Mutagenetix > Incidental Mutations

Incidental Mutation 'R1589:Zfyve27'

177774

Institutional Source

Beutler Lab

Gene Symbol

Zfyve27

Ensembl Gene

ENSMUSG00000018820

Gene Name

zinc finger, FYVE domain containing 27

Synonyms

protrudin, 2210011N02Rik, 9530077C24Rik

MMRRC Submission

039626-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R1589 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42163951-42194590 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 42171745 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000130684 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000099443

SMART Domains

Protein: ENSMUSP00000097042
Gene: ENSMUSG00000018820

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: ENSMUST00000166788

Predicted Effect

probably null
Transcript: ENSMUST00000169536

SMART Domains

Protein: ENSMUSP00000130684
Gene: ENSMUSG00000018820

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

Meta Mutation Damage Score

0.9498

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.8%
20x: 90.8%

Validation Efficiency

97% (89/92)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700008P02Rik	A	G	3: 6,620,441		probably benign	Het
Aadacl2	C	T	3: 60,010,576	T82I	probably benign	Het
Acadl	T	C	1: 66,853,223	N147S	probably benign	Het
Actr3	A	T	1: 125,408,563	M79K	probably damaging	Het
Agbl3	A	G	6: 34,857,517	S874G	possibly damaging	Het
Aoah	A	T	13: 21,002,948	T472S	probably damaging	Het
Asb16	A	T	11: 102,268,995	D58V	probably damaging	Het
B4galt1	T	C	4: 40,823,575	D172G	probably benign	Het
Bax	T	C	7: 45,465,247	N55S	possibly damaging	Het
Bdkrb2	A	G	12: 105,591,859	N120D	possibly damaging	Het
Bicdl1	T	C	5: 115,651,266		probably benign	Het
Cand1	A	G	10: 119,213,566	L425P	probably damaging	Het
Caskin1	G	A	17: 24,505,478		probably null	Het
Cd248	C	T	19: 5,069,932	P603S	probably benign	Het
Cep95	G	T	11: 106,800,104	R143L	probably benign	Het
Clptm1l	G	T	13: 73,614,673		probably null	Het
Cntnap5a	T	C	1: 116,060,200	F154L	possibly damaging	Het
Cyld	A	T	8: 88,709,990	I303F	possibly damaging	Het
Dock2	A	G	11: 34,706,461	S370P	probably damaging	Het
Enah	G	T	1: 181,922,293	T327K	probably damaging	Het
Farp2	A	T	1: 93,579,860	S427C	probably damaging	Het
Fbxw11	C	T	11: 32,733,612	T301M	probably damaging	Het
Foxc2	A	T	8: 121,117,176	T188S	probably benign	Het
Fzd2	A	G	11: 102,606,328	T533A	probably benign	Het
Glb1l2	G	T	9: 26,769,038	S248*	probably null	Het
Glul	A	T	1: 153,905,538		probably benign	Het
Gm28042	A	G	2: 120,041,406	T946A	probably benign	Het
Golga3	T	A	5: 110,181,783	D2E	probably damaging	Het
Grm1	A	T	10: 10,719,967	F639Y	probably benign	Het
Gzmn	A	G	14: 56,165,911	L247P	probably benign	Het
Hgf	T	G	5: 16,613,785	I525R	probably damaging	Het
Hnrnpul2	T	A	19: 8,831,332	D719E	probably benign	Het
Itga10	C	T	3: 96,651,738		probably benign	Het
Itga9	T	C	9: 118,607,117		probably null	Het
Itgb1	T	A	8: 128,705,458	C16S	probably damaging	Het
Itgb1	G	T	8: 128,705,459	C16F	possibly damaging	Het
Kat14	A	G	2: 144,394,100	I251V	probably benign	Het
Kdsr	A	T	1: 106,734,541		probably null	Het
Kif12	T	A	4: 63,166,500	E527V	probably benign	Het
Larp1b	T	C	3: 41,033,474	S44P	probably damaging	Het
Lonp2	T	C	8: 86,673,072		probably benign	Het
Lrp1	C	T	10: 127,605,606	S216N	probably benign	Het
Lrrc19	T	C	4: 94,640,950	S32G	probably benign	Het
Mdm2	G	A	10: 117,690,529	T335M	probably benign	Het
Mettl25	A	G	10: 105,779,632	Y504H	probably damaging	Het
Mill1	T	C	7: 18,245,647	I13T	probably benign	Het
Mmachc	T	A	4: 116,703,524	Q258L	probably benign	Het
Mpdz	T	A	4: 81,421,176	I5L	probably benign	Het
Mrps2	C	T	2: 28,469,488	A119V	probably benign	Het
Mtmr11	A	G	3: 96,168,113	T370A	probably benign	Het
Nmi	T	C	2: 51,958,977	I34V	possibly damaging	Het
Obscn	A	T	11: 59,036,075	M5538K	possibly damaging	Het
Ogdhl	T	C	14: 32,325,865	I24T	probably benign	Het
Olfr1477	C	T	19: 13,502,757	T138M	probably benign	Het
Olfr675	A	G	7: 105,024,560	V140A	probably benign	Het
Olfr703	A	G	7: 106,845,196	Y195C	possibly damaging	Het
Olfr816	A	G	10: 129,911,681	V199A	probably benign	Het
Omp	G	T	7: 98,145,359	D20E	probably benign	Het
Otog	A	G	7: 46,283,908	H1291R	probably benign	Het
Pgbd1	A	G	13: 21,423,292	L244P	probably damaging	Het
Ranbp2	A	G	10: 58,463,986	I481V	probably benign	Het
Rbp3	A	T	14: 33,955,792	I566F	probably damaging	Het
Rsph4a	A	G	10: 33,905,529	D125G	probably benign	Het
Scn11a	A	G	9: 119,769,807	V1219A	probably damaging	Het
Serpine3	G	A	14: 62,674,381	G264D	probably benign	Het
Slc4a10	T	C	2: 62,257,462	F400L	probably damaging	Het
Slco1a4	C	T	6: 141,845,447	V8I	probably benign	Het
Soga1	A	T	2: 157,027,637	M1026K	probably benign	Het
Spen	T	C	4: 141,488,024	D499G	unknown	Het
Stk32c	A	G	7: 139,119,015		probably null	Het
Tars	A	G	15: 11,388,175	V485A	probably benign	Het
Tcerg1l	A	G	7: 138,361,767	L258P	probably damaging	Het
Tmc2	A	T	2: 130,247,960	I622F	probably damaging	Het
Tmem183a	A	T	1: 134,354,706	N220K	probably damaging	Het
Tnni3	T	C	7: 4,520,526	D146G	probably damaging	Het
Trappc11	G	T	8: 47,501,680	D908E	probably damaging	Het
Trappc8	A	G	18: 20,863,551	Y436H	probably damaging	Het
Ttc41	G	A	10: 86,776,390	V1176I	probably benign	Het
Ube2b	A	G	11: 51,997,872	V24A	probably benign	Het
Usp30	T	C	5: 114,112,961	C233R	probably damaging	Het
Vmn1r87	T	A	7: 13,131,776	T195S	possibly damaging	Het
Vmn2r24	T	C	6: 123,806,520		probably benign	Het
Vmn2r81	C	A	10: 79,293,024	T583N	probably damaging	Het
Vwa8	C	T	14: 78,908,230	R116C	probably damaging	Het
Wdr1	C	A	5: 38,529,972	V239L	probably benign	Het
Wdr17	C	T	8: 54,703,907		probably benign	Het
Zfhx4	A	C	3: 5,241,729	D5A	probably 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
R1908:Zfyve27	UTSW	19	42171548	start codon destroyed	probably null	1.00
R2151:Zfyve27	UTSW	19	42171731	missense	probably benign	0.01
R2204:Zfyve27	UTSW	19	42183446	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- GGTATTCGCGTTCACCTCTCACAG -3'
(R):5'- GAAGACCAAGTGGTTCTCAGTTCCC -3'

Sequencing Primer
(F):5'- CGATTACAGAATGCAGACTTCG -3'
(R):5'- CACCTTCCCTGCATAGCG -3'

Posted On

2014-04-24