Mutagenetix > Incidental Mutations

Incidental Mutation 'R6254:Rufy3'

505970

Institutional Source

Beutler Lab

Gene Symbol

Rufy3

Ensembl Gene

ENSMUSG00000029291

Gene Name

RUN and FYVE domain containing 3

Synonyms

Rpipx, D5Bwg0860e, 2810428M05Rik, 6330416M07Rik

MMRRC Submission

044371-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6254 (G1)

Quality Score

205.009

Status

Validated

Chromosome

Chromosomal Location

88565040-88651392 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 88584309 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 57 (T57I)

Ref Sequence

ENSEMBL: ENSMUSP00000143115 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031229] [ENSMUST00000196686] [ENSMUST00000196894] [ENSMUST00000198965] [ENSMUST00000199312]

Predicted Effect

probably benign
Transcript: ENSMUST00000031229
AA Change: T57I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000031229
Gene: ENSMUSG00000029291
AA Change: T57I

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC
RUN	163	225	8.08e-23	SMART
coiled coil region	267	329	N/A	INTRINSIC
coiled coil region	357	464	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000196686
AA Change: T57I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000143209
Gene: ENSMUSG00000029291
AA Change: T57I

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC
RUN	181	243	8.08e-23	SMART
coiled coil region	285	347	N/A	INTRINSIC
coiled coil region	375	482	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000196894

SMART Domains

Protein: ENSMUSP00000143770
Gene: ENSMUSG00000029291

Domain	Start	End	E-Value	Type
low complexity region	2	34	N/A	INTRINSIC
low complexity region	84	107	N/A	INTRINSIC
RUN	213	275	8.08e-23	SMART
coiled coil region	317	379	N/A	INTRINSIC
coiled coil region	407	514	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197664

Predicted Effect

probably benign
Transcript: ENSMUST00000198965

SMART Domains

Protein: ENSMUSP00000143302
Gene: ENSMUSG00000029291

Domain	Start	End	E-Value	Type
low complexity region	2	34	N/A	INTRINSIC
low complexity region	84	107	N/A	INTRINSIC
RUN	213	275	2.8e-25	SMART
coiled coil region	317	379	N/A	INTRINSIC
coiled coil region	407	555	N/A	INTRINSIC
FYVE	597	662	2.9e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199207

Predicted Effect

probably benign
Transcript: ENSMUST00000199312
AA Change: T57I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000143115
Gene: ENSMUSG00000029291
AA Change: T57I

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC
RUN	181	243	8.08e-23	SMART
coiled coil region	285	347	N/A	INTRINSIC
coiled coil region	375	482	N/A	INTRINSIC

Meta Mutation Damage Score

0.0649

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.4%

Validation Efficiency

100% (82/82)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a RPIP8, UNC-14, and NESCA domain-containing protein that is required for maintenance of neuronal polarity. In addition, it has been implicated in mediation of gastric cancer cell migration and invasion via interaction with P21-activated kinase-1, which promotes its expression. The encoded protein localizes to F-actin-enriched invadopodia to induce formation of protrusions, thereby facilitating cell migration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
PHENOTYPE: The gene product is involved in regulating neuronal polarity and axon growth. Homozygous KO leads to loss of neuronal polarity and causes neonatal lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932443I19Rik	A	G	8: 13,706,043	D26G	possibly damaging	Het
Adam6b	A	T	12: 113,489,570	L2F	probably damaging	Het
Ank2	T	A	3: 126,941,804		probably benign	Het
Anpep	T	G	7: 79,839,233	D369A	probably damaging	Het
App	T	C	16: 84,978,177	E599G	probably damaging	Het
Asphd1	C	T	7: 126,948,868	V88I	probably benign	Het
Atad5	A	T	11: 80,127,389	I1389F	probably damaging	Het
Blm	T	C	7: 80,480,342	N950S	probably benign	Het
Bsn	A	T	9: 108,111,866	M2229K	probably damaging	Het
Cacna2d2	A	G	9: 107,509,216	M181V	probably benign	Het
Cadps2	T	A	6: 23,329,163		probably null	Het
Cdh1	T	A	8: 106,663,798	V590D	probably damaging	Het
Cdk5rap2	G	A	4: 70,364,032	T160M	probably damaging	Het
Chrna5	A	G	9: 55,006,456	M325V	probably benign	Het
Clca3a2	A	G	3: 144,802,134	I116T	probably benign	Het
Cyp2c23	T	C	19: 44,005,463	K488R	probably benign	Het
Edil3	T	A	13: 89,319,729	I451N	probably damaging	Het
Exph5	T	G	9: 53,372,710	S364A	possibly damaging	Het
Fam84b	A	G	15: 60,823,801	I32T	probably damaging	Het
Fam98c	A	G	7: 29,154,517	S209P	probably damaging	Het
Fat3	G	A	9: 15,996,145	L2854F	probably benign	Het
Fbxo38	T	C	18: 62,505,500		probably null	Het
Fermt2	T	C	14: 45,476,059	D205G	probably damaging	Het
Fmnl1	G	A	11: 103,196,315		probably benign	Het
Fn3k	A	G	11: 121,435,068	E27G	probably damaging	Het
Foxj2	A	G	6: 122,838,139	H378R	probably damaging	Het
Fubp1	A	G	3: 152,232,408	K140E	possibly damaging	Het
Gm4788	A	G	1: 139,754,390	I156T	probably damaging	Het
Gm7694	A	T	1: 170,302,534	C98*	probably null	Het
Golgb1	T	C	16: 36,913,978	S1196P	probably damaging	Het
Gpm6a	G	A	8: 55,047,396		probably null	Het
Hltf	T	A	3: 20,063,829	N80K	possibly damaging	Het
Il1rap	G	A	16: 26,695,270	R251H	probably benign	Het
Ipo7	T	A	7: 110,049,060	D688E	probably benign	Het
Itgal	T	A	7: 127,325,203	N897K	probably damaging	Het
Itsn2	A	G	12: 4,624,982		probably null	Het
Kcnk13	A	G	12: 99,965,372		probably benign	Het
Kdm7a	A	G	6: 39,170,269	L248P	probably damaging	Het
Kmt2c	T	C	5: 25,349,874	E1254G	possibly damaging	Het
Ldah	G	A	12: 8,275,912		probably benign	Het
Lingo1	T	A	9: 56,620,087	D406V	possibly damaging	Het
Lrriq1	A	T	10: 103,215,451	V480E	probably benign	Het
Mtcl1	C	T	17: 66,358,134	R1142H	probably benign	Het
Mtmr3	G	A	11: 4,497,381	Q360*	probably null	Het
Muc6	T	C	7: 141,651,115	N252S	probably benign	Het
Naa20	T	C	2: 145,903,320	L4P	probably damaging	Het
Neb	T	A	2: 52,222,961	I4274L	probably benign	Het
Noa1	A	T	5: 77,309,669	F130I	probably benign	Het
Nrg4	G	T	9: 55,236,512	H87N	possibly damaging	Het
Olfr1024	T	A	2: 85,904,505	Y183F	probably damaging	Het
Olfr632	T	A	7: 103,937,534	H51Q	probably benign	Het
P3h3	C	T	6: 124,845,601	E536K	probably damaging	Het
Pcdhb11	T	C	18: 37,421,718	S34P	probably damaging	Het
Pik3r1	T	C	13: 101,689,406	T71A	possibly damaging	Het
Plaur	T	A	7: 24,466,800	C99S	possibly damaging	Het
Plekha5	G	A	6: 140,586,436	G501E	probably damaging	Het
Plxnd1	C	T	6: 115,977,960	V614M	probably benign	Het
Ppp2r3a	T	C	9: 101,148,587	D307G	possibly damaging	Het
Prl3d3	C	T	13: 27,157,470	S28F	possibly damaging	Het
Prpf40a	T	C	2: 53,157,915	M197V	probably benign	Het
Ptk7	C	A	17: 46,572,642	Q832H	probably damaging	Het
Qser1	T	C	2: 104,790,090	S126G	probably benign	Het
Rab3ip	A	T	10: 116,915,867	C332S	probably damaging	Het
Raly	C	A	2: 154,857,366	T30K	probably damaging	Het
Rbp2	G	T	9: 98,490,647	S13I	probably benign	Het
Rps6ka1	C	T	4: 133,867,224	M159I	possibly damaging	Het
Samd4	A	G	14: 47,016,631	D184G	probably damaging	Het
Slc35f3	T	C	8: 126,321,094	C58R	possibly damaging	Het
Smarca4	T	C	9: 21,699,877	I1467T	probably damaging	Het
Spag17	T	G	3: 100,065,585	I1371S	probably benign	Het
Sptan1	T	C	2: 30,007,549	L1228P	possibly damaging	Het
Stk31	C	T	6: 49,421,697	A344V	probably benign	Het
Supt16	A	G	14: 52,170,834	W885R	probably damaging	Het
Tdrd9	T	A	12: 112,025,900		probably null	Het
Tmod1	A	G	4: 46,078,469		probably null	Het
Tnfsf13	A	C	11: 69,684,483		probably null	Het
Trim75	C	A	8: 64,983,442	E119*	probably null	Het
Wdr6	T	C	9: 108,574,911	Y591C	probably damaging	Het
Wdr86	C	T	5: 24,718,283	R137H	probably benign	Het
Ythdf1	T	A	2: 180,911,150	Y424F	probably damaging	Het
Zfp984	G	T	4: 147,756,186	S69R	possibly damaging	Het
Zyg11a	A	G	4: 108,181,794	F743L	probably damaging	Het

Other mutations in Rufy3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00705:Rufy3	APN	5	88621350	missense	probably damaging	0.96
IGL01964:Rufy3	APN	5	88615070	missense	probably damaging	1.00
IGL02537:Rufy3	APN	5	88640662	utr 3 prime	probably benign
R0111:Rufy3	UTSW	5	88630584	missense	probably damaging	1.00
R0552:Rufy3	UTSW	5	88584270	missense	possibly damaging	0.79
R1441:Rufy3	UTSW	5	88632515	missense	probably damaging	0.97
R1565:Rufy3	UTSW	5	88640632	missense	probably damaging	1.00
R2507:Rufy3	UTSW	5	88649898	missense	probably damaging	1.00
R2508:Rufy3	UTSW	5	88649898	missense	probably damaging	1.00
R3707:Rufy3	UTSW	5	88643032	missense	probably benign	0.28
R4907:Rufy3	UTSW	5	88584192	missense	possibly damaging	0.95
R4999:Rufy3	UTSW	5	88637226	missense	probably damaging	1.00
R5134:Rufy3	UTSW	5	88645567	missense	probably benign	0.01
R5420:Rufy3	UTSW	5	88640659	makesense	probably null
R5482:Rufy3	UTSW	5	88637332	frame shift	probably null
R6029:Rufy3	UTSW	5	88627255	missense	probably damaging	1.00
R6444:Rufy3	UTSW	5	88637307	missense	probably damaging	1.00
R7219:Rufy3	UTSW	5	88649856	missense	probably benign	0.22
R7256:Rufy3	UTSW	5	88614947	missense	possibly damaging	0.91
R7327:Rufy3	UTSW	5	88642952	missense	probably damaging	0.99
R7352:Rufy3	UTSW	5	88637194	missense	possibly damaging	0.92
R7484:Rufy3	UTSW	5	88598472	missense	probably benign	0.01
R7645:Rufy3	UTSW	5	88640617	missense	probably benign	0.01
R7953:Rufy3	UTSW	5	88642992	missense	probably benign	0.01
R8043:Rufy3	UTSW	5	88642992	missense	probably benign	0.01
R8478:Rufy3	UTSW	5	88615036	missense	probably damaging	1.00
X0066:Rufy3	UTSW	5	88617418	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- TCGCAGCTGACTCATCATGTC -3'
(R):5'- ACATAAGCTCTTGAGACCTCAGG -3'

Sequencing Primer
(F):5'- ATCATGTCTGCCCTGACGC -3'
(R):5'- GGGTAGAGAAGAATCTTTTCCCC -3'

Posted On

2018-02-28