Incidental Mutation 'R5420:Rufy3'
| ID |
427978 |
| 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 |
042988-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5420 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
88712899-88799251 bp(+) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
T to C
at 88788518 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Glutamine
at position 488
(*488Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143115
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031229]
[ENSMUST00000196686]
[ENSMUST00000196894]
[ENSMUST00000198965]
[ENSMUST00000199312]
|
| AlphaFold |
Q9D394 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000031229
AA Change: *470Q
|
| SMART Domains |
Protein: ENSMUSP00000031229
Gene: ENSMUSG00000029291
AA Change: *470Q
| 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 null
Transcript: ENSMUST00000196686
AA Change: *488Q
|
| SMART Domains |
Protein: ENSMUSP00000143209
Gene: ENSMUSG00000029291
AA Change: *488Q
| 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 null
Transcript: ENSMUST00000196894
AA Change: *520Q
|
| SMART Domains |
Protein: ENSMUSP00000143770
Gene: ENSMUSG00000029291
AA Change: *520Q
| 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 null
Transcript: ENSMUST00000199312
AA Change: *488Q
|
| SMART Domains |
Protein: ENSMUSP00000143115
Gene: ENSMUSG00000029291
AA Change: *488Q
| 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 |
0.9479 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.7%
|
| Validation Efficiency |
97% (66/68) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn3 |
TGCGCAGC |
T |
19: 4,915,372 (GRCm39) |
|
probably null |
Het |
| Adamts1 |
A |
T |
16: 85,596,497 (GRCm39) |
C117* |
probably null |
Het |
| Adgrg6 |
A |
T |
10: 14,302,730 (GRCm39) |
Y894* |
probably null |
Het |
| Alas1 |
G |
T |
9: 106,111,358 (GRCm39) |
L603I |
probably benign |
Het |
| Arhgap21 |
G |
T |
2: 20,885,897 (GRCm39) |
R427S |
probably damaging |
Het |
| Arhgef25 |
A |
T |
10: 127,023,143 (GRCm39) |
V88D |
probably benign |
Het |
| Bdp1 |
T |
C |
13: 100,202,551 (GRCm39) |
Q691R |
possibly damaging |
Het |
| Bpifa6 |
T |
A |
2: 153,831,250 (GRCm39) |
I272N |
probably damaging |
Het |
| Cacybp |
T |
C |
1: 160,035,914 (GRCm39) |
|
probably benign |
Het |
| Capn3 |
T |
C |
2: 120,325,777 (GRCm39) |
|
probably benign |
Het |
| Ccdc47 |
C |
T |
11: 106,101,176 (GRCm39) |
R162Q |
probably benign |
Het |
| Cideb |
A |
C |
14: 55,995,748 (GRCm39) |
M1R |
probably null |
Het |
| Clec16a |
G |
A |
16: 10,549,543 (GRCm39) |
C872Y |
probably damaging |
Het |
| Crebbp |
C |
T |
16: 3,925,322 (GRCm39) |
R760H |
probably damaging |
Het |
| Cyp2c23 |
A |
C |
19: 44,004,103 (GRCm39) |
|
probably null |
Het |
| Cyp3a13 |
T |
G |
5: 137,897,243 (GRCm39) |
D357A |
probably damaging |
Het |
| Dip2b |
C |
T |
15: 100,103,054 (GRCm39) |
|
probably benign |
Het |
| Ecm2 |
A |
T |
13: 49,681,210 (GRCm39) |
R448S |
possibly damaging |
Het |
| Edil3 |
T |
C |
13: 89,279,891 (GRCm39) |
Y190H |
probably damaging |
Het |
| Eps8l1 |
T |
G |
7: 4,473,160 (GRCm39) |
|
probably null |
Het |
| Eps8l3 |
A |
T |
3: 107,791,301 (GRCm39) |
K280* |
probably null |
Het |
| Fam184a |
A |
G |
10: 53,509,753 (GRCm39) |
F1137L |
probably damaging |
Het |
| Fmn2 |
A |
T |
1: 174,526,344 (GRCm39) |
R1388* |
probably null |
Het |
| Glt8d2 |
T |
C |
10: 82,488,516 (GRCm39) |
K318R |
probably benign |
Het |
| Herc2 |
A |
T |
7: 55,853,578 (GRCm39) |
K3690I |
probably damaging |
Het |
| Ifi206 |
T |
A |
1: 173,308,599 (GRCm39) |
I466F |
possibly damaging |
Het |
| Jade2 |
T |
C |
11: 51,709,434 (GRCm39) |
K525R |
probably benign |
Het |
| Kmt2a |
A |
T |
9: 44,759,633 (GRCm39) |
F772I |
probably damaging |
Het |
| Lipi |
A |
G |
16: 75,352,757 (GRCm39) |
V360A |
possibly damaging |
Het |
| Mbl1 |
C |
T |
14: 40,879,153 (GRCm39) |
S108L |
possibly damaging |
Het |
| Mmp1b |
T |
C |
9: 7,384,897 (GRCm39) |
I251V |
possibly damaging |
Het |
| Mrpl23 |
A |
G |
7: 142,089,874 (GRCm39) |
T25A |
probably damaging |
Het |
| Mto1 |
T |
A |
9: 78,360,109 (GRCm39) |
M199K |
probably benign |
Het |
| Nes |
A |
T |
3: 87,884,309 (GRCm39) |
N812I |
probably damaging |
Het |
| Nfkbie |
T |
A |
17: 45,871,132 (GRCm39) |
D261E |
probably benign |
Het |
| Or7e173 |
T |
C |
9: 19,938,355 (GRCm39) |
Y293C |
probably damaging |
Het |
| Pakap |
G |
A |
4: 57,856,062 (GRCm39) |
V505I |
probably benign |
Het |
| Pakap |
T |
A |
4: 57,856,434 (GRCm39) |
Y588N |
probably damaging |
Het |
| Papola |
A |
G |
12: 105,772,754 (GRCm39) |
I114V |
possibly damaging |
Het |
| Pappa |
T |
G |
4: 65,254,017 (GRCm39) |
|
probably null |
Het |
| Pcdh7 |
T |
A |
5: 57,877,529 (GRCm39) |
D361E |
probably damaging |
Het |
| Pick1 |
A |
G |
15: 79,133,040 (GRCm39) |
T367A |
probably benign |
Het |
| Plbd2 |
A |
G |
5: 120,632,547 (GRCm39) |
Y152H |
probably damaging |
Het |
| Ppfia2 |
A |
T |
10: 106,671,562 (GRCm39) |
E424D |
possibly damaging |
Het |
| Rab7b |
C |
T |
1: 131,626,164 (GRCm39) |
T64I |
probably damaging |
Het |
| Rarb |
T |
A |
14: 16,434,249 (GRCm38) |
I310F |
possibly damaging |
Het |
| Rdh16f2 |
C |
T |
10: 127,712,943 (GRCm39) |
P314S |
possibly damaging |
Het |
| Rpain |
A |
T |
11: 70,868,516 (GRCm39) |
|
probably null |
Het |
| Sash1 |
G |
A |
10: 8,621,950 (GRCm39) |
T398I |
probably damaging |
Het |
| Scara5 |
CG |
C |
14: 65,997,111 (GRCm39) |
|
probably null |
Het |
| Scrn1 |
T |
A |
6: 54,489,048 (GRCm39) |
I358F |
probably benign |
Het |
| Stam2 |
G |
A |
2: 52,626,305 (GRCm39) |
|
probably benign |
Het |
| Thbs1 |
G |
T |
2: 117,943,636 (GRCm39) |
D85Y |
possibly damaging |
Het |
| Thoc2l |
T |
A |
5: 104,666,225 (GRCm39) |
I249N |
probably damaging |
Het |
| Trp53 |
T |
C |
11: 69,479,146 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Vmn1r223 |
A |
G |
13: 23,433,675 (GRCm39) |
R90G |
probably benign |
Het |
| Zfp521 |
A |
T |
18: 13,977,144 (GRCm39) |
Y1090N |
probably damaging |
Het |
| Zfp677 |
T |
C |
17: 21,618,175 (GRCm39) |
C411R |
probably 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 |
|
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'- GTGAGTTTTAACTTGGCATTAAGGCC -3'
(R):5'- CATACCAAAATTCTAACTCTGGGG -3'
Sequencing Primer
(F):5'- GCCAACAGAACTAAAATAATGACTTG -3'
(R):5'- CAAAATTCTAACTCTGGGGGTGCG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation