Mutagenetix > Incidental Mutation

Incidental Mutation 'R7464:Zfyve1'

578661

Institutional Source

Beutler Lab

Gene Symbol

Zfyve1

Ensembl Gene

ENSMUSG00000042628

Gene Name

zinc finger, FYVE domain containing 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7464 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83546558-83597222 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 83551487 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 656 (D656N)

Ref Sequence

ENSEMBL: ENSMUSP00000042224 (fasta)

Gene Model

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

AlphaFold

Q810J8

Predicted Effect

probably benign
Transcript: ENSMUST00000048319
AA Change: D656N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000042224
Gene: ENSMUSG00000042628
AA Change: D656N

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 benign
Transcript: ENSMUST00000221919
AA Change: D656N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000222448

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (79/82)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	C	T	6: 23,077,153	G736R	possibly damaging	Het
Acta2	G	A	19: 34,252,531	T8I	probably benign	Het
Ankar	A	T	1: 72,698,894	V43E	possibly damaging	Het
Apof	A	G	10: 128,269,636	I220V	probably benign	Het
Asxl1	G	T	2: 153,397,785	A499S	probably benign	Het
Baz2a	T	A	10: 128,122,073	D1069E	possibly damaging	Het
Baz2b	T	C	2: 59,977,448	T156A	possibly damaging	Het
Bbc3	A	T	7: 16,317,157	R169W	unknown	Het
C5ar1	T	A	7: 16,248,766	I110L	probably benign	Het
C87414	C	T	5: 93,636,240	C455Y	probably damaging	Het
Cd19	C	A	7: 126,411,803	R323L	probably damaging	Het
Cdc14b	A	T	13: 64,196,675	C113*	probably null	Het
Cngb1	C	A	8: 95,254,183	W914L	possibly damaging	Het
Colgalt2	A	G	1: 152,504,144	K445E	probably damaging	Het
Crebrf	A	G	17: 26,763,487	M608V	unknown	Het
Csf1	T	A	3: 107,748,875	H280L	probably benign	Het
Cyp2j11	C	A	4: 96,345,120	R113L	probably damaging	Het
D5Ertd579e	G	A	5: 36,613,785	H1089Y	probably damaging	Het
Ddx60	C	T	8: 61,940,674	T48M	possibly damaging	Het
Dock10	T	C	1: 80,540,315	D1315G	probably damaging	Het
Dock2	T	G	11: 34,695,278	N526H	probably damaging	Het
Dram2	T	C	3: 106,573,683	*268Q	probably null	Het
Emc8	A	G	8: 120,667,918	Y21H	possibly damaging	Het
Fam162a	A	G	16: 36,071,493	L4P	probably damaging	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Fbxw10	T	A	11: 62,853,298	I307N	probably benign	Het
Fbxw16	A	G	9: 109,439,551	V257A	possibly damaging	Het
Fer1l6	T	A	15: 58,573,247		probably null	Het
Galnt7	A	G	8: 57,584,020	Y112H	possibly damaging	Het
Gigyf2	T	C	1: 87,428,604	I803T	unknown	Het
Gm10696	A	T	3: 94,176,104	N133K	probably benign	Het
Gm15292	T	A	8: 21,249,894	S45T	probably damaging	Het
Gm28729	A	G	9: 96,521,235	I44T	possibly damaging	Het
Gm5447	A	G	13: 30,974,394	I34V	not run	Het
H2-M9	A	T	17: 36,642,411		probably null	Het
Helz	G	A	11: 107,636,278	C864Y	probably damaging	Het
Il25	A	G	14: 54,933,222	Y84C	probably null	Het
Itga10	T	A	3: 96,648,155	C142S	probably damaging	Het
Kcna10	A	T	3: 107,194,079	M9L	probably damaging	Het
Klhl6	G	T	16: 19,957,113	Q232K	possibly damaging	Het
Mb21d2	T	G	16: 28,929,546	I40L	possibly damaging	Het
Mdm1	T	C	10: 118,152,266	S334P	probably benign	Het
Mllt10	T	A	2: 18,170,279	D549E	probably benign	Het
Mlxipl	T	C	5: 135,133,628	V648A	probably benign	Het
Nars2	A	G	7: 97,039,930	K353R	probably benign	Het
Nav1	T	A	1: 135,584,909	M138L	probably benign	Het
Neb	T	C	2: 52,193,890	T5635A	probably benign	Het
Nktr	A	C	9: 121,750,327	I1154L	unknown	Het
Olfr1284	T	A	2: 111,379,198	L66Q	probably damaging	Het
Olfr47	T	G	6: 43,236,294	S229A	probably damaging	Het
Olfr761	A	T	17: 37,952,280	V248D	probably damaging	Het
Oxld1	T	C	11: 120,457,137	D78G	probably benign	Het
Pde1b	T	C	15: 103,524,829	I255T	probably benign	Het
Pkp4	T	A	2: 59,308,137	F244I	probably benign	Het
Polg2	C	A	11: 106,773,714	V305L	probably benign	Het
Ptpn18	G	A	1: 34,473,364	D417N	possibly damaging	Het
Sash1	T	C	10: 8,756,745	D242G	possibly damaging	Het
Six4	T	C	12: 73,112,530	T219A	possibly damaging	Het
Slc28a3	A	C	13: 58,563,021	Y562*	probably null	Het
Soat1	A	T	1: 156,439,317	W310R	probably damaging	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,656,691		probably benign	Het
Spef2	T	C	15: 9,740,585	N30D	probably benign	Het
Srebf2	T	A	15: 82,172,874	I270N	probably damaging	Het
St8sia3	T	C	18: 64,271,518	W289R	probably damaging	Het
Stx5a	T	A	19: 8,743,504		probably benign	Het
Tacc1	T	C	8: 25,164,464	D689G	probably damaging	Het
Tacc3	A	G	5: 33,661,284	D21G	probably benign	Het
Tapt1	G	A	5: 44,188,688	R307*	probably null	Het
Tbc1d9b	T	A	11: 50,131,485	V16E	probably damaging	Het
Tchhl1	G	A	3: 93,470,664	R225K	probably benign	Het
Thumpd3	G	A	6: 113,055,769	G156D	probably benign	Het
Tmem178	C	T	17: 80,944,902	P72S	probably benign	Het
Tmem52	C	T	4: 155,469,469	P46S	probably benign	Het
Tmem94	G	T	11: 115,786,256	R118L	possibly damaging	Het
Tulp3	A	T	6: 128,326,829	V269D	probably benign	Het
Ubr1	A	G	2: 120,889,774		probably null	Het
Upf1	G	A	8: 70,333,423	S962L	probably benign	Het
Vcpip1	C	T	1: 9,746,520	R546Q	probably damaging	Het
Vmn2r49	A	C	7: 9,988,893	S151R	probably benign	Het
Wac	T	C	18: 7,871,746		probably null	Het
Wrn	C	T	8: 33,335,996		probably null	Het
Zfp286	C	A	11: 62,780,801	D149Y	probably benign	Het
Zfp748	A	G	13: 67,541,972	C390R	probably damaging	Het
Zfp873	A	G	10: 82,060,376	T314A	possibly damaging	Het
Zmym1	T	A	4: 127,058,935	K18*	probably null	Het

Other mutations in Zfyve1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Zfyve1	APN	12	83574798	missense	probably benign	0.09
IGL00475:Zfyve1	APN	12	83555711	critical splice acceptor site	probably null
IGL01291:Zfyve1	APN	12	83555005	missense	probably benign	0.04
IGL01380:Zfyve1	APN	12	83552507	missense	probably damaging	1.00
IGL02037:Zfyve1	APN	12	83547920	missense	probably damaging	1.00
IGL02184:Zfyve1	APN	12	83558693	missense	probably benign	0.29
IGL02619:Zfyve1	APN	12	83550944	unclassified	probably benign
IGL03031:Zfyve1	APN	12	83574821	missense	probably damaging	0.99
IGL03105:Zfyve1	APN	12	83558639	missense	probably damaging	1.00
sasso	UTSW	12	83575056	missense	probably damaging	1.00
ANU05:Zfyve1	UTSW	12	83555005	missense	probably benign	0.04
R0123:Zfyve1	UTSW	12	83555073	splice site	probably benign
R0225:Zfyve1	UTSW	12	83555073	splice site	probably benign
R0468:Zfyve1	UTSW	12	83555274	splice site	probably benign
R1218:Zfyve1	UTSW	12	83548051	missense	possibly damaging	0.79
R1896:Zfyve1	UTSW	12	83555614	missense	probably damaging	0.99
R2291:Zfyve1	UTSW	12	83547931	missense	probably damaging	0.99
R4023:Zfyve1	UTSW	12	83594522	missense	probably benign
R4026:Zfyve1	UTSW	12	83594522	missense	probably benign
R4209:Zfyve1	UTSW	12	83575135	missense	probably damaging	1.00
R4211:Zfyve1	UTSW	12	83575135	missense	probably damaging	1.00
R4780:Zfyve1	UTSW	12	83558647	missense	probably damaging	1.00
R4907:Zfyve1	UTSW	12	83574872	missense	probably damaging	0.96
R4908:Zfyve1	UTSW	12	83551571	missense	probably damaging	1.00
R4998:Zfyve1	UTSW	12	83548065	missense	possibly damaging	0.69
R5076:Zfyve1	UTSW	12	83555647	missense	probably damaging	1.00
R5303:Zfyve1	UTSW	12	83575056	missense	probably damaging	1.00
R5628:Zfyve1	UTSW	12	83574889	missense	probably benign	0.00
R5739:Zfyve1	UTSW	12	83575136	missense	possibly damaging	0.61
R6007:Zfyve1	UTSW	12	83558704	missense	probably damaging	1.00
R6355:Zfyve1	UTSW	12	83594641	missense	probably benign	0.01
R6641:Zfyve1	UTSW	12	83594496	missense	probably benign
R6735:Zfyve1	UTSW	12	83594844	missense	possibly damaging	0.90
R7222:Zfyve1	UTSW	12	83555005	missense	probably benign
R7278:Zfyve1	UTSW	12	83551540	missense	probably damaging	1.00
R8690:Zfyve1	UTSW	12	83550907	missense	probably damaging	1.00
R8857:Zfyve1	UTSW	12	83551600	missense	probably damaging	1.00
R8948:Zfyve1	UTSW	12	83548028	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCCAGGCCACGTTTAATCAATC -3'
(R):5'- TTTGGACTTGGAACAGAGCTG -3'

Sequencing Primer
(F):5'- GGCCACGTTTAATCAATCAATCCTG -3'
(R):5'- TGCAACCAGTGTGCGACATC -3'

Posted On

2019-10-07