Mutagenetix > Incidental Mutation

Incidental Mutation 'R8467:Zfyve16'

656887

Institutional Source

Beutler Lab

Gene Symbol

Zfyve16

Ensembl Gene

ENSMUSG00000021706

Gene Name

zinc finger, FYVE domain containing 16

Synonyms

B130024H06Rik

MMRRC Submission

067911-MU

Accession Numbers

Essential gene?

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

Stock #

R8467 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92624257-92667318 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 92644790 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 1137 (H1137Q)

Ref Sequence

ENSEMBL: ENSMUSP00000022217 (fasta)

Gene Model

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

AlphaFold

Q80U44

Predicted Effect

probably damaging
Transcript: ENSMUST00000022217
AA Change: H1137Q

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

SMART Domains

Protein: ENSMUSP00000022217
Gene: ENSMUSG00000021706
AA Change: H1137Q

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

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (38/38)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apon	G	A	10: 128,091,002 (GRCm39)	V227I	probably benign	Het
Arl9	T	C	5: 77,154,446 (GRCm39)	I58T	probably damaging	Het
C4b	T	C	17: 34,951,787 (GRCm39)	T1326A	possibly damaging	Het
Cd55b	A	C	1: 130,347,501 (GRCm39)	S103R	possibly damaging	Het
Cep350	A	G	1: 155,791,321 (GRCm39)	F1268L	probably benign	Het
D17H6S53E	T	A	17: 35,346,246 (GRCm39)	D52E	probably damaging	Het
Dhx57	G	C	17: 80,561,853 (GRCm39)	P887R	probably damaging	Het
Ehd1	T	G	19: 6,331,318 (GRCm39)	S159A	probably benign	Het
Fam98a	C	A	17: 75,851,830 (GRCm39)	G84W	probably damaging	Het
Fbxl22	C	T	9: 66,421,849 (GRCm39)		probably null	Het
Gbp11	T	A	5: 105,475,457 (GRCm39)	Y297F	probably damaging	Het
Gimap8	A	G	6: 48,627,269 (GRCm39)	H81R	probably benign	Het
Gpd2	A	G	2: 57,254,596 (GRCm39)	E680G	possibly damaging	Het
Grid2	A	G	6: 64,510,635 (GRCm39)	D755G	probably benign	Het
Hivep3	T	C	4: 119,952,238 (GRCm39)	Y185H	probably damaging	Het
Hunk	A	G	16: 90,293,508 (GRCm39)	R597G	probably damaging	Het
Igfbp3	A	G	11: 7,163,523 (GRCm39)	C90R	probably damaging	Het
Il7r	T	C	15: 9,512,973 (GRCm39)	T179A	probably benign	Het
Iqsec3	G	A	6: 121,358,676 (GRCm39)	T1003I	probably benign	Het
Kif13b	A	T	14: 64,996,154 (GRCm39)	D980V	probably damaging	Het
Kif21b	A	G	1: 136,100,021 (GRCm39)	D1525G	probably damaging	Het
Lgsn	A	G	1: 31,242,731 (GRCm39)	E271G	probably benign	Het
Lrp1	G	A	10: 127,394,519 (GRCm39)	R2565C	probably damaging	Het
Marchf10	A	T	11: 105,280,979 (GRCm39)	Y435*	probably null	Het
Msantd5	A	G	11: 51,125,105 (GRCm39)	I108V	possibly damaging	Het
Mup9	C	T	4: 60,376,481 (GRCm39)		probably null	Het
Myo6	T	A	9: 80,136,168 (GRCm39)	V97E	probably damaging	Het
Nobox	G	T	6: 43,282,479 (GRCm39)	D309E	probably benign	Het
Nup155	A	G	15: 8,151,015 (GRCm39)	D355G	probably benign	Het
Or6n1	A	T	1: 173,917,007 (GRCm39)	T134S	probably benign	Het
Otud7b	A	G	3: 96,062,993 (GRCm39)	D744G	probably benign	Het
Phgdh	A	G	3: 98,228,627 (GRCm39)	V182A	probably benign	Het
Scarb1	A	T	5: 125,375,731 (GRCm39)	I231N	probably damaging	Het
Scn9a	A	G	2: 66,332,015 (GRCm39)	L1276P	probably damaging	Het
Smarca2	T	A	19: 26,597,121 (GRCm39)	M1K	probably null	Het
Sp3	G	A	2: 72,801,482 (GRCm39)	T177I	possibly damaging	Het
Vmn1r21	A	T	6: 57,821,441 (GRCm39)	M1K	probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- AATGATTTCCCTGAATCCACTGCC -3'
(R):5'- GAACAACAGAGATCTTTGCATTGC -3'

Sequencing Primer
(F):5'- TGAATCCACTGCCTTATCTTCAG -3'
(R):5'- CAGAGATCTTTGCATTGCTTTTAC -3'

Posted On

2021-01-18