Mutagenetix > Incidental Mutation

Incidental Mutation 'R9652:Zfyve27'

735425

Institutional Source

Beutler Lab

Gene Symbol

Zfyve27

Ensembl Gene

ENSMUSG00000018820

Gene Name

zinc finger, FYVE domain containing 27

Synonyms

9530077C24Rik, 2210011N02Rik, protrudin

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R9652 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

42159006-42183032 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 42165856 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 76 (T76A)

Ref Sequence

ENSEMBL: ENSMUSP00000130684 (fasta)

Gene Model

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

AlphaFold

Q3TXX3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099443
AA Change: T76A

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000097042
Gene: ENSMUSG00000018820
AA Change: T76A

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

probably benign
Transcript: ENSMUST00000168130

SMART Domains

Protein: ENSMUSP00000129561
Gene: ENSMUSG00000018820

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169536
AA Change: T76A

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000130684
Gene: ENSMUSG00000018820
AA Change: T76A

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

1x: 99.9%
3x: 99.8%
10x: 99.6%
20x: 99.1%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1l1	G	A	18: 61,876,432 (GRCm39)	T395M	probably damaging	Het
Akap8l	T	C	17: 32,557,783 (GRCm39)	N35D	probably damaging	Het
Atr	T	A	9: 95,756,887 (GRCm39)	L922Q	probably damaging	Het
B3gnt9	G	T	8: 105,981,129 (GRCm39)	F86L	probably damaging	Het
Bmp1	T	C	14: 70,715,360 (GRCm39)	D925G	probably damaging	Het
Camkmt	A	T	17: 85,759,713 (GRCm39)	R284S	probably benign	Het
Cavin3	G	T	7: 105,131,304 (GRCm39)	H21Q	probably damaging	Het
Ccp110	A	G	7: 118,334,553 (GRCm39)	H180R		Het
Cdh23	A	T	10: 60,167,135 (GRCm39)	V1837E	probably damaging	Het
Ces3b	G	T	8: 105,812,257 (GRCm39)	A169S	probably damaging	Het
Chpt1	T	C	10: 88,325,499 (GRCm39)	N122S	probably benign	Het
Cramp1	C	A	17: 25,201,783 (GRCm39)	K566N	probably damaging	Het
Ctbp2	C	G	7: 132,615,933 (GRCm39)	R334P	probably damaging	Het
Cwh43	T	C	5: 73,572,340 (GRCm39)	S193P	probably benign	Het
Dcstamp	A	T	15: 39,623,792 (GRCm39)	D469V	probably benign	Het
Dst	T	A	1: 34,219,458 (GRCm39)	I1966N	probably benign	Het
Eif3i	G	T	4: 129,489,094 (GRCm39)	F121L	probably benign	Het
Erbb2	T	C	11: 98,326,812 (GRCm39)	S1074P	probably damaging	Het
Fam186b	G	A	15: 99,177,616 (GRCm39)	A570V	probably damaging	Het
Fbn2	A	G	18: 58,146,722 (GRCm39)		probably null	Het
Foxo3	C	T	10: 42,073,021 (GRCm39)	V499M	probably damaging	Het
Gm2a	T	C	11: 54,999,764 (GRCm39)	V95A	probably benign	Het
Gp5	A	C	16: 30,128,393 (GRCm39)	F94V	probably damaging	Het
Gramd4	G	A	15: 86,016,160 (GRCm39)	E504K	probably damaging	Het
Gusb	A	G	5: 130,026,652 (GRCm39)	S450P	probably damaging	Het
Htr5a	A	G	5: 28,047,838 (GRCm39)	N131S	possibly damaging	Het
Itga2	G	A	13: 115,020,991 (GRCm39)	P120L	probably benign	Het
Itpkb	G	T	1: 180,160,056 (GRCm39)	E61*	probably null	Het
Katnbl1	T	A	2: 112,239,497 (GRCm39)	V232D	probably damaging	Het
Kifap3	T	C	1: 163,689,657 (GRCm39)	L547P	probably damaging	Het
Krt6a	C	T	15: 101,599,120 (GRCm39)	V482M	probably benign	Het
Lrfn5	T	A	12: 61,890,418 (GRCm39)	V569D	probably damaging	Het
Luzp2	A	G	7: 54,702,580 (GRCm39)	T48A	probably damaging	Het
Mical2	G	T	7: 111,945,996 (GRCm39)	R986L	probably damaging	Het
Mroh8	G	A	2: 157,094,970 (GRCm39)	Q339*	probably null	Het
Msln	A	T	17: 25,968,042 (GRCm39)	V541E	probably damaging	Het
Muc16	T	A	9: 18,498,178 (GRCm39)	M6590L	probably benign	Het
Nhsl3	T	C	4: 129,117,962 (GRCm39)	E279G	possibly damaging	Het
Nisch	A	T	14: 30,893,628 (GRCm39)	V1315E	probably damaging	Het
Nubp2	G	A	17: 25,103,382 (GRCm39)	T165I	probably damaging	Het
Oog3	T	G	4: 143,884,489 (GRCm39)	R482S	probably benign	Het
Or2a7	A	G	6: 43,150,991 (GRCm39)	M24V	probably benign	Het
Or56a42-ps1	A	T	7: 104,775,985 (GRCm39)	N164K	probably benign	Het
Or6c33	T	C	10: 129,853,809 (GRCm39)	I193T	possibly damaging	Het
Or7a41	T	C	10: 78,871,230 (GRCm39)	I200T	probably benign	Het
Or8k39	A	T	2: 86,563,636 (GRCm39)	F107I	probably damaging	Het
P3h4	A	T	11: 100,304,499 (GRCm39)	C247*	probably null	Het
Pakap	G	A	4: 57,710,125 (GRCm39)	A357T	possibly damaging	Het
Plch2	T	A	4: 155,082,942 (GRCm39)	M569L	probably benign	Het
Plcl1	A	G	1: 55,735,450 (GRCm39)	T264A	probably benign	Het
Rad51ap1	G	T	6: 126,904,526 (GRCm39)	N178K	probably benign	Het
Rasa4	T	C	5: 136,130,494 (GRCm39)	L340P	probably damaging	Het
Rassf10	A	G	7: 112,554,784 (GRCm39)	T462A	probably benign	Het
Rlf	G	C	4: 121,007,865 (GRCm39)	L482V	probably damaging	Het
Robo1	T	G	16: 72,821,330 (GRCm39)	S1357A	possibly damaging	Het
Rp1l1	T	C	14: 64,269,714 (GRCm39)	S1767P	probably damaging	Het
Rpl3l	T	A	17: 24,947,328 (GRCm39)	L14Q	probably damaging	Het
Ryr3	T	A	2: 112,635,047 (GRCm39)	T2024S	possibly damaging	Het
Sbf2	T	C	7: 110,040,702 (GRCm39)	Q375R	possibly damaging	Het
Sema6a	T	C	18: 47,382,252 (GRCm39)	Q765R	probably damaging	Het
Senp6	T	A	9: 80,021,228 (GRCm39)	Y303N	probably damaging	Het
Sertad4	C	T	1: 192,528,836 (GRCm39)	D327N	probably damaging	Het
Slc22a15	T	A	3: 101,790,848 (GRCm39)	Y219F	possibly damaging	Het
Slco1b2	T	G	6: 141,594,358 (GRCm39)		probably null	Het
Snrnp200	G	T	2: 127,067,959 (GRCm39)	V819L	probably damaging	Het
Ssb	C	A	2: 69,700,784 (GRCm39)	A288E	probably damaging	Het
Syne2	A	G	12: 76,101,620 (GRCm39)	H638R	probably benign	Het
Tm7sf3	A	G	6: 146,527,698 (GRCm39)	S43P	probably benign	Het
Tmem200c	A	G	17: 69,149,181 (GRCm39)	H588R	probably benign	Het
Tnpo3	G	A	6: 29,560,173 (GRCm39)	R657*	probably null	Het
Traf6	T	C	2: 101,518,927 (GRCm39)	C139R	probably damaging	Het
Txnrd1	C	A	10: 82,720,390 (GRCm39)	N424K	possibly damaging	Het
Ubqln3	T	C	7: 103,791,962 (GRCm39)	I43V	probably damaging	Het
Usp32	A	G	11: 84,921,317 (GRCm39)	V699A	probably damaging	Het
Vmn2r103	T	C	17: 20,014,027 (GRCm39)	V273A	probably benign	Het
Vmn2r8	A	G	5: 108,951,107 (GRCm39)	S113P	probably benign	Het
Wdr7	T	A	18: 63,860,826 (GRCm39)	I161N	probably damaging	Het
Zfp474	A	T	18: 52,772,015 (GRCm39)	I223F	probably damaging	Het
Zfp583	A	G	7: 6,320,328 (GRCm39)	L228P	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
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

Predicted Primers

PCR Primer
(F):5'- GGCTACTGTGTGACCACTTTG -3'
(R):5'- GTGCCCAAAGTCACACAGAG -3'

Sequencing Primer
(F):5'- GTGACCACTTTGTTCCTCTGTTAAC -3'
(R):5'- CAGAGCTTGTGTTCCAACA -3'

Posted On

2022-11-14