Incidental Mutation 'R0019:Rubcnl'
| ID |
15485 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rubcnl
|
| Ensembl Gene |
ENSMUSG00000034959 |
| Gene Name |
RUN and cysteine rich domain containing beclin 1 interacting protein like |
| Synonyms |
5031414D18Rik, LOC380917 |
| MMRRC Submission |
038314-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
R0019 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
75253467-75289972 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 75285703 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045566
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036072]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036072
|
| SMART Domains |
Protein: ENSMUSP00000045566
Gene: ENSMUSG00000034959
| Domain | Start | End | E-Value | Type |
|---|
|
DUF4206
|
463 |
664 |
1.01e-108 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228689
|
| Coding Region Coverage |
- 1x: 83.5%
- 3x: 78.2%
- 10x: 64.4%
- 20x: 48.4%
|
| Validation Efficiency |
91% (93/102) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd13a |
T |
A |
5: 114,924,142 (GRCm39) |
|
probably benign |
Het |
| Arhgef12 |
A |
T |
9: 42,889,529 (GRCm39) |
W1029R |
probably damaging |
Het |
| Aunip |
T |
A |
4: 134,250,823 (GRCm39) |
L256* |
probably null |
Het |
| Bahcc1 |
T |
A |
11: 120,180,597 (GRCm39) |
M2607K |
probably damaging |
Het |
| Bltp3b |
A |
G |
10: 89,611,831 (GRCm39) |
T5A |
probably damaging |
Het |
| Cacng6 |
G |
T |
7: 3,480,384 (GRCm39) |
M152I |
possibly damaging |
Het |
| Cep120 |
A |
G |
18: 53,842,119 (GRCm39) |
|
probably benign |
Het |
| D130043K22Rik |
T |
A |
13: 25,064,795 (GRCm39) |
V737D |
probably damaging |
Het |
| Dock10 |
A |
G |
1: 80,583,642 (GRCm39) |
S187P |
probably damaging |
Het |
| Eogt |
C |
T |
6: 97,111,234 (GRCm39) |
|
probably benign |
Het |
| Fasn |
A |
T |
11: 120,698,824 (GRCm39) |
|
probably benign |
Het |
| Frem2 |
C |
T |
3: 53,431,099 (GRCm39) |
V2745M |
probably damaging |
Het |
| Fshb |
T |
C |
2: 106,887,690 (GRCm39) |
S110G |
probably benign |
Het |
| Gpi1 |
A |
G |
7: 33,920,324 (GRCm39) |
Y144H |
probably damaging |
Het |
| Gsap |
T |
C |
5: 21,475,620 (GRCm39) |
|
probably benign |
Het |
| Helz2 |
C |
A |
2: 180,874,552 (GRCm39) |
G1981C |
probably damaging |
Het |
| Herc3 |
T |
C |
6: 58,862,050 (GRCm39) |
|
probably benign |
Het |
| Il1r2 |
C |
T |
1: 40,164,210 (GRCm39) |
T359M |
probably damaging |
Het |
| Il6st |
T |
C |
13: 112,637,682 (GRCm39) |
C563R |
possibly damaging |
Het |
| Irs1 |
T |
A |
1: 82,264,977 (GRCm39) |
K1080* |
probably null |
Het |
| Itpr1 |
T |
C |
6: 108,331,587 (GRCm39) |
V182A |
probably damaging |
Het |
| Kalrn |
C |
T |
16: 34,018,884 (GRCm39) |
|
probably benign |
Het |
| Kcnj11 |
G |
A |
7: 45,748,363 (GRCm39) |
A320V |
probably benign |
Het |
| Lrig1 |
T |
A |
6: 94,584,330 (GRCm39) |
R905* |
probably null |
Het |
| Lrrc43 |
T |
C |
5: 123,639,378 (GRCm39) |
L469P |
probably damaging |
Het |
| Med29 |
A |
T |
7: 28,090,501 (GRCm39) |
|
probably benign |
Het |
| Mroh7 |
T |
C |
4: 106,578,623 (GRCm39) |
I18M |
probably benign |
Het |
| Nalcn |
A |
C |
14: 123,744,901 (GRCm39) |
C376G |
probably benign |
Het |
| Ncor2 |
C |
T |
5: 125,196,545 (GRCm39) |
|
probably null |
Het |
| Nek1 |
T |
A |
8: 61,542,768 (GRCm39) |
M786K |
probably benign |
Het |
| Nrxn2 |
A |
G |
19: 6,559,987 (GRCm39) |
|
probably benign |
Het |
| Nxpe2 |
T |
C |
9: 48,231,080 (GRCm39) |
I430V |
probably benign |
Het |
| Pcolce2 |
A |
G |
9: 95,577,017 (GRCm39) |
|
probably null |
Het |
| Pdcl |
A |
T |
2: 37,241,932 (GRCm39) |
L273M |
probably damaging |
Het |
| Pml |
A |
T |
9: 58,127,776 (GRCm39) |
S610R |
probably damaging |
Het |
| Polk |
C |
A |
13: 96,641,124 (GRCm39) |
R144S |
probably damaging |
Het |
| Rlf |
A |
G |
4: 121,003,769 (GRCm39) |
V1737A |
possibly damaging |
Het |
| Scn3a |
A |
T |
2: 65,292,045 (GRCm39) |
V1567E |
probably damaging |
Het |
| Scyl2 |
A |
G |
10: 89,495,183 (GRCm39) |
I296T |
probably benign |
Het |
| Slc15a3 |
A |
G |
19: 10,833,404 (GRCm39) |
I474V |
probably damaging |
Het |
| Sstr1 |
T |
C |
12: 58,259,935 (GRCm39) |
L186S |
probably damaging |
Het |
| Tmem108 |
A |
T |
9: 103,366,539 (GRCm39) |
V484D |
possibly damaging |
Het |
| Trim69 |
A |
T |
2: 122,004,958 (GRCm39) |
|
probably null |
Het |
| Trim80 |
T |
G |
11: 115,338,768 (GRCm39) |
Y533D |
probably damaging |
Het |
| Unc13b |
T |
C |
4: 43,096,990 (GRCm39) |
I121T |
possibly damaging |
Het |
| Usp40 |
T |
C |
1: 87,906,133 (GRCm39) |
T701A |
probably benign |
Het |
| Xpr1 |
A |
G |
1: 155,208,145 (GRCm39) |
|
probably benign |
Het |
| Ywhab |
T |
A |
2: 163,858,090 (GRCm39) |
I219N |
probably damaging |
Het |
| Zfp219 |
G |
T |
14: 52,246,485 (GRCm39) |
T169K |
probably damaging |
Het |
|
| Other mutations in Rubcnl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02571:Rubcnl
|
APN |
14 |
75,269,576 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL02730:Rubcnl
|
APN |
14 |
75,287,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0147:Rubcnl
|
UTSW |
14 |
75,279,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0148:Rubcnl
|
UTSW |
14 |
75,279,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0350:Rubcnl
|
UTSW |
14 |
75,278,331 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0487:Rubcnl
|
UTSW |
14 |
75,273,521 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0558:Rubcnl
|
UTSW |
14 |
75,284,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1537:Rubcnl
|
UTSW |
14 |
75,278,267 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1791:Rubcnl
|
UTSW |
14 |
75,284,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1871:Rubcnl
|
UTSW |
14 |
75,279,849 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R2227:Rubcnl
|
UTSW |
14 |
75,279,832 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2263:Rubcnl
|
UTSW |
14 |
75,278,260 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2910:Rubcnl
|
UTSW |
14 |
75,278,248 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2911:Rubcnl
|
UTSW |
14 |
75,278,248 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3826:Rubcnl
|
UTSW |
14 |
75,269,665 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R3870:Rubcnl
|
UTSW |
14 |
75,278,356 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3871:Rubcnl
|
UTSW |
14 |
75,278,356 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4007:Rubcnl
|
UTSW |
14 |
75,287,143 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4161:Rubcnl
|
UTSW |
14 |
75,281,898 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5004:Rubcnl
|
UTSW |
14 |
75,269,617 (GRCm39) |
nonsense |
probably null |
|
|
R5041:Rubcnl
|
UTSW |
14 |
75,287,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5468:Rubcnl
|
UTSW |
14 |
75,269,471 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5495:Rubcnl
|
UTSW |
14 |
75,279,777 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5739:Rubcnl
|
UTSW |
14 |
75,278,381 (GRCm39) |
splice site |
probably null |
|
|
R5910:Rubcnl
|
UTSW |
14 |
75,272,912 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5948:Rubcnl
|
UTSW |
14 |
75,285,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6038:Rubcnl
|
UTSW |
14 |
75,269,410 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6038:Rubcnl
|
UTSW |
14 |
75,269,410 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6197:Rubcnl
|
UTSW |
14 |
75,269,369 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6297:Rubcnl
|
UTSW |
14 |
75,287,584 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6372:Rubcnl
|
UTSW |
14 |
75,285,009 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6376:Rubcnl
|
UTSW |
14 |
75,269,834 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6377:Rubcnl
|
UTSW |
14 |
75,287,635 (GRCm39) |
splice site |
probably null |
|
|
R6724:Rubcnl
|
UTSW |
14 |
75,289,450 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6884:Rubcnl
|
UTSW |
14 |
75,272,910 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7183:Rubcnl
|
UTSW |
14 |
75,287,066 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7186:Rubcnl
|
UTSW |
14 |
75,269,453 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7345:Rubcnl
|
UTSW |
14 |
75,279,793 (GRCm39) |
missense |
probably benign |
|
|
R7423:Rubcnl
|
UTSW |
14 |
75,287,083 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7548:Rubcnl
|
UTSW |
14 |
75,279,792 (GRCm39) |
missense |
probably benign |
|
|
R7606:Rubcnl
|
UTSW |
14 |
75,276,314 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7699:Rubcnl
|
UTSW |
14 |
75,269,404 (GRCm39) |
missense |
probably benign |
|
|
R7781:Rubcnl
|
UTSW |
14 |
75,269,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8406:Rubcnl
|
UTSW |
14 |
75,289,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8832:Rubcnl
|
UTSW |
14 |
75,269,359 (GRCm39) |
missense |
|
|
|
R9053:Rubcnl
|
UTSW |
14 |
75,269,717 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9763:Rubcnl
|
UTSW |
14 |
75,287,108 (GRCm39) |
nonsense |
probably null |
|
|
RF011:Rubcnl
|
UTSW |
14 |
75,281,878 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Rubcnl
|
UTSW |
14 |
75,273,637 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Posted On |
2012-12-21 |
Incidental Mutation