Mutagenetix > Incidental Mutation

Incidental Mutation 'R9205:Rufy1'

698461

Institutional Source

Beutler Lab

Gene Symbol

Rufy1

Ensembl Gene

ENSMUSG00000020375

Gene Name

RUN and FYVE domain containing 1

Synonyms

ZFYVE12, 3000002E04Rik, Rabip4

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.383) question?

Stock #

R9205 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

50389286-50431125 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 50398474 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 514 (R514W)

Ref Sequence

ENSEMBL: ENSMUSP00000020643 (fasta)

Gene Model

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

AlphaFold

Q8BIJ7

Predicted Effect

probably damaging
Transcript: ENSMUST00000020643
AA Change: R514W

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000020643
Gene: ENSMUSG00000020375
AA Change: R514W

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: 99.9%
10x: 99.6%
20x: 98.3%

Validation Efficiency

95% (76/80)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp2	T	A	6: 140,642,228	H341Q	probably damaging	Het
Apob	G	A	12: 7,980,635	A125T	probably damaging	Het
Bace2	G	T	16: 97,356,859	A20S	unknown	Het
Bcar1	T	C	8: 111,715,709	Y238C	probably damaging	Het
Brinp3	A	T	1: 146,902,089	D758V	possibly damaging	Het
Btnl10	T	C	11: 58,920,519	S223P	probably damaging	Het
Cckar	C	T	5: 53,707,245		probably null	Het
Cdhr2	A	G	13: 54,713,988	N66S	probably benign	Het
Chd9	A	G	8: 91,030,642	M1890V	probably benign	Het
Col6a5	C	T	9: 105,878,638	G2196R	probably damaging	Het
Col9a1	T	G	1: 24,185,094	M119R	unknown	Het
Cryaa	A	G	17: 31,679,668	H123R	probably damaging	Het
Cux1	A	T	5: 136,370,135	D171E	probably damaging	Het
Dgkz	T	A	2: 91,933,799	T1067S	probably benign	Het
Dnah11	C	T	12: 118,027,516	E2372K	probably damaging	Het
Dnah5	T	C	15: 28,448,334	M4181T	possibly damaging	Het
Dnajb14	A	G	3: 137,908,384	E352G	possibly damaging	Het
Dnmt3l	T	A	10: 78,056,752		probably null	Het
Dph6	T	C	2: 114,569,514	I117V	probably damaging	Het
Dsg1a	A	G	18: 20,340,171	D767G	probably damaging	Het
Edn3	C	T	2: 174,761,689	P77S	possibly damaging	Het
Elmsan1	A	C	12: 84,152,887	F1020V	probably benign	Het
Fbln7	A	C	2: 128,895,248	S328R	probably null	Het
Fbn2	T	C	18: 58,059,356	R1518G	probably damaging	Het
Foxi2	A	T	7: 135,411,796	T252S	probably benign	Het
Foxred2	A	G	15: 77,952,006	S384P	probably damaging	Het
Gdpd1	G	A	11: 87,045,183	H174Y	probably benign	Het
Gm10542	A	C	18: 44,204,638	D61A	possibly damaging	Het
Gm10563	TTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTC	4: 155,635,850		probably benign	Het
H2-Ab1	A	G	17: 34,265,007	E114G	probably damaging	Het
Htt	C	T	5: 34,819,023	T723M	probably benign	Het
Igfn1	C	T	1: 135,975,957	V348I	probably damaging	Het
Itpr1	T	A	6: 108,489,849	L2173Q	probably damaging	Het
Lamp5	A	G	2: 136,059,601	Y115C	probably damaging	Het
Lrp1	T	A	10: 127,594,981	K400*	probably null	Het
Man2a2	C	T	7: 80,361,120	V708I	probably benign	Het
Matr3	T	C	18: 35,587,721	S746P	probably benign	Het
Me1	C	T	9: 86,598,794	V353M	probably benign	Het
Nbeal1	T	A	1: 60,278,680	D1925E	probably damaging	Het
Oca2	T	A	7: 56,316,420	F387I	probably damaging	Het
Olfr1163	T	A	2: 88,070,434	H316L	probably benign	Het
Olfr181	T	G	16: 58,926,122	I150L	probably benign	Het
Olfr181	G	T	16: 58,926,123	F149L	probably benign	Het
Olfr212	T	A	6: 116,516,354	N192K	probably benign	Het
Olfr420	T	C	1: 174,158,890	I39T	probably benign	Het
Olfr912	T	A	9: 38,582,077	S267T	probably benign	Het
Opn3	G	T	1: 175,663,089	N335K	probably benign	Het
Osm	A	G	11: 4,238,504	N44D	possibly damaging	Het
Otop2	T	C	11: 115,329,086	Y251H	probably damaging	Het
Pappa	T	C	4: 65,156,375	S389P	possibly damaging	Het
Polr1d	C	T	5: 147,101,258	A19V	probably damaging	Het
Ptchd4	G	A	17: 42,503,385	V726M	probably benign	Het
Pzp	T	A	6: 128,496,663	D731V	probably benign	Het
Rgl2	A	T	17: 33,936,028	I669F	probably damaging	Het
Rpl38	T	C	11: 114,672,288	*71R	probably null	Het
Ruvbl2	G	A	7: 45,434,317		probably benign	Het
Scn9a	T	G	2: 66,533,313	I874L	probably damaging	Het
Slc14a2	A	G	18: 78,195,736	S85P	probably benign	Het
Slc17a1	A	G	13: 23,878,811	I287V	probably benign	Het
Slc35f3	T	A	8: 126,389,189	I285N	probably damaging	Het
Slx4	A	G	16: 3,988,063	S542P	possibly damaging	Het
Sox30	A	T	11: 46,017,353	L782F	probably damaging	Het
Sspo	A	G	6: 48,455,872	N894S	probably benign	Het
Syne1	G	A	10: 5,202,013	Q5765*	probably null	Het
Taar7e	T	C	10: 24,038,074	I154T	probably benign	Het
Tars	A	G	15: 11,397,179		probably null	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,160,856		probably null	Het
Tmem198b	A	T	10: 128,803,188	C29S	probably damaging	Het
Tnr	A	C	1: 159,895,047	M1021L	probably benign	Het
Tom1l1	G	A	11: 90,657,818	P309L	probably damaging	Het
Traf4	A	G	11: 78,161,101	S186P	probably benign	Het
Trpm1	T	G	7: 64,240,571	V974G	possibly damaging	Het
Tsga10	T	A	1: 37,841,278		probably benign	Het
Tyw1	G	A	5: 130,269,224	R202Q	probably damaging	Het
Vmn2r93	A	T	17: 18,304,019	I92F	probably damaging	Het
Zfp457	A	T	13: 67,293,901	D203E	probably benign	Het
Zfp518b	G	A	5: 38,674,158	S168F	probably damaging	Het
Zfp7	TGCGGGAAAGGTTTCCACCTGAGCG	TGCG	15: 76,890,600		probably benign	Het
Zfp777	G	A	6: 48,025,587	T523M	probably benign	Het

Other mutations in Rufy1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01131:Rufy1	APN	11	50392023	missense	probably damaging	1.00
IGL01640:Rufy1	APN	11	50390378	unclassified	probably benign
IGL01829:Rufy1	APN	11	50416244	nonsense	probably null
IGL02559:Rufy1	APN	11	50420483	missense	probably damaging	1.00
IGL03409:Rufy1	APN	11	50406483	missense	probably benign	0.00
R0053:Rufy1	UTSW	11	50401465	missense	probably benign	0.10
R0053:Rufy1	UTSW	11	50401465	missense	probably benign	0.10
R0193:Rufy1	UTSW	11	50389852	missense	probably benign	0.12
R1028:Rufy1	UTSW	11	50414598	splice site	probably null
R1591:Rufy1	UTSW	11	50394928	missense	probably damaging	1.00
R1818:Rufy1	UTSW	11	50414572	missense	probably benign	0.43
R1952:Rufy1	UTSW	11	50406406	missense	probably benign	0.01
R2228:Rufy1	UTSW	11	50397784	splice site	probably null
R2982:Rufy1	UTSW	11	50419708	missense	possibly damaging	0.77
R4837:Rufy1	UTSW	11	50401493	missense	probably damaging	0.96
R4874:Rufy1	UTSW	11	50406450	missense	possibly damaging	0.80
R4959:Rufy1	UTSW	11	50401488	missense	probably benign
R4968:Rufy1	UTSW	11	50410607	missense	probably benign	0.01
R5204:Rufy1	UTSW	11	50406434	missense	probably damaging	1.00
R5426:Rufy1	UTSW	11	50421734	missense	probably damaging	1.00
R5966:Rufy1	UTSW	11	50401488	missense	probably benign
R6129:Rufy1	UTSW	11	50417248	missense	probably damaging	0.99
R6930:Rufy1	UTSW	11	50398380	missense	probably benign	0.05
R7073:Rufy1	UTSW	11	50404463	missense	probably benign	0.05
R7462:Rufy1	UTSW	11	50407828	missense	possibly damaging	0.93
R7646:Rufy1	UTSW	11	50410609	missense	probably damaging	1.00
R7951:Rufy1	UTSW	11	50430909	missense	probably benign
R7971:Rufy1	UTSW	11	50421671	missense	probably damaging	1.00
R8308:Rufy1	UTSW	11	50406406	missense	probably benign	0.01
R8773:Rufy1	UTSW	11	50430969	missense	possibly damaging	0.74
R8934:Rufy1	UTSW	11	50407878	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCAGGTGAGGGACTGTCTATC -3'
(R):5'- TCTGTCATCGCATAGCTGCC -3'

Sequencing Primer
(F):5'- AGGTGAGGGACTGTCTATCTCCTAC -3'
(R):5'- CAGTCTGAACTAGGTAGCAACTTC -3'

Posted On

2022-02-07