Mutagenetix > Incidental Mutation

Incidental Mutation 'R6930:Rufy1'

539967

Institutional Source

Beutler Lab

Gene Symbol

Rufy1

Ensembl Gene

ENSMUSG00000020375

Gene Name

RUN and FYVE domain containing 1

Synonyms

Rabip4, ZFYVE12, 3000002E04Rik

MMRRC Submission

045046-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.378) question?

Stock #

R6930 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

50280113-50321952 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 50289207 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 545 (R545L)

Ref Sequence

ENSEMBL: ENSMUSP00000020643 (fasta)

Gene Model

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

AlphaFold

Q8BIJ7

Predicted Effect

probably benign
Transcript: ENSMUST00000020643
AA Change: R545L

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000020643
Gene: ENSMUSG00000020375
AA Change: R545L

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

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 99.0%
20x: 96.5%

Validation Efficiency

100% (63/63)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	A	T	11: 23,466,563 (GRCm39)	D156E	probably benign	Het
Adam17	A	T	12: 21,403,949 (GRCm39)	V99E	probably damaging	Het
Akr1e1	T	C	13: 4,652,714 (GRCm39)	D41G	probably damaging	Het
Alcam	T	C	16: 52,126,018 (GRCm39)	I100V	probably benign	Het
Atr	T	C	9: 95,748,688 (GRCm39)	I411T	probably benign	Het
Bbs4	T	C	9: 59,230,764 (GRCm39)	S453G	probably benign	Het
Brdt	C	T	5: 107,507,081 (GRCm39)	L494F	probably benign	Het
Ccser1	T	C	6: 62,357,009 (GRCm39)	S816P	probably benign	Het
Cdk10	T	C	8: 123,957,347 (GRCm39)	I157T	probably damaging	Het
Ceacam5	G	A	7: 17,484,759 (GRCm39)		probably null	Het
Chst15	T	C	7: 131,870,759 (GRCm39)	I259V	possibly damaging	Het
Cracdl	A	T	1: 37,664,026 (GRCm39)	I624N	possibly damaging	Het
Csmd1	A	T	8: 16,142,409 (GRCm39)	M1498K	probably damaging	Het
D630045J12Rik	T	C	6: 38,135,151 (GRCm39)	D1343G	probably damaging	Het
Denr	T	C	5: 124,046,250 (GRCm39)	Y27H	probably benign	Het
Dop1a	T	C	9: 86,413,825 (GRCm39)		probably null	Het
Epg5	T	C	18: 78,057,378 (GRCm39)	F1819S	probably damaging	Het
Flg2	T	A	3: 93,108,642 (GRCm39)	Y223*	probably null	Het
Fry	T	C	5: 150,351,695 (GRCm39)	L1733P	probably benign	Het
Gabrb2	T	C	11: 42,488,440 (GRCm39)	V302A	probably damaging	Het
Gimap9	G	A	6: 48,654,601 (GRCm39)	D53N	probably damaging	Het
Gje1	G	T	10: 14,593,886 (GRCm39)	L3I	possibly damaging	Het
Gm49383	G	T	12: 69,239,586 (GRCm39)	A645E	probably damaging	Het
Gm8947	G	A	1: 151,068,347 (GRCm39)	G60D	probably damaging	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Gys2	A	G	6: 142,405,106 (GRCm39)		probably null	Het
Hace1	A	G	10: 45,494,598 (GRCm39)	H136R	probably damaging	Het
Herc3	T	G	6: 58,893,444 (GRCm39)	V902G	probably damaging	Het
Hspbp1	T	C	7: 4,687,606 (GRCm39)	R2G	probably benign	Het
Iqch	T	A	9: 63,387,856 (GRCm39)	K811N	possibly damaging	Het
Kmt2a	A	G	9: 44,753,962 (GRCm39)		probably benign	Het
Lonrf2	A	T	1: 38,843,417 (GRCm39)	V372D	probably benign	Het
Lpin2	T	C	17: 71,551,786 (GRCm39)	Y729H	probably damaging	Het
Lrrc32	A	G	7: 98,148,471 (GRCm39)	N417S	possibly damaging	Het
Malrd1	T	A	2: 15,802,478 (GRCm39)	C1064S	unknown	Het
Mast3	G	A	8: 71,252,115 (GRCm39)	R20*	probably null	Het
Mypn	A	C	10: 62,952,718 (GRCm39)	I174S	probably damaging	Het
Nrg1	G	A	8: 32,308,534 (GRCm39)	T505M	probably damaging	Het
Or13p8	A	G	4: 118,584,338 (GRCm39)	K298R	probably damaging	Het
Or6y1	A	G	1: 174,276,677 (GRCm39)	I163V	probably damaging	Het
Or7a42	A	G	10: 78,791,615 (GRCm39)	D192G	possibly damaging	Het
Or7e178	A	G	9: 20,225,395 (GRCm39)	Y266H	probably damaging	Het
Phf3	T	C	1: 30,850,958 (GRCm39)	E1132G	probably damaging	Het
Pla2g4d	A	T	2: 120,101,114 (GRCm39)	M521K	probably damaging	Het
Plekhg1	A	G	10: 3,913,770 (GRCm39)	H1164R	possibly damaging	Het
Plxnb2	A	G	15: 89,044,592 (GRCm39)	V1218A	probably benign	Het
Pold1	A	G	7: 44,191,630 (GRCm39)	S119P	probably benign	Het
Pole	T	A	5: 110,441,156 (GRCm39)	D203E	probably benign	Het
Rapgefl1	T	A	11: 98,737,947 (GRCm39)	L387Q	probably damaging	Het
Rbm33	T	C	5: 28,557,504 (GRCm39)	I199T	probably benign	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Ryr3	T	A	2: 112,690,699 (GRCm39)	D1117V	probably damaging	Het
Sap130	T	C	18: 31,815,141 (GRCm39)	V621A	possibly damaging	Het
Sparcl1	T	A	5: 104,234,940 (GRCm39)	Y525F	probably damaging	Het
Spon2	A	G	5: 33,373,771 (GRCm39)	V180A	probably benign	Het
Trav10n	G	A	14: 53,359,947 (GRCm39)	V75M	probably benign	Het
Ttc34	T	C	4: 154,923,543 (GRCm39)	L84P	probably damaging	Het
Vmn1r23	C	T	6: 57,903,130 (GRCm39)	R216K	probably benign	Het
Vmn2r61	A	G	7: 41,949,364 (GRCm39)	T595A	probably benign	Het
Vmn2r66	T	A	7: 84,661,216 (GRCm39)	I5F	possibly damaging	Het
Zfp879	C	T	11: 50,723,839 (GRCm39)	G406R	probably damaging	Het
Zic2	A	T	14: 122,713,869 (GRCm39)	D261V	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
R5966:Rufy1	UTSW	11	50,292,315 (GRCm39)	missense	probably benign
R6129:Rufy1	UTSW	11	50,308,075 (GRCm39)	missense	probably damaging	0.99
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'- TGGCTGGATACTGACTCGTC -3'
(R):5'- CTTTTAGTTACTAGAGGCGAGCC -3'

Sequencing Primer
(F):5'- GCTCAGTTGTCTTTGTAAACCAG -3'
(R):5'- GGCGAGCCTTTCCTTACAAAGATAG -3'

Posted On

2018-11-06