Mutagenetix > Incidental Mutation

Incidental Mutation 'R4908:Zfyve1'

379228

Institutional Source

Beutler Lab

Gene Symbol

Zfyve1

Ensembl Gene

ENSMUSG00000042628

Gene Name

zinc finger, FYVE domain containing 1

Synonyms

MMRRC Submission

042510-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4908 (G1)

Quality Score

133

Status

Not validated

Chromosome

Chromosomal Location

83593332-83643996 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 83598345 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 628 (C628S)

Ref Sequence

ENSEMBL: ENSMUSP00000152501 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048319] [ENSMUST00000221919] [ENSMUST00000222448]

AlphaFold

Q810J8

Predicted Effect

probably damaging
Transcript: ENSMUST00000048319
AA Change: C628S

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

SMART Domains

Protein: ENSMUSP00000042224
Gene: ENSMUSG00000042628
AA Change: C628S

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

noncoding transcript
Transcript: ENSMUST00000221228

Predicted Effect

probably damaging
Transcript: ENSMUST00000221919
AA Change: C628S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000222448

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.0%

Validation Efficiency

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059G10Rik	T	A	9: 122,778,008 (GRCm39)	I79L	probably benign	Het
Ablim2	C	T	5: 35,959,766 (GRCm39)	R73C	possibly damaging	Het
Acaa1a	G	A	9: 119,177,772 (GRCm39)	S218N	probably benign	Het
Acsm5	A	T	7: 119,137,314 (GRCm39)	I377F	probably damaging	Het
Ahnak2	T	C	12: 112,741,706 (GRCm39)	T789A	probably benign	Het
Ak9	A	T	10: 41,296,678 (GRCm39)	T1475S	unknown	Het
AU040320	A	T	4: 126,747,081 (GRCm39)	N1028Y	probably damaging	Het
Bahcc1	T	A	11: 120,178,580 (GRCm39)	S2380T	probably benign	Het
Cadps	A	G	14: 12,536,386 (GRCm38)	Y525H	probably damaging	Het
Casp8ap2	A	G	4: 32,639,905 (GRCm39)	T320A	possibly damaging	Het
Ccdc138	A	G	10: 58,380,817 (GRCm39)	N483D	possibly damaging	Het
Ccdc39	G	A	3: 33,893,242 (GRCm39)		probably null	Het
Cd300c2	T	C	11: 114,887,772 (GRCm39)	N210S	probably damaging	Het
Cd84	A	G	1: 171,700,432 (GRCm39)	D183G	probably damaging	Het
Cep95	C	T	11: 106,702,172 (GRCm39)	P390S	probably damaging	Het
Chd9	A	T	8: 91,741,877 (GRCm39)	H1622L	possibly damaging	Het
Cilp	C	A	9: 65,185,302 (GRCm39)	Q466K	probably benign	Het
Cinp	T	A	12: 110,850,487 (GRCm39)	T5S	probably damaging	Het
Clec4a2	T	C	6: 123,119,462 (GRCm39)	L238S	probably damaging	Het
Cntrob	T	C	11: 69,211,732 (GRCm39)	Y164C	probably damaging	Het
Col6a3	A	G	1: 90,735,246 (GRCm39)	L1408P	probably damaging	Het
Cul3	G	A	1: 80,258,632 (GRCm39)	S468L	possibly damaging	Het
Dnah11	T	A	12: 118,090,618 (GRCm39)	D1081V	probably benign	Het
Dnah2	C	A	11: 69,411,973 (GRCm39)	V263L	probably benign	Het
Efna3	C	G	3: 89,222,805 (GRCm39)	R185P	probably damaging	Het
F5	A	T	1: 164,039,389 (GRCm39)	I2000F	probably damaging	Het
Fancm	G	A	12: 65,141,645 (GRCm39)	G422E	probably benign	Het
Gcnt2	A	T	13: 41,014,210 (GRCm39)	D127V	probably damaging	Het
Gm21798	G	T	15: 64,689,618 (GRCm39)		probably benign	Het
Gramd1a	A	C	7: 30,838,292 (GRCm39)	S320R	probably benign	Het
Grn	T	C	11: 102,327,344 (GRCm39)		probably benign	Het
Helq	A	T	5: 100,910,507 (GRCm39)		probably null	Het
Herc2	A	G	7: 55,827,660 (GRCm39)	I2914V	probably benign	Het
Hnrnph1	T	C	11: 50,269,237 (GRCm39)	V27A	probably damaging	Het
Hs1bp3	G	T	12: 8,374,007 (GRCm39)	G182C	probably damaging	Het
Idnk	C	T	13: 58,311,267 (GRCm39)	P78L	probably benign	Het
Il10ra	T	C	9: 45,166,919 (GRCm39)	D544G	probably benign	Het
Inpp5e	T	C	2: 26,290,918 (GRCm39)	D383G	probably damaging	Het
Jak1	A	T	4: 101,036,911 (GRCm39)	V243D	probably damaging	Het
Kcnma1	A	T	14: 23,359,220 (GRCm39)	S1036T	probably damaging	Het
Kif26a	G	A	12: 112,123,776 (GRCm39)	C127Y	probably damaging	Het
Kif2c	T	C	4: 117,023,608 (GRCm39)	E368G	probably damaging	Het
Lasp1	T	A	11: 97,724,530 (GRCm39)		probably null	Het
Lcor	T	A	19: 41,572,601 (GRCm39)	V452D	probably benign	Het
Lrrtm1	C	G	6: 77,221,661 (GRCm39)	H373D	probably benign	Het
Matr3	T	A	18: 35,705,754 (GRCm39)	D226E	probably damaging	Het
Mmp17	G	A	5: 129,682,730 (GRCm39)	W456*	probably null	Het
Mpp4	T	C	1: 59,164,748 (GRCm39)	E463G	probably damaging	Het
Myh6	A	C	14: 55,194,419 (GRCm39)	F737V	probably damaging	Het
Nars2	T	A	7: 96,672,948 (GRCm39)	D271E	probably benign	Het
Nav2	A	G	7: 49,254,258 (GRCm39)	E2352G	probably damaging	Het
Nckap1	A	G	2: 80,353,718 (GRCm39)		probably null	Het
Nckap5	A	T	1: 125,955,324 (GRCm39)	S477R	probably damaging	Het
Nek11	T	G	9: 105,175,488 (GRCm39)	I319L	probably benign	Het
Neto2	A	G	8: 86,396,393 (GRCm39)	I84T	probably damaging	Het
Nlrp9a	A	T	7: 26,250,369 (GRCm39)	I45F	probably damaging	Het
Numa1	G	A	7: 101,662,012 (GRCm39)	R548H	probably damaging	Het
Or10a5	A	C	7: 106,635,364 (GRCm39)	M1L	probably benign	Het
Or14c39	A	C	7: 86,344,395 (GRCm39)	I244L	probably benign	Het
Or2ag1b	A	T	7: 106,288,740 (GRCm39)	L66H	probably damaging	Het
Or4c10	A	T	2: 89,760,923 (GRCm39)	M257L	probably benign	Het
Or4c100	T	A	2: 88,356,254 (GRCm39)	I109N	probably damaging	Het
Or4k36	T	A	2: 111,146,574 (GRCm39)	F250Y	probably benign	Het
Or7g25	A	G	9: 19,160,149 (GRCm39)	V182A	probably benign	Het
Or9m1	A	T	2: 87,733,533 (GRCm39)	N162K	probably damaging	Het
Pcdhb16	T	A	18: 37,612,894 (GRCm39)		probably null	Het
Pdcd10	T	C	3: 75,448,553 (GRCm39)	T4A	probably damaging	Het
Pgc	A	T	17: 48,039,819 (GRCm39)	Y71F	probably damaging	Het
Phlpp1	G	A	1: 106,317,481 (GRCm39)	G1234E	probably damaging	Het
Prr27	T	C	5: 87,990,888 (GRCm39)	F167L	probably benign	Het
Prrc2b	T	A	2: 32,116,330 (GRCm39)	S1421T	possibly damaging	Het
Pxmp2	A	G	5: 110,431,518 (GRCm39)	V75A	probably benign	Het
Pygl	A	T	12: 70,243,807 (GRCm39)	M545K	probably null	Het
Ranbp9	A	G	13: 43,574,733 (GRCm39)	Y412H	possibly damaging	Het
Rcc1	A	G	4: 132,065,064 (GRCm39)	V140A	probably damaging	Het
Reln	A	G	5: 22,184,718 (GRCm39)	V1599A	probably benign	Het
Rhebl1	A	T	15: 98,776,903 (GRCm39)	D122E	probably damaging	Het
Rock2	C	T	12: 17,009,492 (GRCm39)	L676F	probably benign	Het
Scn9a	A	T	2: 66,357,087 (GRCm39)	D1062E	probably benign	Het
Sec63	T	C	10: 42,681,186 (GRCm39)	I390T	probably damaging	Het
Slc10a6	T	C	5: 103,754,493 (GRCm39)	E346G	probably benign	Het
Slc12a3	G	A	8: 95,075,216 (GRCm39)	V737M	possibly damaging	Het
Slc12a8	T	C	16: 33,426,629 (GRCm39)		probably null	Het
Slc25a38	T	A	9: 119,949,354 (GRCm39)	I102N	probably damaging	Het
Spg7	T	A	8: 123,807,394 (GRCm39)	V390E	probably damaging	Het
Tbc1d20	T	C	2: 152,144,228 (GRCm39)	V75A	probably benign	Het
Tesk1	T	A	4: 43,445,555 (GRCm39)	C243*	probably null	Het
Ttk	T	A	9: 83,725,739 (GRCm39)	N220K	possibly damaging	Het
Ttll5	A	G	12: 85,965,948 (GRCm39)	E651G	probably benign	Het
Tubd1	T	C	11: 86,457,879 (GRCm39)	Y426H	probably damaging	Het
Uba6	T	C	5: 86,288,293 (GRCm39)		silent	Het
Ube2ql1	G	A	13: 69,852,289 (GRCm39)	R263W	probably damaging	Het
Vmn2r117	C	T	17: 23,678,812 (GRCm39)	G804D	probably damaging	Het
Vmn2r25	C	T	6: 123,805,406 (GRCm39)	E484K	probably benign	Het
Vmn2r4	T	A	3: 64,296,476 (GRCm39)	I770F	possibly damaging	Het
Vmn2r82	G	A	10: 79,214,589 (GRCm39)	V191M	probably benign	Het
Zbtb45	C	T	7: 12,742,037 (GRCm39)	V74M	probably damaging	Het
Zfp366	T	C	13: 99,370,609 (GRCm39)	V443A	possibly damaging	Het
Zfyve26	A	T	12: 79,296,469 (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
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
R5303:Zfyve1	UTSW	12	83,621,830 (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'- GCAACTGCTCTCAGAAGTGACG -3'
(R):5'- GTCTTGACAGAGATGGAACCC -3'

Sequencing Primer
(F):5'- TGCTCTCAGAAGTGACGGTCAG -3'
(R):5'- GAACCCGCCTTCAGGAATTTGTG -3'

Posted On

2016-04-15