Mutagenetix > Incidental Mutation

Incidental Mutation 'R5870:Zfyve27'

455168

Institutional Source

Beutler Lab

Gene Symbol

Zfyve27

Ensembl Gene

ENSMUSG00000018820

Gene Name

zinc finger, FYVE domain containing 27

Synonyms

9530077C24Rik, 2210011N02Rik, protrudin

MMRRC Submission

044078-MU

Accession Numbers

Essential gene?

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

Stock #

R5870 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42159006-42183032 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 42160110 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 42 (L42R)

Ref Sequence

ENSEMBL: ENSMUSP00000130684 (fasta)

Gene Model

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

AlphaFold

Q3TXX3

Predicted Effect

probably benign
Transcript: ENSMUST00000099443
AA Change: L42R

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000097042
Gene: ENSMUSG00000018820
AA Change: L42R

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 benign
Transcript: ENSMUST00000169536
AA Change: L42R

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000130684
Gene: ENSMUSG00000018820
AA Change: L42R

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

0.1217

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.2%
20x: 91.1%

Validation Efficiency

93% (84/90)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy9	A	G	16: 4,236,232 (GRCm39)	V156A	probably damaging	Het
Ak6	C	A	13: 100,791,932 (GRCm39)	P125Q	probably damaging	Het
Aqp4	A	C	18: 15,532,946 (GRCm39)	V49G	probably damaging	Het
Arfgef1	A	G	1: 10,251,163 (GRCm39)	I874T	probably damaging	Het
Arid1a	T	C	4: 133,408,387 (GRCm39)	D2040G	unknown	Het
Atp1a3	T	G	7: 24,697,003 (GRCm39)	D220A	probably benign	Het
C2cd4c	A	T	10: 79,448,043 (GRCm39)	I368N	possibly damaging	Het
Ccnt1	G	A	15: 98,441,394 (GRCm39)	Q625*	probably null	Het
Cd177	T	A	7: 24,455,757 (GRCm39)	H255L	probably benign	Het
Cdipt	G	A	7: 126,578,094 (GRCm39)	V114M	probably benign	Het
Coro1b	T	A	19: 4,199,384 (GRCm39)	H14Q	probably damaging	Het
Ctdp1	T	A	18: 80,451,901 (GRCm39)	D158V	unknown	Het
Cts7	A	T	13: 61,503,545 (GRCm39)	S140T	probably damaging	Het
Dlgap3	T	A	4: 127,089,502 (GRCm39)	L366*	probably null	Het
Dnah9	C	T	11: 65,976,036 (GRCm39)	A1338T	probably benign	Het
Dock7	T	C	4: 98,952,199 (GRCm39)	I424V	probably benign	Het
Dock8	G	T	19: 25,109,490 (GRCm39)	A891S	probably benign	Het
Dync2i1	A	G	12: 116,219,865 (GRCm39)	S26P	possibly damaging	Het
Elmod3	A	G	6: 72,571,721 (GRCm39)		probably null	Het
Eps15	G	A	4: 109,218,507 (GRCm39)	E107K	probably damaging	Het
Esco1	A	T	18: 10,593,744 (GRCm39)		probably null	Het
Fuz	A	G	7: 44,549,742 (GRCm39)	T407A	probably damaging	Het
Galr1	A	T	18: 82,424,197 (GRCm39)	F27I	probably benign	Het
Glt1d1	A	G	5: 127,754,344 (GRCm39)	Y182C	probably damaging	Het
Gm37240	A	T	3: 84,597,828 (GRCm39)		probably benign	Het
Gm37610	A	G	6: 41,061,848 (GRCm39)		noncoding transcript	Het
Gm6658	G	T	8: 91,635,020 (GRCm39)		probably benign	Het
Gm9376	A	G	14: 118,504,789 (GRCm39)	T74A	possibly damaging	Het
Hadha	G	A	5: 30,349,284 (GRCm39)	S109F	possibly damaging	Het
Herc3	A	T	6: 58,893,435 (GRCm39)	Q899L	probably benign	Het
Ift172	C	T	5: 31,434,284 (GRCm39)	E485K	probably benign	Het
Lrrc8e	A	G	8: 4,285,725 (GRCm39)	K650R	possibly damaging	Het
Ly6d	A	T	15: 74,635,381 (GRCm39)	V10D	possibly damaging	Het
Med27	A	G	2: 29,279,823 (GRCm39)		probably null	Het
Med29	A	T	7: 28,091,922 (GRCm39)	V56E	probably damaging	Het
Mobp	A	G	9: 119,996,919 (GRCm39)	K17E	probably damaging	Het
Mrpl37	G	A	4: 106,923,919 (GRCm39)	T25I	probably benign	Het
Myh1	A	G	11: 67,092,805 (GRCm39)	D33G	possibly damaging	Het
Nrg3	T	A	14: 39,194,586 (GRCm39)	I58F	possibly damaging	Het
Or52e2	A	G	7: 102,804,948 (GRCm39)	I2T	probably benign	Het
Or7e176	A	G	9: 20,171,874 (GRCm39)	D246G	probably benign	Het
Padi1	T	A	4: 140,553,892 (GRCm39)	D359V	probably benign	Het
Pcdh7	T	C	5: 57,877,753 (GRCm39)	V436A	possibly damaging	Het
Pgm3	C	A	9: 86,452,414 (GRCm39)	K15N	probably damaging	Het
Phip	A	T	9: 82,790,730 (GRCm39)		probably benign	Het
Pot1a	G	A	6: 25,778,950 (GRCm39)	T48I	possibly damaging	Het
Ppic	T	C	18: 53,542,333 (GRCm39)	K125R	probably benign	Het
Ppm1j	T	C	3: 104,692,811 (GRCm39)	V440A	possibly damaging	Het
Prg4	T	A	1: 150,331,300 (GRCm39)	K458*	probably null	Het
Rd3	A	T	1: 191,717,261 (GRCm39)	M244L	probably benign	Het
Rflnb	A	G	11: 75,912,864 (GRCm39)	Y175H	probably benign	Het
Rnf157	T	A	11: 116,237,900 (GRCm39)	S574C	probably benign	Het
Sardh	A	G	2: 27,110,653 (GRCm39)		probably null	Het
Senp3	C	T	11: 69,569,048 (GRCm39)		probably null	Het
Siglec1	G	A	2: 130,914,767 (GRCm39)	R1450C	probably damaging	Het
Sim2	A	G	16: 93,924,193 (GRCm39)	H446R	probably damaging	Het
Spon1	T	C	7: 113,631,021 (GRCm39)	I444T	probably damaging	Het
Srebf1	T	A	11: 60,094,410 (GRCm39)	Q568H	possibly damaging	Het
Stxbp4	A	T	11: 90,428,782 (GRCm39)	I441N	possibly damaging	Het
Sugt1	G	A	14: 79,846,451 (GRCm39)	V163I	probably benign	Het
Surf1	G	T	2: 26,806,271 (GRCm39)		probably benign	Het
Synj2	A	G	17: 6,088,128 (GRCm39)	E1348G	probably benign	Het
Tc2n	A	T	12: 101,619,111 (GRCm39)	V349D	probably damaging	Het
Ten1	A	G	11: 116,105,751 (GRCm39)	R112G	possibly damaging	Het
Tm9sf4	A	G	2: 153,036,201 (GRCm39)	D321G	probably damaging	Het
Ttll12	A	T	15: 83,461,237 (GRCm39)	M594K	probably damaging	Het
Ttn	T	A	2: 76,703,058 (GRCm39)		probably benign	Het
Usp28	C	T	9: 48,937,285 (GRCm39)	Q185*	probably null	Het
Vmn2r112	A	G	17: 22,838,004 (GRCm39)	I822V	probably benign	Het
Zc3hc1	A	T	6: 30,382,682 (GRCm39)	L88*	probably null	Het
Zfr	T	A	15: 12,160,701 (GRCm39)	V758D	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
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

Predicted Primers

PCR Primer
(F):5'- CCACACGAACTGTAATGCAAGG -3'
(R):5'- CCCCAGAACTAGTCATCGCTAG -3'

Sequencing Primer
(F):5'- CAAGGGGGAAATGTGTTGTAGTC -3'
(R):5'- AACTAGTCATCGCTAGAGCAG -3'

Posted On

2017-02-10