Incidental Mutation 'IGL02537:Rufy3'
ID |
297576 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rufy3
|
Ensembl Gene |
ENSMUSG00000029291 |
Gene Name |
RUN and FYVE domain containing 3 |
Synonyms |
Rpipx, D5Bwg0860e, 6330416M07Rik, 2810428M05Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02537
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
88712899-88799251 bp(+) (GRCm39) |
Type of Mutation |
utr 3 prime |
DNA Base Change (assembly) |
A to G
at 88788521 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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
|
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
|
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
|
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930011G23Rik |
A |
G |
5: 99,377,236 (GRCm39) |
S404P |
probably damaging |
Het |
A930011G23Rik |
G |
A |
5: 99,377,241 (GRCm39) |
P402L |
probably damaging |
Het |
Alx3 |
T |
A |
3: 107,512,175 (GRCm39) |
M271K |
possibly damaging |
Het |
Ank2 |
T |
C |
3: 126,749,565 (GRCm39) |
E488G |
probably damaging |
Het |
Arsk |
T |
A |
13: 76,223,025 (GRCm39) |
R191* |
probably null |
Het |
B230217C12Rik |
T |
C |
11: 97,733,011 (GRCm39) |
S111P |
possibly damaging |
Het |
Bckdhb |
A |
G |
9: 83,871,194 (GRCm39) |
I158V |
probably benign |
Het |
Bub1 |
G |
A |
2: 127,643,267 (GRCm39) |
Q1026* |
probably null |
Het |
C8a |
A |
G |
4: 104,703,148 (GRCm39) |
M303T |
probably damaging |
Het |
Cftr |
A |
G |
6: 18,274,596 (GRCm39) |
T905A |
probably benign |
Het |
Ciao3 |
C |
T |
17: 25,997,916 (GRCm39) |
|
probably benign |
Het |
Col14a1 |
A |
T |
15: 55,208,310 (GRCm39) |
K132* |
probably null |
Het |
Depdc5 |
T |
A |
5: 33,125,131 (GRCm39) |
L531Q |
probably damaging |
Het |
Dzip1 |
G |
A |
14: 119,146,988 (GRCm39) |
|
probably benign |
Het |
F5 |
C |
A |
1: 164,020,686 (GRCm39) |
L1054I |
probably benign |
Het |
Gm4353 |
A |
T |
7: 115,682,987 (GRCm39) |
I198N |
probably damaging |
Het |
Il1a |
T |
A |
2: 129,150,996 (GRCm39) |
E9V |
probably damaging |
Het |
Irag1 |
A |
T |
7: 110,470,680 (GRCm39) |
Y678* |
probably null |
Het |
Kif15 |
A |
G |
9: 122,822,914 (GRCm39) |
T432A |
probably benign |
Het |
Kndc1 |
T |
C |
7: 139,490,326 (GRCm39) |
V276A |
probably benign |
Het |
Or2aj5 |
A |
T |
16: 19,424,549 (GRCm39) |
Y290N |
probably damaging |
Het |
Or4a74 |
A |
C |
2: 89,439,739 (GRCm39) |
S236A |
possibly damaging |
Het |
Or6n2 |
A |
T |
1: 173,897,020 (GRCm39) |
D52V |
possibly damaging |
Het |
Palld |
T |
C |
8: 62,137,968 (GRCm39) |
S596G |
probably benign |
Het |
Pdc |
A |
T |
1: 150,208,760 (GRCm39) |
D81V |
possibly damaging |
Het |
Plcd4 |
A |
G |
1: 74,595,209 (GRCm39) |
K361R |
possibly damaging |
Het |
Plekhm1 |
T |
A |
11: 103,288,018 (GRCm39) |
D43V |
probably damaging |
Het |
Prpf31 |
G |
T |
7: 3,641,750 (GRCm39) |
G356C |
probably damaging |
Het |
Rbpj |
T |
A |
5: 53,799,485 (GRCm39) |
I100K |
probably damaging |
Het |
Slc40a1 |
C |
T |
1: 45,950,553 (GRCm39) |
V300I |
probably benign |
Het |
Slc6a12 |
A |
T |
6: 121,337,473 (GRCm39) |
I386F |
probably benign |
Het |
Strip1 |
C |
T |
3: 107,524,210 (GRCm39) |
R569H |
possibly damaging |
Het |
Tep1 |
A |
T |
14: 51,073,570 (GRCm39) |
D1996E |
probably damaging |
Het |
Tmem68 |
A |
G |
4: 3,569,649 (GRCm39) |
S14P |
possibly damaging |
Het |
Trav12-1 |
C |
A |
14: 53,775,980 (GRCm39) |
C44* |
probably null |
Het |
Uba1 |
G |
A |
X: 20,544,902 (GRCm39) |
R693H |
possibly damaging |
Het |
Ugt2b38 |
T |
C |
5: 87,569,590 (GRCm39) |
T246A |
possibly damaging |
Het |
Usp24 |
A |
G |
4: 106,249,564 (GRCm39) |
Y1427C |
probably damaging |
Het |
Vmn2r78 |
A |
T |
7: 86,603,496 (GRCm39) |
Y558F |
probably damaging |
Het |
Wdr54 |
A |
G |
6: 83,130,372 (GRCm39) |
W221R |
possibly damaging |
Het |
Xpo4 |
T |
C |
14: 57,831,290 (GRCm39) |
T773A |
probably benign |
Het |
Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
Zfp518a |
T |
A |
19: 40,903,874 (GRCm39) |
S1268T |
probably benign |
Het |
Znfx1 |
T |
C |
2: 166,898,087 (GRCm39) |
D279G |
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 |
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 |
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 |
|
Posted On |
2015-04-16 |