Mutagenetix > Incidental Mutation

Incidental Mutation 'R5303:Zfyve1'

404369

Institutional Source

Beutler Lab

Gene Symbol

Zfyve1

Ensembl Gene

ENSMUSG00000042628

Gene Name

zinc finger, FYVE domain containing 1

Synonyms

MMRRC Submission

042886-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5303 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83593332-83643996 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 83621830 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 188 (N188K)

Ref Sequence

ENSEMBL: ENSMUSP00000152501 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048319] [ENSMUST00000221919]

AlphaFold

Q810J8

Predicted Effect

probably damaging
Transcript: ENSMUST00000048319
AA Change: N188K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000042224
Gene: ENSMUSG00000042628
AA Change: N188K

Domain	Start	End	E-Value	Type
low complexity region	429	436	N/A	INTRINSIC
FYVE	590	660	8.36e-13	SMART
FYVE	707	776	1.15e-10	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000221919
AA Change: N188K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Meta Mutation Damage Score

0.6533

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 95.9%

Validation Efficiency

98% (63/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The FYVE domain mediates the recruitment of proteins involved in membrane trafficking and cell signaling to phosphatidylinositol 3-phosphate-containing membranes. This protein contains two zinc-binding FYVE domains in tandem and is reported to localize to the Golgi apparatus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	C	G	3: 124,199,999 (GRCm39)	G531A	probably damaging	Het
4921504E06Rik	A	G	2: 19,521,110 (GRCm39)	Y256H	possibly damaging	Het
Abcc12	C	A	8: 87,236,415 (GRCm39)	R1133L	probably benign	Het
Acss3	T	A	10: 106,920,712 (GRCm39)	T133S	possibly damaging	Het
Adra1d	G	A	2: 131,388,169 (GRCm39)	P462L	possibly damaging	Het
Ank2	A	T	3: 126,739,453 (GRCm39)		probably benign	Het
Arid2	G	A	15: 96,290,349 (GRCm39)	R1748Q	probably damaging	Het
B3glct	C	T	5: 149,677,488 (GRCm39)		probably benign	Het
C3ar1	A	T	6: 122,826,794 (GRCm39)	S474R	probably damaging	Het
Cd1d1	A	G	3: 86,905,427 (GRCm39)	F189L	probably benign	Het
Cd46	T	C	1: 194,744,707 (GRCm39)	I344V	probably benign	Het
Chrna1	T	C	2: 73,396,618 (GRCm39)	M426V	probably benign	Het
Cinp	G	A	12: 110,843,295 (GRCm39)	T139M	probably damaging	Het
Cplane1	G	A	15: 8,290,174 (GRCm39)		probably null	Het
Disp2	T	C	2: 118,641,329 (GRCm39)		probably benign	Het
Dnaaf6rt	G	A	1: 31,262,537 (GRCm39)	R173H	probably damaging	Het
Eapp	G	A	12: 54,739,703 (GRCm39)	P38L	probably damaging	Het
Eif4g3	T	C	4: 137,853,873 (GRCm39)	S480P	probably benign	Het
Epb41l3	G	C	17: 69,564,444 (GRCm39)	E390Q	probably damaging	Het
Fermt1	T	C	2: 132,753,259 (GRCm39)		probably null	Het
Foxf2	T	A	13: 31,810,463 (GRCm39)	F134Y	possibly damaging	Het
Foxp2	T	A	6: 15,324,636 (GRCm39)	C95S	probably benign	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gria1	A	G	11: 57,133,851 (GRCm39)	T577A	probably benign	Het
Hal	A	G	10: 93,352,227 (GRCm39)		probably benign	Het
Hdac7	C	A	15: 97,695,899 (GRCm39)	E670D	probably damaging	Het
Islr2	A	T	9: 58,115,558 (GRCm39)		probably benign	Het
Itpr3	T	C	17: 27,335,663 (GRCm39)	Y2258H	probably benign	Het
Mical3	G	T	6: 120,936,941 (GRCm39)	T1195K	probably benign	Het
Myh1	T	C	11: 67,092,843 (GRCm39)	S46P	probably benign	Het
Mylk3	T	A	8: 86,077,105 (GRCm39)	I444F	probably damaging	Het
Nlrc3	A	T	16: 3,781,478 (GRCm39)	C644S	probably benign	Het
Notch1	C	T	2: 26,368,631 (GRCm39)	V553M	probably benign	Het
Or10g9	A	G	9: 39,911,884 (GRCm39)	I213T	probably damaging	Het
Or4a72	T	A	2: 89,405,345 (GRCm39)	I242F	possibly damaging	Het
Or51a43	T	C	7: 103,718,239 (GRCm39)		probably benign	Het
Or5b102	T	A	19: 13,041,139 (GRCm39)	Y121*	probably null	Het
Postn	A	G	3: 54,285,018 (GRCm39)	T669A	probably damaging	Het
Ppp5c	G	T	7: 16,739,209 (GRCm39)	Q472K	probably benign	Het
Qsox1	T	C	1: 155,655,039 (GRCm39)	H708R	probably benign	Het
Rhbdl2	A	G	4: 123,704,014 (GRCm39)		probably benign	Het
Ryr1	C	T	7: 28,767,907 (GRCm39)	E2884K	probably damaging	Het
Saysd1	T	C	14: 20,133,026 (GRCm39)	T44A	probably benign	Het
Septin14	T	A	5: 129,766,712 (GRCm39)	M290L	possibly damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Slc38a8	C	A	8: 120,212,780 (GRCm39)	V294L	possibly damaging	Het
Spdye4b	C	T	5: 143,188,158 (GRCm39)	T217I	probably benign	Het
Sugp2	T	A	8: 70,694,827 (GRCm39)		probably benign	Het
Syne1	T	C	10: 5,370,464 (GRCm39)	T232A	probably benign	Het
Tbc1d5	A	T	17: 51,043,228 (GRCm39)	D753E	probably benign	Het
Tmed1	G	T	9: 21,421,343 (GRCm39)	Q44K	possibly damaging	Het
Ttc6	T	A	12: 57,622,606 (GRCm39)	S2T	possibly damaging	Het
Ube4b	T	C	4: 149,468,260 (GRCm39)	D172G	probably damaging	Het
Vmn1r235	C	A	17: 21,482,268 (GRCm39)	Q198K	probably benign	Het
Wdfy3	T	C	5: 102,100,849 (GRCm39)	H256R	probably damaging	Het
Zfat	A	T	15: 67,982,335 (GRCm39)	H1059Q	probably damaging	Het
Zfp758	A	G	17: 22,593,842 (GRCm39)	I77M	probably benign	Het
Zfp850	C	T	7: 27,707,838 (GRCm39)	A2T	probably damaging	Het
Zyg11a	C	T	4: 108,041,629 (GRCm39)		probably null	Het

Other mutations in Zfyve1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Zfyve1	APN	12	83,621,572 (GRCm39)	missense	probably benign	0.09
IGL00475:Zfyve1	APN	12	83,602,485 (GRCm39)	critical splice acceptor site	probably null
IGL01291:Zfyve1	APN	12	83,601,779 (GRCm39)	missense	probably benign	0.04
IGL01380:Zfyve1	APN	12	83,599,281 (GRCm39)	missense	probably damaging	1.00
IGL02037:Zfyve1	APN	12	83,594,694 (GRCm39)	missense	probably damaging	1.00
IGL02184:Zfyve1	APN	12	83,605,467 (GRCm39)	missense	probably benign	0.29
IGL02619:Zfyve1	APN	12	83,597,718 (GRCm39)	unclassified	probably benign
IGL03031:Zfyve1	APN	12	83,621,595 (GRCm39)	missense	probably damaging	0.99
IGL03105:Zfyve1	APN	12	83,605,413 (GRCm39)	missense	probably damaging	1.00
sasso	UTSW	12	83,621,830 (GRCm39)	missense	probably damaging	1.00
ANU05:Zfyve1	UTSW	12	83,601,779 (GRCm39)	missense	probably benign	0.04
R0123:Zfyve1	UTSW	12	83,601,847 (GRCm39)	splice site	probably benign
R0225:Zfyve1	UTSW	12	83,601,847 (GRCm39)	splice site	probably benign
R0468:Zfyve1	UTSW	12	83,602,048 (GRCm39)	splice site	probably benign
R1218:Zfyve1	UTSW	12	83,594,825 (GRCm39)	missense	possibly damaging	0.79
R1896:Zfyve1	UTSW	12	83,602,388 (GRCm39)	missense	probably damaging	0.99
R2291:Zfyve1	UTSW	12	83,594,705 (GRCm39)	missense	probably damaging	0.99
R4023:Zfyve1	UTSW	12	83,641,296 (GRCm39)	missense	probably benign
R4026:Zfyve1	UTSW	12	83,641,296 (GRCm39)	missense	probably benign
R4209:Zfyve1	UTSW	12	83,621,909 (GRCm39)	missense	probably damaging	1.00
R4211:Zfyve1	UTSW	12	83,621,909 (GRCm39)	missense	probably damaging	1.00
R4780:Zfyve1	UTSW	12	83,605,421 (GRCm39)	missense	probably damaging	1.00
R4907:Zfyve1	UTSW	12	83,621,646 (GRCm39)	missense	probably damaging	0.96
R4908:Zfyve1	UTSW	12	83,598,345 (GRCm39)	missense	probably damaging	1.00
R4998:Zfyve1	UTSW	12	83,594,839 (GRCm39)	missense	possibly damaging	0.69
R5076:Zfyve1	UTSW	12	83,602,421 (GRCm39)	missense	probably damaging	1.00
R5628:Zfyve1	UTSW	12	83,621,663 (GRCm39)	missense	probably benign	0.00
R5739:Zfyve1	UTSW	12	83,621,910 (GRCm39)	missense	possibly damaging	0.61
R6007:Zfyve1	UTSW	12	83,605,478 (GRCm39)	missense	probably damaging	1.00
R6355:Zfyve1	UTSW	12	83,641,415 (GRCm39)	missense	probably benign	0.01
R6641:Zfyve1	UTSW	12	83,641,270 (GRCm39)	missense	probably benign
R6735:Zfyve1	UTSW	12	83,641,618 (GRCm39)	missense	possibly damaging	0.90
R7222:Zfyve1	UTSW	12	83,601,779 (GRCm39)	missense	probably benign
R7278:Zfyve1	UTSW	12	83,598,314 (GRCm39)	missense	probably damaging	1.00
R7464:Zfyve1	UTSW	12	83,598,261 (GRCm39)	missense	probably benign	0.00
R8690:Zfyve1	UTSW	12	83,597,681 (GRCm39)	missense	probably damaging	1.00
R8857:Zfyve1	UTSW	12	83,598,374 (GRCm39)	missense	probably damaging	1.00
R8948:Zfyve1	UTSW	12	83,594,802 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GTCCTCTGGCTCAGATTCAC -3'
(R):5'- TTTCCTGGGAAGCAGTCATATTTC -3'

Sequencing Primer
(F):5'- CTCTGGCTCAGATTCACGGTGG -3'
(R):5'- GAGGACTTTATCAGGAAATTGG -3'

Posted On

2016-07-22