Incidental Mutation 'R3707:Rufy3'
| ID |
475923 |
| 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 |
040700-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3707 (G1)
|
| Quality Score |
156 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
88712899-88799251 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 88790891 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 531
(A531T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143302
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031229]
[ENSMUST00000196686]
[ENSMUST00000196894]
[ENSMUST00000198965]
[ENSMUST00000199312]
|
| AlphaFold |
Q9D394 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031229
|
| SMART Domains |
Protein: ENSMUSP00000031229
Gene: ENSMUSG00000029291
| 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
|
| SMART Domains |
Protein: ENSMUSP00000143209
Gene: ENSMUSG00000029291
| 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 |
probably benign
Transcript: ENSMUST00000198965
AA Change: A531T
PolyPhen 2
Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000143302
Gene: ENSMUSG00000029291
AA Change: A531T
| 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
|
| SMART Domains |
Protein: ENSMUSP00000143115
Gene: ENSMUSG00000029291
| 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 |
noncoding transcript
Transcript: ENSMUST00000199956
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
| Validation Efficiency |
97% (37/38) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| Avpr1a |
T |
A |
10: 122,285,014 (GRCm39) |
F102Y |
probably damaging |
Het |
| Bcs1l |
A |
G |
1: 74,629,264 (GRCm39) |
|
probably benign |
Het |
| Chrng |
C |
T |
1: 87,138,333 (GRCm39) |
Q375* |
probably null |
Het |
| Cplane1 |
T |
C |
15: 8,289,300 (GRCm39) |
S2917P |
unknown |
Het |
| Cyp2d10 |
A |
G |
15: 82,287,217 (GRCm39) |
F469L |
possibly damaging |
Het |
| Dennd6a |
T |
C |
14: 26,313,546 (GRCm39) |
|
probably benign |
Het |
| Eef2k |
C |
A |
7: 120,483,935 (GRCm39) |
L224I |
probably damaging |
Het |
| Gm10033 |
G |
C |
8: 69,825,068 (GRCm39) |
|
noncoding transcript |
Het |
| Gm11545 |
T |
C |
11: 94,648,385 (GRCm39) |
|
noncoding transcript |
Het |
| Herpud1 |
T |
A |
8: 95,118,867 (GRCm39) |
V207D |
probably damaging |
Het |
| Hmbox1 |
T |
C |
14: 65,134,285 (GRCm39) |
Y105C |
probably benign |
Het |
| Ighv1-85 |
A |
T |
12: 115,963,836 (GRCm39) |
W55R |
probably damaging |
Het |
| Lgr4 |
T |
C |
2: 109,801,099 (GRCm39) |
L83P |
probably damaging |
Het |
| Lrch1 |
C |
T |
14: 75,095,437 (GRCm39) |
M134I |
probably damaging |
Het |
| Macrod2 |
C |
A |
2: 141,652,549 (GRCm39) |
T204K |
probably damaging |
Het |
| Mtg1 |
A |
T |
7: 139,729,717 (GRCm39) |
K269M |
probably damaging |
Het |
| Nkain3 |
A |
T |
4: 20,484,920 (GRCm39) |
F52L |
possibly damaging |
Het |
| Nr4a3 |
A |
T |
4: 48,056,699 (GRCm39) |
Y417F |
probably damaging |
Het |
| Or12e10 |
T |
C |
2: 87,640,520 (GRCm39) |
C119R |
probably damaging |
Het |
| Or6c8 |
T |
A |
10: 128,915,254 (GRCm39) |
I193F |
probably benign |
Het |
| Pappa2 |
A |
T |
1: 158,662,488 (GRCm39) |
Y1162* |
probably null |
Het |
| Pdhb |
T |
C |
14: 8,170,409 (GRCm38) |
N114S |
probably damaging |
Het |
| Pigc |
T |
A |
1: 161,798,663 (GRCm39) |
M215K |
probably benign |
Het |
| Pimreg |
G |
A |
11: 71,937,158 (GRCm39) |
|
probably benign |
Het |
| Ppfia4 |
T |
C |
1: 134,237,398 (GRCm39) |
E967G |
probably damaging |
Het |
| Resf1 |
C |
T |
6: 149,230,611 (GRCm39) |
S1219L |
probably damaging |
Het |
| Rif1 |
T |
A |
2: 51,983,592 (GRCm39) |
D578E |
probably damaging |
Het |
| Rrbp1 |
G |
T |
2: 143,795,197 (GRCm39) |
A1269E |
probably benign |
Het |
| Slc22a22 |
C |
A |
15: 57,114,369 (GRCm39) |
L319F |
probably damaging |
Het |
| Tapbpl |
A |
G |
6: 125,201,658 (GRCm39) |
|
probably null |
Het |
| Tdrd1 |
T |
C |
19: 56,854,425 (GRCm39) |
S1124P |
possibly damaging |
Het |
| Top2a |
T |
C |
11: 98,887,651 (GRCm39) |
K1286E |
probably benign |
Het |
| Top2b |
T |
C |
14: 16,388,447 (GRCm38) |
V188A |
probably damaging |
Het |
| Vmn2r4 |
A |
T |
3: 64,296,895 (GRCm39) |
I630N |
probably damaging |
Het |
| Vmn2r53 |
T |
C |
7: 12,315,981 (GRCm39) |
T613A |
possibly damaging |
Het |
| Zbtb40 |
A |
G |
4: 136,726,879 (GRCm39) |
Y486H |
probably damaging |
Het |
| Zfp715 |
T |
C |
7: 42,960,553 (GRCm39) |
T13A |
probably benign |
Het |
| Zfx |
A |
G |
X: 93,142,413 (GRCm39) |
V36A |
possibly 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 |
|
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 |
|
| Posted On |
2017-05-11 |
Incidental Mutation