Incidental Mutation 'IGL00777:Rubcn'
ID |
8422 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rubcn
|
Ensembl Gene |
ENSMUSG00000035629 |
Gene Name |
RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein |
Synonyms |
1700021K19Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.905)
|
Stock # |
IGL00777
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
32642072-32698121 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 32656933 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 467
(C467R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110757
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040986]
[ENSMUST00000089684]
[ENSMUST00000115105]
[ENSMUST00000119810]
[ENSMUST00000231478]
[ENSMUST00000232269]
|
AlphaFold |
Q80U62 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000040986
AA Change: C481R
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000048811 Gene: ENSMUSG00000035629 AA Change: C481R
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 |
possibly damaging
Transcript: ENSMUST00000089684
AA Change: C496R
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000087114 Gene: ENSMUSG00000035629 AA Change: C496R
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 damaging
Transcript: ENSMUST00000115105
AA Change: C467R
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000110757 Gene: ENSMUSG00000035629 AA Change: C467R
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 |
possibly damaging
Transcript: ENSMUST00000119810
AA Change: C420R
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000113087 Gene: ENSMUSG00000035629 AA Change: C420R
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: ENSMUST00000153556
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000231478
AA Change: C496R
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000232269
AA Change: C481R
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgra3 |
A |
G |
5: 50,183,100 (GRCm39) |
I82T |
probably damaging |
Het |
Cd72 |
T |
C |
4: 43,448,365 (GRCm39) |
Y305C |
possibly damaging |
Het |
Cldn34c1 |
T |
C |
X: 122,052,570 (GRCm39) |
L103P |
probably damaging |
Het |
Dhtkd1 |
A |
T |
2: 5,934,468 (GRCm39) |
L234H |
probably damaging |
Het |
H1f4 |
T |
A |
13: 23,806,005 (GRCm39) |
|
probably benign |
Het |
Hgd |
A |
G |
16: 37,433,611 (GRCm39) |
T77A |
probably damaging |
Het |
Itgad |
A |
T |
7: 127,803,022 (GRCm39) |
T1059S |
probably damaging |
Het |
Klhl20 |
T |
C |
1: 160,937,325 (GRCm39) |
T17A |
probably benign |
Het |
Lct |
T |
C |
1: 128,215,293 (GRCm39) |
D1761G |
probably benign |
Het |
Mmp23 |
T |
G |
4: 155,735,464 (GRCm39) |
Y334S |
possibly damaging |
Het |
Ncapg |
A |
G |
5: 45,853,107 (GRCm39) |
S858G |
possibly damaging |
Het |
Nsd1 |
G |
A |
13: 55,386,548 (GRCm39) |
G101E |
probably damaging |
Het |
Pdia3 |
T |
A |
2: 121,260,037 (GRCm39) |
L192Q |
probably damaging |
Het |
Phex |
A |
G |
X: 155,960,528 (GRCm39) |
L672P |
probably damaging |
Het |
Reln |
A |
G |
5: 22,223,848 (GRCm39) |
|
probably null |
Het |
Rfk |
T |
A |
19: 17,372,700 (GRCm39) |
V74E |
probably benign |
Het |
Rufy2 |
G |
A |
10: 62,826,833 (GRCm39) |
C124Y |
probably damaging |
Het |
Slc8a1 |
A |
G |
17: 81,956,009 (GRCm39) |
I343T |
probably damaging |
Het |
Smyd4 |
T |
A |
11: 75,281,634 (GRCm39) |
M369K |
probably benign |
Het |
Spata31e2 |
C |
A |
1: 26,721,173 (GRCm39) |
D1336Y |
probably damaging |
Het |
Tmem131l |
G |
T |
3: 83,806,597 (GRCm39) |
P1408T |
probably damaging |
Het |
Tmprss11f |
A |
G |
5: 86,671,924 (GRCm39) |
Y423H |
probably damaging |
Het |
Wdr70 |
A |
T |
15: 8,049,088 (GRCm39) |
M303K |
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 |
|
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 |
R3932:Rubcn
|
UTSW |
16 |
32,649,629 (GRCm39) |
splice site |
probably null |
|
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 |
|
Posted On |
2012-12-06 |