Incidental Mutation 'R0183:Exoc3l'
ID |
23894 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Exoc3l
|
Ensembl Gene |
ENSMUSG00000043251 |
Gene Name |
exocyst complex component 3-like |
Synonyms |
C730015A04Rik |
MMRRC Submission |
038448-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.248)
|
Stock # |
R0183 (G1)
|
Quality Score |
225 |
Status
|
Validated
(trace)
|
Chromosome |
8 |
Chromosomal Location |
106016556-106022733 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 106021932 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 57
(R57L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000053766
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015003]
[ENSMUST00000057855]
[ENSMUST00000212777]
|
AlphaFold |
Q8BI71 |
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 damaging
Transcript: ENSMUST00000057855
AA Change: R57L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000053766 Gene: ENSMUSG00000043251 AA Change: R57L
Domain | Start | End | E-Value | Type |
Pfam:Sec6
|
189 |
722 |
5.4e-116 |
PFAM |
low complexity region
|
723 |
739 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212037
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212138
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212215
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212232
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212288
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212261
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212777
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212974
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212359
|
Meta Mutation Damage Score |
0.3021 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.3%
|
Validation Efficiency |
84% (42/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
C |
T |
5: 77,034,082 (GRCm39) |
D490N |
probably benign |
Het |
Aatf |
A |
T |
11: 84,401,251 (GRCm39) |
|
probably null |
Het |
Amer3 |
T |
A |
1: 34,626,838 (GRCm39) |
I359K |
probably damaging |
Het |
Appl1 |
A |
T |
14: 26,684,811 (GRCm39) |
D79E |
probably damaging |
Het |
Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
Baz1a |
T |
A |
12: 54,958,172 (GRCm39) |
E1026D |
probably damaging |
Het |
Bcl2 |
G |
A |
1: 106,640,292 (GRCm39) |
R107C |
probably damaging |
Het |
Card14 |
C |
T |
11: 119,217,524 (GRCm39) |
R386C |
probably damaging |
Het |
Cenpb |
T |
C |
2: 131,020,373 (GRCm39) |
|
probably benign |
Het |
Clcn4 |
G |
A |
7: 7,298,090 (GRCm39) |
Q40* |
probably null |
Het |
Clec16a |
T |
C |
16: 10,377,886 (GRCm39) |
Y28H |
probably damaging |
Het |
Cul4a |
T |
C |
8: 13,183,790 (GRCm39) |
S393P |
probably damaging |
Het |
Dcbld2 |
A |
G |
16: 58,265,722 (GRCm39) |
D194G |
possibly damaging |
Het |
Dnah6 |
C |
T |
6: 73,059,906 (GRCm39) |
V2841I |
probably damaging |
Het |
Eaf1 |
T |
A |
14: 31,217,272 (GRCm39) |
L16Q |
probably damaging |
Het |
Eef1e1 |
C |
T |
13: 38,840,162 (GRCm39) |
A48T |
probably damaging |
Het |
Faf1 |
A |
G |
4: 109,792,807 (GRCm39) |
N593S |
probably benign |
Het |
Fosb |
A |
G |
7: 19,041,310 (GRCm39) |
I61T |
probably damaging |
Het |
Fstl5 |
A |
C |
3: 76,229,579 (GRCm39) |
I127L |
possibly damaging |
Het |
Gas2l2 |
T |
A |
11: 83,319,882 (GRCm39) |
M125L |
probably benign |
Het |
Gcnt1 |
C |
T |
19: 17,306,481 (GRCm39) |
D415N |
probably benign |
Het |
Gtpbp4 |
A |
G |
13: 9,024,997 (GRCm39) |
M531T |
probably benign |
Het |
Gucy1b2 |
T |
A |
14: 62,656,589 (GRCm39) |
K256M |
probably damaging |
Het |
Igf2bp2 |
A |
T |
16: 21,897,480 (GRCm39) |
Y244* |
probably null |
Het |
Jkamp |
T |
C |
12: 72,140,809 (GRCm39) |
I118T |
possibly damaging |
Het |
Kalrn |
A |
T |
16: 33,991,749 (GRCm39) |
|
probably null |
Het |
Kcnma1 |
A |
T |
14: 23,558,120 (GRCm39) |
D317E |
probably damaging |
Het |
Lipo2 |
A |
T |
19: 33,726,951 (GRCm39) |
|
probably null |
Het |
Lrig3 |
T |
A |
10: 125,846,061 (GRCm39) |
I830K |
probably damaging |
Het |
Map3k4 |
A |
G |
17: 12,454,015 (GRCm39) |
I1429T |
probably damaging |
Het |
Mkks |
G |
A |
2: 136,722,606 (GRCm39) |
L184F |
probably benign |
Het |
Mmp19 |
C |
T |
10: 128,634,872 (GRCm39) |
T424I |
possibly damaging |
Het |
Mrps23 |
A |
G |
11: 88,100,980 (GRCm39) |
E57G |
probably damaging |
Het |
Myh7 |
T |
C |
14: 55,216,333 (GRCm39) |
T1282A |
probably benign |
Het |
Or2y10 |
A |
G |
11: 49,455,675 (GRCm39) |
D309G |
probably benign |
Het |
Or8k1 |
T |
A |
2: 86,047,173 (GRCm39) |
S294C |
probably damaging |
Het |
Phf19 |
T |
C |
2: 34,801,214 (GRCm39) |
N75S |
probably damaging |
Het |
Pink1 |
T |
G |
4: 138,041,490 (GRCm39) |
H477P |
probably damaging |
Het |
Ppp6r2 |
G |
A |
15: 89,169,990 (GRCm39) |
C835Y |
probably damaging |
Het |
Prkcq |
T |
C |
2: 11,257,973 (GRCm39) |
I295T |
probably damaging |
Het |
Ptpn13 |
T |
C |
5: 103,664,274 (GRCm39) |
S421P |
probably benign |
Het |
Ptpn6 |
A |
G |
6: 124,705,914 (GRCm39) |
S77P |
probably damaging |
Het |
Ptpre |
G |
T |
7: 135,271,574 (GRCm39) |
M389I |
probably benign |
Het |
Ranbp9 |
T |
C |
13: 43,578,599 (GRCm39) |
D158G |
probably damaging |
Het |
Sec14l3 |
C |
T |
11: 4,025,547 (GRCm39) |
S357L |
probably benign |
Het |
Slc1a6 |
A |
G |
10: 78,627,067 (GRCm39) |
T135A |
probably damaging |
Het |
Spef2 |
A |
T |
15: 9,716,445 (GRCm39) |
D323E |
possibly damaging |
Het |
Taf2 |
T |
A |
15: 54,919,186 (GRCm39) |
K396N |
possibly damaging |
Het |
Tcf12 |
A |
T |
9: 71,824,309 (GRCm39) |
V94E |
probably damaging |
Het |
Trim24 |
T |
A |
6: 37,920,415 (GRCm39) |
I404N |
possibly 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 |
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 |
R6511:Exoc3l
|
UTSW |
8 |
106,019,887 (GRCm39) |
missense |
probably benign |
0.00 |
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'- AAGCTTCACGAGTTCCCTGCAC -3'
(R):5'- AGATACAGCCCACACTTCGTCCTG -3'
Sequencing Primer
(F):5'- GAGTTCCCTGCACAGCCTC -3'
(R):5'- ACACTTCGTCCTGGTATGAGC -3'
|
Posted On |
2013-04-16 |