Mutagenetix > Incidental Mutation

Incidental Mutation 'R8857:Zfyve1'

675425

Institutional Source

Beutler Lab

Gene Symbol

Zfyve1

Ensembl Gene

ENSMUSG00000042628

Gene Name

zinc finger, FYVE domain containing 1

Synonyms

MMRRC Submission

068677-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8857 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83593332-83643996 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 83598374 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 618 (H618L)

Ref Sequence

ENSEMBL: ENSMUSP00000042224 (fasta)

Gene Model

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

AlphaFold

Q810J8

Predicted Effect

probably damaging
Transcript: ENSMUST00000048319
AA Change: H618L

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

SMART Domains

Protein: ENSMUSP00000042224
Gene: ENSMUSG00000042628
AA Change: H618L

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: H618L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000222448

Meta Mutation Damage Score

0.9729

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

98% (65/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	G	A	19: 57,119,287 (GRCm39)	L266F	possibly damaging	Het
Adgrf3	A	T	5: 30,402,065 (GRCm39)	C654*	probably null	Het
Adgrl1	C	A	8: 84,657,657 (GRCm39)	A421D	probably benign	Het
Adra1b	C	G	11: 43,727,092 (GRCm39)		probably benign	Het
Apba2	T	A	7: 64,399,939 (GRCm39)	V710E	possibly damaging	Het
Arhgef5	T	C	6: 43,264,558 (GRCm39)	V1523A	probably damaging	Het
AW551984	G	C	9: 39,511,831 (GRCm39)	A60G	probably damaging	Het
Bdh1	A	T	16: 31,265,450 (GRCm39)	T42S	probably benign	Het
C130073F10Rik	G	A	4: 101,747,555 (GRCm39)	P158L	possibly damaging	Het
Cacna2d4	A	T	6: 119,248,909 (GRCm39)	K457*	probably null	Het
Chd3	G	A	11: 69,253,146 (GRCm39)	P223L	probably benign	Het
Cnst	T	C	1: 179,437,878 (GRCm39)	S481P	probably damaging	Het
Col6a3	T	A	1: 90,703,485 (GRCm39)	K3027N	unknown	Het
Csf2rb2	T	C	15: 78,178,613 (GRCm39)	D111G	probably null	Het
Disc1	A	C	8: 125,891,870 (GRCm39)	E641A	probably damaging	Het
Fbln5	C	A	12: 101,726,990 (GRCm39)	C320F	probably damaging	Het
Fbn2	G	A	18: 58,286,933 (GRCm39)	T242I	probably damaging	Het
Frem1	T	A	4: 82,922,280 (GRCm39)		probably benign	Het
Gpsm1	G	C	2: 26,230,457 (GRCm39)	G469A	possibly damaging	Het
Hic1	A	G	11: 75,056,228 (GRCm39)	I887T	probably benign	Het
Hltf	T	C	3: 20,159,825 (GRCm39)	V692A	probably damaging	Het
Hsd17b13	A	G	5: 104,125,063 (GRCm39)	L40P	probably damaging	Het
Hydin	T	C	8: 111,298,587 (GRCm39)		probably null	Het
Irf2bpl	T	C	12: 86,929,359 (GRCm39)	Y438C	possibly damaging	Het
Itgb4	A	T	11: 115,871,853 (GRCm39)	N219I	probably benign	Het
Knop1	T	C	7: 118,451,949 (GRCm39)	K257E		Het
Krtap19-5	A	T	16: 88,693,139 (GRCm39)	F58I	unknown	Het
L3mbtl2	T	A	15: 81,571,320 (GRCm39)	F709L	unknown	Het
Map1a	G	A	2: 121,138,098 (GRCm39)	R2924H	probably damaging	Het
Mfsd13a	A	G	19: 46,356,567 (GRCm39)	D224G	probably benign	Het
Mme	A	T	3: 63,256,070 (GRCm39)	N510I	probably damaging	Het
Morc2a	T	A	11: 3,627,484 (GRCm39)		probably null	Het
Mptx2	T	C	1: 173,102,452 (GRCm39)	E79G	probably benign	Het
Nutm1	A	G	2: 112,081,523 (GRCm39)	M380T	probably benign	Het
Or5ac25	A	T	16: 59,182,041 (GRCm39)	I180N	probably damaging	Het
P2rx1	A	G	11: 72,903,197 (GRCm39)		probably benign	Het
Padi4	A	G	4: 140,501,472 (GRCm39)	I7T	probably damaging	Het
Phf20l1	T	C	15: 66,513,781 (GRCm39)	S1013P	probably benign	Het
Plb1	T	C	5: 32,521,556 (GRCm39)	V1469A	unknown	Het
Polr1g	C	T	7: 19,093,355 (GRCm39)		probably benign	Het
Prkab1	T	C	5: 116,158,147 (GRCm39)	N150D	probably damaging	Het
Qsox1	A	G	1: 155,658,333 (GRCm39)	V412A	possibly damaging	Het
Rai1	A	G	11: 60,077,393 (GRCm39)	S486G	probably benign	Het
Rev3l	T	A	10: 39,670,965 (GRCm39)	Y170*	probably null	Het
Rims2	T	A	15: 39,543,044 (GRCm39)	M1426K	possibly damaging	Het
Selenoi	C	A	5: 30,461,160 (GRCm39)	S132*	probably null	Het
Shtn1	T	C	19: 58,978,800 (GRCm39)	I498M	probably damaging	Het
Sin3b	T	C	8: 73,483,523 (GRCm39)	M970T	probably benign	Het
Slc17a8	A	G	10: 89,427,022 (GRCm39)	F360L	probably damaging	Het
Slc7a11	A	G	3: 50,393,305 (GRCm39)	Y113H	probably damaging	Het
Spast	T	A	17: 74,675,938 (GRCm39)	M327K	possibly damaging	Het
Sphkap	T	A	1: 83,258,288 (GRCm39)	I152F	probably damaging	Het
Tecpr1	T	C	5: 144,153,117 (GRCm39)	E204G	possibly damaging	Het
Tiam1	A	T	16: 89,662,145 (GRCm39)	S658T	probably damaging	Het
Tmem174	G	T	13: 98,773,433 (GRCm39)	H132Q	probably damaging	Het
Tnfrsf10b	G	A	14: 70,012,543 (GRCm39)	V117I	probably benign	Het
Tnr	A	G	1: 159,713,728 (GRCm39)	T719A	probably benign	Het
Tomm34	G	A	2: 163,896,379 (GRCm39)	P292S	probably damaging	Het
Trav15-1-dv6-1	T	A	14: 53,797,615 (GRCm39)	F88Y	probably damaging	Het
Trp63	A	T	16: 25,639,226 (GRCm39)	H138L	probably damaging	Het
U2af2	T	A	7: 5,065,290 (GRCm39)	S2T	probably damaging	Het
Uroc1	T	C	6: 90,334,510 (GRCm39)	V574A	possibly damaging	Het
Zc3h7b	G	A	15: 81,656,681 (GRCm39)	R166Q	probably benign	Het
Zfp488	A	C	14: 33,692,760 (GRCm39)	S134R	probably benign	Het
Zfp950	T	C	19: 61,116,001 (GRCm39)	D2G	probably benign	Het
Zp1	T	G	19: 10,893,888 (GRCm39)	D439A	probably damaging	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
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
R8948:Zfyve1	UTSW	12	83,594,802 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCTCAGAAGTGACGGTCAGAG -3'
(R):5'- AAGCTTGGGTCTTGACAGAGATG -3'

Sequencing Primer
(F):5'- TATTCAGTGGGTGCACTCTCGC -3'
(R):5'- GGAACCCGCCTTCAGGAATTTG -3'

Posted On

2021-07-15