Mutagenetix > Incidental Mutations

Incidental Mutation 'R0013:Fyco1'

32651

Institutional Source

Beutler Lab

Gene Symbol

Fyco1

Ensembl Gene

ENSMUSG00000025241

Gene Name

FYVE and coiled-coil domain containing 1

Synonyms

Mem2, ZFYVE7, 2810409M01Rik

MMRRC Submission

038308-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0013 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

123789500-123851899 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 123822406 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 1196 (N1196K)

Ref Sequence

ENSEMBL: ENSMUSP00000133222 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000084715
AA Change: N1196K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000081764
Gene: ENSMUSG00000025241
AA Change: N1196K

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 benign
Transcript: ENSMUST00000167595
AA Change: N1196K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000133222
Gene: ENSMUSG00000025241
AA Change: N1196K

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.8%

Validation Efficiency

94% (79/84)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	A	G	10: 76,457,512	M156V	probably benign	Het
Adnp2	A	T	18: 80,129,745	V483D	probably damaging	Het
Aff1	G	T	5: 103,828,484	E491*	probably null	Het
Agl	A	T	3: 116,776,608	C911*	probably null	Het
Akt2	A	G	7: 27,636,058	D284G	probably damaging	Het
Alox15	A	G	11: 70,349,635	M240T	possibly damaging	Het
Antxr2	A	G	5: 97,979,985	V229A	probably damaging	Het
Arap2	G	A	5: 62,683,484	L680F	probably damaging	Het
Btaf1	A	G	19: 36,958,373	T188A	probably benign	Het
Btnl6	G	A	17: 34,515,531	Q86*	probably null	Het
C2cd3	T	A	7: 100,416,062	L685H	probably damaging	Het
Cdh23	T	C	10: 60,413,173	T878A	possibly damaging	Het
Clec4b2	T	C	6: 123,202,149	Y137H	probably damaging	Het
Dchs1	T	A	7: 105,755,836	T2500S	possibly damaging	Het
Def6	A	G	17: 28,217,092	Y75C	probably damaging	Het
Dhx33	A	T	11: 70,993,635	F448L	probably damaging	Het
Dner	C	T	1: 84,494,893		probably benign	Het
Dnmbp	G	A	19: 43,902,231	P366S	probably benign	Het
Eif4g3	T	C	4: 138,175,848	C1160R	possibly damaging	Het
Elmod1	G	A	9: 53,912,901		probably benign	Het
Faah	C	A	4: 116,004,391	L305F	probably damaging	Het
Fam71b	A	G	11: 46,406,804	T312A	unknown	Het
Flt1	A	G	5: 147,571,014		probably benign	Het
Galnt18	T	C	7: 111,554,457	N320S	probably damaging	Het
Glp2r	C	A	11: 67,709,712	G437V	possibly damaging	Het
Gm4884	T	C	7: 41,044,292	S562P	probably damaging	Het
Gm9936	A	G	5: 114,857,347		probably benign	Het
Gpn2	C	A	4: 133,584,792	P112T	probably damaging	Het
Grm4	A	G	17: 27,431,575	Y816H	probably benign	Het
Helz2	A	T	2: 181,240,959	S14T	probably benign	Het
Htt	T	C	5: 34,820,104	L778P	probably benign	Het
Il11ra1	T	C	4: 41,765,060	S129P	probably damaging	Het
Ints11	T	C	4: 155,887,168	F315S	probably damaging	Het
Itga11	A	T	9: 62,776,613	N1059Y	possibly damaging	Het
Jak3	A	G	8: 71,684,327	S716G	probably damaging	Het
Kcns1	G	T	2: 164,168,643	D65E	probably benign	Het
Kdm5d	A	T	Y: 941,715	K1305N	probably benign	Het
Kif26a	G	T	12: 112,177,880	V1523L	probably benign	Het
Mboat7	A	G	7: 3,683,822	S340P	probably damaging	Het
Mctp2	T	C	7: 72,229,408	I234V	probably benign	Het
Mex3c	G	A	18: 73,590,551	A572T	probably benign	Het
Mpp3	C	A	11: 102,005,425	R424L	probably benign	Het
Mroh4	T	A	15: 74,608,237		probably benign	Het
Myo9a	A	T	9: 59,860,206		probably benign	Het
Myog	T	A	1: 134,290,235	H60Q	probably damaging	Het
Nlrp9a	T	A	7: 26,571,225		probably null	Het
Notch1	A	G	2: 26,473,818	V868A	possibly damaging	Het
Olfr352	A	G	2: 36,870,160	N198S	probably damaging	Het
Olfr59	T	A	11: 74,289,051	I135N	possibly damaging	Het
Olfr73	T	C	2: 88,034,266	Y291C	possibly damaging	Het
Olfr980	A	T	9: 40,006,355	I198N	probably damaging	Het
Pink1	T	C	4: 138,317,401	T342A	probably benign	Het
Plb1	T	A	5: 32,349,615		probably benign	Het
Plec	T	C	15: 76,178,246	D2524G	probably damaging	Het
Plekhg4	G	T	8: 105,375,396	E6*	probably null	Het
Polq	T	C	16: 37,061,839	F1455S	possibly damaging	Het
Ppm1e	A	G	11: 87,249,058		probably benign	Het
Prkaca	G	A	8: 83,988,303	M119I	possibly damaging	Het
Prss46	G	T	9: 110,850,055	S108I	probably damaging	Het
Ptma	C	T	1: 86,529,776		probably benign	Het
Rab11fip4	C	T	11: 79,689,653	T437M	probably benign	Het
Rngtt	T	A	4: 33,379,409	M437K	probably benign	Het
Rrn3	T	A	16: 13,813,113	D604E	possibly damaging	Het
Scn4a	A	G	11: 106,348,405		probably benign	Het
Sis	A	G	3: 72,910,476	L1468P	possibly damaging	Het
Slit3	A	G	11: 35,707,918	M1450V	probably benign	Het
Smg5	T	C	3: 88,349,233	S269P	probably benign	Het
Sntg1	T	C	1: 8,463,462	T323A	probably damaging	Het
Son	C	T	16: 91,651,662	T37I	probably damaging	Het
Stk17b	T	C	1: 53,764,132	I41M	probably benign	Het
Tgm5	T	A	2: 121,076,882	Y120F	probably damaging	Het
Tppp	A	G	13: 74,021,360	K73R	possibly damaging	Het
Ttn	C	A	2: 76,739,158	K27130N	probably damaging	Het
Ttn	C	T	2: 76,907,752	V4148I	probably benign	Het
Uba7	A	T	9: 107,978,249	Y375F	probably damaging	Het
Ugcg	T	C	4: 59,213,931	L171P	possibly damaging	Het
Vsig2	T	C	9: 37,542,576		probably benign	Het
Zcchc11	T	A	4: 108,530,955		probably benign	Het
Zfp839	T	A	12: 110,868,386	S692T	possibly damaging	Het

Other mutations in Fyco1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00578:Fyco1	APN	9	123838897	missense	probably damaging	1.00
IGL01407:Fyco1	APN	9	123828879	missense	probably damaging	1.00
IGL01621:Fyco1	APN	9	123827182	unclassified	probably benign
IGL01908:Fyco1	APN	9	123829230	missense	probably damaging	1.00
IGL02006:Fyco1	APN	9	123829831	nonsense	probably null
IGL02899:Fyco1	APN	9	123830331	missense	possibly damaging	0.47
IGL03166:Fyco1	APN	9	123828387	missense	probably benign	0.00
IGL03272:Fyco1	APN	9	123829603	missense	probably benign	0.00
BB009:Fyco1	UTSW	9	123828990	missense	possibly damaging	0.79
BB019:Fyco1	UTSW	9	123828990	missense	possibly damaging	0.79
PIT4480001:Fyco1	UTSW	9	123828650	nonsense	probably null
R0025:Fyco1	UTSW	9	123829009	missense	probably damaging	1.00
R0349:Fyco1	UTSW	9	123797662	missense	probably damaging	0.98
R0751:Fyco1	UTSW	9	123819153	missense	probably damaging	1.00
R1184:Fyco1	UTSW	9	123819153	missense	probably damaging	1.00
R1563:Fyco1	UTSW	9	123827182	unclassified	probably benign
R1618:Fyco1	UTSW	9	123829281	missense	probably damaging	1.00
R1732:Fyco1	UTSW	9	123819092	missense	probably benign	0.32
R1873:Fyco1	UTSW	9	123823238	missense	probably benign
R1920:Fyco1	UTSW	9	123830413	missense	probably damaging	1.00
R2108:Fyco1	UTSW	9	123797516	critical splice donor site	probably null
R2849:Fyco1	UTSW	9	123834826	nonsense	probably null
R2944:Fyco1	UTSW	9	123826648	missense	probably benign	0.02
R4035:Fyco1	UTSW	9	123801283	missense	probably benign	0.00
R4120:Fyco1	UTSW	9	123825626	missense	probably benign	0.00
R4198:Fyco1	UTSW	9	123826634	missense	probably benign
R4534:Fyco1	UTSW	9	123838888	missense	probably damaging	1.00
R4535:Fyco1	UTSW	9	123838888	missense	probably damaging	1.00
R4536:Fyco1	UTSW	9	123838888	missense	probably damaging	1.00
R5408:Fyco1	UTSW	9	123829503	missense	probably damaging	0.99
R5522:Fyco1	UTSW	9	123794771	nonsense	probably null
R5755:Fyco1	UTSW	9	123828708	missense	possibly damaging	0.71
R5781:Fyco1	UTSW	9	123794833	missense	probably damaging	1.00
R5813:Fyco1	UTSW	9	123831348	missense	probably damaging	1.00
R7090:Fyco1	UTSW	9	123797719	missense	probably damaging	0.98
R7205:Fyco1	UTSW	9	123822426	missense	probably benign	0.00
R7932:Fyco1	UTSW	9	123828990	missense	possibly damaging	0.79
R8086:Fyco1	UTSW	9	123830406	missense	probably damaging	1.00
R8103:Fyco1	UTSW	9	123829388	missense	probably benign	0.17
R8504:Fyco1	UTSW	9	123830077	missense	probably benign	0.08
R8530:Fyco1	UTSW	9	123840540	critical splice donor site	probably null
R8822:Fyco1	UTSW	9	123819119	missense	probably damaging	1.00
R8899:Fyco1	UTSW	9	123826581	missense	probably benign	0.00
R8987:Fyco1	UTSW	9	123829074	missense	possibly damaging	0.68
Z1177:Fyco1	UTSW	9	123828323	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTGAGGGTCTTAGGTCACCACAGG -3'
(R):5'- TGGAGGCAAGCTCGGTTTGAAG -3'

Sequencing Primer
(F):5'- cacacacacacacacacac -3'
(R):5'- GTGCTTAGCAGATCTCAAGCAATC -3'

Posted On

2013-05-09