Incidental Mutation 'R3932:Rubcn'
| ID |
308527 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rubcn
|
| Ensembl Gene |
ENSMUSG00000035629 |
| Gene Name |
RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein |
| Synonyms |
1700021K19Rik |
| MMRRC Submission |
040919-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.888)
|
| Stock # |
R3932 (G1)
|
| Quality Score |
176 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
32642072-32698121 bp(-) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 32649629 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155943
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040986]
[ENSMUST00000089684]
[ENSMUST00000115105]
[ENSMUST00000115105]
[ENSMUST00000119810]
[ENSMUST00000119810]
[ENSMUST00000231478]
[ENSMUST00000232269]
|
| AlphaFold |
Q80U62 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000040986
|
| SMART Domains |
Protein: ENSMUSP00000048811
Gene: ENSMUSG00000035629
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
20 |
N/A |
INTRINSIC |
|
RUN
|
123 |
183 |
1.67e-15 |
SMART |
|
low complexity region
|
230 |
254 |
N/A |
INTRINSIC |
|
low complexity region
|
339 |
371 |
N/A |
INTRINSIC |
|
Blast:DUF4206
|
469 |
687 |
1e-66 |
BLAST |
|
DUF4206
|
706 |
908 |
1.66e-113 |
SMART |
|
low complexity region
|
915 |
941 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000089684
|
| SMART Domains |
Protein: ENSMUSP00000087114
Gene: ENSMUSG00000035629
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
20 |
N/A |
INTRINSIC |
|
RUN
|
123 |
183 |
1.67e-15 |
SMART |
|
low complexity region
|
230 |
254 |
N/A |
INTRINSIC |
|
low complexity region
|
339 |
371 |
N/A |
INTRINSIC |
|
Blast:DUF4206
|
484 |
702 |
1e-66 |
BLAST |
|
DUF4206
|
721 |
923 |
1.66e-113 |
SMART |
|
low complexity region
|
930 |
956 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000115105
|
| SMART Domains |
Protein: ENSMUSP00000110757
Gene: ENSMUSG00000035629
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
20 |
N/A |
INTRINSIC |
|
RUN
|
123 |
183 |
1.67e-15 |
SMART |
|
low complexity region
|
230 |
254 |
N/A |
INTRINSIC |
|
low complexity region
|
340 |
357 |
N/A |
INTRINSIC |
|
Blast:DUF4206
|
455 |
673 |
1e-66 |
BLAST |
|
DUF4206
|
692 |
894 |
1.66e-113 |
SMART |
|
low complexity region
|
901 |
927 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000115105
|
| SMART Domains |
Protein: ENSMUSP00000110757
Gene: ENSMUSG00000035629
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
20 |
N/A |
INTRINSIC |
|
RUN
|
123 |
183 |
1.67e-15 |
SMART |
|
low complexity region
|
230 |
254 |
N/A |
INTRINSIC |
|
low complexity region
|
340 |
357 |
N/A |
INTRINSIC |
|
Blast:DUF4206
|
455 |
673 |
1e-66 |
BLAST |
|
DUF4206
|
692 |
894 |
1.66e-113 |
SMART |
|
low complexity region
|
901 |
927 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000119810
|
| SMART Domains |
Protein: ENSMUSP00000113087
Gene: ENSMUSG00000035629
| Domain | Start | End | E-Value | Type |
|---|
|
RUN
|
62 |
122 |
1.67e-15 |
SMART |
|
low complexity region
|
169 |
193 |
N/A |
INTRINSIC |
|
low complexity region
|
278 |
310 |
N/A |
INTRINSIC |
|
Blast:DUF4206
|
408 |
626 |
6e-67 |
BLAST |
|
DUF4206
|
645 |
847 |
1.66e-113 |
SMART |
|
low complexity region
|
854 |
880 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000119810
|
| SMART Domains |
Protein: ENSMUSP00000113087
Gene: ENSMUSG00000035629
| Domain | Start | End | E-Value | Type |
|---|
|
RUN
|
62 |
122 |
1.67e-15 |
SMART |
|
low complexity region
|
169 |
193 |
N/A |
INTRINSIC |
|
low complexity region
|
278 |
310 |
N/A |
INTRINSIC |
|
Blast:DUF4206
|
408 |
626 |
6e-67 |
BLAST |
|
DUF4206
|
645 |
847 |
1.66e-113 |
SMART |
|
low complexity region
|
854 |
880 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135480
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140229
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152920
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000231478
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000232269
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 94.1%
|
| Validation Efficiency |
100% (52/52) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a negative regulator of autophagy and endocytic trafficking and controls endosome maturation. This protein contains two conserved domains, an N-terminal RUN domain and a C-terminal DUF4206 domain. The RUN domain is involved in Ras-like GTPase signaling, and the DUF4206 domain contains a diacylglycerol (DAG) binding-like motif. Mutation in this gene results in deletion of the DAG binding-like motif and causes a recessive ataxia. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Apr 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap3b2 |
C |
T |
7: 81,123,598 (GRCm39) |
|
probably benign |
Het |
| Arl1 |
C |
T |
10: 88,569,398 (GRCm39) |
|
probably benign |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Atp10a |
T |
C |
7: 58,476,852 (GRCm39) |
M1189T |
possibly damaging |
Het |
| Bcl2l14 |
A |
G |
6: 134,400,771 (GRCm39) |
D64G |
probably damaging |
Het |
| Cdc34b |
G |
A |
11: 94,633,441 (GRCm39) |
V214M |
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,665,619 (GRCm39) |
T2985A |
probably benign |
Het |
| Clcc1 |
T |
C |
3: 108,580,682 (GRCm39) |
M332T |
probably damaging |
Het |
| Coch |
T |
C |
12: 51,650,121 (GRCm39) |
I370T |
probably damaging |
Het |
| Ctdnep1 |
A |
G |
11: 69,880,400 (GRCm39) |
|
probably benign |
Het |
| Edar |
C |
T |
10: 58,446,164 (GRCm39) |
C221Y |
probably damaging |
Het |
| Fam135b |
T |
A |
15: 71,322,280 (GRCm39) |
Q1295L |
probably benign |
Het |
| Fam184a |
C |
T |
10: 53,575,397 (GRCm39) |
A71T |
probably damaging |
Het |
| Fbxw10 |
A |
G |
11: 62,759,983 (GRCm39) |
|
probably benign |
Het |
| Frmd4a |
T |
C |
2: 4,542,071 (GRCm39) |
W247R |
probably damaging |
Het |
| Gcn1 |
A |
G |
5: 115,725,893 (GRCm39) |
H553R |
probably benign |
Het |
| Grin3a |
C |
T |
4: 49,672,472 (GRCm39) |
|
probably null |
Het |
| H2-Q6 |
C |
T |
17: 35,644,542 (GRCm39) |
|
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,242,879 (GRCm39) |
V670A |
probably damaging |
Het |
| Med10 |
A |
G |
13: 69,958,101 (GRCm39) |
N18D |
probably damaging |
Het |
| Mgat4b |
T |
A |
11: 50,124,165 (GRCm39) |
H368Q |
possibly damaging |
Het |
| Morn5 |
C |
A |
2: 35,943,035 (GRCm39) |
T45N |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Msl3 |
C |
T |
X: 167,454,813 (GRCm39) |
A87T |
probably damaging |
Het |
| Myrf |
T |
C |
19: 10,195,515 (GRCm39) |
T432A |
probably damaging |
Het |
| Nalf2 |
G |
A |
X: 98,865,470 (GRCm39) |
V266M |
possibly damaging |
Het |
| Nav3 |
T |
A |
10: 109,529,896 (GRCm39) |
E2148D |
probably damaging |
Het |
| Nfe2l3 |
A |
G |
6: 51,433,595 (GRCm39) |
T236A |
possibly damaging |
Het |
| Odc1 |
T |
A |
12: 17,598,801 (GRCm39) |
F227Y |
probably benign |
Het |
| Opa1 |
A |
T |
16: 29,429,698 (GRCm39) |
E401D |
probably damaging |
Het |
| Or5b21 |
T |
C |
19: 12,839,994 (GRCm39) |
M285T |
possibly damaging |
Het |
| Pdcd1 |
T |
C |
1: 93,968,989 (GRCm39) |
I110V |
probably benign |
Het |
| Pde5a |
G |
A |
3: 122,554,545 (GRCm39) |
E212K |
probably damaging |
Het |
| Plin4 |
A |
G |
17: 56,413,704 (GRCm39) |
I307T |
probably benign |
Het |
| Rag1 |
T |
C |
2: 101,473,384 (GRCm39) |
Y586C |
probably damaging |
Het |
| Rgs7bp |
T |
C |
13: 105,189,506 (GRCm39) |
M98V |
probably benign |
Het |
| Rgs9 |
A |
G |
11: 109,166,639 (GRCm39) |
|
probably benign |
Het |
| Rin3 |
A |
G |
12: 102,356,342 (GRCm39) |
D961G |
probably damaging |
Het |
| Slc13a2 |
T |
A |
11: 78,289,226 (GRCm39) |
Y495F |
probably damaging |
Het |
| Tfec |
T |
A |
6: 16,845,458 (GRCm39) |
D67V |
probably damaging |
Het |
| Tmem94 |
T |
C |
11: 115,680,080 (GRCm39) |
M30T |
probably benign |
Het |
| Tsbp1 |
A |
G |
17: 34,662,417 (GRCm39) |
T86A |
possibly damaging |
Het |
| Tubgcp6 |
A |
G |
15: 88,988,617 (GRCm39) |
|
probably benign |
Het |
| Vmn2r10 |
C |
A |
5: 109,150,088 (GRCm39) |
A319S |
possibly damaging |
Het |
| Vmn2r85 |
T |
C |
10: 130,254,336 (GRCm39) |
M783V |
probably damaging |
Het |
| Zfp422 |
T |
C |
6: 116,603,420 (GRCm39) |
K193R |
probably benign |
Het |
| Zfp94 |
T |
G |
7: 24,003,112 (GRCm39) |
D110A |
probably benign |
Het |
|
| Other mutations in Rubcn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00654:Rubcn
|
APN |
16 |
32,644,747 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00777:Rubcn
|
APN |
16 |
32,656,933 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01402:Rubcn
|
APN |
16 |
32,647,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01404:Rubcn
|
APN |
16 |
32,647,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02255:Rubcn
|
APN |
16 |
32,647,715 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03019:Rubcn
|
APN |
16 |
32,647,077 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03388:Rubcn
|
APN |
16 |
32,661,938 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0254:Rubcn
|
UTSW |
16 |
32,668,316 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0373:Rubcn
|
UTSW |
16 |
32,656,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0636:Rubcn
|
UTSW |
16 |
32,649,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0839:Rubcn
|
UTSW |
16 |
32,647,713 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0967:Rubcn
|
UTSW |
16 |
32,646,087 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1711:Rubcn
|
UTSW |
16 |
32,663,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1819:Rubcn
|
UTSW |
16 |
32,647,284 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1840:Rubcn
|
UTSW |
16 |
32,646,542 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R2511:Rubcn
|
UTSW |
16 |
32,667,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3933:Rubcn
|
UTSW |
16 |
32,649,629 (GRCm39) |
splice site |
probably null |
|
|
R4384:Rubcn
|
UTSW |
16 |
32,677,272 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4788:Rubcn
|
UTSW |
16 |
32,656,778 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4852:Rubcn
|
UTSW |
16 |
32,663,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4921:Rubcn
|
UTSW |
16 |
32,667,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4950:Rubcn
|
UTSW |
16 |
32,663,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5234:Rubcn
|
UTSW |
16 |
32,656,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5527:Rubcn
|
UTSW |
16 |
32,647,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5616:Rubcn
|
UTSW |
16 |
32,647,293 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5823:Rubcn
|
UTSW |
16 |
32,670,091 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6970:Rubcn
|
UTSW |
16 |
32,688,514 (GRCm39) |
intron |
probably benign |
|
|
R7120:Rubcn
|
UTSW |
16 |
32,656,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7121:Rubcn
|
UTSW |
16 |
32,656,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7221:Rubcn
|
UTSW |
16 |
32,687,293 (GRCm39) |
splice site |
probably null |
|
|
R7833:Rubcn
|
UTSW |
16 |
32,688,644 (GRCm39) |
start gained |
probably benign |
|
|
R8108:Rubcn
|
UTSW |
16 |
32,677,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8211:Rubcn
|
UTSW |
16 |
32,656,913 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8923:Rubcn
|
UTSW |
16 |
32,646,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9046:Rubcn
|
UTSW |
16 |
32,661,940 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9587:Rubcn
|
UTSW |
16 |
32,663,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9694:Rubcn
|
UTSW |
16 |
32,663,481 (GRCm39) |
missense |
probably benign |
0.22 |
|
X0065:Rubcn
|
UTSW |
16 |
32,668,355 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
Z1176:Rubcn
|
UTSW |
16 |
32,663,533 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Rubcn
|
UTSW |
16 |
32,645,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTACTTAAGATGGGCACTCGGC -3'
(R):5'- TGCATGGAATGTAGCACCTAG -3'
Sequencing Primer
(F):5'- TGGTGAAACTGCCATTGTACC -3'
(R):5'- CTAGCGGCCACCCCATC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation