Mutagenetix > Incidental Mutation

Incidental Mutation 'R6613:Flot1'

523810

Institutional Source

Beutler Lab

Gene Symbol

Flot1

Ensembl Gene

ENSMUSG00000059714

Gene Name

flotillin 1

Synonyms

reggie-2

MMRRC Submission

044736-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.358) question?

Stock #

R6613 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36134243-36143674 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36136703 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 167 (D167G)

Ref Sequence

ENSEMBL: ENSMUSP00000134227 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001569] [ENSMUST00000003635] [ENSMUST00000172846] [ENSMUST00000173147] [ENSMUST00000174080] [ENSMUST00000173628] [ENSMUST00000173493]

AlphaFold

O08917

Predicted Effect

probably damaging
Transcript: ENSMUST00000001569
AA Change: D215G

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000001569
Gene: ENSMUSG00000059714
AA Change: D215G

Domain	Start	End	E-Value	Type
PHB	84	266	4.92e-18	SMART
low complexity region	287	305	N/A	INTRINSIC
Pfam:Flot	308	404	3.9e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000003635

Predicted Effect

probably benign
Transcript: ENSMUST00000172846

SMART Domains

Protein: ENSMUSP00000134681
Gene: ENSMUSG00000059714

Domain	Start	End	E-Value	Type
PHB	1	168	1.02e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173147

SMART Domains

Protein: ENSMUSP00000133454
Gene: ENSMUSG00000059714

Domain	Start	End	E-Value	Type
PHB	1	168	1.02e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173273

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173337

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173381

Predicted Effect

probably damaging
Transcript: ENSMUST00000174080
AA Change: D167G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134227
Gene: ENSMUSG00000059714
AA Change: D167G

Domain	Start	End	E-Value	Type
PHB	1	218	1.92e-11	SMART
low complexity region	239	257	N/A	INTRINSIC
low complexity region	271	296	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173628

Predicted Effect

probably benign
Transcript: ENSMUST00000173493

SMART Domains

Protein: ENSMUSP00000134699
Gene: ENSMUSG00000059714

Domain	Start	End	E-Value	Type
PHB	1	168	1.02e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174227

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174297

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 93.9%

Validation Efficiency

97% (37/38)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an protein that localizes to the caveolae, which are small domains on the inner cell membranes. This protein plays a role in vesicle trafficking and cell morphology. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired neutrophil recruitment. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano2	G	A	6: 125,783,619 (GRCm39)		probably null	Het
Arfgef1	A	T	1: 10,264,621 (GRCm39)	I475N	possibly damaging	Het
Atg16l2	C	T	7: 100,939,788 (GRCm39)		probably null	Het
Atp2c2	T	G	8: 120,482,760 (GRCm39)	L874R	probably damaging	Het
C2cd3	T	A	7: 100,044,448 (GRCm39)	S343R	possibly damaging	Het
C4b	A	T	17: 34,952,539 (GRCm39)	S1167T	probably damaging	Het
Cacna1i	G	A	15: 80,205,460 (GRCm39)	G139S	probably damaging	Het
Chil6	A	T	3: 106,297,191 (GRCm39)	F317I	probably benign	Het
Cngb1	A	T	8: 95,992,638 (GRCm39)	V199E	possibly damaging	Het
Dcn	A	T	10: 97,330,902 (GRCm39)	T79S	probably benign	Het
Dcxr	A	G	11: 120,617,832 (GRCm39)	V48A	probably benign	Het
Dnajc13	A	T	9: 104,091,076 (GRCm39)	D668E	probably benign	Het
Dnajc28	C	A	16: 91,413,246 (GRCm39)	E357*	probably null	Het
Dock7	A	G	4: 98,866,197 (GRCm39)	Y1198H	probably damaging	Het
Gpn1	T	C	5: 31,654,696 (GRCm39)		probably null	Het
Hyou1	A	T	9: 44,293,795 (GRCm39)	I242F	probably damaging	Het
Igfbpl1	T	C	4: 45,813,447 (GRCm39)	N256S	probably benign	Het
Kif20b	C	T	19: 34,914,384 (GRCm39)	Q390*	probably null	Het
Lhfpl2	T	A	13: 94,311,003 (GRCm39)	F91Y	probably damaging	Het
Magi1	G	A	6: 93,722,654 (GRCm39)	T408I	probably damaging	Het
Mttp	T	C	3: 137,814,839 (GRCm39)	N479D	probably damaging	Het
Myom3	T	C	4: 135,539,770 (GRCm39)	V1339A	possibly damaging	Het
Nin	T	C	12: 70,077,728 (GRCm39)	K1733E	probably damaging	Het
Or5k1	C	A	16: 58,617,894 (GRCm39)	C105F	probably damaging	Het
Pdzrn4	T	C	15: 92,575,455 (GRCm39)	I287T	probably damaging	Het
Ptprt	A	G	2: 161,372,367 (GRCm39)	V1435A	probably damaging	Het
Rpap3	T	C	15: 97,579,722 (GRCm39)		probably null	Het
Scin	A	G	12: 40,129,714 (GRCm39)	Y360H	probably benign	Het
Sfxn5	A	G	6: 85,246,890 (GRCm39)		probably null	Het
Sgo1	A	G	17: 53,986,085 (GRCm39)	S369P	probably damaging	Het
Skil	T	A	3: 31,152,029 (GRCm39)	C184S	probably null	Het
Srcin1	A	G	11: 97,424,653 (GRCm39)	M607T	possibly damaging	Het
Ssc5d	C	T	7: 4,936,292 (GRCm39)	P513S	possibly damaging	Het
Trip10	A	G	17: 57,562,197 (GRCm39)		probably null	Het
Vmn2r114	T	A	17: 23,529,220 (GRCm39)	Q294L	possibly damaging	Het
Zc3h12c	A	G	9: 52,027,412 (GRCm39)	V650A	possibly damaging	Het

Other mutations in Flot1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01620:Flot1	APN	17	36,140,763 (GRCm39)	missense	possibly damaging	0.76
IGL01899:Flot1	APN	17	36,141,573 (GRCm39)	missense	probably benign	0.01
R0579:Flot1	UTSW	17	36,141,900 (GRCm39)	missense	probably benign	0.12
R0732:Flot1	UTSW	17	36,136,416 (GRCm39)	missense	possibly damaging	0.91
R1745:Flot1	UTSW	17	36,135,552 (GRCm39)	missense	probably damaging	0.99
R4651:Flot1	UTSW	17	36,143,436 (GRCm39)	utr 3 prime	probably benign
R5007:Flot1	UTSW	17	36,135,267 (GRCm39)	splice site	probably benign
R7145:Flot1	UTSW	17	36,135,835 (GRCm39)	missense	probably benign	0.03
R7378:Flot1	UTSW	17	36,136,405 (GRCm39)	missense	probably damaging	0.99
R8088:Flot1	UTSW	17	36,140,870 (GRCm39)	missense	probably damaging	0.98
R9053:Flot1	UTSW	17	36,140,859 (GRCm39)	missense	probably damaging	1.00
R9519:Flot1	UTSW	17	36,136,363 (GRCm39)	missense	possibly damaging	0.83
R9766:Flot1	UTSW	17	36,141,555 (GRCm39)	nonsense	probably null
Z1176:Flot1	UTSW	17	36,136,715 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGCTAGATTCTCAGGGGACAAG -3'
(R):5'- CAGAGTAAAGATCAAAGTGTCTCC -3'

Sequencing Primer
(F):5'- TTCTCAGGGGACAAGGGCAC -3'
(R):5'- AGTGTCTCCTAATACAGATGGGCTC -3'

Posted On

2018-06-22