Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01771:Zfyve16'

153837

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: 0.200) question?

Stock #

IGL01771

Quality Score

Status

Chromosome

Chromosomal Location

92624257-92667318 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92658680 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 410 (I410M)

Ref Sequence

ENSEMBL: ENSMUSP00000022217 (fasta)

Gene Model

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

AlphaFold

Q80U44

Predicted Effect

probably benign
Transcript: ENSMUST00000022217
AA Change: I410M

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000022217
Gene: ENSMUSG00000021706
AA Change: I410M

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

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
Capn10	T	A	1: 92,868,087 (GRCm39)	W185R	probably damaging	Het
Frmd8	A	G	19: 5,919,603 (GRCm39)	L148P	probably damaging	Het
Gk5	T	C	9: 96,059,488 (GRCm39)	C447R	probably damaging	Het
Hip1r	T	A	5: 124,137,606 (GRCm39)	V704D	possibly damaging	Het
Kcnj10	C	A	1: 172,197,150 (GRCm39)	H221Q	probably benign	Het
Klk1b8	A	T	7: 43,604,290 (GRCm39)	I253L	probably damaging	Het
Or10aa4-ps1	T	C	1: 173,878,887 (GRCm39)		probably benign	Het
Or1ad8	A	G	11: 50,898,593 (GRCm39)	T265A	probably benign	Het
Or1e29	A	T	11: 73,667,490 (GRCm39)	I221N	probably damaging	Het
Or5ac22	T	C	16: 59,134,891 (GRCm39)	N293S	probably damaging	Het
Or8k40	C	T	2: 86,584,626 (GRCm39)	C152Y	probably benign	Het
Pdp2	A	T	8: 105,320,754 (GRCm39)	Y201F	probably benign	Het
Ppfia1	A	T	7: 144,036,094 (GRCm39)	I1112K	probably benign	Het
Ppwd1	A	G	13: 104,353,624 (GRCm39)	I378T	probably damaging	Het
Rhbdd1	T	A	1: 82,355,313 (GRCm39)	D248E	probably benign	Het
Sec14l5	T	C	16: 4,996,494 (GRCm39)		probably null	Het
Sel1l3	T	G	5: 53,279,183 (GRCm39)	D960A	probably damaging	Het
Slc35f3	T	C	8: 127,115,951 (GRCm39)	Y293H	probably benign	Het
Wwc1	A	G	11: 35,744,185 (GRCm39)		probably null	Het
Zan	T	C	5: 137,391,330 (GRCm39)	N4718S	unknown	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
IGL00753:Zfyve16	APN	13	92,657,626 (GRCm39)	nonsense	probably null
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
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

2014-02-04