Incidental Mutation 'IGL01402:Rubcn'
ID |
278355 |
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: 0.888)
|
Stock # |
IGL01402
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
32642072-32698121 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 32647666 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 636
(T636M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113087
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040986]
[ENSMUST00000089684]
[ENSMUST00000115105]
[ENSMUST00000119810]
[ENSMUST00000232269]
[ENSMUST00000231478]
|
AlphaFold |
Q80U62 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000040986
AA Change: T697M
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000048811 Gene: ENSMUSG00000035629 AA Change: T697M
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 damaging
Transcript: ENSMUST00000089684
AA Change: T712M
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000087114 Gene: ENSMUSG00000035629 AA Change: T712M
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: T683M
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000110757 Gene: ENSMUSG00000035629 AA Change: T683M
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 damaging
Transcript: ENSMUST00000119810
AA Change: T636M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000113087 Gene: ENSMUSG00000035629 AA Change: T636M
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 damaging
Transcript: ENSMUST00000232269
AA Change: T697M
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000231478
AA Change: T712M
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921524L21Rik |
T |
C |
18: 6,638,653 (GRCm39) |
S351P |
possibly damaging |
Het |
Abca2 |
T |
C |
2: 25,332,015 (GRCm39) |
S1376P |
probably damaging |
Het |
Ablim3 |
A |
G |
18: 62,004,754 (GRCm39) |
Y12H |
probably damaging |
Het |
Akr1b7 |
A |
G |
6: 34,398,052 (GRCm39) |
R294G |
possibly damaging |
Het |
Aldh3b1 |
A |
C |
19: 3,971,205 (GRCm39) |
V153G |
probably benign |
Het |
Alk |
A |
T |
17: 72,181,173 (GRCm39) |
H1372Q |
probably damaging |
Het |
Ano9 |
A |
C |
7: 140,681,955 (GRCm39) |
Y731* |
probably null |
Het |
Apol11b |
G |
A |
15: 77,522,219 (GRCm39) |
T26M |
probably damaging |
Het |
Asl |
T |
C |
5: 130,048,645 (GRCm39) |
E43G |
probably damaging |
Het |
Cd4 |
G |
A |
6: 124,856,341 (GRCm39) |
T50I |
probably benign |
Het |
Cfap43 |
T |
C |
19: 47,784,105 (GRCm39) |
D476G |
probably benign |
Het |
Cpa1 |
A |
G |
6: 30,645,275 (GRCm39) |
H417R |
possibly damaging |
Het |
Cpeb3 |
T |
C |
19: 37,065,948 (GRCm39) |
D407G |
probably benign |
Het |
Dcaf15 |
A |
T |
8: 84,825,026 (GRCm39) |
C469S |
probably damaging |
Het |
Dpy19l4 |
C |
A |
4: 11,273,006 (GRCm39) |
|
probably null |
Het |
E4f1 |
A |
T |
17: 24,663,208 (GRCm39) |
L699Q |
probably damaging |
Het |
Eif4g2 |
A |
G |
7: 110,676,234 (GRCm39) |
F349S |
possibly damaging |
Het |
Ermap |
T |
C |
4: 119,044,355 (GRCm39) |
Y147C |
probably damaging |
Het |
Frk |
A |
C |
10: 34,423,381 (GRCm39) |
E153A |
probably damaging |
Het |
Fubp3 |
G |
A |
2: 31,494,733 (GRCm39) |
|
probably null |
Het |
Gdi2 |
A |
G |
13: 3,614,611 (GRCm39) |
T319A |
probably benign |
Het |
Gjc3 |
A |
G |
5: 137,956,120 (GRCm39) |
F55S |
probably damaging |
Het |
Gm10762 |
C |
T |
2: 128,809,005 (GRCm39) |
|
probably benign |
Het |
Got1 |
A |
G |
19: 43,493,048 (GRCm39) |
I291T |
possibly damaging |
Het |
Gpr179 |
C |
A |
11: 97,229,012 (GRCm39) |
G1048* |
probably null |
Het |
Hectd3 |
G |
T |
4: 116,853,262 (GRCm39) |
R163L |
probably damaging |
Het |
Hectd4 |
T |
C |
5: 121,477,480 (GRCm39) |
|
probably benign |
Het |
Ifnb1 |
T |
C |
4: 88,440,480 (GRCm39) |
R178G |
probably benign |
Het |
Ino80 |
T |
A |
2: 119,287,199 (GRCm39) |
D56V |
possibly damaging |
Het |
Kctd1 |
T |
A |
18: 15,102,610 (GRCm39) |
Q857L |
probably damaging |
Het |
Kdm5a |
T |
A |
6: 120,367,640 (GRCm39) |
L445* |
probably null |
Het |
Lins1 |
G |
A |
7: 66,363,676 (GRCm39) |
V524I |
probably damaging |
Het |
Lrp1 |
A |
T |
10: 127,430,901 (GRCm39) |
Y383N |
probably damaging |
Het |
Malrd1 |
G |
A |
2: 16,106,768 (GRCm39) |
|
probably null |
Het |
Mgam |
A |
C |
6: 40,621,879 (GRCm39) |
K84Q |
probably benign |
Het |
Mlh3 |
A |
T |
12: 85,314,703 (GRCm39) |
F494L |
probably benign |
Het |
Mpped1 |
T |
C |
15: 83,676,414 (GRCm39) |
F60S |
possibly damaging |
Het |
Myo1e |
A |
G |
9: 70,245,048 (GRCm39) |
Y382C |
probably benign |
Het |
Ncor1 |
C |
A |
11: 62,231,300 (GRCm39) |
V836F |
probably damaging |
Het |
Nktr |
G |
A |
9: 121,570,218 (GRCm39) |
|
probably null |
Het |
Or10al4 |
A |
G |
17: 38,037,193 (GRCm39) |
T93A |
probably benign |
Het |
Or4d5 |
A |
G |
9: 40,012,558 (GRCm39) |
I76T |
probably benign |
Het |
Or5k8 |
G |
A |
16: 58,644,958 (GRCm39) |
T38I |
probably damaging |
Het |
Rnf144a |
T |
A |
12: 26,377,300 (GRCm39) |
Y93F |
probably benign |
Het |
Scn5a |
A |
C |
9: 119,315,536 (GRCm39) |
L1724R |
probably damaging |
Het |
Sel1l |
A |
G |
12: 91,808,607 (GRCm39) |
S45P |
possibly damaging |
Het |
Serpina3k |
A |
G |
12: 104,306,882 (GRCm39) |
D38G |
probably benign |
Het |
Sh3bgr |
A |
C |
16: 96,007,690 (GRCm39) |
K18N |
probably damaging |
Het |
Slc28a2 |
T |
G |
2: 122,282,538 (GRCm39) |
I287M |
probably damaging |
Het |
St8sia6 |
T |
C |
2: 13,670,318 (GRCm39) |
N214S |
probably damaging |
Het |
Syt11 |
A |
G |
3: 88,669,523 (GRCm39) |
I123T |
probably benign |
Het |
Tcerg1l |
A |
T |
7: 137,861,568 (GRCm39) |
I387N |
probably damaging |
Het |
Tfg |
C |
A |
16: 56,514,856 (GRCm39) |
|
probably benign |
Het |
Tgm4 |
A |
G |
9: 122,880,519 (GRCm39) |
K307E |
possibly damaging |
Het |
Tmem177 |
T |
C |
1: 119,837,791 (GRCm39) |
D296G |
probably damaging |
Het |
Tmem270 |
C |
T |
5: 134,930,763 (GRCm39) |
|
probably benign |
Het |
Tnrc6b |
G |
T |
15: 80,764,745 (GRCm39) |
G749V |
possibly damaging |
Het |
Trp63 |
C |
A |
16: 25,639,135 (GRCm39) |
|
probably benign |
Het |
Ugt1a8 |
T |
C |
1: 88,015,617 (GRCm39) |
L10P |
probably benign |
Het |
Vmn2r107 |
A |
T |
17: 20,596,009 (GRCm39) |
K854M |
probably damaging |
Het |
Vmn2r45 |
T |
C |
7: 8,484,467 (GRCm39) |
N446S |
probably damaging |
Het |
Vps13c |
A |
T |
9: 67,820,486 (GRCm39) |
|
probably null |
Het |
Wdr91 |
G |
A |
6: 34,865,998 (GRCm39) |
P518L |
probably benign |
Het |
Yap1 |
G |
A |
9: 7,934,742 (GRCm39) |
|
probably benign |
Het |
Zfp282 |
A |
C |
6: 47,874,770 (GRCm39) |
D325A |
probably damaging |
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 |
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 |
2015-04-16 |