Incidental Mutation 'R8043:Rufy3'
| ID |
618618 |
| 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 |
067480-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8043 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
88712899-88799251 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 88790851 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 517
(D517E)
|
| 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: D517E
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000143302
Gene: ENSMUSG00000029291
AA Change: D517E
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
98% (50/51) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
T |
C |
5: 124,211,665 (GRCm39) |
Y628C |
probably damaging |
Het |
| Alpk2 |
C |
T |
18: 65,482,901 (GRCm39) |
C369Y |
probably damaging |
Het |
| Atl1 |
T |
C |
12: 70,005,989 (GRCm39) |
Y432H |
probably damaging |
Het |
| Cacnb4 |
C |
T |
2: 52,355,663 (GRCm39) |
V215M |
probably damaging |
Het |
| Cep170 |
C |
T |
1: 176,596,808 (GRCm39) |
M516I |
probably damaging |
Het |
| Cep83 |
A |
C |
10: 94,573,804 (GRCm39) |
N231T |
probably damaging |
Het |
| Cfap44 |
G |
A |
16: 44,234,054 (GRCm39) |
G338D |
probably benign |
Het |
| Col6a6 |
A |
T |
9: 105,576,219 (GRCm39) |
V2047E |
probably damaging |
Het |
| Coro1c |
C |
T |
5: 114,003,820 (GRCm39) |
|
silent |
Het |
| Cplx4 |
A |
T |
18: 66,090,190 (GRCm39) |
|
probably null |
Het |
| Csf1r |
G |
C |
18: 61,257,947 (GRCm39) |
G639R |
probably damaging |
Het |
| Epha5 |
A |
G |
5: 84,381,513 (GRCm39) |
V446A |
probably benign |
Het |
| Esam |
T |
C |
9: 37,448,317 (GRCm39) |
V252A |
probably damaging |
Het |
| F13b |
T |
G |
1: 139,450,186 (GRCm39) |
M616R |
probably benign |
Het |
| Fbxw21 |
T |
C |
9: 108,975,694 (GRCm39) |
Y234C |
probably benign |
Het |
| Fshr |
C |
T |
17: 89,293,818 (GRCm39) |
E287K |
probably benign |
Het |
| Fstl4 |
T |
C |
11: 52,891,050 (GRCm39) |
S63P |
probably benign |
Het |
| Glra1 |
G |
A |
11: 55,424,688 (GRCm39) |
P174L |
probably damaging |
Het |
| Golga7 |
A |
T |
8: 23,746,731 (GRCm39) |
C24S |
possibly damaging |
Het |
| Gpr3 |
G |
A |
4: 132,938,271 (GRCm39) |
R134C |
probably damaging |
Het |
| Greb1 |
T |
C |
12: 16,761,790 (GRCm39) |
E530G |
probably damaging |
Het |
| Hmgcs2 |
C |
T |
3: 98,198,444 (GRCm39) |
R116C |
probably damaging |
Het |
| Kcnj9 |
C |
A |
1: 172,153,623 (GRCm39) |
R167L |
probably damaging |
Het |
| Kcnq5 |
T |
A |
1: 21,549,644 (GRCm39) |
Q361L |
probably damaging |
Het |
| Lrrc40 |
T |
C |
3: 157,769,397 (GRCm39) |
S532P |
possibly damaging |
Het |
| Mob3a |
A |
T |
10: 80,525,846 (GRCm39) |
I155N |
probably damaging |
Het |
| Mpi |
A |
T |
9: 57,457,881 (GRCm39) |
L107Q |
probably damaging |
Het |
| Npffr2 |
G |
A |
5: 89,730,513 (GRCm39) |
V148I |
probably benign |
Het |
| Nrp1 |
G |
T |
8: 129,158,504 (GRCm39) |
V264L |
probably benign |
Het |
| Oas1a |
T |
C |
5: 121,035,080 (GRCm39) |
E360G |
probably benign |
Het |
| Or4k15c |
A |
T |
14: 50,321,367 (GRCm39) |
I257N |
possibly damaging |
Het |
| Or52e8 |
A |
T |
7: 104,625,080 (GRCm39) |
Y41* |
probably null |
Het |
| Or5b96 |
A |
C |
19: 12,867,095 (GRCm39) |
V282G |
probably damaging |
Het |
| Pcdha2 |
A |
G |
18: 37,072,579 (GRCm39) |
D70G |
probably benign |
Het |
| Pcsk2 |
A |
T |
2: 143,655,450 (GRCm39) |
K545* |
probably null |
Het |
| Phf11b |
T |
C |
14: 59,568,722 (GRCm39) |
S64G |
probably benign |
Het |
| Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
| Pygo2 |
T |
C |
3: 89,340,235 (GRCm39) |
L211P |
possibly damaging |
Het |
| Rbbp6 |
C |
T |
7: 122,584,468 (GRCm39) |
T161I |
probably damaging |
Het |
| Rcsd1 |
A |
T |
1: 165,482,911 (GRCm39) |
I390N |
probably benign |
Het |
| Rpl21 |
T |
C |
5: 146,772,702 (GRCm39) |
V141A |
probably benign |
Het |
| Ryr3 |
A |
T |
2: 112,606,009 (GRCm39) |
L2417Q |
probably damaging |
Het |
| Ryr3 |
C |
T |
2: 112,705,422 (GRCm39) |
E831K |
probably damaging |
Het |
| Sipa1l1 |
A |
C |
12: 82,496,700 (GRCm39) |
Q1744P |
probably damaging |
Het |
| Sirt6 |
A |
G |
10: 81,458,240 (GRCm39) |
|
probably null |
Het |
| Slain1 |
C |
A |
14: 103,925,782 (GRCm39) |
Q377K |
possibly damaging |
Het |
| Slc30a6 |
T |
G |
17: 74,730,018 (GRCm39) |
S303A |
probably damaging |
Het |
| Sorcs3 |
T |
A |
19: 48,752,734 (GRCm39) |
L843Q |
possibly damaging |
Het |
| Usp45 |
G |
A |
4: 21,824,543 (GRCm39) |
A432T |
probably benign |
Het |
| Vmn1r91 |
T |
A |
7: 19,835,218 (GRCm39) |
S46T |
possibly damaging |
Het |
| Ybx3 |
T |
C |
6: 131,361,469 (GRCm39) |
N100S |
probably benign |
Het |
| Zfp747 |
A |
G |
7: 126,973,225 (GRCm39) |
L315P |
probably benign |
Het |
| Zfp750 |
T |
C |
11: 121,402,706 (GRCm39) |
T681A |
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 |
|
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 |
|
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'- AGAAAATCAGCTTCTCTTCTGCC -3'
(R):5'- ACTGTTCAGACCCGTGAAGC -3'
Sequencing Primer
(F):5'- GTGTCCTGCATTGTCCACC -3'
(R):5'- TCAGACCCGTGAAGCTTTCTGAG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation