Mutagenetix > Incidental Mutation

Incidental Mutation 'R1184:Fyco1'

101938

Institutional Source

Beutler Lab

Gene Symbol

Fyco1

Ensembl Gene

ENSMUSG00000025241

Gene Name

FYVE and coiled-coil domain containing 1

Synonyms

ZFYVE7, 2810409M01Rik, Mem2

MMRRC Submission

039256-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1184 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

123618565-123680964 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123648218 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 1239 (F1239L)

Ref Sequence

ENSEMBL: ENSMUSP00000133222 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084715] [ENSMUST00000167595]

AlphaFold

Q8VDC1

Predicted Effect

probably damaging
Transcript: ENSMUST00000084715
AA Change: F1239L

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

SMART Domains

Protein: ENSMUSP00000081764
Gene: ENSMUSG00000025241
AA Change: F1239L

Domain	Start	End	E-Value	Type
Pfam:RUN	19	167	4.7e-12	PFAM
low complexity region	196	206	N/A	INTRINSIC
coiled coil region	223	270	N/A	INTRINSIC
coiled coil region	348	1110	N/A	INTRINSIC
FYVE	1124	1191	2.69e-16	SMART
PDB:1OLM\|E	1343	1428	1e-5	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000167595
AA Change: F1239L

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

SMART Domains

Protein: ENSMUSP00000133222
Gene: ENSMUSG00000025241
AA Change: F1239L

Domain	Start	End	E-Value	Type
Pfam:RUN	20	167	7.8e-12	PFAM
low complexity region	196	206	N/A	INTRINSIC
coiled coil region	223	270	N/A	INTRINSIC
coiled coil region	348	1110	N/A	INTRINSIC
FYVE	1124	1191	2.69e-16	SMART
PDB:1OLM\|E	1343	1428	1e-5	PDB

Meta Mutation Damage Score

0.3091

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.5%

Validation Efficiency

100% (83/83)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains a RUN domain, FYVE-type zinc finger domain and Golgi dynamics (GOLD) domain. The encoded protein plays a role in microtubule plus end-directed transport of autophagic vesicles through interactions with the small GTPase Rab7, phosphatidylinositol-3-phosphate (PI3P) and the autophagosome marker LC3. Mutations in this gene are a cause of autosomal recessive congenital cataract-2 (CATC2). [provided by RefSeq, Dec 2011]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	G	6: 83,137,894 (GRCm39)	R7G	probably damaging	Het
Ahdc1	T	A	4: 132,792,707 (GRCm39)	M1316K	probably benign	Het
Alkal1	A	G	1: 6,459,712 (GRCm39)	Y96C	probably damaging	Het
Anxa2r1	A	T	13: 120,496,667 (GRCm39)	N67K	probably benign	Het
Arhgap17	T	C	7: 122,913,913 (GRCm39)	Y199C	probably damaging	Het
Bmp2	T	C	2: 133,403,388 (GRCm39)	V313A	probably damaging	Het
Cacna1b	C	T	2: 24,577,757 (GRCm39)		probably null	Het
Cars1	T	C	7: 143,140,876 (GRCm39)	T141A	probably damaging	Het
Ccdc57	A	G	11: 120,764,637 (GRCm39)		probably benign	Het
Cenpe	T	C	3: 134,970,183 (GRCm39)		probably null	Het
Chadl	T	C	15: 81,577,258 (GRCm39)	S198G	probably benign	Het
Chd6	G	C	2: 160,872,722 (GRCm39)	P286R	probably damaging	Het
Clec4a4	G	T	6: 122,989,671 (GRCm39)	W104L	probably benign	Het
Coq4	G	A	2: 29,678,346 (GRCm39)		probably benign	Het
Cplane1	G	T	15: 8,245,971 (GRCm39)	V1448L	probably benign	Het
Crtc2	T	A	3: 90,169,940 (GRCm39)	Y445*	probably null	Het
Dapk1	A	T	13: 60,844,112 (GRCm39)	I44F	probably damaging	Het
Dcbld2	T	A	16: 58,270,204 (GRCm39)		probably null	Het
Dcun1d4	T	C	5: 73,668,455 (GRCm39)		probably benign	Het
Depdc7	A	T	2: 104,560,523 (GRCm39)		probably benign	Het
Dna2	A	G	10: 62,794,977 (GRCm39)	D416G	probably benign	Het
Dnah2	A	T	11: 69,390,016 (GRCm39)	I743N	probably damaging	Het
Dnah9	A	G	11: 65,975,438 (GRCm39)		probably null	Het
Dock3	A	G	9: 106,846,999 (GRCm39)	S877P	probably damaging	Het
Eif3l	T	A	15: 78,959,966 (GRCm39)		probably null	Het
Epha5	A	T	5: 84,219,134 (GRCm39)		probably null	Het
Ffar3	T	A	7: 30,554,529 (GRCm39)	N264Y	probably damaging	Het
Fyb1	A	T	15: 6,668,381 (GRCm39)	I525F	probably damaging	Het
Gcdh	T	C	8: 85,620,071 (GRCm39)		probably benign	Het
Gk5	T	C	9: 96,032,473 (GRCm39)		probably benign	Het
Grm1	A	G	10: 10,595,778 (GRCm39)	Y617H	probably benign	Het
Gvin-ps3	A	G	7: 105,683,159 (GRCm39)	V32A	probably benign	Het
Hhipl2	A	T	1: 183,206,042 (GRCm39)	I131L	probably damaging	Het
Larp4b	T	C	13: 9,216,345 (GRCm39)		probably benign	Het
Lrig2	T	A	3: 104,398,227 (GRCm39)	I301F	possibly damaging	Het
Man2a2	A	T	7: 80,012,713 (GRCm39)	I600N	possibly damaging	Het
Mylk2	G	C	2: 152,755,661 (GRCm39)		probably null	Het
Myo6	C	T	9: 80,193,664 (GRCm39)	Q870*	probably null	Het
Napg	T	G	18: 63,127,409 (GRCm39)	H204Q	probably benign	Het
Neb	G	A	2: 52,153,959 (GRCm39)	T2384M	probably damaging	Het
Nek10	A	G	14: 14,931,325 (GRCm38)		probably benign	Het
Or11h23	A	C	14: 50,948,071 (GRCm39)	T95P	probably benign	Het
Or4c111	A	G	2: 88,844,057 (GRCm39)	M117T	probably damaging	Het
Or5an6	T	C	19: 12,372,221 (GRCm39)	V198A	probably benign	Het
Or5b108	T	G	19: 13,168,739 (GRCm39)	L236R	probably damaging	Het
Pclo	A	G	5: 14,572,276 (GRCm39)	T554A	unknown	Het
Perm1	C	A	4: 156,301,771 (GRCm39)	T105K	probably damaging	Het
Pik3r1	T	C	13: 101,822,866 (GRCm39)		probably null	Het
Pld5	A	G	1: 175,872,462 (GRCm39)	I225T	probably damaging	Het
Plxnc1	T	C	10: 94,667,195 (GRCm39)		probably benign	Het
Ptpn12	A	C	5: 21,203,354 (GRCm39)	S475A	possibly damaging	Het
Ptprt	A	G	2: 161,769,692 (GRCm39)	V391A	possibly damaging	Het
Rac2	T	G	15: 78,450,145 (GRCm39)	D65A	possibly damaging	Het
Rgl3	A	G	9: 21,888,676 (GRCm39)		probably null	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Sebox	A	T	11: 78,394,675 (GRCm39)	T47S	probably damaging	Het
Sema4b	A	G	7: 79,874,388 (GRCm39)	T593A	probably benign	Het
Serpina3a	C	T	12: 104,082,787 (GRCm39)	Q187*	probably null	Het
Serpinb1a	T	C	13: 33,027,199 (GRCm39)	K248E	probably benign	Het
Serpinb9e	A	C	13: 33,443,757 (GRCm39)	E259A	probably benign	Het
Slc30a3	T	A	5: 31,247,510 (GRCm39)	H44L	probably damaging	Het
Smarca2	T	C	19: 26,748,333 (GRCm39)		probably benign	Het
Snrnp200	T	A	2: 127,078,737 (GRCm39)	C1801S	probably damaging	Het
Soat1	G	A	1: 156,269,944 (GRCm39)		probably null	Het
Spink6	T	C	18: 44,204,605 (GRCm39)		probably benign	Het
Spta1	G	A	1: 174,012,256 (GRCm39)	R354H	probably damaging	Het
Tbck	T	A	3: 132,543,733 (GRCm39)	H861Q	probably benign	Het
Tgfbrap1	G	A	1: 43,088,856 (GRCm39)	T849M	possibly damaging	Het
Tnrc6a	A	G	7: 122,769,563 (GRCm39)	N451S	possibly damaging	Het
Trim36	T	C	18: 46,329,318 (GRCm39)	T41A	probably damaging	Het
Trmt112	C	A	19: 6,887,721 (GRCm39)		probably benign	Het
Trpc4ap	A	G	2: 155,486,990 (GRCm39)		probably benign	Het
Ttll7	C	T	3: 146,645,746 (GRCm39)	P535S	probably damaging	Het
Ttn	A	T	2: 76,691,776 (GRCm39)		probably benign	Het
Txndc11	C	T	16: 10,946,364 (GRCm39)	R149Q	probably benign	Het
Ubr4	C	T	4: 139,164,509 (GRCm39)		probably benign	Het
Usp30	G	A	5: 114,241,888 (GRCm39)		probably null	Het
Vmn1r195	A	G	13: 22,463,181 (GRCm39)	Y217C	probably damaging	Het
Vps33b	T	A	7: 79,932,234 (GRCm39)	D135E	probably benign	Het
Vrk2	A	G	11: 26,433,331 (GRCm39)		probably benign	Het
Wdr81	G	T	11: 75,343,809 (GRCm39)	P486Q	probably damaging	Het
Zfp788	T	C	7: 41,297,750 (GRCm39)	Y129H	probably damaging	Het

Other mutations in Fyco1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00578:Fyco1	APN	9	123,667,962 (GRCm39)	missense	probably damaging	1.00
IGL01407:Fyco1	APN	9	123,657,944 (GRCm39)	missense	probably damaging	1.00
IGL01621:Fyco1	APN	9	123,656,247 (GRCm39)	unclassified	probably benign
IGL01908:Fyco1	APN	9	123,658,295 (GRCm39)	missense	probably damaging	1.00
IGL02006:Fyco1	APN	9	123,658,896 (GRCm39)	nonsense	probably null
IGL02899:Fyco1	APN	9	123,659,396 (GRCm39)	missense	possibly damaging	0.47
IGL03166:Fyco1	APN	9	123,657,452 (GRCm39)	missense	probably benign	0.00
IGL03272:Fyco1	APN	9	123,658,668 (GRCm39)	missense	probably benign	0.00
BB009:Fyco1	UTSW	9	123,658,055 (GRCm39)	missense	possibly damaging	0.79
BB019:Fyco1	UTSW	9	123,658,055 (GRCm39)	missense	possibly damaging	0.79
PIT4480001:Fyco1	UTSW	9	123,657,715 (GRCm39)	nonsense	probably null
R0013:Fyco1	UTSW	9	123,651,471 (GRCm39)	missense	probably benign
R0025:Fyco1	UTSW	9	123,658,074 (GRCm39)	missense	probably damaging	1.00
R0349:Fyco1	UTSW	9	123,626,727 (GRCm39)	missense	probably damaging	0.98
R0751:Fyco1	UTSW	9	123,648,218 (GRCm39)	missense	probably damaging	1.00
R1563:Fyco1	UTSW	9	123,656,247 (GRCm39)	unclassified	probably benign
R1618:Fyco1	UTSW	9	123,658,346 (GRCm39)	missense	probably damaging	1.00
R1732:Fyco1	UTSW	9	123,648,157 (GRCm39)	missense	probably benign	0.32
R1873:Fyco1	UTSW	9	123,652,303 (GRCm39)	missense	probably benign
R1920:Fyco1	UTSW	9	123,659,478 (GRCm39)	missense	probably damaging	1.00
R2108:Fyco1	UTSW	9	123,626,581 (GRCm39)	critical splice donor site	probably null
R2849:Fyco1	UTSW	9	123,663,891 (GRCm39)	nonsense	probably null
R2944:Fyco1	UTSW	9	123,655,713 (GRCm39)	missense	probably benign	0.02
R4035:Fyco1	UTSW	9	123,630,348 (GRCm39)	missense	probably benign	0.00
R4120:Fyco1	UTSW	9	123,654,691 (GRCm39)	missense	probably benign	0.00
R4198:Fyco1	UTSW	9	123,655,699 (GRCm39)	missense	probably benign
R4534:Fyco1	UTSW	9	123,667,953 (GRCm39)	missense	probably damaging	1.00
R4535:Fyco1	UTSW	9	123,667,953 (GRCm39)	missense	probably damaging	1.00
R4536:Fyco1	UTSW	9	123,667,953 (GRCm39)	missense	probably damaging	1.00
R5408:Fyco1	UTSW	9	123,658,568 (GRCm39)	missense	probably damaging	0.99
R5522:Fyco1	UTSW	9	123,623,836 (GRCm39)	nonsense	probably null
R5755:Fyco1	UTSW	9	123,657,773 (GRCm39)	missense	possibly damaging	0.71
R5781:Fyco1	UTSW	9	123,623,898 (GRCm39)	missense	probably damaging	1.00
R5813:Fyco1	UTSW	9	123,660,413 (GRCm39)	missense	probably damaging	1.00
R7090:Fyco1	UTSW	9	123,626,784 (GRCm39)	missense	probably damaging	0.98
R7205:Fyco1	UTSW	9	123,651,491 (GRCm39)	missense	probably benign	0.00
R7932:Fyco1	UTSW	9	123,658,055 (GRCm39)	missense	possibly damaging	0.79
R8086:Fyco1	UTSW	9	123,659,471 (GRCm39)	missense	probably damaging	1.00
R8103:Fyco1	UTSW	9	123,658,453 (GRCm39)	missense	probably benign	0.17
R8504:Fyco1	UTSW	9	123,659,142 (GRCm39)	missense	probably benign	0.08
R8530:Fyco1	UTSW	9	123,669,605 (GRCm39)	critical splice donor site	probably null
R8822:Fyco1	UTSW	9	123,648,184 (GRCm39)	missense	probably damaging	1.00
R8899:Fyco1	UTSW	9	123,655,646 (GRCm39)	missense	probably benign	0.00
R8987:Fyco1	UTSW	9	123,658,139 (GRCm39)	missense	possibly damaging	0.68
R9227:Fyco1	UTSW	9	123,648,211 (GRCm39)	missense	probably damaging	1.00
R9239:Fyco1	UTSW	9	123,626,637 (GRCm39)	missense	probably damaging	1.00
R9294:Fyco1	UTSW	9	123,623,878 (GRCm39)	missense	probably damaging	1.00
R9347:Fyco1	UTSW	9	123,660,350 (GRCm39)	critical splice donor site	probably null
R9610:Fyco1	UTSW	9	123,657,585 (GRCm39)	missense	possibly damaging	0.63
R9611:Fyco1	UTSW	9	123,657,585 (GRCm39)	missense	possibly damaging	0.63
R9797:Fyco1	UTSW	9	123,626,761 (GRCm39)	missense	probably benign	0.00
Z1177:Fyco1	UTSW	9	123,657,388 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GAGCACTGCAACTTTTCAAGAGCC -3'
(R):5'- ATCAGCTTGTTCTCCATAGCAGCAC -3'

Sequencing Primer
(F):5'- TGAACACTGTTCTGAGGCATC -3'
(R):5'- CATAGCAGCACCCTTCATTTC -3'

Posted On

2014-01-15