Mutagenetix > Incidental Mutation

Incidental Mutation 'R6217:Zfyve27'

503813

Institutional Source

Beutler Lab

Gene Symbol

Zfyve27

Ensembl Gene

ENSMUSG00000018820

Gene Name

zinc finger, FYVE domain containing 27

Synonyms

9530077C24Rik, 2210011N02Rik, protrudin

MMRRC Submission

044350-MU

Accession Numbers

Essential gene?

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

Stock #

R6217 (G1)

Quality Score

210.009

Status

Validated

Chromosome

Chromosomal Location

42159006-42183032 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 42178016 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 386 (V386A)

Ref Sequence

ENSEMBL: ENSMUSP00000130684 (fasta)

Gene Model

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

AlphaFold

Q3TXX3

Predicted Effect

probably damaging
Transcript: ENSMUST00000099443
AA Change: V379A

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

SMART Domains

Protein: ENSMUSP00000097042
Gene: ENSMUSG00000018820
AA Change: V379A

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: ENSMUST00000169536
AA Change: V386A

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

SMART Domains

Protein: ENSMUSP00000130684
Gene: ENSMUSG00000018820
AA Change: V386A

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

Meta Mutation Damage Score

0.4667

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

97% (59/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abraxas2	G	A	7: 132,476,694 (GRCm39)	A145T	probably damaging	Het
Adamts20	T	C	15: 94,236,596 (GRCm39)	D808G	probably benign	Het
Ankdd1a	C	T	9: 65,415,343 (GRCm39)	A227T	possibly damaging	Het
Arsk	T	A	13: 76,239,935 (GRCm39)	Q46L	unknown	Het
Asnsd1	A	G	1: 53,387,187 (GRCm39)	F147L	probably benign	Het
Atp5f1a	T	A	18: 77,869,056 (GRCm39)	S427T	probably benign	Het
Atp6v1b2	A	C	8: 69,562,530 (GRCm39)		probably null	Het
AU021092	T	A	16: 5,030,050 (GRCm39)	T322S	possibly damaging	Het
Bcl7c	A	T	7: 127,307,698 (GRCm39)	M1K	probably null	Het
Cacna1i	T	C	15: 80,273,333 (GRCm39)	V1673A	probably damaging	Het
Ccdc146	A	T	5: 21,522,900 (GRCm39)		probably null	Het
Cdc7	A	G	5: 107,120,660 (GRCm39)	D122G	probably damaging	Het
Cfap46	CCTTCTTCT	CCTTCT	7: 139,218,816 (GRCm39)		probably benign	Het
Chd3	T	A	11: 69,236,361 (GRCm39)	Q1950L	probably damaging	Het
Cutc	T	C	19: 43,748,436 (GRCm39)	L111S	probably damaging	Het
Cyp2j6	A	G	4: 96,406,398 (GRCm39)	F458L	probably damaging	Het
Ddhd1	T	C	14: 45,856,971 (GRCm39)		probably null	Het
Dstyk	T	C	1: 132,387,677 (GRCm39)	S804P	probably damaging	Het
Ech1	A	G	7: 28,531,261 (GRCm39)	D283G	possibly damaging	Het
Exosc10	A	G	4: 148,666,768 (GRCm39)		probably null	Het
Fancg	A	C	4: 43,010,084 (GRCm39)	V5G	probably benign	Het
Fbxo11	A	G	17: 88,316,332 (GRCm39)	V394A	probably benign	Het
Fcmr	C	T	1: 130,806,060 (GRCm39)	R339W	probably damaging	Het
Fhip2b	T	C	14: 70,829,198 (GRCm39)		probably null	Het
Fsip2	T	A	2: 82,818,762 (GRCm39)	L4832M	possibly damaging	Het
Gab1	A	G	8: 81,518,237 (GRCm39)	V125A	possibly damaging	Het
Gabrr1	A	T	4: 33,149,026 (GRCm39)		probably null	Het
Gon4l	T	C	3: 88,799,968 (GRCm39)	V871A	possibly damaging	Het
Hspg2	A	G	4: 137,267,559 (GRCm39)	T2056A	probably damaging	Het
Lrrc3	T	A	10: 77,736,843 (GRCm39)	T198S	probably benign	Het
Lsamp	A	T	16: 41,954,675 (GRCm39)	E174V	possibly damaging	Het
Ltbr	C	T	6: 125,284,417 (GRCm39)	V342M	probably damaging	Het
Muc16	A	T	9: 18,566,742 (GRCm39)	S1926T	unknown	Het
Ntn1	C	A	11: 68,104,158 (GRCm39)	V497F	possibly damaging	Het
Or2ag18	A	T	7: 106,405,279 (GRCm39)	L130Q	probably damaging	Het
Or5k17	T	C	16: 58,746,877 (GRCm39)	D19G	probably benign	Het
Or8g22	A	T	9: 38,958,039 (GRCm39)	*270R	probably null	Het
Osmr	T	C	15: 6,853,047 (GRCm39)	Y615C	probably damaging	Het
Pcdhgb2	T	C	18: 37,823,054 (GRCm39)	V15A	possibly damaging	Het
Pkd2l2	A	G	18: 34,547,733 (GRCm39)	N162S	probably benign	Het
Ppp1r12a	G	A	10: 108,076,045 (GRCm39)		probably null	Het
Prss59	G	A	6: 40,903,019 (GRCm39)	P118S	possibly damaging	Het
Prtg	C	T	9: 72,812,076 (GRCm39)	P899S	probably damaging	Het
Ptprn	A	T	1: 75,224,810 (GRCm39)	S912R	probably damaging	Het
Rex2	A	G	4: 147,141,931 (GRCm39)	T140A	possibly damaging	Het
Ryr2	T	G	13: 11,848,964 (GRCm39)	D339A	probably damaging	Het
Sf3b1	C	T	1: 55,046,677 (GRCm39)	R289H	probably damaging	Het
Slc17a9	A	G	2: 180,379,455 (GRCm39)	D309G	probably benign	Het
Slc4a10	A	G	2: 62,134,295 (GRCm39)	R1004G	probably benign	Het
Sprr2f	A	T	3: 92,273,366 (GRCm39)	Q55L	unknown	Het
Syne1	C	T	10: 5,243,761 (GRCm39)	G2801D	probably benign	Het
Tenm3	A	T	8: 48,746,700 (GRCm39)	V1026D	probably damaging	Het
Ticam1	A	T	17: 56,577,730 (GRCm39)	I455N	probably damaging	Het
Tmem161b	A	G	13: 84,399,363 (GRCm39)	I6M	possibly damaging	Het
Ubn1	A	G	16: 4,895,096 (GRCm39)	E714G	probably damaging	Het
Ush2a	T	G	1: 188,475,651 (GRCm39)		probably null	Het
Usp19	G	A	9: 108,377,343 (GRCm39)	V874M	probably damaging	Het
Vmn2r106	T	C	17: 20,488,501 (GRCm39)	T633A	probably benign	Het
Vmn2r75	A	T	7: 85,815,375 (GRCm39)		probably benign	Het
Zscan20	A	T	4: 128,498,327 (GRCm39)	W24R	probably damaging	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
IGL02040:Zfyve27	APN	19	42,167,830 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- GTGCCCTCTGTTTGCTAAGG -3'
(R):5'- TCTGTTAAAAGTGGACCTGGGG -3'

Sequencing Primer
(F):5'- GTTTGCTAAGGCCCACACC -3'
(R):5'- CCTGGGGTAATGAAATAAGATTCAAC -3'

Posted On

2018-02-27