Mutagenetix > Incidental Mutation

Incidental Mutation 'R5966:Rufy1'

472111

Institutional Source

Beutler Lab

Gene Symbol

Rufy1

Ensembl Gene

ENSMUSG00000020375

Gene Name

RUN and FYVE domain containing 1

Synonyms

Rabip4, ZFYVE12, 3000002E04Rik

MMRRC Submission

044151-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.419) question?

Stock #

R5966 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50280113-50321952 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 50292315 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 491 (F491L)

Ref Sequence

ENSEMBL: ENSMUSP00000020643 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020643]

AlphaFold

Q8BIJ7

Predicted Effect

probably benign
Transcript: ENSMUST00000020643
AA Change: F491L

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

SMART Domains

Protein: ENSMUSP00000020643
Gene: ENSMUSG00000020375
AA Change: F491L

Domain	Start	End	E-Value	Type
low complexity region	15	32	N/A	INTRINSIC
low complexity region	83	111	N/A	INTRINSIC
RUN	211	273	1.21e-21	SMART
coiled coil region	324	384	N/A	INTRINSIC
coiled coil region	409	621	N/A	INTRINSIC
FYVE	638	705	1.24e-24	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135508

Meta Mutation Damage Score

0.0578

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.5%

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 and a FYVE-type zinc finger domain. The encoded protein binds to phosphatidylinositol-3-phosphate (PI3P) and plays a role in early endosomal trafficking, tethering and fusion through interactions with small GTPases including Rab4, Rab5 and Rab14. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930009A15Rik	A	T	10: 115,415,717 (GRCm39)		probably benign	Het
Acaa2	T	C	18: 74,937,223 (GRCm39)	L369S	probably damaging	Het
Akna	A	G	4: 63,313,140 (GRCm39)	S328P	probably damaging	Het
Albfm1	A	G	5: 90,719,546 (GRCm39)	Y214C	probably damaging	Het
Apc	A	G	18: 34,354,140 (GRCm39)		probably benign	Het
Brca2	C	T	5: 150,466,716 (GRCm39)	T2160I	probably damaging	Het
Camsap2	A	G	1: 136,204,330 (GRCm39)	S1251P	probably damaging	Het
Ccdc110	A	G	8: 46,395,573 (GRCm39)	E488G	probably damaging	Het
Ccdc158	T	A	5: 92,797,908 (GRCm39)	I411F	probably damaging	Het
Cd163	C	T	6: 124,297,595 (GRCm39)	Q914*	probably null	Het
Cd22	T	C	7: 30,566,083 (GRCm39)	D827G	probably damaging	Het
Ces1e	A	G	8: 93,946,001 (GRCm39)		probably null	Het
Col14a1	T	C	15: 55,315,779 (GRCm39)		probably null	Het
Csmd3	T	A	15: 47,713,135 (GRCm39)	D1509V	probably damaging	Het
Ddx51	A	G	5: 110,804,717 (GRCm39)	D543G	probably damaging	Het
Diaph3	T	A	14: 87,222,261 (GRCm39)	I408F	probably damaging	Het
Dld	G	A	12: 31,390,325 (GRCm39)	P213L	probably damaging	Het
Dnah6	T	C	6: 73,037,262 (GRCm39)	T3327A	probably benign	Het
Dnttip2	T	A	3: 122,078,817 (GRCm39)		probably benign	Het
Dock10	T	C	1: 80,546,225 (GRCm39)	E791G	possibly damaging	Het
Ehd3	G	T	17: 74,134,356 (GRCm39)	W238C	probably damaging	Het
Ehd3	T	G	17: 74,134,361 (GRCm39)	L240R	probably damaging	Het
Ep400	A	G	5: 110,824,766 (GRCm39)	V2357A	unknown	Het
Fam20c	T	C	5: 138,741,932 (GRCm39)	V181A	probably damaging	Het
Gm4781	T	C	10: 100,232,814 (GRCm39)		noncoding transcript	Het
Gpatch8	A	T	11: 102,371,058 (GRCm39)	S827T	unknown	Het
Grm3	A	T	5: 9,561,930 (GRCm39)	I640N	probably damaging	Het
Gstm7	A	G	3: 107,838,747 (GRCm39)		probably benign	Het
Hdac7	G	T	15: 97,700,372 (GRCm39)	H572Q	probably damaging	Het
Ift140	C	T	17: 25,313,735 (GRCm39)	Q1389*	probably null	Het
Igfn1	A	G	1: 135,893,152 (GRCm39)	V2099A	probably damaging	Het
Ik	A	G	18: 36,888,531 (GRCm39)	N443S	possibly damaging	Het
Impact	A	G	18: 13,123,601 (GRCm39)	K315E	probably benign	Het
Insr	C	A	8: 3,308,697 (GRCm39)	R113L	probably benign	Het
Jak2	T	A	19: 29,260,954 (GRCm39)	Y317N	possibly damaging	Het
Kif18a	T	A	2: 109,122,411 (GRCm39)	V162E	probably damaging	Het
L3mbtl3	A	G	10: 26,207,762 (GRCm39)	V319A	unknown	Het
Lepr	T	C	4: 101,649,324 (GRCm39)		probably benign	Het
Lmo7	C	T	14: 102,137,938 (GRCm39)	T647I	possibly damaging	Het
Mindy3	C	T	2: 12,405,854 (GRCm39)	R147Q	probably benign	Het
Mtr	T	C	13: 12,230,453 (GRCm39)		probably null	Het
Muc4	A	T	16: 32,576,652 (GRCm39)		probably benign	Het
Nrip1	G	A	16: 76,090,471 (GRCm39)	T362M	possibly damaging	Het
Or1j17	G	T	2: 36,578,074 (GRCm39)	R20L	probably null	Het
Or1q1	T	C	2: 36,886,957 (GRCm39)	I45T	possibly damaging	Het
Or5d45	A	G	2: 88,153,222 (GRCm39)	S276P	probably benign	Het
Ovol1	G	A	19: 5,601,630 (GRCm39)	R131C	probably damaging	Het
Pcca	T	C	14: 122,905,998 (GRCm39)	V323A	probably damaging	Het
Pcdhb14	A	T	18: 37,581,295 (GRCm39)	M134L	probably benign	Het
Pecam1	G	A	11: 106,581,887 (GRCm39)	T252M	probably benign	Het
Rnd3	T	A	2: 51,022,536 (GRCm39)	I169F	probably damaging	Het
Rnmt	T	A	18: 68,444,689 (GRCm39)	D219E	probably benign	Het
Ryr2	G	T	13: 11,677,124 (GRCm39)	C3242*	probably null	Het
Smurf2	G	T	11: 106,766,727 (GRCm39)	R31S	possibly damaging	Het
Sptbn1	A	G	11: 30,074,873 (GRCm39)	I1333T	probably damaging	Het
Stard9	G	A	2: 120,527,580 (GRCm39)	C1279Y	probably damaging	Het
Sugp2	T	C	8: 70,704,753 (GRCm39)		probably null	Het
Sulf1	A	T	1: 12,929,636 (GRCm39)	D301V	probably benign	Het
Tbcd	G	T	11: 121,492,737 (GRCm39)		probably benign	Het
Tlr11	T	C	14: 50,599,712 (GRCm39)	I566T	probably benign	Het
Tm9sf2	T	A	14: 122,374,921 (GRCm39)		probably benign	Het
Tnfaip8l1	T	C	17: 56,478,799 (GRCm39)	F30L	probably benign	Het
Trav15-2-dv6-2	T	A	14: 53,887,433 (GRCm39)	C118S	probably damaging	Het
Ttc13	A	G	8: 125,408,959 (GRCm39)		probably benign	Het
Ubqln3	A	T	7: 103,790,906 (GRCm39)	S395T	probably benign	Het
Urb2	A	G	8: 124,754,827 (GRCm39)	D178G	probably benign	Het
Usf3	A	G	16: 44,041,222 (GRCm39)	I1901V	probably benign	Het
Vmn1r173	A	T	7: 23,402,112 (GRCm39)	I116F	probably benign	Het
Vmn1r69	T	A	7: 10,314,717 (GRCm39)	T5S	probably benign	Het
Wbp1l	C	T	19: 46,642,619 (GRCm39)	R191*	probably null	Het
Wfikkn2	C	T	11: 94,129,688 (GRCm39)	R151H	probably damaging	Het

Other mutations in Rufy1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01131:Rufy1	APN	11	50,282,850 (GRCm39)	missense	probably damaging	1.00
IGL01640:Rufy1	APN	11	50,281,205 (GRCm39)	unclassified	probably benign
IGL01829:Rufy1	APN	11	50,307,071 (GRCm39)	nonsense	probably null
IGL02559:Rufy1	APN	11	50,311,310 (GRCm39)	missense	probably damaging	1.00
IGL03409:Rufy1	APN	11	50,297,310 (GRCm39)	missense	probably benign	0.00
R0053:Rufy1	UTSW	11	50,292,292 (GRCm39)	missense	probably benign	0.10
R0053:Rufy1	UTSW	11	50,292,292 (GRCm39)	missense	probably benign	0.10
R0193:Rufy1	UTSW	11	50,280,679 (GRCm39)	missense	probably benign	0.12
R1028:Rufy1	UTSW	11	50,305,425 (GRCm39)	splice site	probably null
R1591:Rufy1	UTSW	11	50,285,755 (GRCm39)	missense	probably damaging	1.00
R1818:Rufy1	UTSW	11	50,305,399 (GRCm39)	missense	probably benign	0.43
R1952:Rufy1	UTSW	11	50,297,233 (GRCm39)	missense	probably benign	0.01
R2228:Rufy1	UTSW	11	50,288,611 (GRCm39)	splice site	probably null
R2982:Rufy1	UTSW	11	50,310,535 (GRCm39)	missense	possibly damaging	0.77
R4837:Rufy1	UTSW	11	50,292,320 (GRCm39)	missense	probably damaging	0.96
R4874:Rufy1	UTSW	11	50,297,277 (GRCm39)	missense	possibly damaging	0.80
R4959:Rufy1	UTSW	11	50,292,315 (GRCm39)	missense	probably benign
R4968:Rufy1	UTSW	11	50,301,434 (GRCm39)	missense	probably benign	0.01
R5204:Rufy1	UTSW	11	50,297,261 (GRCm39)	missense	probably damaging	1.00
R5426:Rufy1	UTSW	11	50,312,561 (GRCm39)	missense	probably damaging	1.00
R6129:Rufy1	UTSW	11	50,308,075 (GRCm39)	missense	probably damaging	0.99
R6930:Rufy1	UTSW	11	50,289,207 (GRCm39)	missense	probably benign	0.05
R7073:Rufy1	UTSW	11	50,295,290 (GRCm39)	missense	probably benign	0.05
R7462:Rufy1	UTSW	11	50,298,655 (GRCm39)	missense	possibly damaging	0.93
R7646:Rufy1	UTSW	11	50,301,436 (GRCm39)	missense	probably damaging	1.00
R7951:Rufy1	UTSW	11	50,321,736 (GRCm39)	missense	probably benign
R7971:Rufy1	UTSW	11	50,312,498 (GRCm39)	missense	probably damaging	1.00
R8308:Rufy1	UTSW	11	50,297,233 (GRCm39)	missense	probably benign	0.01
R8773:Rufy1	UTSW	11	50,321,796 (GRCm39)	missense	possibly damaging	0.74
R8934:Rufy1	UTSW	11	50,298,705 (GRCm39)	missense	probably benign	0.00
R9205:Rufy1	UTSW	11	50,289,301 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CCTGGCTGACTGACTGACTTATC -3'
(R):5'- TTCTGGGCTCTAGGGAAGAAC -3'

Sequencing Primer
(F):5'- GACTGACTGACTTATCAAGGCTGC -3'
(R):5'- GCTCTAGGGAAGAACAGCCATTAATC -3'

Posted On

2017-03-31