het
AI661453	C	T	17: 47,757,570 (GRCm39)	R76W	probably damaging	Het
Anapc1	C	T	2: 128,500,221 (GRCm39)	R808Q	probably damaging	Het
Ankrd26	T	C	6: 118,500,067 (GRCm39)	T1135A	possibly damaging	Het
Arhgap17	A	G	7: 122,921,148 (GRCm39)	V113A	probably benign	Het
Art3	T	C	5: 92,562,138 (GRCm39)	C379R	unknown	Het
Bltp3a	T	C	17: 28,105,799 (GRCm39)	L775P	probably damaging	Het
Bmp5	A	G	9: 75,800,982 (GRCm39)	I371V	probably damaging	Het
Ccdc88b	T	A	19: 6,833,096 (GRCm39)	E281V	probably damaging	Het
Ces1e	A	T	8: 93,946,031 (GRCm39)	Y171N	probably damaging	Het
Cib3	A	T	8: 72,961,034 (GRCm39)	F68I	possibly damaging	Het
Crtac1	A	T	19: 42,402,557 (GRCm39)	L17Q	possibly damaging	Het
Crybg3	A	T	16: 59,376,207 (GRCm39)	S1682R	probably benign	Het
Ddx60	G	A	8: 62,465,312 (GRCm39)	G1323D	probably damaging	Het
Dock3	A	C	9: 106,788,483 (GRCm39)	D161E	probably benign	Het
Dpep3	A	C	8: 106,705,369 (GRCm39)	L127R	probably damaging	Het
Dus2	A	G	8: 106,772,568 (GRCm39)	D226G	probably damaging	Het
Ebna1bp2	T	C	4: 118,480,821 (GRCm39)	V184A	possibly damaging	Het
Edem1	T	A	6: 108,823,648 (GRCm39)	I348N	probably damaging	Het
Efcab8	A	T	2: 153,656,362 (GRCm39)	M599L	unknown	Het
Eif2ak4	A	T	2: 118,261,313 (GRCm39)	K618*	probably null	Het
Fgf5	A	G	5: 98,423,113 (GRCm39)	E166G	possibly damaging	Het
Flot1	G	T	17: 36,141,555 (GRCm39)	E321*	probably null	Het
Gm14443	T	C	2: 175,012,248 (GRCm39)	E66G	probably benign	Het
Gprc6a	G	A	10: 51,491,884 (GRCm39)	P622S	probably damaging	Het
Gsta2	A	T	9: 78,244,876 (GRCm39)	Y79*	probably null	Het
Hecw2	A	G	1: 53,904,287 (GRCm39)	S1154P	probably damaging	Het
Hrob	A	T	11: 102,146,586 (GRCm39)	Q287H	possibly damaging	Het
Kcnd2	T	C	6: 21,216,367 (GRCm39)	S24P	probably benign	Het
Knl1	A	G	2: 118,900,381 (GRCm39)	D694G	probably damaging	Het
L1td1	T	C	4: 98,624,753 (GRCm39)	I316T	probably benign	Het
Lrsam1	G	T	2: 32,818,077 (GRCm39)	Q660K	probably benign	Het
Muc16	T	A	9: 18,548,153 (GRCm39)	T6047S	probably benign	Het
Muc16	T	A	9: 18,552,383 (GRCm39)	T4637S	probably benign	Het
Myo5a	T	C	9: 75,078,914 (GRCm39)	Y891H	probably damaging	Het
Nkd2	G	T	13: 73,995,131 (GRCm39)	D22E	possibly damaging	Het
Patl2	A	T	2: 121,954,212 (GRCm39)	V453E	probably damaging	Het
Pcnx2	A	G	8: 126,488,313 (GRCm39)	Y1744H	probably damaging	Het
Phf8-ps	T	G	17: 33,285,647 (GRCm39)	N385T	probably damaging	Het
Pira2	T	A	7: 3,845,517 (GRCm39)	H289L	possibly damaging	Het
Pitpnm1	T	C	19: 4,158,117 (GRCm39)	I569T	probably benign	Het
Ppp4r4	T	C	12: 103,562,735 (GRCm39)	V568A	probably benign	Het
Ptf1a	G	A	2: 19,451,062 (GRCm39)	G131S	probably benign	Het
Rasgrf2	G	T	13: 92,160,188 (GRCm39)	H396N	probably damaging	Het
Rfx1	C	T	8: 84,814,376 (GRCm39)	T315M	probably damaging	Het
Rnf207	C	A	4: 152,400,402 (GRCm39)	R148L	probably damaging	Het
Scn11a	T	G	9: 119,584,181 (GRCm39)	N1478T	probably damaging	Het
Sdr39u1	C	T	14: 56,135,194 (GRCm39)	V250I	probably benign	Het
Serinc3	T	C	2: 163,471,095 (GRCm39)	T276A	probably damaging	Het
Speer4a3	AACT	A	5: 26,155,849 (GRCm39)		probably benign	Het
Stambp	C	A	6: 83,534,469 (GRCm39)	A273S	probably benign	Het
Taf2	T	C	15: 54,910,881 (GRCm39)		probably null	Het
Tex26	A	T	5: 149,386,642 (GRCm39)	Y232F	probably damaging	Het
Tmem258	T	C	19: 10,184,578 (GRCm39)	L55P	probably damaging	Het
Trappc8	A	G	18: 20,979,630 (GRCm39)	I755T	possibly damaging	Het
Ubr4	T	C	4: 139,194,595 (GRCm39)	Y1163H	unknown	Het
Usp14	G	A	18: 10,005,630 (GRCm39)	T254I	probably benign	Het
Vcan	A	G	13: 89,839,247 (GRCm39)	L2099P	probably benign	Het
Wdfy3	C	T	5: 102,042,866 (GRCm39)	V1962I	possibly damaging	Het
Zfp407	T	C	18: 84,577,574 (GRCm39)	T1180A	probably benign	Het
Zfp644	C	A	5: 106,784,691 (GRCm39)	G619C	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
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
Z1177:Fbxw27	UTSW	9	109,601,246 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAGGTTACTACTCCCAAGCAC -3'
(R):5'- TGGTGTATCTCTGAGCAGATAACAC -3'

Sequencing Primer
(F):5'- TATCCCTGAAGGCTCAAC -3'
(R):5'- AGATAACACTGCTTCCTCCATAC -3'

Posted On

2022-11-14