Incidental Mutation 'R5204:Rufy1'
| ID |
398358 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rufy1
|
| Ensembl Gene |
ENSMUSG00000020375 |
| Gene Name |
RUN and FYVE domain containing 1 |
| Synonyms |
Rabip4, ZFYVE12, 3000002E04Rik |
| MMRRC Submission |
042779-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.378)
|
| Stock # |
R5204 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
50280113-50321952 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 50297261 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 397
(R397Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020643
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020643]
|
| AlphaFold |
Q8BIJ7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020643
AA Change: R397Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020643
Gene: ENSMUSG00000020375
AA Change: R397Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
83 |
111 |
N/A |
INTRINSIC |
|
RUN
|
211 |
273 |
1.21e-21 |
SMART |
|
coiled coil region
|
324 |
384 |
N/A |
INTRINSIC |
|
coiled coil region
|
409 |
621 |
N/A |
INTRINSIC |
|
FYVE
|
638 |
705 |
1.24e-24 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129304
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135508
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains a RUN domain and a FYVE-type zinc finger domain. The encoded protein binds to phosphatidylinositol-3-phosphate (PI3P) and plays a role in early endosomal trafficking, tethering and fusion through interactions with small GTPases including Rab4, Rab5 and Rab14. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aarsd1 |
A |
T |
11: 101,297,752 (GRCm39) |
L532Q |
probably damaging |
Het |
| Abt1 |
G |
A |
13: 23,606,838 (GRCm39) |
R88C |
probably damaging |
Het |
| Aopep |
G |
A |
13: 63,180,904 (GRCm39) |
V289I |
probably benign |
Het |
| Arhgef7 |
T |
A |
8: 11,850,775 (GRCm39) |
L129* |
probably null |
Het |
| Arid1b |
T |
C |
17: 5,393,316 (GRCm39) |
V2282A |
probably damaging |
Het |
| Bivm |
G |
C |
1: 44,177,738 (GRCm39) |
G346A |
probably damaging |
Het |
| Cav1 |
T |
C |
6: 17,339,254 (GRCm39) |
L102P |
probably damaging |
Het |
| Ccdc57 |
A |
G |
11: 120,776,888 (GRCm39) |
V504A |
possibly damaging |
Het |
| Cd7 |
A |
T |
11: 120,928,860 (GRCm39) |
|
probably null |
Het |
| Cdh3 |
T |
C |
8: 107,270,871 (GRCm39) |
V508A |
probably benign |
Het |
| Chrd |
A |
T |
16: 20,554,822 (GRCm39) |
I413F |
probably benign |
Het |
| Clec4b1 |
T |
A |
6: 123,048,494 (GRCm39) |
*210R |
probably null |
Het |
| Clock |
A |
T |
5: 76,391,017 (GRCm39) |
|
probably null |
Het |
| Col4a2 |
T |
A |
8: 11,448,651 (GRCm39) |
|
probably null |
Het |
| Gpx7 |
T |
C |
4: 108,260,512 (GRCm39) |
T95A |
probably benign |
Het |
| Hivep3 |
T |
A |
4: 119,961,053 (GRCm39) |
|
probably null |
Het |
| Hrc |
A |
G |
7: 44,985,128 (GRCm39) |
Y93C |
possibly damaging |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Klhl5 |
G |
T |
5: 65,288,781 (GRCm39) |
L14F |
possibly damaging |
Het |
| Mcm6 |
A |
G |
1: 128,261,375 (GRCm39) |
L743P |
probably benign |
Het |
| Nrxn1 |
A |
T |
17: 90,469,792 (GRCm39) |
F57Y |
probably damaging |
Het |
| Or51af1 |
C |
T |
7: 103,141,747 (GRCm39) |
V113M |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pcdh20 |
G |
T |
14: 88,706,351 (GRCm39) |
D316E |
probably damaging |
Het |
| Pcdhb12 |
T |
A |
18: 37,569,142 (GRCm39) |
V96E |
probably damaging |
Het |
| Pi4ka |
A |
T |
16: 17,176,909 (GRCm39) |
L346M |
possibly damaging |
Het |
| Pkhd1l1 |
A |
C |
15: 44,410,437 (GRCm39) |
N2648T |
possibly damaging |
Het |
| Sema5a |
G |
T |
15: 32,686,793 (GRCm39) |
M968I |
probably benign |
Het |
| Slc33a1 |
A |
G |
3: 63,871,167 (GRCm39) |
Y149H |
probably damaging |
Het |
| Tln2 |
T |
A |
9: 67,261,764 (GRCm39) |
R658S |
probably benign |
Het |
| Tmem30c |
T |
C |
16: 57,090,385 (GRCm39) |
N274S |
possibly damaging |
Het |
| Tor3a |
A |
G |
1: 156,483,270 (GRCm39) |
L384P |
probably damaging |
Het |
| Trpm3 |
T |
A |
19: 22,425,705 (GRCm39) |
L20* |
probably null |
Het |
| Ttn |
T |
A |
2: 76,560,556 (GRCm39) |
I20955F |
probably damaging |
Het |
| Usp15 |
A |
T |
10: 122,949,545 (GRCm39) |
S908R |
probably benign |
Het |
| Zfp866 |
A |
G |
8: 70,218,690 (GRCm39) |
L310P |
probably damaging |
Het |
|
| Other mutations in Rufy1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01131:Rufy1
|
APN |
11 |
50,282,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01640:Rufy1
|
APN |
11 |
50,281,205 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01829:Rufy1
|
APN |
11 |
50,307,071 (GRCm39) |
nonsense |
probably null |
|
|
IGL02559:Rufy1
|
APN |
11 |
50,311,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03409:Rufy1
|
APN |
11 |
50,297,310 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0053:Rufy1
|
UTSW |
11 |
50,292,292 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0053:Rufy1
|
UTSW |
11 |
50,292,292 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0193:Rufy1
|
UTSW |
11 |
50,280,679 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1028:Rufy1
|
UTSW |
11 |
50,305,425 (GRCm39) |
splice site |
probably null |
|
|
R1591:Rufy1
|
UTSW |
11 |
50,285,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1818:Rufy1
|
UTSW |
11 |
50,305,399 (GRCm39) |
missense |
probably benign |
0.43 |
|
R1952:Rufy1
|
UTSW |
11 |
50,297,233 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2228:Rufy1
|
UTSW |
11 |
50,288,611 (GRCm39) |
splice site |
probably null |
|
|
R2982:Rufy1
|
UTSW |
11 |
50,310,535 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4837:Rufy1
|
UTSW |
11 |
50,292,320 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4874:Rufy1
|
UTSW |
11 |
50,297,277 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4959:Rufy1
|
UTSW |
11 |
50,292,315 (GRCm39) |
missense |
probably benign |
|
|
R4968:Rufy1
|
UTSW |
11 |
50,301,434 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5426:Rufy1
|
UTSW |
11 |
50,312,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5966:Rufy1
|
UTSW |
11 |
50,292,315 (GRCm39) |
missense |
probably benign |
|
|
R6129:Rufy1
|
UTSW |
11 |
50,308,075 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6930:Rufy1
|
UTSW |
11 |
50,289,207 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7073:Rufy1
|
UTSW |
11 |
50,295,290 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7462:Rufy1
|
UTSW |
11 |
50,298,655 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7646:Rufy1
|
UTSW |
11 |
50,301,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7951:Rufy1
|
UTSW |
11 |
50,321,736 (GRCm39) |
missense |
probably benign |
|
|
R7971:Rufy1
|
UTSW |
11 |
50,312,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8308:Rufy1
|
UTSW |
11 |
50,297,233 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8773:Rufy1
|
UTSW |
11 |
50,321,796 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R8934:Rufy1
|
UTSW |
11 |
50,298,705 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9205:Rufy1
|
UTSW |
11 |
50,289,301 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAATTTCCGGCTTTCTAGGAG -3'
(R):5'- CTGATGGCATCCTTCATCTTTCAGG -3'
Sequencing Primer
(F):5'- CTTTCTAGGAGCGCCAGC -3'
(R):5'- GCCCTAAGATCCAGCATGTTTAAAG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation