Mutagenetix > Incidental Mutation

Incidental Mutation 'R9053:Flot1'

688539

Institutional Source

Beutler Lab

Gene Symbol

Flot1

Ensembl Gene

ENSMUSG00000059714

Gene Name

flotillin 1

Synonyms

reggie-2

MMRRC Submission

068879-MU

Accession Numbers

Essential gene?

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

Stock #

R9053 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36134243-36143674 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36140859 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 283 (V283E)

Ref Sequence

ENSEMBL: ENSMUSP00000001569 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001566] [ENSMUST00000001569] [ENSMUST00000172846] [ENSMUST00000173147] [ENSMUST00000173493] [ENSMUST00000173628] [ENSMUST00000174080]

AlphaFold

O08917

Predicted Effect

probably benign
Transcript: ENSMUST00000001566

SMART Domains

Protein: ENSMUSP00000001566
Gene: ENSMUSG00000001525

Domain	Start	End	E-Value	Type
Tubulin	47	244	6.29e-67	SMART
Tubulin_C	246	383	7.25e-49	SMART
low complexity region	428	444	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000001569
AA Change: V283E

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

SMART Domains

Protein: ENSMUSP00000001569
Gene: ENSMUSG00000059714
AA Change: V283E

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: 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

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

probably benign
Transcript: ENSMUST00000173628

Predicted Effect

probably damaging
Transcript: ENSMUST00000174080
AA Change: V235E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134227
Gene: ENSMUSG00000059714
AA Change: V235E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

96% (50/52)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat3	A	G	17: 13,147,402 (GRCm39)	V205A	probably damaging	Het
Acp7	A	G	7: 28,316,616 (GRCm39)	F120L	possibly damaging	Het
Adh4	T	C	3: 138,128,045 (GRCm39)	V157A	probably damaging	Het
Ahsa2	T	C	11: 23,443,314 (GRCm39)	E146G	probably benign	Het
Ank3	T	C	10: 69,822,389 (GRCm39)	S353P		Het
Apob	T	C	12: 8,058,954 (GRCm39)	S2479P	possibly damaging	Het
Arhgef37	A	G	18: 61,641,760 (GRCm39)	L203P	probably damaging	Het
Arpp21	T	A	9: 111,984,583 (GRCm39)	N265I	possibly damaging	Het
Cfap20dc	T	C	14: 8,518,768 (GRCm38)		probably null	Het
Dagla	G	A	19: 10,246,615 (GRCm39)	R162C	probably damaging	Het
Ddx18	T	C	1: 121,489,135 (GRCm39)	D304G	probably damaging	Het
Dnah3	A	T	7: 119,618,987 (GRCm39)	L1638Q	possibly damaging	Het
Dnah6	T	A	6: 73,061,640 (GRCm39)	N2815I	possibly damaging	Het
Dnajc16	T	C	4: 141,510,371 (GRCm39)	D94G	probably benign	Het
Epor	G	T	9: 21,870,655 (GRCm39)	D408E	probably benign	Het
Erbb4	T	C	1: 68,289,779 (GRCm39)	N754S	possibly damaging	Het
Etaa1	A	G	11: 17,895,798 (GRCm39)	I773T	probably benign	Het
Fat4	T	A	3: 38,941,324 (GRCm39)	Y72*	probably null	Het
Fbxw18	T	G	9: 109,517,491 (GRCm39)	D404A	probably benign	Het
Gm5145	G	T	17: 20,791,194 (GRCm39)	G191W	probably damaging	Het
Gpr161	G	A	1: 165,134,166 (GRCm39)		probably benign	Het
Helz	C	A	11: 107,563,761 (GRCm39)	Q1734K	unknown	Het
Hycc1	A	G	5: 24,184,579 (GRCm39)	C300R	possibly damaging	Het
Ints1	A	G	5: 139,747,822 (GRCm39)	V1195A	possibly damaging	Het
Khdc4	T	A	3: 88,596,582 (GRCm39)	L121Q	probably damaging	Het
Kmt2a	T	A	9: 44,732,716 (GRCm39)	T2534S	unknown	Het
Lingo3	T	C	10: 80,670,821 (GRCm39)	N370D	probably benign	Het
Lrp1b	A	G	2: 40,748,501 (GRCm39)	V3113A		Het
Mthfs	C	T	9: 89,097,454 (GRCm39)	L104F	probably damaging	Het
Nlgn1	A	T	3: 25,488,607 (GRCm39)	V576D	probably damaging	Het
Nlrc5	A	G	8: 95,217,013 (GRCm39)	R1001G	probably benign	Het
Obscn	C	T	11: 58,972,636 (GRCm39)	A2137T	probably benign	Het
Ociad1	T	A	5: 73,460,951 (GRCm39)	H70Q	probably damaging	Het
Opa1	T	A	16: 29,404,836 (GRCm39)	C11*	probably null	Het
Or4a76	A	G	2: 89,461,161 (GRCm39)	V27A	probably benign	Het
Parp10	T	C	15: 76,125,964 (GRCm39)	E408G	possibly damaging	Het
Pcdhb19	G	A	18: 37,631,143 (GRCm39)	E313K	probably benign	Het
Pmel	G	T	10: 128,551,918 (GRCm39)	A251S	probably benign	Het
Polr3d	G	T	14: 70,678,153 (GRCm39)	P181T	probably damaging	Het
Prmt3	A	T	7: 49,430,104 (GRCm39)	H69L	probably damaging	Het
Rc3h2	A	T	2: 37,289,628 (GRCm39)	Y395N	possibly damaging	Het
Rubcnl	A	T	14: 75,269,717 (GRCm39)	N125I	possibly damaging	Het
Shprh	T	C	10: 11,030,446 (GRCm39)	F221S	probably benign	Het
Skint5	A	T	4: 113,403,684 (GRCm39)	S1179R	unknown	Het
Skint6	C	A	4: 113,095,347 (GRCm39)	G104V	probably damaging	Het
Slc44a3	T	C	3: 121,320,839 (GRCm39)	Y54C	probably damaging	Het
Sp140	TTTTTTTTTTTTT	TTTTTTTTTTTTTTTTTT	1: 85,572,290 (GRCm39)		probably benign	Het
Spag5	A	T	11: 78,212,575 (GRCm39)	I1137F	probably benign	Het
Tchp	A	T	5: 114,853,916 (GRCm39)	Y277F	probably benign	Het
Tdrd12	A	C	7: 35,204,468 (GRCm39)	L267W	probably damaging	Het
Tfcp2	A	T	15: 100,396,092 (GRCm39)	I107N		Het
Vmn1r9	T	C	6: 57,048,513 (GRCm39)	V196A	probably benign	Het
Vmn2r62	T	A	7: 42,413,920 (GRCm39)	D841V		Het
Zzef1	G	T	11: 72,813,302 (GRCm39)	R2901L	probably benign	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
R6613:Flot1	UTSW	17	36,136,703 (GRCm39)	missense	probably damaging	0.99
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
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'- AGAATGCTTCCTGGGTCTCTTC -3'
(R):5'- GCTTCTGCCTGCATGATCAG -3'

Sequencing Primer
(F):5'- ACGTTGTGTATCCCACTGG -3'
(R):5'- TGCATGATCAGCTGGGC -3'

Posted On

2021-11-19