Incidental Mutation 'R0839:Rubcn'
ID |
78133 |
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 |
039018-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.905)
|
Stock # |
R0839 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
32642072-32698121 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 32647713 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 681
(I681M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155943
(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: I681M
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000048811 Gene: ENSMUSG00000035629 AA Change: I681M
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: I696M
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000087114 Gene: ENSMUSG00000035629 AA Change: I696M
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 |
possibly damaging
Transcript: ENSMUST00000115105
AA Change: I667M
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000110757 Gene: ENSMUSG00000035629 AA Change: I667M
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: I620M
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000113087 Gene: ENSMUSG00000035629 AA Change: I620M
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: I681M
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000231478
AA Change: I696M
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.1%
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
G |
A |
3: 121,920,527 (GRCm39) |
V1083M |
probably damaging |
Het |
Aco2 |
A |
G |
15: 81,791,736 (GRCm39) |
|
probably null |
Het |
AI661453 |
A |
T |
17: 47,747,752 (GRCm39) |
Q8L |
probably null |
Het |
Ankrd42 |
T |
C |
7: 92,261,980 (GRCm39) |
D295G |
possibly damaging |
Het |
Ccdc73 |
A |
T |
2: 104,821,442 (GRCm39) |
I464L |
probably benign |
Het |
Cdc5l |
A |
C |
17: 45,704,073 (GRCm39) |
M717R |
probably benign |
Het |
Col4a1 |
G |
A |
8: 11,271,015 (GRCm39) |
P809S |
probably damaging |
Het |
Dctn1 |
T |
C |
6: 83,167,459 (GRCm39) |
M358T |
possibly damaging |
Het |
Dgkz |
A |
G |
2: 91,765,456 (GRCm39) |
S799P |
probably benign |
Het |
Dna2 |
T |
C |
10: 62,805,561 (GRCm39) |
C933R |
probably damaging |
Het |
Dock6 |
T |
C |
9: 21,729,188 (GRCm39) |
N1275S |
probably benign |
Het |
Ect2l |
A |
G |
10: 18,017,652 (GRCm39) |
I659T |
probably benign |
Het |
Ets1 |
T |
A |
9: 32,645,357 (GRCm39) |
Y201* |
probably null |
Het |
Gle1 |
T |
A |
2: 29,848,462 (GRCm39) |
C679S |
probably benign |
Het |
Gm10118 |
T |
G |
10: 63,762,643 (GRCm39) |
|
probably benign |
Het |
Guk1 |
G |
A |
11: 59,075,921 (GRCm39) |
R146C |
probably damaging |
Het |
H2-Q7 |
A |
G |
17: 35,658,688 (GRCm39) |
S109G |
probably damaging |
Het |
Igfn1 |
A |
G |
1: 135,882,418 (GRCm39) |
V2809A |
probably damaging |
Het |
Izumo1 |
T |
A |
7: 45,276,536 (GRCm39) |
D366E |
probably benign |
Het |
Kctd20 |
A |
T |
17: 29,176,872 (GRCm39) |
M1L |
possibly damaging |
Het |
Lct |
C |
T |
1: 128,214,346 (GRCm39) |
A1809T |
probably benign |
Het |
Manea |
T |
C |
4: 26,327,983 (GRCm39) |
I353V |
probably damaging |
Het |
Mybl2 |
T |
C |
2: 162,917,688 (GRCm39) |
Y65H |
probably benign |
Het |
Myh11 |
C |
T |
16: 14,021,042 (GRCm39) |
E1744K |
probably damaging |
Het |
Neb |
T |
C |
2: 52,167,560 (GRCm39) |
D1922G |
probably damaging |
Het |
Nepro |
C |
A |
16: 44,556,382 (GRCm39) |
D513E |
probably benign |
Het |
Nnt |
A |
T |
13: 119,531,192 (GRCm39) |
I185K |
possibly damaging |
Het |
Npat |
A |
T |
9: 53,456,480 (GRCm39) |
Q17L |
probably damaging |
Het |
Nup155 |
A |
G |
15: 8,175,071 (GRCm39) |
E956G |
possibly damaging |
Het |
Or1e35 |
T |
A |
11: 73,798,138 (GRCm39) |
Y60F |
probably damaging |
Het |
Or1x6 |
A |
G |
11: 50,939,254 (GRCm39) |
I107V |
probably benign |
Het |
Or2a14 |
T |
A |
6: 43,130,558 (GRCm39) |
F106L |
probably benign |
Het |
Or4q3 |
A |
G |
14: 50,583,545 (GRCm39) |
V118A |
probably damaging |
Het |
Or8g18 |
A |
T |
9: 39,149,146 (GRCm39) |
N191K |
possibly damaging |
Het |
Or8g4 |
A |
T |
9: 39,661,687 (GRCm39) |
I2L |
probably benign |
Het |
Or9e1 |
G |
A |
11: 58,732,478 (GRCm39) |
M179I |
probably benign |
Het |
Pah |
T |
C |
10: 87,357,924 (GRCm39) |
S16P |
probably damaging |
Het |
Pcdh15 |
C |
A |
10: 74,462,614 (GRCm39) |
P1365Q |
probably null |
Het |
Pds5b |
G |
T |
5: 150,688,427 (GRCm39) |
V640F |
probably benign |
Het |
Pgam5 |
A |
T |
5: 110,414,996 (GRCm39) |
H72Q |
probably benign |
Het |
Plagl2 |
C |
A |
2: 153,074,461 (GRCm39) |
A147S |
probably damaging |
Het |
Ppfia4 |
A |
T |
1: 134,256,545 (GRCm39) |
L113Q |
probably null |
Het |
Ppp1r12a |
T |
C |
10: 108,034,722 (GRCm39) |
V89A |
probably damaging |
Het |
Ptprc |
A |
G |
1: 138,028,870 (GRCm39) |
Y443H |
possibly damaging |
Het |
Ralgapb |
T |
C |
2: 158,315,203 (GRCm39) |
|
probably null |
Het |
Rgsl1 |
A |
G |
1: 153,677,980 (GRCm39) |
|
probably null |
Het |
Scaf11 |
A |
G |
15: 96,321,434 (GRCm39) |
L169S |
probably damaging |
Het |
Scgb1b27 |
A |
G |
7: 33,721,276 (GRCm39) |
K55E |
probably benign |
Het |
Sos1 |
A |
T |
17: 80,741,159 (GRCm39) |
I542N |
probably damaging |
Het |
Syf2 |
T |
A |
4: 134,663,374 (GRCm39) |
V182D |
probably damaging |
Het |
Tapbp |
T |
C |
17: 34,144,717 (GRCm39) |
V271A |
probably benign |
Het |
Tmem33 |
T |
A |
5: 67,421,651 (GRCm39) |
L60Q |
probably damaging |
Het |
Tmf1 |
A |
G |
6: 97,153,284 (GRCm39) |
V263A |
probably damaging |
Het |
Vps13c |
T |
C |
9: 67,806,020 (GRCm39) |
V798A |
probably benign |
Het |
Zfp384 |
C |
A |
6: 125,013,631 (GRCm39) |
D550E |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AAAACTCGCACAGTGGGACCTATG -3'
(R):5'- TGGGCTGACCCAGTAAACCCTAAC -3'
Sequencing Primer
(F):5'- AGCCAGTTTCTCCAGGATATG -3'
(R):5'- CATCCTTACGAGAGTCTTCTCG -3'
|
Posted On |
2013-10-16 |