Mutagenetix > Incidental Mutation

Incidental Mutation 'R7462:Rufy1'

578516

Institutional Source

Beutler Lab

Gene Symbol

Rufy1

Ensembl Gene

ENSMUSG00000020375

Gene Name

RUN and FYVE domain containing 1

Synonyms

Rabip4, ZFYVE12, 3000002E04Rik

MMRRC Submission

045536-MU

Accession Numbers

Essential gene?

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

Stock #

R7462 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

50280113-50321952 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 50298655 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 379 (V379M)

Ref Sequence

ENSEMBL: ENSMUSP00000020643 (fasta)

Gene Model

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

AlphaFold

Q8BIJ7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020643
AA Change: V379M

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000020643
Gene: ENSMUSG00000020375
AA Change: V379M

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: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (60/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank2	G	C	3: 126,736,683 (GRCm39)	T3067S	unknown	Het
Ankrd28	T	C	14: 31,500,886 (GRCm39)	N35S	probably benign	Het
Bicra	A	T	7: 15,713,060 (GRCm39)	S996T	possibly damaging	Het
Btbd7	T	C	12: 102,803,981 (GRCm39)	E353G	possibly damaging	Het
Cdhr2	A	T	13: 54,874,552 (GRCm39)	I875F	probably damaging	Het
Ceacam5	A	T	7: 17,494,764 (GRCm39)	Y924F	probably damaging	Het
Clca4b	A	G	3: 144,628,621 (GRCm39)	I362T	probably benign	Het
Dchs2	A	G	3: 83,253,462 (GRCm39)		probably null	Het
Dlc1	T	A	8: 37,405,118 (GRCm39)	T224S	unknown	Het
Dmxl2	T	C	9: 54,273,916 (GRCm39)		probably null	Het
Dnajc1	A	G	2: 18,313,710 (GRCm39)	F137S	probably damaging	Het
E130311K13Rik	T	C	3: 63,836,722 (GRCm39)	T24A	probably benign	Het
Eya1	T	C	1: 14,301,638 (GRCm39)	E317G	probably null	Het
Fpr-rs6	A	G	17: 20,402,485 (GRCm39)	L292P	probably damaging	Het
Gca	G	T	2: 62,502,753 (GRCm39)	D54Y	possibly damaging	Het
Gm45861	G	A	8: 28,024,517 (GRCm39)		probably null	Het
Gm57858	T	A	3: 36,080,055 (GRCm39)		probably null	Het
Gtf2a1l	A	G	17: 89,001,566 (GRCm39)	T141A	possibly damaging	Het
Hgsnat	T	C	8: 26,447,241 (GRCm39)	N351S	probably benign	Het
Htr1f	A	T	16: 64,746,383 (GRCm39)	V303E	probably damaging	Het
Iars2	C	A	1: 185,055,063 (GRCm39)	W302L	probably damaging	Het
Igkv4-74	T	A	6: 69,162,100 (GRCm39)	Q23L	possibly damaging	Het
Il18	A	T	9: 50,476,673 (GRCm39)		probably benign	Het
Ints4	A	G	7: 97,155,335 (GRCm39)	D329G	probably benign	Het
Itsn1	T	C	16: 91,650,073 (GRCm39)	F249S	possibly damaging	Het
Ktn1	A	G	14: 47,932,089 (GRCm39)	E672G	probably null	Het
Lhx6	A	G	2: 35,974,083 (GRCm39)	I359T	possibly damaging	Het
Lrp1b	T	C	2: 41,003,041 (GRCm39)	E2030G		Het
Macf1	T	A	4: 123,386,556 (GRCm39)	K1114N	probably damaging	Het
Mbd5	A	G	2: 49,147,892 (GRCm39)	M701V	possibly damaging	Het
Mcemp1	A	T	8: 3,717,065 (GRCm39)	M69L	probably benign	Het
Mfsd4b2	T	A	10: 39,797,877 (GRCm39)	K159N	probably benign	Het
Mroh2b	T	A	15: 4,938,109 (GRCm39)	D243E	probably damaging	Het
Muc21	T	C	17: 35,931,568 (GRCm39)	S873G	unknown	Het
Mug1	A	T	6: 121,852,399 (GRCm39)	Q829L	probably benign	Het
Nav3	A	T	10: 109,659,439 (GRCm39)	V726E	probably damaging	Het
Nfib	T	C	4: 82,271,826 (GRCm39)	Q247R	probably benign	Het
Npbwr1	T	C	1: 5,987,151 (GRCm39)	N121S	probably damaging	Het
Or1e19	T	C	11: 73,316,296 (GRCm39)	D171G	probably benign	Het
Or52b2	T	A	7: 104,986,707 (GRCm39)	D72V	probably damaging	Het
Or5h19	A	T	16: 58,856,379 (GRCm39)	C240*	probably null	Het
Pkd1l3	A	G	8: 110,355,409 (GRCm39)	S726G	probably benign	Het
Ppip5k1	A	T	2: 121,167,232 (GRCm39)	V847D	probably damaging	Het
Ptpn18	G	A	1: 34,512,445 (GRCm39)	D417N	possibly damaging	Het
Ripor2	G	A	13: 24,880,290 (GRCm39)	V385M	unknown	Het
S100a5	A	G	3: 90,517,207 (GRCm39)	K26R	probably damaging	Het
Sin3a	T	C	9: 57,002,809 (GRCm39)	S234P	probably benign	Het
Sirt7	G	A	11: 120,511,618 (GRCm39)	T225I	probably benign	Het
Slc34a1	A	T	13: 24,006,401 (GRCm39)	T476S	probably damaging	Het
Slc38a6	T	A	12: 73,397,351 (GRCm39)	M331K	probably benign	Het
Spam1	T	C	6: 24,796,907 (GRCm39)	I286T	probably damaging	Het
Syne1	T	A	10: 5,002,793 (GRCm39)	I214F	possibly damaging	Het
Tmtc1	A	G	6: 148,226,643 (GRCm39)	L427P	probably damaging	Het
Tpbg	G	A	9: 85,726,903 (GRCm39)	A291T	possibly damaging	Het
Zfp40	A	G	17: 23,397,362 (GRCm39)	F45S	possibly damaging	Het
Zfp451	C	T	1: 33,816,094 (GRCm39)	V619M	probably damaging	Het
Zim1	A	G	7: 6,680,811 (GRCm39)	L284P	probably damaging	Het
Zkscan4	A	G	13: 21,668,044 (GRCm39)	E165G	probably benign	Het
Zmynd11	T	A	13: 9,748,720 (GRCm39)	N154Y	probably benign	Het
Zscan12	A	T	13: 21,553,457 (GRCm39)	H427L	possibly 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
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
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'- GAAGCTTTACCTCATGATGCC -3'
(R):5'- CGCATCATAAGCTGTGCAGG -3'

Sequencing Primer
(F):5'- TTACCTCATGATGCCAAGGG -3'
(R):5'- CATCATAAGCTGTGCAGGAGCTC -3'

Posted On

2019-10-07