Incidental Mutation 'R0967:Rubcn'
| ID |
83923 |
| 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 |
039096-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.888)
|
| Stock # |
R0967 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
32642072-32698121 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 32646087 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 815
(E815D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155868
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040986]
[ENSMUST00000089684]
[ENSMUST00000115105]
[ENSMUST00000119810]
[ENSMUST00000232269]
[ENSMUST00000231478]
|
| AlphaFold |
Q80U62 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040986
AA Change: E800D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000048811
Gene: ENSMUSG00000035629
AA Change: E800D
| 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 benign
Transcript: ENSMUST00000089684
AA Change: E815D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000087114
Gene: ENSMUSG00000035629
AA Change: E815D
| 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 benign
Transcript: ENSMUST00000115105
AA Change: E786D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000110757
Gene: ENSMUSG00000035629
AA Change: E786D
| 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 benign
Transcript: ENSMUST00000119810
AA Change: E739D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000113087
Gene: ENSMUSG00000035629
AA Change: E739D
| 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 benign
Transcript: ENSMUST00000232269
AA Change: E800D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231478
AA Change: E815D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Meta Mutation Damage Score |
0.0665 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.7%
- 10x: 96.1%
- 20x: 90.5%
|
| Validation Efficiency |
100% (44/44) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
G |
T |
18: 59,105,812 (GRCm39) |
E736* |
probably null |
Het |
| Atxn7l3 |
C |
G |
11: 102,183,261 (GRCm39) |
|
probably benign |
Het |
| Camk1g |
T |
C |
1: 193,032,604 (GRCm39) |
E269G |
probably damaging |
Het |
| Ccrl2 |
G |
A |
9: 110,884,754 (GRCm39) |
T248M |
probably benign |
Het |
| Chd9 |
T |
C |
8: 91,716,107 (GRCm39) |
S421P |
probably damaging |
Het |
| Cndp1 |
G |
A |
18: 84,652,777 (GRCm39) |
|
probably benign |
Het |
| Cplane2 |
T |
C |
4: 140,947,162 (GRCm39) |
M181T |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,721,227 (GRCm39) |
E1468G |
probably null |
Het |
| Cyc1 |
T |
C |
15: 76,229,848 (GRCm39) |
|
probably benign |
Het |
| Fli1 |
T |
A |
9: 32,372,745 (GRCm39) |
T98S |
probably benign |
Het |
| Gk2 |
T |
C |
5: 97,604,155 (GRCm39) |
S228G |
probably benign |
Het |
| Gse1 |
T |
A |
8: 121,297,594 (GRCm39) |
|
probably benign |
Het |
| Hgf |
T |
A |
5: 16,798,839 (GRCm39) |
|
probably benign |
Het |
| Hif1a |
G |
A |
12: 73,984,444 (GRCm39) |
V300I |
possibly damaging |
Het |
| Hsd17b4 |
C |
A |
18: 50,316,328 (GRCm39) |
H652N |
probably benign |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Kif5c |
T |
A |
2: 49,588,128 (GRCm39) |
|
probably benign |
Het |
| Lgr6 |
T |
C |
1: 134,921,750 (GRCm39) |
Y198C |
probably damaging |
Het |
| Lpcat2b |
T |
A |
5: 107,582,084 (GRCm39) |
M471K |
possibly damaging |
Het |
| Med21 |
A |
G |
6: 146,551,697 (GRCm39) |
E116G |
probably benign |
Het |
| Mos |
A |
G |
4: 3,870,932 (GRCm39) |
S295P |
probably benign |
Het |
| Ms4a15 |
A |
T |
19: 10,956,685 (GRCm39) |
V209E |
probably damaging |
Het |
| Mttp |
A |
G |
3: 137,798,484 (GRCm39) |
V804A |
probably benign |
Het |
| Or10ah1-ps1 |
A |
G |
5: 143,123,594 (GRCm39) |
M121T |
probably damaging |
Het |
| Or52n4b |
T |
C |
7: 108,143,996 (GRCm39) |
I86T |
probably damaging |
Het |
| Or5ac23 |
T |
A |
16: 59,149,546 (GRCm39) |
T109S |
possibly damaging |
Het |
| Plagl1 |
T |
C |
10: 13,003,986 (GRCm39) |
|
probably benign |
Het |
| Prpf8 |
T |
A |
11: 75,385,256 (GRCm39) |
V797E |
probably damaging |
Het |
| Rars2 |
A |
G |
4: 34,646,587 (GRCm39) |
D284G |
probably benign |
Het |
| Rassf8 |
T |
C |
6: 145,765,676 (GRCm39) |
|
probably benign |
Het |
| Rfx3 |
A |
G |
19: 27,783,751 (GRCm39) |
|
probably benign |
Het |
| Ripk4 |
A |
T |
16: 97,545,372 (GRCm39) |
M362K |
probably damaging |
Het |
| Scn8a |
A |
G |
15: 100,933,527 (GRCm39) |
Y1577C |
probably damaging |
Het |
| Sec24b |
C |
T |
3: 129,790,431 (GRCm39) |
R698Q |
probably damaging |
Het |
| Ssc5d |
T |
A |
7: 4,947,342 (GRCm39) |
L1232* |
probably null |
Het |
| Usp7 |
A |
T |
16: 8,514,518 (GRCm39) |
|
probably benign |
Het |
| Vmn2r51 |
T |
G |
7: 9,834,012 (GRCm39) |
H342P |
probably damaging |
Het |
| Vmn2r70 |
A |
G |
7: 85,208,827 (GRCm39) |
M550T |
probably damaging |
Het |
| Vmn2r81 |
T |
C |
10: 79,083,857 (GRCm39) |
|
probably benign |
Het |
| Zc3h13 |
T |
C |
14: 75,581,179 (GRCm39) |
I1722T |
possibly 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGCTAAATGACAGGAACCCTGCC -3'
(R):5'- CCCAACTGCCCGTTGTCTCTTAAAG -3'
Sequencing Primer
(F):5'- Gcccacctaagccccac -3'
(R):5'- GTCCAAGGTGAGACACCATTTTC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation