Mutagenetix > Incidental Mutation

Incidental Mutation 'R0751:Fyco1'

70335

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

038931-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0751 (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: 99.3%
3x: 98.7%
10x: 97.2%
20x: 94.4%

Validation Efficiency

99% (73/74)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahdc1	T	A	4: 132,792,707 (GRCm39)	M1316K	probably benign	Het
Alox12	T	C	11: 70,137,776 (GRCm39)	I455V	probably benign	Het
Ankrd28	A	G	14: 31,486,225 (GRCm39)	L89P	probably damaging	Het
Aqp9	A	T	9: 71,045,487 (GRCm39)	C41S	probably damaging	Het
Arhgap17	T	C	7: 122,913,913 (GRCm39)	Y199C	probably damaging	Het
Aspm	A	T	1: 139,384,636 (GRCm39)		probably benign	Het
Cacfd1	T	C	2: 26,908,993 (GRCm39)		probably null	Het
Cd33	T	C	7: 43,181,545 (GRCm39)	D205G	probably damaging	Het
Chadl	T	C	15: 81,577,258 (GRCm39)	S198G	probably benign	Het
Chtf8	A	G	8: 107,613,109 (GRCm39)		probably null	Het
Clec4a4	G	T	6: 122,989,671 (GRCm39)	W104L	probably benign	Het
Clock	A	T	5: 76,377,208 (GRCm39)	I696K	possibly damaging	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
Derl2	T	C	11: 70,905,373 (GRCm39)		probably null	Het
Dnah7c	A	G	1: 46,505,065 (GRCm39)	T154A	probably benign	Het
Dnmt3b	T	A	2: 153,516,762 (GRCm39)		probably null	Het
Dusp3	A	T	11: 101,872,554 (GRCm39)	S106T	probably benign	Het
Eftud2	A	G	11: 102,730,079 (GRCm39)	V897A	probably damaging	Het
Eif3l	T	A	15: 78,959,966 (GRCm39)		probably null	Het
Fbxo33	A	C	12: 59,265,878 (GRCm39)	F130V	probably damaging	Het
Ffar3	T	A	7: 30,554,529 (GRCm39)	N264Y	probably damaging	Het
Fig4	T	C	10: 41,148,978 (GRCm39)	D158G	probably damaging	Het
Gabra2	A	G	5: 71,249,442 (GRCm39)		probably benign	Het
Gabra6	C	A	11: 42,205,844 (GRCm39)	R336S	probably benign	Het
Hkdc1	T	C	10: 62,234,452 (GRCm39)	D581G	probably damaging	Het
Ift70a2	C	T	2: 75,808,375 (GRCm39)	A46T	probably damaging	Het
Iqgap1	A	G	7: 80,375,321 (GRCm39)		probably benign	Het
Larp4b	T	C	13: 9,216,345 (GRCm39)		probably benign	Het
Lcp1	A	T	14: 75,436,827 (GRCm39)	M58L	probably benign	Het
Lrrc8a	T	C	2: 30,146,362 (GRCm39)	V392A	possibly damaging	Het
Mavs	A	T	2: 131,088,684 (GRCm39)	Y496F	probably damaging	Het
Mpi	A	T	9: 57,457,897 (GRCm39)	S102T	probably damaging	Het
Mroh9	G	A	1: 162,893,693 (GRCm39)	R161W	possibly damaging	Het
Myo1h	A	T	5: 114,458,747 (GRCm39)	S161C	probably damaging	Het
Napg	T	G	18: 63,127,409 (GRCm39)	H204Q	probably benign	Het
Nelfcd	C	A	2: 174,264,807 (GRCm39)	A182D	probably benign	Het
Ntsr2	G	T	12: 16,704,031 (GRCm39)	K91N	probably damaging	Het
Obscn	A	G	11: 58,972,645 (GRCm39)	S2134P	probably damaging	Het
Ogfod2	G	A	5: 124,251,539 (GRCm39)		probably benign	Het
Or13a19	G	A	7: 139,903,238 (GRCm39)	V209I	probably benign	Het
Or1e26	G	T	11: 73,479,970 (GRCm39)	T198K	probably benign	Het
Pcdha8	T	C	18: 37,127,123 (GRCm39)	V535A	probably damaging	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Pik3r1	T	C	13: 101,822,866 (GRCm39)		probably null	Het
Pimreg	C	A	11: 71,933,939 (GRCm39)	Q22K	probably benign	Het
Pld5	A	G	1: 175,872,462 (GRCm39)	I225T	probably damaging	Het
Plxnc1	T	C	10: 94,667,195 (GRCm39)		probably benign	Het
Ppip5k2	A	T	1: 97,677,377 (GRCm39)	C306*	probably null	Het
Ptprc	A	G	1: 138,020,668 (GRCm39)	Y588H	probably 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
Serpinb1a	T	C	13: 33,027,199 (GRCm39)	K248E	probably benign	Het
Serpinb9e	A	C	13: 33,443,757 (GRCm39)	E259A	probably benign	Het
Slc12a4	A	T	8: 106,678,532 (GRCm39)	V266E	probably damaging	Het
Slc8b1	A	G	5: 120,662,260 (GRCm39)		probably benign	Het
Spink6	T	C	18: 44,204,605 (GRCm39)		probably benign	Het
Spta1	G	A	1: 174,012,256 (GRCm39)	R354H	probably damaging	Het
Ssb	T	A	2: 69,700,909 (GRCm39)	S330T	probably benign	Het
Stard9	G	T	2: 120,527,966 (GRCm39)	V1408F	probably benign	Het
Sumf2	A	T	5: 129,878,846 (GRCm39)	T61S	probably benign	Het
Sypl2	T	C	3: 108,124,072 (GRCm39)	T157A	probably damaging	Het
Tgfbr3	A	T	5: 107,287,749 (GRCm39)	D483E	probably damaging	Het
Tnrc6a	A	G	7: 122,769,563 (GRCm39)	N451S	possibly damaging	Het
Tradd	T	C	8: 105,986,403 (GRCm39)	E123G	probably damaging	Het
Trim36	T	C	18: 46,329,318 (GRCm39)	T41A	probably damaging	Het
Ttll7	C	T	3: 146,645,746 (GRCm39)	P535S	probably damaging	Het
Ubr4	C	T	4: 139,164,509 (GRCm39)		probably benign	Het
Uqcc5	G	T	14: 30,810,953 (GRCm39)		probably benign	Het
Vmn1r195	A	G	13: 22,463,181 (GRCm39)	Y217C	probably damaging	Het
Vmn2r63	A	C	7: 42,577,459 (GRCm39)	F360V	probably damaging	Het
Vmn2r78	G	A	7: 86,603,588 (GRCm39)	V589M	possibly damaging	Het
Vmn2r-ps158	A	G	7: 42,696,833 (GRCm39)	Y630C	probably damaging	Het
Vrk2	A	G	11: 26,433,331 (GRCm39)		probably benign	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
R1184: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

2013-09-30