Incidental Mutation 'R6511:Exoc3l'
ID |
519916 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Exoc3l
|
Ensembl Gene |
ENSMUSG00000043251 |
Gene Name |
exocyst complex component 3-like |
Synonyms |
C730015A04Rik |
MMRRC Submission |
044639-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.248)
|
Stock # |
R6511 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
106016556-106022733 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 106019887 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 346
(T346K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000053766
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014981]
[ENSMUST00000015003]
[ENSMUST00000057855]
[ENSMUST00000171788]
[ENSMUST00000212777]
[ENSMUST00000212922]
[ENSMUST00000212219]
|
AlphaFold |
Q8BI71 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000014981
|
SMART Domains |
Protein: ENSMUSP00000014981 Gene: ENSMUSG00000014837
Domain | Start | End | E-Value | Type |
DUF1704
|
148 |
457 |
1.07e-139 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000015003
|
SMART Domains |
Protein: ENSMUSP00000015003 Gene: ENSMUSG00000014859
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
15 |
N/A |
INTRINSIC |
E2F_TDP
|
17 |
83 |
3.56e-31 |
SMART |
Pfam:E2F_CC-MB
|
100 |
196 |
2.8e-36 |
PFAM |
low complexity region
|
201 |
252 |
N/A |
INTRINSIC |
low complexity region
|
360 |
372 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000057855
AA Change: T346K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000053766 Gene: ENSMUSG00000043251 AA Change: T346K
Domain | Start | End | E-Value | Type |
Pfam:Sec6
|
189 |
722 |
5.4e-116 |
PFAM |
low complexity region
|
723 |
739 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000171788
|
SMART Domains |
Protein: ENSMUSP00000128530 Gene: ENSMUSG00000014837
Domain | Start | End | E-Value | Type |
DUF1704
|
148 |
457 |
1.07e-139 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212037
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212138
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212215
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212974
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212777
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212232
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212359
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212261
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212922
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212288
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212219
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212529
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.5%
|
Validation Efficiency |
100% (39/39) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc5 |
G |
A |
16: 20,195,344 (GRCm39) |
H718Y |
probably damaging |
Het |
Abcc8 |
G |
A |
7: 45,800,285 (GRCm39) |
T499I |
possibly damaging |
Het |
Azin2 |
C |
A |
4: 128,828,259 (GRCm39) |
R316L |
probably damaging |
Het |
Cep85l |
C |
T |
10: 53,154,188 (GRCm39) |
V702I |
probably benign |
Het |
Cfap69 |
A |
T |
5: 5,667,220 (GRCm39) |
C442S |
probably damaging |
Het |
Commd3 |
G |
A |
2: 18,679,650 (GRCm39) |
G148R |
probably benign |
Het |
Cyfip2 |
T |
C |
11: 46,087,135 (GRCm39) |
T1252A |
probably benign |
Het |
Cyp4a30b |
A |
T |
4: 115,313,905 (GRCm39) |
D162V |
probably damaging |
Het |
Gas8 |
T |
C |
8: 124,250,896 (GRCm39) |
V123A |
probably benign |
Het |
Hmcn2 |
T |
G |
2: 31,246,354 (GRCm39) |
D774E |
possibly damaging |
Het |
Itga1 |
G |
T |
13: 115,129,037 (GRCm39) |
S540R |
probably damaging |
Het |
Itpr2 |
T |
C |
6: 146,231,225 (GRCm39) |
N1145S |
probably damaging |
Het |
Kcnc2 |
C |
T |
10: 112,297,972 (GRCm39) |
|
probably benign |
Het |
Lrp5 |
G |
A |
19: 3,702,296 (GRCm39) |
R174W |
probably damaging |
Het |
Lrrn4 |
T |
G |
2: 132,712,246 (GRCm39) |
S526R |
probably benign |
Het |
Map3k6 |
G |
A |
4: 132,975,389 (GRCm39) |
R708H |
probably damaging |
Het |
Mefv |
T |
C |
16: 3,533,810 (GRCm39) |
T154A |
probably benign |
Het |
Mrtfb |
T |
A |
16: 13,197,714 (GRCm39) |
S66R |
probably damaging |
Het |
Mtif2 |
G |
T |
11: 29,486,949 (GRCm39) |
A320S |
possibly damaging |
Het |
Nos2 |
A |
G |
11: 78,846,290 (GRCm39) |
|
probably null |
Het |
Or4k15b |
A |
G |
14: 50,272,266 (GRCm39) |
L198P |
probably damaging |
Het |
Or9g4 |
A |
G |
2: 85,505,184 (GRCm39) |
S104P |
possibly damaging |
Het |
Pip5k1c |
T |
C |
10: 81,146,651 (GRCm39) |
Y44H |
probably damaging |
Het |
Ppp1r13b |
T |
C |
12: 111,798,001 (GRCm39) |
E972G |
probably damaging |
Het |
Prdm12 |
T |
C |
2: 31,530,321 (GRCm39) |
S71P |
probably damaging |
Het |
Prkag2 |
G |
T |
5: 25,305,286 (GRCm39) |
|
probably benign |
Het |
Ptprb |
T |
C |
10: 116,182,725 (GRCm39) |
L1467P |
probably damaging |
Het |
Rnf43 |
G |
A |
11: 87,622,989 (GRCm39) |
V697I |
probably benign |
Het |
Rpl7 |
C |
A |
1: 16,173,889 (GRCm39) |
A12S |
probably benign |
Het |
Slc25a54 |
T |
G |
3: 109,001,572 (GRCm39) |
I120S |
possibly damaging |
Het |
Slc41a2 |
T |
C |
10: 83,119,652 (GRCm39) |
H370R |
probably damaging |
Het |
Speer1d |
A |
G |
5: 11,307,275 (GRCm39) |
Y51C |
probably benign |
Het |
Sv2c |
C |
T |
13: 96,185,033 (GRCm39) |
V215I |
probably benign |
Het |
Synpo2l |
T |
C |
14: 20,712,518 (GRCm39) |
E34G |
probably damaging |
Het |
Tubgcp5 |
T |
A |
7: 55,467,140 (GRCm39) |
C703* |
probably null |
Het |
Vmn1r158 |
T |
C |
7: 22,490,116 (GRCm39) |
K31R |
probably benign |
Het |
Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
Zfp2 |
A |
T |
11: 50,791,234 (GRCm39) |
C270S |
probably damaging |
Het |
|
Other mutations in Exoc3l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00949:Exoc3l
|
APN |
8 |
106,017,130 (GRCm39) |
missense |
probably benign |
0.25 |
IGL01731:Exoc3l
|
APN |
8 |
106,019,587 (GRCm39) |
missense |
probably benign |
0.16 |
IGL02364:Exoc3l
|
APN |
8 |
106,017,209 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL02413:Exoc3l
|
APN |
8 |
106,019,070 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02512:Exoc3l
|
APN |
8 |
106,017,115 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02810:Exoc3l
|
APN |
8 |
106,021,980 (GRCm39) |
missense |
probably damaging |
1.00 |
R0045:Exoc3l
|
UTSW |
8 |
106,020,317 (GRCm39) |
missense |
probably damaging |
1.00 |
R0045:Exoc3l
|
UTSW |
8 |
106,020,317 (GRCm39) |
missense |
probably damaging |
1.00 |
R0183:Exoc3l
|
UTSW |
8 |
106,021,932 (GRCm39) |
missense |
probably damaging |
1.00 |
R0302:Exoc3l
|
UTSW |
8 |
106,020,175 (GRCm39) |
missense |
probably benign |
0.01 |
R1660:Exoc3l
|
UTSW |
8 |
106,019,692 (GRCm39) |
critical splice donor site |
probably null |
|
R1699:Exoc3l
|
UTSW |
8 |
106,021,645 (GRCm39) |
missense |
probably benign |
0.34 |
R1826:Exoc3l
|
UTSW |
8 |
106,020,250 (GRCm39) |
missense |
probably damaging |
0.97 |
R2275:Exoc3l
|
UTSW |
8 |
106,017,079 (GRCm39) |
critical splice donor site |
probably null |
|
R3928:Exoc3l
|
UTSW |
8 |
106,017,549 (GRCm39) |
unclassified |
probably benign |
|
R3938:Exoc3l
|
UTSW |
8 |
106,020,037 (GRCm39) |
missense |
probably damaging |
1.00 |
R4261:Exoc3l
|
UTSW |
8 |
106,017,599 (GRCm39) |
missense |
probably damaging |
0.98 |
R4273:Exoc3l
|
UTSW |
8 |
106,016,593 (GRCm39) |
makesense |
probably null |
|
R5518:Exoc3l
|
UTSW |
8 |
106,019,795 (GRCm39) |
missense |
probably benign |
0.27 |
R6471:Exoc3l
|
UTSW |
8 |
106,017,166 (GRCm39) |
missense |
probably damaging |
1.00 |
R6631:Exoc3l
|
UTSW |
8 |
106,021,993 (GRCm39) |
missense |
probably damaging |
1.00 |
R6694:Exoc3l
|
UTSW |
8 |
106,017,122 (GRCm39) |
missense |
probably benign |
0.15 |
R6843:Exoc3l
|
UTSW |
8 |
106,016,729 (GRCm39) |
missense |
probably benign |
0.00 |
R7310:Exoc3l
|
UTSW |
8 |
106,020,340 (GRCm39) |
missense |
probably damaging |
1.00 |
R7387:Exoc3l
|
UTSW |
8 |
106,021,605 (GRCm39) |
missense |
probably damaging |
1.00 |
R7442:Exoc3l
|
UTSW |
8 |
106,019,558 (GRCm39) |
missense |
probably damaging |
1.00 |
R7764:Exoc3l
|
UTSW |
8 |
106,017,333 (GRCm39) |
missense |
possibly damaging |
0.62 |
R7845:Exoc3l
|
UTSW |
8 |
106,016,782 (GRCm39) |
missense |
probably damaging |
1.00 |
R8748:Exoc3l
|
UTSW |
8 |
106,016,777 (GRCm39) |
missense |
probably damaging |
0.98 |
R8879:Exoc3l
|
UTSW |
8 |
106,017,181 (GRCm39) |
missense |
|
|
Z1176:Exoc3l
|
UTSW |
8 |
106,017,426 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
Predicted Primers |
PCR Primer
(F):5'- CTAGTCACCTGAACCTGAGC -3'
(R):5'- AGACTGAGCGCACAATCCTG -3'
Sequencing Primer
(F):5'- TGAACCTGAGCCACAAAGG -3'
(R):5'- ATGTCTTCGGGCGCTACAG -3'
|
Posted On |
2018-06-06 |