Incidental Mutation 'R5041:Rubcnl'
ID |
393229 |
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 |
042631-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.114)
|
Stock # |
R5041 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
75253467-75289972 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 75287572 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 619
(F619L)
|
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: F619L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000045566 Gene: ENSMUSG00000034959 AA Change: F619L
Domain | Start | End | E-Value | Type |
DUF4206
|
463 |
664 |
1.01e-108 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228689
|
Meta Mutation Damage Score |
0.2373 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.5%
|
Validation Efficiency |
98% (42/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg7 |
A |
G |
16: 56,550,711 (GRCm39) |
F667S |
probably benign |
Het |
Akna |
A |
G |
4: 63,305,381 (GRCm39) |
Y462H |
possibly damaging |
Het |
Anxa11 |
G |
T |
14: 25,875,188 (GRCm39) |
E278* |
probably null |
Het |
Ap3s2 |
T |
C |
7: 79,570,267 (GRCm39) |
Y20C |
probably benign |
Het |
Atxn7 |
T |
C |
14: 14,096,317 (GRCm38) |
|
probably null |
Het |
AW551984 |
T |
C |
9: 39,511,894 (GRCm39) |
Y39C |
probably damaging |
Het |
Becn1 |
A |
T |
11: 101,179,662 (GRCm39) |
S442T |
probably benign |
Het |
Bhlhe40 |
C |
T |
6: 108,639,546 (GRCm39) |
T108I |
probably damaging |
Het |
Cnst |
A |
G |
1: 179,432,593 (GRCm39) |
D252G |
probably damaging |
Het |
Cpxm1 |
A |
G |
2: 130,235,990 (GRCm39) |
S391P |
probably damaging |
Het |
Ctnna2 |
T |
A |
6: 76,892,746 (GRCm39) |
N814Y |
probably damaging |
Het |
Ddx3y |
T |
A |
Y: 1,266,611 (GRCm39) |
Y282F |
probably benign |
Het |
Ddx56 |
A |
G |
11: 6,214,178 (GRCm39) |
V357A |
probably damaging |
Het |
Frmpd1 |
T |
G |
4: 45,278,878 (GRCm39) |
C534W |
probably damaging |
Het |
Gimap8 |
A |
G |
6: 48,636,097 (GRCm39) |
N621D |
probably damaging |
Het |
Herc1 |
T |
A |
9: 66,336,327 (GRCm39) |
I1624N |
possibly damaging |
Het |
Htr7 |
A |
C |
19: 36,034,467 (GRCm39) |
W63G |
probably benign |
Het |
Ly6g6c |
T |
A |
17: 35,284,428 (GRCm39) |
|
probably null |
Het |
Macf1 |
T |
C |
4: 123,290,839 (GRCm39) |
|
probably null |
Het |
Mfrp |
A |
G |
9: 44,013,575 (GRCm39) |
D62G |
probably damaging |
Het |
Ncam1 |
T |
C |
9: 49,478,085 (GRCm39) |
Y173C |
probably damaging |
Het |
Nwd1 |
T |
C |
8: 73,431,683 (GRCm39) |
V1185A |
possibly damaging |
Het |
Or4c113 |
A |
T |
2: 88,885,265 (GRCm39) |
C168* |
probably null |
Het |
Or51h7 |
T |
C |
7: 102,591,785 (GRCm39) |
|
probably null |
Het |
Pcf11 |
G |
A |
7: 92,307,613 (GRCm39) |
P852S |
probably benign |
Het |
Pramel25 |
T |
C |
4: 143,520,260 (GRCm39) |
V4A |
probably benign |
Het |
Ralgapa2 |
T |
C |
2: 146,327,071 (GRCm39) |
I63V |
probably benign |
Het |
Rsf1 |
GCGGCGGCG |
GCGGCGGCGTCGGCGGCG |
7: 97,229,132 (GRCm39) |
|
probably benign |
Het |
Sec24d |
A |
T |
3: 123,087,880 (GRCm39) |
Q247L |
probably damaging |
Het |
Spmap2l |
A |
G |
5: 77,203,928 (GRCm39) |
T319A |
probably benign |
Het |
Spns3 |
G |
T |
11: 72,427,373 (GRCm39) |
Q306K |
possibly damaging |
Het |
Sstr1 |
T |
C |
12: 58,259,941 (GRCm39) |
V188A |
possibly damaging |
Het |
Supt5 |
A |
T |
7: 28,014,805 (GRCm39) |
L1024Q |
probably damaging |
Het |
Tent4b |
CCCAACAACGCCAACAA |
CCCAACAA |
8: 88,981,878 (GRCm39) |
|
probably benign |
Het |
Unc13b |
T |
A |
4: 43,237,836 (GRCm39) |
H3452Q |
probably benign |
Het |
Usp28 |
A |
G |
9: 48,949,073 (GRCm39) |
Q864R |
probably benign |
Het |
Vmn2r43 |
T |
C |
7: 8,247,806 (GRCm39) |
T786A |
probably damaging |
Het |
Yy1 |
TCACCACCACCACCACCACCACCACCACC |
TCACCACCACCACCACCACCACCACCACCACC |
12: 108,759,557 (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 |
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 |
|
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'- GTTTGAAAGCCCATACCCTGTAAAG -3'
(R):5'- CTGAGGTATTCTTCAGTTTAAGCTAGC -3'
Sequencing Primer
(F):5'- GTAAAGCCCATTCTGTCCTGAAG -3'
(R):5'- AGTTTAAGCTAGCATTATGATGAAGC -3'
|
Posted On |
2016-06-15 |