Mutagenetix > Incidental Mutations

Incidental Mutation 'R2204:Zfyve27'

238941

Institutional Source

Beutler Lab

Gene Symbol

Zfyve27

Ensembl Gene

ENSMUSG00000018820

Gene Name

zinc finger, FYVE domain containing 27

Synonyms

protrudin, 2210011N02Rik, 9530077C24Rik

MMRRC Submission

040206-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R2204 (G1)

Quality Score

185

Status

Not validated

Chromosome

Chromosomal Location

42163951-42194590 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 42183446 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 139 (A139D)

Ref Sequence

ENSEMBL: ENSMUSP00000129561 (fasta)

Gene Model

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

AlphaFold

Q3TXX3

Predicted Effect

probably damaging
Transcript: ENSMUST00000099443
AA Change: A233D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097042
Gene: ENSMUSG00000018820
AA Change: A233D

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: ENSMUST00000164460

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165783

Predicted Effect

probably damaging
Transcript: ENSMUST00000168130
AA Change: A139D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000129561
Gene: ENSMUSG00000018820
AA Change: A139D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000169536
AA Change: A233D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000130684
Gene: ENSMUSG00000018820
AA Change: A233D

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170184

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	C	T	3: 108,475,043	G270E	probably damaging	Het
A630076J17Rik	A	G	3: 107,233,627		probably benign	Het
Abca1	G	A	4: 53,090,291	T386I	probably damaging	Het
Acsf3	C	T	8: 122,813,644	S527F	probably damaging	Het
Adamts7	A	T	9: 90,180,676	K394N	probably damaging	Het
Ankrd2	C	A	19: 42,044,119	A273E	probably damaging	Het
Ankrd26	T	A	6: 118,523,882	H876L	possibly damaging	Het
Atg16l1	A	C	1: 87,767,015	Q138P	probably benign	Het
Bap1	T	C	14: 31,256,701	V23A	probably benign	Het
C87499	A	T	4: 88,628,118	L329Q	probably damaging	Het
Cartpt	A	T	13: 99,900,625	S4T	probably benign	Het
Cdan1	C	A	2: 120,720,760	C1093F	probably damaging	Het
Ceacam11	C	T	7: 17,975,348	T157I	possibly damaging	Het
Cfap45	T	C	1: 172,532,161	V76A	probably benign	Het
Chil3	T	C	3: 106,164,246	D34G	probably benign	Het
Chrnb4	G	A	9: 55,043,848	R44C	probably damaging	Het
Col6a4	T	C	9: 106,060,132	D1395G	probably damaging	Het
Cpa1	A	G	6: 30,641,819	D214G	probably damaging	Het
Cttnbp2	T	G	6: 18,408,694	D976A	probably benign	Het
Espl1	A	G	15: 102,305,905	E693G	probably damaging	Het
Fat1	G	T	8: 45,023,700	A1928S	probably damaging	Het
Fiz1	C	T	7: 5,008,686	E278K	probably benign	Het
Flnc	C	T	6: 29,459,508	P2536S	probably damaging	Het
Gm6370	T	A	5: 146,493,729	D241E	probably benign	Het
Hlcs	T	C	16: 94,231,152	T451A	probably benign	Het
Hmgcr	A	G	13: 96,656,633	L497P	probably damaging	Het
Hmgcs2	T	A	3: 98,291,183	I134N	probably damaging	Het
Ifit1bl1	C	T	19: 34,594,341	E239K	probably benign	Het
Ift52	G	A	2: 163,031,230	S221N	probably benign	Het
Knstrn	T	A	2: 118,830,975		probably null	Het
Map3k14	T	A	11: 103,239,454	K212N	possibly damaging	Het
Ndufb7	A	G	8: 83,570,899	H61R	probably damaging	Het
Nop56	T	A	2: 130,277,568	I51N	probably damaging	Het
Nudt5	A	T	2: 5,855,983	I22F	possibly damaging	Het
Olfr1198	C	G	2: 88,746,609	G93A	probably benign	Het
Olfr418	T	A	1: 173,270,136		probably null	Het
Olfr867	T	C	9: 20,055,211	N84S	possibly damaging	Het
P3h4	G	A	11: 100,414,006	A185V	probably benign	Het
Pdcl	A	T	2: 37,352,044	N231K	probably benign	Het
Plcb4	T	C	2: 136,002,594	I144T	probably benign	Het
Prrc2b	C	A	2: 32,223,464	Q1970K	probably damaging	Het
Robo4	CGG	CG	9: 37,411,490		probably null	Het
Sars2	T	C	7: 28,749,674	V302A	possibly damaging	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Spata31d1d	A	G	13: 59,731,621	C34R	possibly damaging	Het
Speg	A	T	1: 75,430,477	T3137S	probably benign	Het
Ssh3	A	G	19: 4,269,073	L3P	probably damaging	Het
Stard9	GAAA	GAA	2: 120,698,531		probably null	Het
Stoml2	G	T	4: 43,030,243	Y119*	probably null	Het
Susd1	A	G	4: 59,349,843	L531P	possibly damaging	Het
Taco1	C	T	11: 106,071,934	A149V	probably benign	Het
Tenm3	T	C	8: 48,674,550	E31G	probably benign	Het
Tmc1	A	T	19: 20,940,905	L2M	probably benign	Het
Tmem39b	A	C	4: 129,693,923	S32A	probably benign	Het
Tnfsf14	T	C	17: 57,190,638	D198G	possibly damaging	Het
Trabd2b	T	C	4: 114,602,994	L443P	probably damaging	Het
Trip4	T	A	9: 65,864,265	I328F	probably damaging	Het
Trpc3	A	G	3: 36,650,149	F553S	possibly damaging	Het
Tssk2	A	G	16: 17,898,739	D2G	possibly damaging	Het
Ttn	T	C	2: 76,771,641	N18559S	possibly damaging	Het
Vmn1r23	T	C	6: 57,926,619	D58G	probably benign	Het
Zfp651	A	G	9: 121,762,637	T8A	possibly damaging	Het

Other mutations in Zfyve27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00485:Zfyve27	APN	19	42183433	missense	probably benign
IGL02040:Zfyve27	APN	19	42179391	missense	probably damaging	1.00
IGL02048:Zfyve27	APN	19	42185857	missense	probably damaging	0.99
IGL02135:Zfyve27	APN	19	42184136	missense	probably damaging	1.00
Forgotten	UTSW	19	42189577	missense	probably damaging	1.00
ignored	UTSW	19	42171731	missense	probably benign	0.01
overlooked	UTSW	19	42182657	critical splice acceptor site	probably null
R0388:Zfyve27	UTSW	19	42189585	missense	probably damaging	1.00
R1589:Zfyve27	UTSW	19	42171745	critical splice donor site	probably null
R1908:Zfyve27	UTSW	19	42171548	start codon destroyed	probably null	1.00
R2151:Zfyve27	UTSW	19	42171731	missense	probably benign	0.01
R2205:Zfyve27	UTSW	19	42183446	missense	probably damaging	1.00
R5800:Zfyve27	UTSW	19	42182663	missense	probably damaging	1.00
R5819:Zfyve27	UTSW	19	42183496	missense	probably benign	0.00
R5870:Zfyve27	UTSW	19	42171671	missense	probably benign	0.01
R5959:Zfyve27	UTSW	19	42179448	missense	unknown
R6217:Zfyve27	UTSW	19	42189577	missense	probably damaging	1.00
R6281:Zfyve27	UTSW	19	42182755	missense	probably damaging	1.00
R6337:Zfyve27	UTSW	19	42182657	critical splice acceptor site	probably null
R6638:Zfyve27	UTSW	19	42181497	splice site	probably null
R7438:Zfyve27	UTSW	19	42189520	critical splice acceptor site	probably null
R8350:Zfyve27	UTSW	19	42179472	missense	probably benign	0.34
R9175:Zfyve27	UTSW	19	42181558	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCACTGGCCGACTCTTTGTAG -3'
(R):5'- TGTGCCTCATAAACACATCGC -3'

Sequencing Primer
(F):5'- CCGACTCTTTGTAGCCGTGG -3'
(R):5'- TAAACACATCGCTAAGAATAAGAGGG -3'

Posted On

2014-10-02