Incidental Mutation 'R9112:Rufy3'
| ID |
692291 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9112 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
88712899-88799251 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 88780336 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 361
(E361D)
|
| 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
AA Change: E311D
PolyPhen 2
Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000031229
Gene: ENSMUSG00000029291
AA Change: E311D
| 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 |
possibly damaging
Transcript: ENSMUST00000196686
AA Change: E329D
PolyPhen 2
Score 0.689 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000143209
Gene: ENSMUSG00000029291
AA Change: E329D
| 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 |
possibly damaging
Transcript: ENSMUST00000196894
AA Change: E361D
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000143770
Gene: ENSMUSG00000029291
AA Change: E361D
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000143302
Gene: ENSMUSG00000029291
AA Change: E361D
| 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 |
possibly damaging
Transcript: ENSMUST00000199312
AA Change: E329D
PolyPhen 2
Score 0.689 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000143115
Gene: ENSMUSG00000029291
AA Change: E329D
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (56/56) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310033P09Rik |
A |
G |
11: 59,100,806 (GRCm39) |
S181G |
possibly damaging |
Het |
| 5730596B20Rik |
A |
G |
6: 52,156,413 (GRCm39) |
R160G |
unknown |
Het |
| Acy1 |
A |
G |
9: 106,311,952 (GRCm39) |
Y262H |
probably benign |
Het |
| Adamts13 |
T |
C |
2: 26,880,379 (GRCm39) |
S681P |
possibly damaging |
Het |
| Adgra3 |
C |
A |
5: 50,118,395 (GRCm39) |
C1051F |
probably damaging |
Het |
| Afp |
T |
C |
5: 90,652,289 (GRCm39) |
|
probably null |
Het |
| Agrn |
A |
T |
4: 156,261,514 (GRCm39) |
V568E |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,987,149 (GRCm39) |
E2811G |
probably damaging |
Het |
| Ap1m1 |
C |
A |
8: 72,994,066 (GRCm39) |
Y7* |
probably null |
Het |
| Apobec1 |
T |
A |
6: 122,555,837 (GRCm39) |
T207S |
probably benign |
Het |
| Arhgap32 |
G |
A |
9: 32,157,309 (GRCm39) |
R102Q |
probably damaging |
Het |
| Bcat2 |
T |
C |
7: 45,237,446 (GRCm39) |
|
probably null |
Het |
| Cd209f |
T |
A |
8: 4,155,802 (GRCm39) |
|
probably benign |
Het |
| Cox7c |
G |
A |
13: 86,194,837 (GRCm39) |
|
probably benign |
Het |
| Cyp2d11 |
A |
G |
15: 82,276,203 (GRCm39) |
V156A |
possibly damaging |
Het |
| Dhrs3 |
A |
T |
4: 144,653,769 (GRCm39) |
T297S |
probably benign |
Het |
| Dip2c |
T |
C |
13: 9,660,766 (GRCm39) |
C876R |
probably damaging |
Het |
| Eprs1 |
A |
T |
1: 185,129,273 (GRCm39) |
I587F |
probably damaging |
Het |
| Fam13c |
A |
G |
10: 70,286,978 (GRCm39) |
T81A |
probably benign |
Het |
| Flt4 |
A |
G |
11: 49,524,064 (GRCm39) |
Y548C |
probably damaging |
Het |
| Garin2 |
T |
C |
12: 78,757,202 (GRCm39) |
|
probably null |
Het |
| Gimap4 |
T |
A |
6: 48,667,629 (GRCm39) |
V128E |
probably benign |
Het |
| Gm32742 |
A |
G |
9: 51,060,735 (GRCm39) |
L856P |
possibly damaging |
Het |
| Gm5916 |
A |
G |
9: 36,032,258 (GRCm39) |
Y59H |
probably damaging |
Het |
| Gnai3 |
A |
T |
3: 108,030,990 (GRCm39) |
H57Q |
|
Het |
| Golga3 |
G |
T |
5: 110,333,757 (GRCm39) |
R131L |
probably benign |
Het |
| Gpc6 |
A |
T |
14: 117,424,088 (GRCm39) |
I59F |
probably benign |
Het |
| H2bc6 |
T |
C |
13: 23,769,753 (GRCm39) |
M63V |
possibly damaging |
Het |
| Herc6 |
T |
C |
6: 57,596,604 (GRCm39) |
S515P |
probably damaging |
Het |
| Ift74 |
T |
C |
4: 94,575,103 (GRCm39) |
I518T |
probably benign |
Het |
| Kat6b |
T |
C |
14: 21,675,256 (GRCm39) |
S474P |
possibly damaging |
Het |
| Klhl3 |
A |
C |
13: 58,248,212 (GRCm39) |
I28S |
unknown |
Het |
| Klrh1 |
T |
A |
6: 129,743,697 (GRCm39) |
I196F |
probably benign |
Het |
| Lipi |
A |
G |
16: 75,359,159 (GRCm39) |
F259S |
probably damaging |
Het |
| Lrrc8a |
T |
A |
2: 30,145,782 (GRCm39) |
S199T |
probably damaging |
Het |
| Map2 |
T |
A |
1: 66,472,723 (GRCm39) |
C1709* |
probably null |
Het |
| Mrgprf |
A |
G |
7: 144,861,503 (GRCm39) |
S22G |
probably benign |
Het |
| Myo1e |
G |
T |
9: 70,274,983 (GRCm39) |
R712L |
probably benign |
Het |
| Nras |
A |
T |
3: 102,967,658 (GRCm39) |
N85Y |
probably benign |
Het |
| Or4a71 |
C |
T |
2: 89,358,337 (GRCm39) |
C139Y |
probably damaging |
Het |
| Or5b3 |
A |
T |
19: 13,388,475 (GRCm39) |
I181F |
probably benign |
Het |
| Or6ae1 |
A |
G |
7: 139,742,660 (GRCm39) |
S68P |
|
Het |
| Or9q2 |
T |
C |
19: 13,772,780 (GRCm39) |
H65R |
probably damaging |
Het |
| Pcp2 |
T |
A |
8: 3,674,638 (GRCm39) |
|
probably benign |
Het |
| Pigv |
T |
C |
4: 133,392,079 (GRCm39) |
R364G |
probably benign |
Het |
| Plekhh3 |
T |
A |
11: 101,061,625 (GRCm39) |
S30C |
probably damaging |
Het |
| Poglut3 |
A |
G |
9: 53,295,530 (GRCm39) |
Y44C |
probably damaging |
Het |
| Pramel11 |
A |
C |
4: 143,623,334 (GRCm39) |
V280G |
possibly damaging |
Het |
| Pramel51 |
C |
T |
12: 88,144,055 (GRCm39) |
A261T |
possibly damaging |
Het |
| Rhof |
T |
C |
5: 123,258,571 (GRCm39) |
|
probably benign |
Het |
| Serpina1b |
T |
C |
12: 103,698,699 (GRCm39) |
D50G |
probably benign |
Het |
| Sgsm2 |
G |
A |
11: 74,756,222 (GRCm39) |
Q376* |
probably null |
Het |
| Slc18b1 |
A |
T |
10: 23,692,262 (GRCm39) |
I246F |
probably damaging |
Het |
| Slc38a9 |
A |
T |
13: 112,850,777 (GRCm39) |
N387I |
probably damaging |
Het |
| Synrg |
C |
G |
11: 83,862,409 (GRCm39) |
P35A |
probably damaging |
Het |
| Tdrp |
T |
C |
8: 14,005,796 (GRCm39) |
K42E |
probably damaging |
Het |
| Trappc10 |
A |
C |
10: 78,029,201 (GRCm39) |
M1112R |
probably damaging |
Het |
| Ube2e1 |
A |
G |
14: 18,285,203 (GRCm38) |
V90A |
probably damaging |
Het |
| Vwde |
C |
A |
6: 13,205,051 (GRCm39) |
V277F |
possibly damaging |
Het |
| Zfyve16 |
A |
G |
13: 92,659,563 (GRCm39) |
M116T |
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 |
|
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 |
|
|
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'- TGGGTGATGGATAGCTTCCC -3'
(R):5'- TAAGCAGCGGTGATGCCAAG -3'
Sequencing Primer
(F):5'- TCCCTTAGCTATAGAGTCCTAAGG -3'
(R):5'- AAGAACCTCTGAGCTGTGC -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation