Incidental Mutation 'R4007:Rubcnl'
| ID |
311542 |
| 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 |
041610-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
R4007 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
75253467-75289972 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 75287143 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 604
(V604L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045566
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036072]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000036072
AA Change: V604L
PolyPhen 2
Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000045566
Gene: ENSMUSG00000034959
AA Change: V604L
| Domain | Start | End | E-Value | Type |
|---|
|
DUF4206
|
463 |
664 |
1.01e-108 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228689
|
| Meta Mutation Damage Score |
0.4658 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
| Validation Efficiency |
98% (49/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
T |
C |
19: 31,895,524 (GRCm39) |
|
probably null |
Het |
| Aff1 |
A |
T |
5: 103,932,088 (GRCm39) |
K243N |
probably benign |
Het |
| Aknad1 |
T |
C |
3: 108,682,598 (GRCm39) |
I558T |
probably benign |
Het |
| Ampd1 |
A |
G |
3: 102,999,776 (GRCm39) |
I460V |
probably damaging |
Het |
| Atp10b |
A |
T |
11: 43,150,679 (GRCm39) |
H1459L |
probably benign |
Het |
| Card9 |
T |
A |
2: 26,243,012 (GRCm39) |
R459W |
possibly damaging |
Het |
| Chd3 |
A |
T |
11: 69,239,827 (GRCm39) |
I1667N |
probably benign |
Het |
| Col6a3 |
A |
G |
1: 90,730,291 (GRCm39) |
S1672P |
probably damaging |
Het |
| Cul4a |
A |
G |
8: 13,172,859 (GRCm39) |
N164S |
probably benign |
Het |
| Dhx37 |
G |
A |
5: 125,501,995 (GRCm39) |
|
probably benign |
Het |
| Dnah1 |
T |
C |
14: 31,025,741 (GRCm39) |
|
probably benign |
Het |
| Elp1 |
G |
A |
4: 56,794,139 (GRCm39) |
T168I |
probably damaging |
Het |
| Erbb4 |
C |
A |
1: 68,779,560 (GRCm39) |
R72L |
probably damaging |
Het |
| F11r |
A |
G |
1: 171,288,916 (GRCm39) |
K178R |
probably benign |
Het |
| Fan1 |
A |
G |
7: 64,016,309 (GRCm39) |
L605P |
probably damaging |
Het |
| Fcna |
A |
G |
2: 25,516,018 (GRCm39) |
|
probably null |
Het |
| Filip1 |
A |
G |
9: 79,726,009 (GRCm39) |
I870T |
possibly damaging |
Het |
| Gm11595 |
C |
T |
11: 99,662,861 (GRCm39) |
C273Y |
unknown |
Het |
| Gml |
T |
A |
15: 74,685,548 (GRCm39) |
I146L |
possibly damaging |
Het |
| Gprc5b |
G |
A |
7: 118,583,437 (GRCm39) |
A144V |
possibly damaging |
Het |
| Htr2a |
A |
T |
14: 74,879,581 (GRCm39) |
H70L |
probably benign |
Het |
| Ifitm6 |
T |
A |
7: 140,596,627 (GRCm39) |
I69F |
possibly damaging |
Het |
| Iqsec3 |
A |
G |
6: 121,353,187 (GRCm39) |
S1144P |
probably damaging |
Het |
| Kazn |
T |
C |
4: 141,834,203 (GRCm39) |
T618A |
unknown |
Het |
| Mrps5 |
C |
A |
2: 127,433,755 (GRCm39) |
T48K |
possibly damaging |
Het |
| Mst1 |
A |
G |
9: 107,960,147 (GRCm39) |
E377G |
possibly damaging |
Het |
| Nup188 |
G |
A |
2: 30,199,890 (GRCm39) |
D305N |
probably damaging |
Het |
| Opn4 |
A |
T |
14: 34,321,789 (GRCm39) |
S43T |
probably benign |
Het |
| Or8k35 |
T |
C |
2: 86,424,908 (GRCm39) |
D88G |
probably benign |
Het |
| Plcb2 |
T |
C |
2: 118,541,274 (GRCm39) |
E1021G |
probably damaging |
Het |
| Pramex1 |
A |
T |
X: 134,514,374 (GRCm39) |
L305Q |
probably damaging |
Het |
| Rbsn |
T |
A |
6: 92,166,800 (GRCm39) |
T615S |
probably benign |
Het |
| Reg1 |
A |
G |
6: 78,404,013 (GRCm39) |
D60G |
probably null |
Het |
| Ros1 |
A |
T |
10: 51,994,328 (GRCm39) |
D1317E |
probably damaging |
Het |
| Rpap2 |
A |
G |
5: 107,751,738 (GRCm39) |
I129V |
probably damaging |
Het |
| Slc26a4 |
T |
A |
12: 31,590,532 (GRCm39) |
K374* |
probably null |
Het |
| Slc4a4 |
T |
A |
5: 89,362,452 (GRCm39) |
S854R |
probably damaging |
Het |
| Sv2c |
A |
G |
13: 96,123,341 (GRCm39) |
|
probably benign |
Het |
| Syce1 |
C |
A |
7: 140,359,809 (GRCm39) |
L83F |
probably damaging |
Het |
| Tnik |
A |
G |
3: 28,658,430 (GRCm39) |
S572G |
probably damaging |
Het |
| Trbv13-3 |
T |
C |
6: 41,107,120 (GRCm39) |
C14R |
probably benign |
Het |
| Ttc7 |
G |
A |
17: 87,597,679 (GRCm39) |
D84N |
possibly damaging |
Het |
| Ubtd1 |
G |
T |
19: 42,020,555 (GRCm39) |
G100* |
probably null |
Het |
| Vmn2r18 |
A |
T |
5: 151,508,711 (GRCm39) |
W138R |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,462,201 (GRCm39) |
T993A |
unknown |
Het |
| Zfp385b |
C |
T |
2: 77,549,836 (GRCm39) |
G83D |
probably benign |
Het |
| Zfp493 |
A |
G |
13: 67,932,038 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGGAAGCATATATGACCTCAG -3'
(R):5'- GGGTATGGGCTTTCAAACCAAG -3'
Sequencing Primer
(F):5'- GGAACTGTCTCCTCTCTGGCAG -3'
(R):5'- AGCTACAGGGTTCCACTTGAGTC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation