Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00753:Zfyve16'

15025

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfyve16

Ensembl Gene

ENSMUSG00000021706

Gene Name

zinc finger, FYVE domain containing 16

Synonyms

B130024H06Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.222) question?

Stock #

IGL00753

Quality Score

Status

Chromosome

Chromosomal Location

92624257-92667318 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 92657626 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 762 (K762*)

Ref Sequence

ENSEMBL: ENSMUSP00000022217 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022217]

AlphaFold

Q80U44

Predicted Effect

probably null
Transcript: ENSMUST00000022217
AA Change: K762*

SMART Domains

Protein: ENSMUSP00000022217
Gene: ENSMUSG00000021706
AA Change: K762*

Domain	Start	End	E-Value	Type
low complexity region	163	175	N/A	INTRINSIC
low complexity region	367	381	N/A	INTRINSIC
low complexity region	438	449	N/A	INTRINSIC
low complexity region	455	484	N/A	INTRINSIC
low complexity region	569	580	N/A	INTRINSIC
FYVE	727	794	7.25e-31	SMART
low complexity region	821	838	N/A	INTRINSIC
low complexity region	1002	1014	N/A	INTRINSIC
low complexity region	1050	1063	N/A	INTRINSIC
Pfam:DUF3480	1155	1503	3.3e-169	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154850

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156586

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an endosomal protein that belongs to the FYVE zinc finger family of proteins. The encoded protein is thought to regulate membrane trafficking in the endosome. This protein functions as a scaffold protein in the transforming growth factor-beta signaling pathway and is involved in positive and negative feedback regulation of the bone morphogenetic protein signaling pathway. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atad5	C	A	11: 80,023,684 (GRCm39)	Q1596K	probably benign	Het
Bcl9l	C	A	9: 44,416,924 (GRCm39)	T254K	possibly damaging	Het
Cgas	G	A	9: 78,342,770 (GRCm39)	P344L	probably damaging	Het
Csmd3	A	G	15: 47,507,631 (GRCm39)	Y2961H	probably damaging	Het
Dop1b	A	G	16: 93,566,512 (GRCm39)	T980A	probably benign	Het
Gdpd3	C	A	7: 126,366,598 (GRCm39)	Y118*	probably null	Het
Ift140	T	A	17: 25,274,618 (GRCm39)	F763L	probably damaging	Het
Igfn1	G	T	1: 135,894,464 (GRCm39)	P2034H	probably damaging	Het
Msantd2	T	C	9: 37,434,845 (GRCm39)		probably benign	Het
Myo18a	T	C	11: 77,715,977 (GRCm39)	S864P	probably damaging	Het
Plbd1	A	C	6: 136,611,468 (GRCm39)	Y270D	probably benign	Het
Plcl1	T	C	1: 55,735,897 (GRCm39)	S413P	probably damaging	Het
Scn2a	A	G	2: 65,514,207 (GRCm39)	N297S	possibly damaging	Het
Tbc1d17	T	C	7: 44,492,509 (GRCm39)	T385A	probably benign	Het
Thsd7a	C	T	6: 12,327,528 (GRCm39)	C1448Y	probably damaging	Het
Tnpo3	T	A	6: 29,565,786 (GRCm39)	I523F	probably benign	Het
Vps13b	C	T	15: 35,372,177 (GRCm39)	S24L	probably damaging	Het
Wdr37	G	A	13: 8,911,210 (GRCm39)	R18C	probably damaging	Het
Zmym2	T	A	14: 57,194,517 (GRCm39)	C1258*	probably null	Het
Zswim5	T	C	4: 116,842,933 (GRCm39)	W893R	possibly damaging	Het

Other mutations in Zfyve16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00481:Zfyve16	APN	13	92,653,046 (GRCm39)	missense	possibly damaging	0.56
IGL00737:Zfyve16	APN	13	92,657,626 (GRCm39)	nonsense	probably null
IGL00741:Zfyve16	APN	13	92,660,761 (GRCm39)	missense	probably damaging	1.00
IGL01123:Zfyve16	APN	13	92,629,030 (GRCm39)	missense	probably damaging	1.00
IGL01149:Zfyve16	APN	13	92,644,791 (GRCm39)	missense	probably damaging	1.00
IGL01414:Zfyve16	APN	13	92,658,704 (GRCm39)	missense	probably benign	0.04
IGL01771:Zfyve16	APN	13	92,658,680 (GRCm39)	missense	probably benign	0.38
IGL01889:Zfyve16	APN	13	92,659,077 (GRCm39)	missense	possibly damaging	0.87
IGL01928:Zfyve16	APN	13	92,641,006 (GRCm39)	missense	probably damaging	0.97
IGL02524:Zfyve16	APN	13	92,641,022 (GRCm39)	missense	probably benign	0.19
IGL03102:Zfyve16	APN	13	92,648,325 (GRCm39)	missense	possibly damaging	0.57
IGL03192:Zfyve16	APN	13	92,657,748 (GRCm39)	missense	possibly damaging	0.94
PIT4151001:Zfyve16	UTSW	13	92,657,712 (GRCm39)	missense	probably damaging	0.99
R0321:Zfyve16	UTSW	13	92,629,042 (GRCm39)	missense	probably damaging	0.99
R0548:Zfyve16	UTSW	13	92,631,452 (GRCm39)	missense	probably benign	0.00
R0555:Zfyve16	UTSW	13	92,653,028 (GRCm39)	splice site	probably benign
R0616:Zfyve16	UTSW	13	92,657,637 (GRCm39)	missense	probably damaging	1.00
R0727:Zfyve16	UTSW	13	92,630,386 (GRCm39)	missense	possibly damaging	0.81
R0730:Zfyve16	UTSW	13	92,657,985 (GRCm39)	missense	probably damaging	0.98
R1221:Zfyve16	UTSW	13	92,644,813 (GRCm39)	missense	possibly damaging	0.87
R1297:Zfyve16	UTSW	13	92,658,840 (GRCm39)	missense	probably benign	0.41
R1597:Zfyve16	UTSW	13	92,644,755 (GRCm39)	missense	probably benign	0.02
R1635:Zfyve16	UTSW	13	92,645,528 (GRCm39)	missense	probably damaging	1.00
R1803:Zfyve16	UTSW	13	92,640,593 (GRCm39)	missense	probably damaging	1.00
R1840:Zfyve16	UTSW	13	92,648,033 (GRCm39)	missense	possibly damaging	0.79
R1962:Zfyve16	UTSW	13	92,659,252 (GRCm39)	missense	possibly damaging	0.74
R2029:Zfyve16	UTSW	13	92,640,985 (GRCm39)	missense	probably damaging	0.98
R2083:Zfyve16	UTSW	13	92,660,770 (GRCm39)	missense	probably damaging	1.00
R2122:Zfyve16	UTSW	13	92,655,991 (GRCm39)	nonsense	probably null
R2173:Zfyve16	UTSW	13	92,631,596 (GRCm39)	missense	probably damaging	0.99
R3822:Zfyve16	UTSW	13	92,657,769 (GRCm39)	missense	probably damaging	1.00
R3857:Zfyve16	UTSW	13	92,631,479 (GRCm39)	missense	probably damaging	1.00
R4043:Zfyve16	UTSW	13	92,650,271 (GRCm39)	splice site	probably null
R4056:Zfyve16	UTSW	13	92,641,057 (GRCm39)	missense	probably damaging	1.00
R4495:Zfyve16	UTSW	13	92,625,075 (GRCm39)	missense	probably benign	0.25
R4518:Zfyve16	UTSW	13	92,657,820 (GRCm39)	missense	possibly damaging	0.86
R4835:Zfyve16	UTSW	13	92,658,693 (GRCm39)	missense	probably benign	0.18
R4862:Zfyve16	UTSW	13	92,644,764 (GRCm39)	missense	probably damaging	1.00
R4962:Zfyve16	UTSW	13	92,650,402 (GRCm39)	missense	probably damaging	1.00
R5117:Zfyve16	UTSW	13	92,642,197 (GRCm39)	missense	possibly damaging	0.95
R5344:Zfyve16	UTSW	13	92,658,096 (GRCm39)	missense	possibly damaging	0.79
R5358:Zfyve16	UTSW	13	92,644,771 (GRCm39)	missense	probably benign	0.04
R5407:Zfyve16	UTSW	13	92,636,792 (GRCm39)	missense	probably damaging	1.00
R5410:Zfyve16	UTSW	13	92,657,739 (GRCm39)	missense	probably benign	0.08
R5704:Zfyve16	UTSW	13	92,640,979 (GRCm39)	splice site	probably null
R5731:Zfyve16	UTSW	13	92,644,701 (GRCm39)	missense	probably benign	0.11
R5808:Zfyve16	UTSW	13	92,631,563 (GRCm39)	nonsense	probably null
R5828:Zfyve16	UTSW	13	92,650,410 (GRCm39)	missense	probably damaging	1.00
R5928:Zfyve16	UTSW	13	92,658,625 (GRCm39)	missense	probably benign	0.01
R6044:Zfyve16	UTSW	13	92,659,174 (GRCm39)	nonsense	probably null
R6141:Zfyve16	UTSW	13	92,648,105 (GRCm39)	missense	probably benign	0.00
R6538:Zfyve16	UTSW	13	92,641,024 (GRCm39)	missense	probably damaging	1.00
R6594:Zfyve16	UTSW	13	92,650,326 (GRCm39)	missense	probably benign	0.23
R6767:Zfyve16	UTSW	13	92,644,707 (GRCm39)	missense	probably damaging	1.00
R6942:Zfyve16	UTSW	13	92,653,139 (GRCm39)	missense	probably benign
R7011:Zfyve16	UTSW	13	92,658,495 (GRCm39)	missense	probably benign	0.00
R7381:Zfyve16	UTSW	13	92,657,654 (GRCm39)	missense	probably damaging	1.00
R7531:Zfyve16	UTSW	13	92,659,473 (GRCm39)	missense	probably damaging	1.00
R7617:Zfyve16	UTSW	13	92,641,070 (GRCm39)	missense	probably damaging	1.00
R7831:Zfyve16	UTSW	13	92,658,836 (GRCm39)	missense	probably benign	0.05
R8127:Zfyve16	UTSW	13	92,642,185 (GRCm39)	missense	probably damaging	1.00
R8382:Zfyve16	UTSW	13	92,650,328 (GRCm39)	missense	probably benign
R8467:Zfyve16	UTSW	13	92,644,790 (GRCm39)	missense	probably damaging	1.00
R8765:Zfyve16	UTSW	13	92,658,055 (GRCm39)	missense	probably benign	0.15
R8792:Zfyve16	UTSW	13	92,659,669 (GRCm39)	missense	probably benign	0.08
R9112:Zfyve16	UTSW	13	92,659,563 (GRCm39)	missense	possibly damaging	0.75
R9169:Zfyve16	UTSW	13	92,657,871 (GRCm39)	missense	probably damaging	1.00
R9599:Zfyve16	UTSW	13	92,636,763 (GRCm39)	missense	probably damaging	1.00
R9608:Zfyve16	UTSW	13	92,636,788 (GRCm39)	missense	probably damaging	1.00
R9636:Zfyve16	UTSW	13	92,631,456 (GRCm39)	missense	probably benign	0.17
R9669:Zfyve16	UTSW	13	92,656,007 (GRCm39)	missense	probably damaging	0.99
R9685:Zfyve16	UTSW	13	92,659,311 (GRCm39)	missense	possibly damaging	0.75
Z1176:Zfyve16	UTSW	13	92,629,171 (GRCm39)	missense	possibly damaging	0.95
Z1177:Zfyve16	UTSW	13	92,659,504 (GRCm39)	missense	possibly damaging	0.87

Posted On

2012-12-06