Incidental Mutation 'R5948:Rubcnl'
| ID |
472293 |
| 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 |
043244-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
R5948 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
75253467-75289972 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 75285056 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 525
(L525P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045566
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036072]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036072
AA Change: L525P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045566
Gene: ENSMUSG00000034959
AA Change: L525P
| Domain | Start | End | E-Value | Type |
|---|
|
DUF4206
|
463 |
664 |
1.01e-108 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228689
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adad1 |
T |
C |
3: 37,137,504 (GRCm39) |
|
probably null |
Het |
| Adam8 |
G |
T |
7: 139,567,797 (GRCm39) |
D341E |
probably benign |
Het |
| Ankrd6 |
T |
C |
4: 32,817,075 (GRCm39) |
T351A |
possibly damaging |
Het |
| Ccdc150 |
T |
C |
1: 54,316,873 (GRCm39) |
S251P |
possibly damaging |
Het |
| Cfh |
T |
C |
1: 140,036,546 (GRCm39) |
N629S |
probably damaging |
Het |
| Col4a2 |
T |
C |
8: 11,470,600 (GRCm39) |
S453P |
probably benign |
Het |
| Csf2 |
T |
C |
11: 54,138,514 (GRCm39) |
D109G |
probably benign |
Het |
| Dapk1 |
C |
A |
13: 60,877,209 (GRCm39) |
H483N |
probably damaging |
Het |
| Dnah7c |
T |
G |
1: 46,711,657 (GRCm39) |
I2628R |
probably benign |
Het |
| Dsp |
T |
C |
13: 38,379,377 (GRCm39) |
Y2041H |
possibly damaging |
Het |
| Dusp10 |
A |
G |
1: 183,801,073 (GRCm39) |
N280S |
probably benign |
Het |
| Efhc1 |
T |
A |
1: 21,043,052 (GRCm39) |
Y324N |
probably damaging |
Het |
| Epsti1 |
T |
C |
14: 78,177,330 (GRCm39) |
L170P |
probably damaging |
Het |
| Fbn2 |
C |
T |
18: 58,170,121 (GRCm39) |
G2217R |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,254,715 (GRCm39) |
|
probably null |
Het |
| Mrpl39 |
T |
C |
16: 84,522,041 (GRCm39) |
N244D |
probably benign |
Het |
| Nptxr |
C |
T |
15: 79,674,042 (GRCm39) |
A445T |
probably benign |
Het |
| Or1j15 |
A |
G |
2: 36,459,363 (GRCm39) |
Y251C |
probably damaging |
Het |
| Otud3 |
A |
G |
4: 138,624,925 (GRCm39) |
Y259H |
probably benign |
Het |
| Parvb |
G |
A |
15: 84,187,662 (GRCm39) |
V257M |
probably damaging |
Het |
| Piezo1 |
T |
C |
8: 123,210,086 (GRCm39) |
E2258G |
probably benign |
Het |
| Prpf8 |
A |
G |
11: 75,400,015 (GRCm39) |
E2303G |
possibly damaging |
Het |
| Psmc6 |
A |
G |
14: 45,572,114 (GRCm39) |
D88G |
probably benign |
Het |
| Rbbp6 |
C |
T |
7: 122,596,851 (GRCm39) |
T701I |
probably damaging |
Het |
| Rtl1 |
T |
A |
12: 109,557,033 (GRCm39) |
D1602V |
possibly damaging |
Het |
| Sbf2 |
T |
C |
7: 110,088,492 (GRCm39) |
D73G |
probably damaging |
Het |
| Sh3tc2 |
T |
A |
18: 62,146,176 (GRCm39) |
M1185K |
probably damaging |
Het |
| Shank2 |
A |
G |
7: 143,960,960 (GRCm39) |
K469E |
probably damaging |
Het |
| Ttc41 |
T |
C |
10: 86,549,088 (GRCm39) |
L94P |
probably damaging |
Het |
| Ttf1 |
G |
A |
2: 28,963,932 (GRCm39) |
A603T |
possibly damaging |
Het |
| Usp9y |
A |
T |
Y: 1,324,996 (GRCm39) |
H1686Q |
possibly damaging |
Het |
| Vps37a |
A |
G |
8: 40,993,752 (GRCm39) |
E249G |
possibly damaging |
Het |
| Zfp273 |
A |
G |
13: 67,973,918 (GRCm39) |
I316V |
probably benign |
Het |
| Zfp600 |
T |
A |
4: 146,131,645 (GRCm39) |
N104K |
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 |
|
R0019:Rubcnl
|
UTSW |
14 |
75,285,703 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATATGGTGTTACCCTCCTGCC -3'
(R):5'- GGATCATTCACCCCTCAGTC -3'
Sequencing Primer
(F):5'- ACTGTGAGTATCTCGGGAAGTAC -3'
(R):5'- TCAGTCTATCTGCCTTGTGAAG -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation