Mutagenetix > Incidental Mutation

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, 6330416M07Rik, 2810428M05Rik

MMRRC Submission

044371-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6254 (G1)

Quality Score

205.009

Status

Validated

Chromosome

Chromosomal Location

88712899-88799251 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 88732168 bp (GRCm39)

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]

AlphaFold

Q9D394

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
Adam6b	A	T	12: 113,453,190 (GRCm39)	L2F	probably damaging	Het
Ank2	T	A	3: 126,735,453 (GRCm39)		probably benign	Het
Anpep	T	G	7: 79,488,981 (GRCm39)	D369A	probably damaging	Het
App	T	C	16: 84,775,065 (GRCm39)	E599G	probably damaging	Het
Asphd1	C	T	7: 126,548,040 (GRCm39)	V88I	probably benign	Het
Atad5	A	T	11: 80,018,215 (GRCm39)	I1389F	probably damaging	Het
Blm	T	C	7: 80,130,090 (GRCm39)	N950S	probably benign	Het
Bsn	A	T	9: 107,989,065 (GRCm39)	M2229K	probably damaging	Het
Cacna2d2	A	G	9: 107,386,415 (GRCm39)	M181V	probably benign	Het
Cadps2	T	A	6: 23,329,162 (GRCm39)		probably null	Het
Cdh1	T	A	8: 107,390,430 (GRCm39)	V590D	probably damaging	Het
Cdk5rap2	G	A	4: 70,282,269 (GRCm39)	T160M	probably damaging	Het
Cfap97d2	A	G	8: 13,756,043 (GRCm39)	D26G	possibly damaging	Het
Cfhr4	A	G	1: 139,682,128 (GRCm39)	I156T	probably damaging	Het
Chrna5	A	G	9: 54,913,740 (GRCm39)	M325V	probably benign	Het
Clca3a2	A	G	3: 144,507,895 (GRCm39)	I116T	probably benign	Het
Cyp2c23	T	C	19: 43,993,902 (GRCm39)	K488R	probably benign	Het
Edil3	T	A	13: 89,467,848 (GRCm39)	I451N	probably damaging	Het
Exph5	T	G	9: 53,284,010 (GRCm39)	S364A	possibly damaging	Het
Fam98c	A	G	7: 28,853,942 (GRCm39)	S209P	probably damaging	Het
Fat3	G	A	9: 15,907,441 (GRCm39)	L2854F	probably benign	Het
Fbxo38	T	C	18: 62,638,571 (GRCm39)		probably null	Het
Fermt2	T	C	14: 45,713,516 (GRCm39)	D205G	probably damaging	Het
Fmnl1	G	A	11: 103,087,141 (GRCm39)		probably benign	Het
Fn3k	A	G	11: 121,325,894 (GRCm39)	E27G	probably damaging	Het
Foxj2	A	G	6: 122,815,098 (GRCm39)	H378R	probably damaging	Het
Fubp1	A	G	3: 151,938,045 (GRCm39)	K140E	possibly damaging	Het
Gm7694	A	T	1: 170,130,103 (GRCm39)	C98*	probably null	Het
Golgb1	T	C	16: 36,734,340 (GRCm39)	S1196P	probably damaging	Het
Gpm6a	G	A	8: 55,500,431 (GRCm39)		probably null	Het
Hltf	T	A	3: 20,117,993 (GRCm39)	N80K	possibly damaging	Het
Il1rap	G	A	16: 26,514,020 (GRCm39)	R251H	probably benign	Het
Ipo7	T	A	7: 109,648,267 (GRCm39)	D688E	probably benign	Het
Itgal	T	A	7: 126,924,375 (GRCm39)	N897K	probably damaging	Het
Itsn2	A	G	12: 4,674,982 (GRCm39)		probably null	Het
Kcnk13	A	G	12: 99,931,631 (GRCm39)		probably benign	Het
Kdm7a	A	G	6: 39,147,203 (GRCm39)	L248P	probably damaging	Het
Kmt2c	T	C	5: 25,554,872 (GRCm39)	E1254G	possibly damaging	Het
Ldah	G	A	12: 8,325,912 (GRCm39)		probably benign	Het
Lingo1	T	A	9: 56,527,371 (GRCm39)	D406V	possibly damaging	Het
Lratd2	A	G	15: 60,695,650 (GRCm39)	I32T	probably damaging	Het
Lrriq1	A	T	10: 103,051,312 (GRCm39)	V480E	probably benign	Het
Mtcl1	C	T	17: 66,665,129 (GRCm39)	R1142H	probably benign	Het
Mtmr3	G	A	11: 4,447,381 (GRCm39)	Q360*	probably null	Het
Muc6	T	C	7: 141,237,380 (GRCm39)	N252S	probably benign	Het
Naa20	T	C	2: 145,745,240 (GRCm39)	L4P	probably damaging	Het
Neb	T	A	2: 52,112,973 (GRCm39)	I4274L	probably benign	Het
Noa1	A	T	5: 77,457,516 (GRCm39)	F130I	probably benign	Het
Nrg4	G	T	9: 55,143,796 (GRCm39)	H87N	possibly damaging	Het
Or51ai2	T	A	7: 103,586,741 (GRCm39)	H51Q	probably benign	Het
Or5m12	T	A	2: 85,734,849 (GRCm39)	Y183F	probably damaging	Het
P3h3	C	T	6: 124,822,564 (GRCm39)	E536K	probably damaging	Het
Pcdhb11	T	C	18: 37,554,771 (GRCm39)	S34P	probably damaging	Het
Pik3r1	T	C	13: 101,825,914 (GRCm39)	T71A	possibly damaging	Het
Plaur	T	A	7: 24,166,225 (GRCm39)	C99S	possibly damaging	Het
Plekha5	G	A	6: 140,532,162 (GRCm39)	G501E	probably damaging	Het
Plxnd1	C	T	6: 115,954,921 (GRCm39)	V614M	probably benign	Het
Ppp2r3d	T	C	9: 101,025,786 (GRCm39)	D307G	possibly damaging	Het
Prl3d3	C	T	13: 27,341,453 (GRCm39)	S28F	possibly damaging	Het
Prpf40a	T	C	2: 53,047,927 (GRCm39)	M197V	probably benign	Het
Ptk7	C	A	17: 46,883,568 (GRCm39)	Q832H	probably damaging	Het
Qser1	T	C	2: 104,620,435 (GRCm39)	S126G	probably benign	Het
Rab3ip	A	T	10: 116,751,772 (GRCm39)	C332S	probably damaging	Het
Raly	C	A	2: 154,699,286 (GRCm39)	T30K	probably damaging	Het
Rbp2	G	T	9: 98,372,700 (GRCm39)	S13I	probably benign	Het
Rps6ka1	C	T	4: 133,594,535 (GRCm39)	M159I	possibly damaging	Het
Samd4	A	G	14: 47,254,088 (GRCm39)	D184G	probably damaging	Het
Slc35f3	T	C	8: 127,047,833 (GRCm39)	C58R	possibly damaging	Het
Smarca4	T	C	9: 21,611,173 (GRCm39)	I1467T	probably damaging	Het
Spag17	T	G	3: 99,972,901 (GRCm39)	I1371S	probably benign	Het
Sptan1	T	C	2: 29,897,561 (GRCm39)	L1228P	possibly damaging	Het
Stk31	C	T	6: 49,398,631 (GRCm39)	A344V	probably benign	Het
Supt16	A	G	14: 52,408,291 (GRCm39)	W885R	probably damaging	Het
Tdrd9	T	A	12: 111,992,334 (GRCm39)		probably null	Het
Tmod1	A	G	4: 46,078,469 (GRCm39)		probably null	Het
Tnfsf13	A	C	11: 69,575,309 (GRCm39)		probably null	Het
Trim75	C	A	8: 65,436,094 (GRCm39)	E119*	probably null	Het
Wdr6	T	C	9: 108,452,110 (GRCm39)	Y591C	probably damaging	Het
Wdr86	C	T	5: 24,923,281 (GRCm39)	R137H	probably benign	Het
Ythdf1	T	A	2: 180,552,943 (GRCm39)	Y424F	probably damaging	Het
Zfp984	G	T	4: 147,840,643 (GRCm39)	S69R	possibly damaging	Het
Zyg11a	A	G	4: 108,038,991 (GRCm39)	F743L	probably damaging	Het

Other mutations in Rufy3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00705:Rufy3	APN	5	88,769,209 (GRCm39)	missense	probably damaging	0.96
IGL01964:Rufy3	APN	5	88,762,929 (GRCm39)	missense	probably damaging	1.00
IGL02537:Rufy3	APN	5	88,788,521 (GRCm39)	utr 3 prime	probably benign
R0111:Rufy3	UTSW	5	88,778,443 (GRCm39)	missense	probably damaging	1.00
R0552:Rufy3	UTSW	5	88,732,129 (GRCm39)	missense	possibly damaging	0.79
R1441:Rufy3	UTSW	5	88,780,374 (GRCm39)	missense	probably damaging	0.97
R1565:Rufy3	UTSW	5	88,788,491 (GRCm39)	missense	probably damaging	1.00
R2507:Rufy3	UTSW	5	88,797,757 (GRCm39)	missense	probably damaging	1.00
R2508:Rufy3	UTSW	5	88,797,757 (GRCm39)	missense	probably damaging	1.00
R3707:Rufy3	UTSW	5	88,790,891 (GRCm39)	missense	probably benign	0.28
R4907:Rufy3	UTSW	5	88,732,051 (GRCm39)	missense	possibly damaging	0.95
R4999:Rufy3	UTSW	5	88,785,085 (GRCm39)	missense	probably damaging	1.00
R5134:Rufy3	UTSW	5	88,793,426 (GRCm39)	missense	probably benign	0.01
R5420:Rufy3	UTSW	5	88,788,518 (GRCm39)	makesense	probably null
R5482:Rufy3	UTSW	5	88,785,191 (GRCm39)	frame shift	probably null
R6029:Rufy3	UTSW	5	88,775,114 (GRCm39)	missense	probably damaging	1.00
R6444:Rufy3	UTSW	5	88,785,166 (GRCm39)	missense	probably damaging	1.00
R7219:Rufy3	UTSW	5	88,797,715 (GRCm39)	missense	probably benign	0.22
R7256:Rufy3	UTSW	5	88,762,806 (GRCm39)	missense	possibly damaging	0.91
R7327:Rufy3	UTSW	5	88,790,811 (GRCm39)	missense	probably damaging	0.99
R7352:Rufy3	UTSW	5	88,785,053 (GRCm39)	missense	possibly damaging	0.92
R7484:Rufy3	UTSW	5	88,746,331 (GRCm39)	missense	probably benign	0.01
R7645:Rufy3	UTSW	5	88,788,476 (GRCm39)	missense	probably benign	0.01
R7953:Rufy3	UTSW	5	88,790,851 (GRCm39)	missense	probably benign	0.01
R8043:Rufy3	UTSW	5	88,790,851 (GRCm39)	missense	probably benign	0.01
R8478:Rufy3	UTSW	5	88,762,895 (GRCm39)	missense	probably damaging	1.00
R8549:Rufy3	UTSW	5	88,795,073 (GRCm39)	splice site	probably null
R9112:Rufy3	UTSW	5	88,780,336 (GRCm39)	missense
R9399:Rufy3	UTSW	5	88,797,725 (GRCm39)	missense	possibly damaging	0.92
R9438:Rufy3	UTSW	5	88,796,124 (GRCm39)	missense	probably benign	0.00
X0066:Rufy3	UTSW	5	88,765,277 (GRCm39)	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