Mutagenetix > Incidental Mutations

Incidental Mutation 'R7645:Rufy3'

590475

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

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7645 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88565040-88651392 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88640617 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 506 (T506A)

Ref Sequence

ENSEMBL: ENSMUSP00000143770 (fasta)

Gene Model

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

AlphaFold

Q9D394

Predicted Effect

probably benign
Transcript: ENSMUST00000031229
AA Change: T456A

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

SMART Domains

Protein: ENSMUSP00000031229
Gene: ENSMUSG00000029291
AA Change: T456A

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: T474A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000143209
Gene: ENSMUSG00000029291
AA Change: T474A

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
AA Change: T506A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000143770
Gene: ENSMUSG00000029291
AA Change: T506A

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

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

probably benign
Transcript: ENSMUST00000199312
AA Change: T474A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000143115
Gene: ENSMUSG00000029291
AA Change: T474A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (46/47)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actbl2	T	A	13: 111,256,255	C375S	probably benign	Het
Adgrg3	A	G	8: 95,034,764		probably benign	Het
Amn1	C	T	6: 149,185,031	M44I	probably benign	Het
Atg2b	T	C	12: 105,623,430	Y1854C	probably benign	Het
Bcat2	T	A	7: 45,587,963	N290K	probably benign	Het
Ccdc39	T	C	3: 33,825,169		probably null	Het
Cnot10	T	C	9: 114,613,637	S501G	probably benign	Het
Col6a6	A	G	9: 105,767,198		probably null	Het
Coq2	A	C	5: 100,660,250	C228W	probably damaging	Het
Cpt2	A	T	4: 107,906,974	M531K	possibly damaging	Het
Dennd1a	A	G	2: 38,021,363	L204P	probably damaging	Het
Dirc2	T	A	16: 35,734,068		probably null	Het
Dock9	C	T	14: 121,597,663	V1305M	probably benign	Het
Dusp16	A	G	6: 134,725,925	I201T	probably damaging	Het
Esco2	T	C	14: 65,827,181	D370G	probably benign	Het
Fbxl4	T	C	4: 22,377,037	S158P	probably damaging	Het
Fut10	A	G	8: 31,236,204	H329R	possibly damaging	Het
Gm10436	T	C	12: 88,176,258	T392A	probably damaging	Het
Gpr3	A	G	4: 133,211,329	W11R	probably damaging	Het
H2-M3	T	A	17: 37,270,729	I94N	probably damaging	Het
Krt7	T	C	15: 101,412,643	I57T	probably damaging	Het
Ltc4s	T	C	11: 50,238,546		probably benign	Het
Ms4a6b	A	T	19: 11,523,940	T105S	probably damaging	Het
Muc6	T	C	7: 141,648,658	H592R	probably benign	Het
Ncam1	T	C	9: 49,565,003	E262G	probably benign	Het
Olfr1265	T	A	2: 90,037,747	I276K	possibly damaging	Het
Olfr1462	T	C	19: 13,191,573	V302A	probably benign	Het
Plxnb1	T	A	9: 109,114,412	S1908T	probably damaging	Het
Polg2	A	T	11: 106,775,593	M242K	probably benign	Het
Polr3g	T	C	13: 81,694,444	T151A	unknown	Het
Psmb8	T	C	17: 34,200,212	L160P	possibly damaging	Het
Rab5b	G	A	10: 128,681,391	A176V	possibly damaging	Het
Rreb1	T	C	13: 37,931,034	C790R	probably damaging	Het
Samd11	T	C	4: 156,255,183		probably benign	Het
Slc12a2	T	C	18: 57,896,378	F279L	possibly damaging	Het
Son	TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCAGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,660,295		probably benign	Het
Srgn	C	T	10: 62,494,978	W116*	probably null	Het
Svil	A	G	18: 5,099,663	E1733G	probably damaging	Het
Tbc1d22a	C	T	15: 86,235,541	P49S	probably benign	Het
Tbc1d9	A	T	8: 83,242,553	K490M	probably damaging	Het
Tcte1	A	G	17: 45,534,989	N173S	probably benign	Het
Tmco6	C	T	18: 36,735,393	R31W	probably damaging	Het
Ttn	C	A	2: 76,899,681	A5155S	unknown	Het
Tyro3	T	C	2: 119,816,906	Y839H	probably damaging	Het
Zc3h12d	A	G	10: 7,867,576	D370G	probably benign	Het
Zc3h7b	T	C	15: 81,780,602	L554P	probably damaging	Het
Zfp352	C	T	4: 90,224,777	P385S	probably benign	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
R6254:Rufy3	UTSW	5	88584309	missense	probably benign	0.01
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
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
R8549:Rufy3	UTSW	5	88647214	splice site	probably null
R9112:Rufy3	UTSW	5	88632477	missense
R9399:Rufy3	UTSW	5	88649866	missense	possibly damaging	0.92
R9438:Rufy3	UTSW	5	88648265	missense	probably benign	0.00
X0066:Rufy3	UTSW	5	88617418	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- TCCTCAGTGAGTTTTAACTTGGC -3'
(R):5'- CATACCAAAATTCTAACTCTGGGG -3'

Sequencing Primer
(F):5'- GAGTTTTAACTTGGCATTAAGGCC -3'
(R):5'- CAAAATTCTAACTCTGGGGGTGCG -3'

Posted On

2019-10-24