Mutagenetix > Incidental Mutation

Incidental Mutation 'R1565:Rufy3'

175188

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

039604-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1565 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88712899-88799251 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 88788491 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 479 (A479S)

Ref Sequence

ENSEMBL: ENSMUSP00000143115 (fasta)

Gene Model

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

AlphaFold

Q9D394

Predicted Effect

probably damaging
Transcript: ENSMUST00000031229
AA Change: A461S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000031229
Gene: ENSMUSG00000029291
AA Change: A461S

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 damaging
Transcript: ENSMUST00000196686
AA Change: A479S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000143209
Gene: ENSMUSG00000029291
AA Change: A479S

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 damaging
Transcript: ENSMUST00000196894
AA Change: A511S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000143770
Gene: ENSMUSG00000029291
AA Change: A511S

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 damaging
Transcript: ENSMUST00000199312
AA Change: A479S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000143115
Gene: ENSMUSG00000029291
AA Change: A479S

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

0.1090

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 90.0%

Validation Efficiency

96% (82/85)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	G	A	11: 58,771,327 (GRCm39)	G270S	probably benign	Het
Abtb1	T	C	6: 88,813,536 (GRCm39)	T401A	probably benign	Het
Adamts14	A	T	10: 61,106,676 (GRCm39)	M148K	probably damaging	Het
Adcy5	A	G	16: 35,089,327 (GRCm39)	E508G	probably damaging	Het
Ankfy1	T	A	11: 72,648,144 (GRCm39)	L875H	probably damaging	Het
Cacng3	A	T	7: 122,367,624 (GRCm39)	D168V	probably damaging	Het
Clpb	G	A	7: 101,434,668 (GRCm39)	R488Q	probably benign	Het
Cltrn	A	G	X: 162,901,230 (GRCm39)	D184G	possibly damaging	Het
Cpxm2	A	T	7: 131,663,874 (GRCm39)	Y350N	probably damaging	Het
D130040H23Rik	T	A	8: 69,755,812 (GRCm39)	*406R	probably null	Het
Dnah10	T	A	5: 124,906,678 (GRCm39)	D4236E	probably damaging	Het
Dpf3	T	A	12: 83,417,391 (GRCm39)	Y27F	probably damaging	Het
Esp4	T	C	17: 40,913,486 (GRCm39)	*118Q	probably null	Het
Fam222b	T	C	11: 78,045,488 (GRCm39)	S222P	possibly damaging	Het
Flnc	T	C	6: 29,455,170 (GRCm39)	V1933A	probably damaging	Het
Gem	T	C	4: 11,713,709 (GRCm39)	F282L	possibly damaging	Het
Gli2	T	C	1: 118,769,660 (GRCm39)	T631A	possibly damaging	Het
Gpld1	T	A	13: 25,140,051 (GRCm39)	V116E	probably damaging	Het
Gpr176	A	G	2: 118,110,695 (GRCm39)	M188T	probably benign	Het
Grk5	T	C	19: 61,078,410 (GRCm39)	V489A	probably damaging	Het
Hpdl	T	C	4: 116,678,080 (GRCm39)	N127S	probably damaging	Het
Hsd17b8	C	T	17: 34,246,469 (GRCm39)	V105I	possibly damaging	Het
Id4	G	T	13: 48,415,770 (GRCm39)	V151L	possibly damaging	Het
Kcnh8	G	T	17: 53,263,909 (GRCm39)	G802V	probably benign	Het
Lamc1	C	A	1: 153,118,489 (GRCm39)	S894I	probably benign	Het
Larp1b	A	G	3: 40,926,819 (GRCm39)	N184S	probably damaging	Het
Lhx1	A	T	11: 84,410,647 (GRCm39)	S226T	probably benign	Het
Lmo7	A	T	14: 102,124,957 (GRCm39)	Q472L	probably damaging	Het
Mog	G	C	17: 37,328,474 (GRCm39)	N152K	possibly damaging	Het
Mttp	A	G	3: 137,822,166 (GRCm39)		probably null	Het
Mycbp2	A	G	14: 103,489,945 (GRCm39)	V953A	possibly damaging	Het
Myo3a	A	T	2: 22,345,091 (GRCm39)	Y509F	probably damaging	Het
Myo9b	A	G	8: 71,767,836 (GRCm39)	N303S	possibly damaging	Het
Nek3	T	C	8: 22,622,217 (GRCm39)		probably null	Het
Nlrc4	A	T	17: 74,748,926 (GRCm39)	D771E	probably benign	Het
Nup160	A	T	2: 90,552,405 (GRCm39)	N1127I	possibly damaging	Het
Oas1h	A	T	5: 121,000,663 (GRCm39)	N91I	probably damaging	Het
Or13p4	T	A	4: 118,547,389 (GRCm39)	N87Y	probably damaging	Het
Or4c120	A	T	2: 89,000,971 (GRCm39)	V195D	probably benign	Het
Or4c121	G	T	2: 89,024,227 (GRCm39)	S50R	probably damaging	Het
Parp4	T	C	14: 56,827,329 (GRCm39)		probably benign	Het
Pi4ka	G	A	16: 17,099,764 (GRCm39)	C96Y	probably null	Het
Pira2	A	T	7: 3,847,548 (GRCm39)	F47Y	probably damaging	Het
Pkhd1	C	A	1: 20,417,681 (GRCm39)	G2490V	probably damaging	Het
Plekhg1	C	T	10: 3,890,526 (GRCm39)	T394I	probably damaging	Het
Pramel22	G	A	4: 143,382,187 (GRCm39)	Q170*	probably null	Het
Psmd1	T	C	1: 86,019,719 (GRCm39)		probably benign	Het
Rab3ip	A	T	10: 116,775,128 (GRCm39)	C77S	probably benign	Het
Reln	A	T	5: 22,130,211 (GRCm39)	M2700K	probably benign	Het
Rfx1	A	G	8: 84,800,575 (GRCm39)	T59A	probably benign	Het
Ric8b	G	T	10: 84,815,963 (GRCm39)	V405L	probably benign	Het
Sardh	A	T	2: 27,132,731 (GRCm39)	Y166N	probably damaging	Het
Slamf6	T	G	1: 171,761,975 (GRCm39)	V132G	possibly damaging	Het
Slc12a3	T	G	8: 95,072,505 (GRCm39)	H674Q	possibly damaging	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Srsf9	A	G	5: 115,465,429 (GRCm39)	N21S	possibly damaging	Het
Stkld1	A	T	2: 26,840,102 (GRCm39)	T391S	probably benign	Het
Sumf2	C	A	5: 129,888,755 (GRCm39)	N230K	probably damaging	Het
Tbc1d22a	T	C	15: 86,119,770 (GRCm39)	V22A	possibly damaging	Het
Thsd7b	T	A	1: 129,523,778 (GRCm39)	S194T	possibly damaging	Het
Tnn	T	A	1: 159,924,835 (GRCm39)	Y1173F	probably damaging	Het
Top2a	A	G	11: 98,891,880 (GRCm39)	F1122L	probably damaging	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Trim39	G	A	17: 36,579,746 (GRCm39)	R70W	probably damaging	Het
Ttn	G	A	2: 76,624,605 (GRCm39)	T15289I	probably damaging	Het
Ugt2b38	A	T	5: 87,559,773 (GRCm39)	V373E	probably damaging	Het
Usp54	A	G	14: 20,657,227 (GRCm39)	S24P	probably damaging	Het
Vmn2r27	C	T	6: 124,208,593 (GRCm39)	G51S	probably benign	Het
Xylt2	C	T	11: 94,558,420 (GRCm39)	A579T	probably benign	Het
Zbtb21	A	G	16: 97,753,627 (GRCm39)	S247P	probably benign	Het
Zc3h7b	C	T	15: 81,661,289 (GRCm39)	P376L	probably benign	Het
Zfp251	T	A	15: 76,737,238 (GRCm39)	R613S	probably damaging	Het
Zfp251	C	T	15: 76,737,239 (GRCm39)	R613K	possibly damaging	Het
Zfp91	T	C	19: 12,756,439 (GRCm39)	D135G	probably benign	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
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
R6254:Rufy3	UTSW	5	88,732,168 (GRCm39)	missense	probably benign	0.01
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'- TCTTCAGGGAATCAGGGAGGAAGTATC -3'
(R):5'- ACACCCGACCTATGTATCCACCTATTG -3'

Sequencing Primer
(F):5'- GAAGTGTTTGAAACTGATCCTCAGTG -3'
(R):5'- CCACCTATTGTTTCTTTAAGTCCAAC -3'

Posted On

2014-04-24