Incidental Mutation 'R8923:Rubcn'
ID |
679419 |
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 |
068768-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.905)
|
Stock # |
R8923 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
32642072-32698121 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 32646049 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 828
(T828K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000087114
(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: T813K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000048811 Gene: ENSMUSG00000035629 AA Change: T813K
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: T828K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000087114 Gene: ENSMUSG00000035629 AA Change: T828K
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: T799K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000110757 Gene: ENSMUSG00000035629 AA Change: T799K
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: T752K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113087 Gene: ENSMUSG00000035629 AA Change: T752K
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 damaging
Transcript: ENSMUST00000231478
AA Change: T828K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000232269
AA Change: T813K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
98% (53/54) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ano1 |
A |
G |
7: 144,204,288 (GRCm39) |
Y308H |
possibly damaging |
Het |
Ano6 |
T |
C |
15: 95,811,428 (GRCm39) |
I176T |
probably damaging |
Het |
Ap3b2 |
T |
C |
7: 81,126,931 (GRCm39) |
E273G |
probably benign |
Het |
Arid1a |
A |
G |
4: 133,412,304 (GRCm39) |
I1245T |
unknown |
Het |
Ash1l |
T |
C |
3: 88,892,974 (GRCm39) |
S1618P |
possibly damaging |
Het |
Atp5f1e |
G |
T |
2: 174,304,309 (GRCm39) |
S49* |
probably null |
Het |
Bsdc1 |
C |
T |
4: 129,355,405 (GRCm39) |
|
probably benign |
Het |
Ccni |
T |
C |
5: 93,335,943 (GRCm39) |
H152R |
probably damaging |
Het |
Cdk5 |
A |
G |
5: 24,625,284 (GRCm39) |
V208A |
possibly damaging |
Het |
Cmtm5 |
G |
A |
14: 55,176,345 (GRCm39) |
D137N |
probably damaging |
Het |
Cyp3a41b |
A |
G |
5: 145,521,448 (GRCm39) |
M1T |
probably null |
Het |
Cyp3a44 |
A |
T |
5: 145,736,171 (GRCm39) |
V93E |
probably damaging |
Het |
Dhrs2 |
A |
T |
14: 55,478,309 (GRCm39) |
I241F |
probably benign |
Het |
Dip2c |
A |
G |
13: 9,673,901 (GRCm39) |
T1114A |
probably damaging |
Het |
Dsel |
T |
C |
1: 111,788,284 (GRCm39) |
I750M |
possibly damaging |
Het |
Dync2h1 |
T |
C |
9: 7,168,515 (GRCm39) |
K398E |
probably benign |
Het |
Efcab12 |
G |
C |
6: 115,787,982 (GRCm39) |
T660S |
possibly damaging |
Het |
Ep400 |
A |
G |
5: 110,831,864 (GRCm39) |
L2126P |
unknown |
Het |
Ercc1 |
T |
A |
7: 19,081,062 (GRCm39) |
|
probably benign |
Het |
Flnc |
G |
T |
6: 29,452,236 (GRCm39) |
D1687Y |
probably damaging |
Het |
Frrs1 |
A |
T |
3: 116,696,070 (GRCm39) |
I530F |
possibly damaging |
Het |
Gp5 |
G |
T |
16: 30,128,222 (GRCm39) |
L151I |
probably damaging |
Het |
H2-Q5 |
A |
G |
17: 35,613,982 (GRCm39) |
D177G |
|
Het |
Itgal |
A |
T |
7: 126,895,533 (GRCm39) |
|
probably benign |
Het |
Klhl33 |
A |
T |
14: 51,129,882 (GRCm39) |
C277* |
probably null |
Het |
Lefty1 |
T |
A |
1: 180,765,318 (GRCm39) |
C295* |
probably null |
Het |
Lmo7 |
A |
T |
14: 102,137,679 (GRCm39) |
T794S |
probably benign |
Het |
Mss51 |
A |
G |
14: 20,537,177 (GRCm39) |
M97T |
possibly damaging |
Het |
Mtmr11 |
C |
T |
3: 96,072,188 (GRCm39) |
P262S |
probably damaging |
Het |
Muc15 |
A |
T |
2: 110,562,212 (GRCm39) |
N216I |
probably damaging |
Het |
Muc16 |
A |
T |
9: 18,549,972 (GRCm39) |
D5440E |
probably benign |
Het |
Myt1l |
A |
G |
12: 29,960,800 (GRCm39) |
K1038E |
unknown |
Het |
Naa15 |
G |
A |
3: 51,367,443 (GRCm39) |
V539M |
probably damaging |
Het |
Or10al2 |
A |
T |
17: 37,983,702 (GRCm39) |
I263F |
probably benign |
Het |
Or1e26 |
T |
C |
11: 73,480,076 (GRCm39) |
I163V |
probably benign |
Het |
Or5ac20 |
G |
C |
16: 59,104,399 (GRCm39) |
L154V |
probably benign |
Het |
Parpbp |
C |
T |
10: 87,947,474 (GRCm39) |
V387I |
probably benign |
Het |
Pbxip1 |
T |
C |
3: 89,352,921 (GRCm39) |
I189T |
possibly damaging |
Het |
Prkci |
T |
A |
3: 31,095,250 (GRCm39) |
Y111* |
probably null |
Het |
Prkd2 |
C |
G |
7: 16,599,682 (GRCm39) |
T715R |
probably damaging |
Het |
Rab40c |
A |
C |
17: 26,102,664 (GRCm39) |
S262A |
probably benign |
Het |
Rad51d |
A |
G |
11: 82,773,798 (GRCm39) |
L164P |
probably damaging |
Het |
Rgs22 |
T |
A |
15: 36,093,106 (GRCm39) |
K513I |
probably damaging |
Het |
Sdha |
G |
A |
13: 74,487,179 (GRCm39) |
T203M |
probably damaging |
Het |
Sesn3 |
T |
C |
9: 14,217,562 (GRCm39) |
|
probably null |
Het |
Spag8 |
T |
A |
4: 43,651,471 (GRCm39) |
T468S |
probably damaging |
Het |
Spdl1 |
T |
C |
11: 34,704,478 (GRCm39) |
K452E |
possibly damaging |
Het |
Stat5a |
T |
C |
11: 100,771,308 (GRCm39) |
F597S |
|
Het |
Sult1b1 |
A |
C |
5: 87,662,893 (GRCm39) |
F269C |
probably damaging |
Het |
Ubap1 |
A |
G |
4: 41,379,170 (GRCm39) |
N128S |
probably benign |
Het |
Utp20 |
G |
A |
10: 88,627,604 (GRCm39) |
Q954* |
probably null |
Het |
Vmn1r173 |
T |
A |
7: 23,401,768 (GRCm39) |
M1K |
probably null |
Het |
Wdfy1 |
A |
G |
1: 79,684,017 (GRCm39) |
S373P |
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 |
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 |
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'- GCCGCATGAGGAGCTAAATG -3'
(R):5'- AATACCTGGGCTGGCTGAAC -3'
Sequencing Primer
(F):5'- GGAGCTAAATGACAGGAACCC -3'
(R):5'- GCTGGCTGAACGTCTTTGTCC -3'
|
Posted On |
2021-08-02 |