Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02040:Zfyve27'

184702

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfyve27

Ensembl Gene

ENSMUSG00000018820

Gene Name

zinc finger, FYVE domain containing 27

Synonyms

9530077C24Rik, 2210011N02Rik, protrudin

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

IGL02040

Quality Score

Status

Chromosome

Chromosomal Location

42159006-42183032 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 42167830 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 124 (R124Q)

Ref Sequence

ENSEMBL: ENSMUSP00000130684 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099443] [ENSMUST00000168130] [ENSMUST00000169536]

AlphaFold

Q3TXX3

Predicted Effect

probably damaging
Transcript: ENSMUST00000099443
AA Change: R124Q

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

SMART Domains

Protein: ENSMUSP00000097042
Gene: ENSMUSG00000018820
AA Change: R124Q

Domain	Start	End	E-Value	Type
transmembrane domain	63	85	N/A	INTRINSIC
transmembrane domain	90	109	N/A	INTRINSIC
transmembrane domain	190	212	N/A	INTRINSIC
low complexity region	280	300	N/A	INTRINSIC
FYVE	335	408	2.52e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164455

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165783

Predicted Effect

probably damaging
Transcript: ENSMUST00000168130
AA Change: R30Q

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

SMART Domains

Protein: ENSMUSP00000129561
Gene: ENSMUSG00000018820
AA Change: R30Q

Domain	Start	End	E-Value	Type
transmembrane domain	96	118	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000169536
AA Change: R124Q

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

SMART Domains

Protein: ENSMUSP00000130684
Gene: ENSMUSG00000018820
AA Change: R124Q

Domain	Start	End	E-Value	Type
transmembrane domain	63	85	N/A	INTRINSIC
transmembrane domain	90	109	N/A	INTRINSIC
transmembrane domain	190	212	N/A	INTRINSIC
low complexity region	280	290	N/A	INTRINSIC
FYVE	342	415	2.52e-4	SMART

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 a protein with several transmembrane domains, a Rab11-binding domain and a lipid-binding FYVE finger domain. The encoded protein appears to promote neurite formation. A mutation in this gene has been reported to be associated with hereditary spastic paraplegia, however the pathogenicity of the mutation, which may simply represent a polymorphism, is unclear. [provided by RefSeq, Mar 2010]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	T	G	5: 3,630,405 (GRCm39)	F107C	probably damaging	Het
4930590J08Rik	T	C	6: 91,895,091 (GRCm39)	V262A	probably benign	Het
A830018L16Rik	T	A	1: 12,003,822 (GRCm39)		probably benign	Het
Adgrb1	T	C	15: 74,413,424 (GRCm39)	V536A	possibly damaging	Het
Ano6	T	G	15: 95,853,825 (GRCm39)	I667R	probably benign	Het
Ap3b1	T	A	13: 94,545,353 (GRCm39)		probably null	Het
Azin2	G	T	4: 128,844,451 (GRCm39)	L37M	possibly damaging	Het
Caap1	A	G	4: 94,438,667 (GRCm39)	I174T	probably damaging	Het
Cacna1h	A	G	17: 25,616,585 (GRCm39)	V46A	probably benign	Het
Chrna6	T	C	8: 27,897,289 (GRCm39)	D196G	probably damaging	Het
Col19a1	A	G	1: 24,351,126 (GRCm39)		probably null	Het
Defb22	G	T	2: 152,331,976 (GRCm39)	T19K	possibly damaging	Het
Dhx36	T	C	3: 62,408,436 (GRCm39)	D134G	probably benign	Het
Dync1h1	A	G	12: 110,603,558 (GRCm39)	I2211V	probably benign	Het
Ecel1	A	C	1: 87,082,645 (GRCm39)	C23G	probably benign	Het
Elmod2	A	G	8: 84,048,126 (GRCm39)	V112A	probably damaging	Het
Enpp1	T	C	10: 24,531,754 (GRCm39)	K510E	probably damaging	Het
Erbb4	A	T	1: 68,081,694 (GRCm39)	S1113R	probably damaging	Het
Esf1	A	T	2: 139,971,181 (GRCm39)	D653E	possibly damaging	Het
Exd1	A	G	2: 119,370,546 (GRCm39)	V54A	possibly damaging	Het
Fam227b	A	T	2: 125,963,004 (GRCm39)		probably benign	Het
Fnbp1l	A	G	3: 122,364,602 (GRCm39)		probably benign	Het
Foxf1	A	G	8: 121,812,084 (GRCm39)	N316S	probably damaging	Het
Gpaa1	T	C	15: 76,218,495 (GRCm39)	V426A	probably benign	Het
Gpc2	A	G	5: 138,274,844 (GRCm39)		probably null	Het
Hnrnpab	A	G	11: 51,492,622 (GRCm39)		probably benign	Het
Hsf4	T	G	8: 106,002,299 (GRCm39)		probably benign	Het
Inpp4a	G	T	1: 37,435,166 (GRCm39)	R179L	probably damaging	Het
Jakmip2	T	A	18: 43,704,919 (GRCm39)	M361L	probably benign	Het
Kif15	A	C	9: 122,846,450 (GRCm39)	Y117S	probably damaging	Het
Lnpep	T	C	17: 17,765,167 (GRCm39)	H761R	probably benign	Het
Masp2	G	T	4: 148,688,270 (GRCm39)	C180F	probably damaging	Het
Mical2	A	G	7: 111,910,613 (GRCm39)	E261G	probably damaging	Het
Mtmr7	T	C	8: 41,013,926 (GRCm39)	I211V	probably benign	Het
Nsd2	T	C	5: 34,024,915 (GRCm39)		probably benign	Het
Or4c121	A	G	2: 89,023,907 (GRCm39)	I157T	probably benign	Het
Or51q1c	A	G	7: 103,652,614 (GRCm39)	N44S	probably damaging	Het
Or8d1b	T	C	9: 38,887,910 (GRCm39)		probably benign	Het
Or8j3c	A	G	2: 86,253,336 (GRCm39)	I228T	probably damaging	Het
Oxct1	G	A	15: 4,056,250 (GRCm39)		probably benign	Het
Pira13	A	G	7: 3,824,516 (GRCm39)		probably benign	Het
Plbd2	C	T	5: 120,625,507 (GRCm39)	S430N	probably damaging	Het
Postn	A	G	3: 54,270,110 (GRCm39)	K63R	probably benign	Het
Pramel19	G	A	4: 101,798,331 (GRCm39)	V101I	possibly damaging	Het
Proc	A	T	18: 32,267,913 (GRCm39)	V75E	probably benign	Het
Ptprt	T	C	2: 162,079,992 (GRCm39)	Y269C	probably damaging	Het
Rcc2	T	C	4: 140,447,902 (GRCm39)	V476A	possibly damaging	Het
Recql5	A	G	11: 115,823,623 (GRCm39)	V41A	possibly damaging	Het
Ros1	T	A	10: 51,992,018 (GRCm39)	I1402F	probably damaging	Het
Rpgrip1	C	T	14: 52,358,476 (GRCm39)	T194I	possibly damaging	Het
Scin	T	C	12: 40,119,452 (GRCm39)		probably benign	Het
Skint4	T	C	4: 112,003,679 (GRCm39)		probably benign	Het
Sptan1	T	A	2: 29,903,725 (GRCm39)	S1545T	probably benign	Het
Tpra1	A	T	6: 88,887,164 (GRCm39)	H168L	possibly damaging	Het
Trim47	T	C	11: 115,998,734 (GRCm39)	E295G	probably damaging	Het
Ttc28	T	A	5: 111,040,802 (GRCm39)	C63*	probably null	Het
Usp45	G	A	4: 21,830,433 (GRCm39)	R696H	probably benign	Het

Other mutations in Zfyve27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00485:Zfyve27	APN	19	42,171,872 (GRCm39)	missense	probably benign
IGL02048:Zfyve27	APN	19	42,174,296 (GRCm39)	missense	probably damaging	0.99
IGL02135:Zfyve27	APN	19	42,172,575 (GRCm39)	missense	probably damaging	1.00
Forgotten	UTSW	19	42,178,016 (GRCm39)	missense	probably damaging	1.00
ignored	UTSW	19	42,160,170 (GRCm39)	missense	probably benign	0.01
overlooked	UTSW	19	42,171,096 (GRCm39)	critical splice acceptor site	probably null
R0388:Zfyve27	UTSW	19	42,178,024 (GRCm39)	missense	probably damaging	1.00
R1589:Zfyve27	UTSW	19	42,160,184 (GRCm39)	critical splice donor site	probably null
R1908:Zfyve27	UTSW	19	42,159,987 (GRCm39)	start codon destroyed	probably null	1.00
R2151:Zfyve27	UTSW	19	42,160,170 (GRCm39)	missense	probably benign	0.01
R2204:Zfyve27	UTSW	19	42,171,885 (GRCm39)	missense	probably damaging	1.00
R2205:Zfyve27	UTSW	19	42,171,885 (GRCm39)	missense	probably damaging	1.00
R5800:Zfyve27	UTSW	19	42,171,102 (GRCm39)	missense	probably damaging	1.00
R5819:Zfyve27	UTSW	19	42,171,935 (GRCm39)	missense	probably benign	0.00
R5870:Zfyve27	UTSW	19	42,160,110 (GRCm39)	missense	probably benign	0.01
R5959:Zfyve27	UTSW	19	42,167,887 (GRCm39)	missense	unknown
R6217:Zfyve27	UTSW	19	42,178,016 (GRCm39)	missense	probably damaging	1.00
R6281:Zfyve27	UTSW	19	42,171,194 (GRCm39)	missense	probably damaging	1.00
R6337:Zfyve27	UTSW	19	42,171,096 (GRCm39)	critical splice acceptor site	probably null
R6638:Zfyve27	UTSW	19	42,169,936 (GRCm39)	splice site	probably null
R7438:Zfyve27	UTSW	19	42,177,959 (GRCm39)	critical splice acceptor site	probably null
R8350:Zfyve27	UTSW	19	42,167,911 (GRCm39)	missense	probably benign	0.34
R9175:Zfyve27	UTSW	19	42,169,997 (GRCm39)	missense	probably damaging	1.00
R9652:Zfyve27	UTSW	19	42,165,856 (GRCm39)	missense	possibly damaging	0.90

Posted On

2014-05-07