Incidental Mutation 'R2910:Rubcnl'
ID |
261208 |
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 |
040497-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.114)
|
Stock # |
R2910 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
75253467-75289972 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 75278248 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 344
(T344I)
|
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
AA Change: T344I
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000045566 Gene: ENSMUSG00000034959 AA Change: T344I
Domain | Start | End | E-Value | Type |
DUF4206
|
463 |
664 |
1.01e-108 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228689
|
Meta Mutation Damage Score |
0.2333 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
Validation Efficiency |
96% (49/51) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf3 |
A |
G |
16: 20,378,982 (GRCm39) |
T645A |
probably damaging |
Het |
Acap1 |
A |
G |
11: 69,777,902 (GRCm39) |
|
probably benign |
Het |
Adgrv1 |
G |
A |
13: 81,705,238 (GRCm39) |
A1524V |
possibly damaging |
Het |
Agbl1 |
A |
G |
7: 76,069,586 (GRCm39) |
N121D |
probably benign |
Het |
Ahnak |
A |
G |
19: 8,989,018 (GRCm39) |
D3434G |
probably damaging |
Het |
Ankrd11 |
A |
T |
8: 123,635,537 (GRCm39) |
D32E |
probably damaging |
Het |
Asxl1 |
T |
C |
2: 153,242,959 (GRCm39) |
S1170P |
probably benign |
Het |
Atp8b3 |
G |
A |
10: 80,355,746 (GRCm39) |
S1322F |
possibly damaging |
Het |
Car15 |
G |
A |
16: 17,656,006 (GRCm39) |
|
probably benign |
Het |
Cep104 |
T |
A |
4: 154,079,884 (GRCm39) |
|
probably null |
Het |
Cnnm1 |
A |
G |
19: 43,458,086 (GRCm39) |
I633V |
possibly damaging |
Het |
Cog8 |
A |
T |
8: 107,780,853 (GRCm39) |
V135E |
probably benign |
Het |
Cts6 |
A |
G |
13: 61,344,215 (GRCm39) |
V279A |
probably damaging |
Het |
Ddx1 |
C |
T |
12: 13,281,441 (GRCm39) |
|
probably null |
Het |
Dock2 |
A |
G |
11: 34,182,910 (GRCm39) |
|
probably benign |
Het |
Ero1b |
T |
A |
13: 12,615,178 (GRCm39) |
D336E |
probably damaging |
Het |
F11 |
C |
G |
8: 45,694,486 (GRCm39) |
*625S |
probably null |
Het |
F5 |
A |
G |
1: 164,032,389 (GRCm39) |
M1779V |
probably benign |
Het |
Fam227a |
A |
T |
15: 79,520,935 (GRCm39) |
D296E |
possibly damaging |
Het |
Fbxo38 |
T |
C |
18: 62,652,878 (GRCm39) |
D523G |
probably benign |
Het |
Ggt1 |
G |
A |
10: 75,416,430 (GRCm39) |
V275M |
probably benign |
Het |
Gm379 |
A |
C |
X: 107,708,371 (GRCm39) |
F43V |
possibly damaging |
Het |
Grhl3 |
T |
C |
4: 135,286,457 (GRCm39) |
I75V |
probably benign |
Het |
Iqcm |
A |
T |
8: 76,441,404 (GRCm39) |
I226F |
probably benign |
Het |
Kcnq1 |
T |
G |
7: 142,979,699 (GRCm39) |
L615R |
probably damaging |
Het |
Lcp2 |
G |
A |
11: 34,018,970 (GRCm39) |
|
probably null |
Het |
Lypd8l |
G |
A |
11: 58,499,252 (GRCm39) |
Q189* |
probably null |
Het |
Mbtps1 |
A |
G |
8: 120,272,776 (GRCm39) |
I123T |
possibly damaging |
Het |
Muc5ac |
C |
T |
7: 141,361,378 (GRCm39) |
T1563I |
probably damaging |
Het |
Odf2l |
A |
C |
3: 144,830,084 (GRCm39) |
I19L |
probably benign |
Het |
Or5ak23 |
T |
A |
2: 85,244,695 (GRCm39) |
H176L |
probably damaging |
Het |
Or5h25 |
C |
T |
16: 58,930,544 (GRCm39) |
R143H |
probably benign |
Het |
Pigr |
A |
G |
1: 130,777,270 (GRCm39) |
D692G |
probably damaging |
Het |
Pkd1l3 |
A |
G |
8: 110,394,268 (GRCm39) |
|
probably benign |
Het |
Plekhg4 |
TAGTCGATGCCCGAGTC |
TAGTC |
8: 106,103,084 (GRCm39) |
|
probably benign |
Het |
Reep2 |
T |
C |
18: 34,978,743 (GRCm39) |
|
probably null |
Het |
Sema6d |
C |
A |
2: 124,506,957 (GRCm39) |
P941T |
probably damaging |
Het |
Shcbp1l |
C |
A |
1: 153,304,372 (GRCm39) |
L144I |
probably damaging |
Het |
Slc7a1 |
T |
C |
5: 148,289,067 (GRCm39) |
E60G |
probably benign |
Het |
Snx2 |
C |
T |
18: 53,332,946 (GRCm39) |
P207S |
probably damaging |
Het |
Spata31 |
T |
G |
13: 65,068,250 (GRCm39) |
S133A |
probably benign |
Het |
Tac1 |
A |
G |
6: 7,559,097 (GRCm39) |
|
probably null |
Het |
Tfpi |
A |
C |
2: 84,274,437 (GRCm39) |
V184G |
possibly damaging |
Het |
Tmeff1 |
C |
A |
4: 48,614,961 (GRCm39) |
N139K |
possibly damaging |
Het |
Tnxb |
A |
G |
17: 34,891,424 (GRCm39) |
D589G |
probably damaging |
Het |
Trpc1 |
C |
A |
9: 95,631,895 (GRCm39) |
A16S |
probably benign |
Het |
Vmn2r106 |
A |
C |
17: 20,498,946 (GRCm39) |
L322V |
probably damaging |
Het |
Vmn2r69 |
G |
T |
7: 85,055,918 (GRCm39) |
A740D |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GAAGGATTTGAACTCTGCTTTTCTG -3'
(R):5'- TCCATTTTGAGACTTCCTAAACACC -3'
Sequencing Primer
(F):5'- GCTTTTCTGACTTTAAATGCAGTAC -3'
(R):5'- GCCAGTGAGAAATCAAGAACATTTC -3'
|
Posted On |
2015-01-23 |