Incidental Mutation 'R3938:Exoc3l'
| ID |
307280 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Exoc3l
|
| Ensembl Gene |
ENSMUSG00000043251 |
| Gene Name |
exocyst complex component 3-like |
| Synonyms |
C730015A04Rik |
| MMRRC Submission |
040825-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.248)
|
| Stock # |
R3938 (G1)
|
| Quality Score |
147 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
106016556-106022733 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 106020037 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Histidine
at position 296
(P296H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053766
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014981]
[ENSMUST00000015003]
[ENSMUST00000057855]
[ENSMUST00000171788]
[ENSMUST00000212219]
[ENSMUST00000212922]
[ENSMUST00000212777]
|
| 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 damaging
Transcript: ENSMUST00000057855
AA Change: P296H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000053766
Gene: ENSMUSG00000043251
AA Change: P296H
| 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 |
noncoding transcript
Transcript: ENSMUST00000212288
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212219
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212922
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212359
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212232
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212777
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212529
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212261
|
| Meta Mutation Damage Score |
0.5867 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
98% (57/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts1 |
C |
T |
16: 85,592,507 (GRCm39) |
V634M |
possibly damaging |
Het |
| Arid4b |
A |
T |
13: 14,361,513 (GRCm39) |
N659I |
probably benign |
Het |
| BC049715 |
T |
C |
6: 136,817,453 (GRCm39) |
I231T |
possibly damaging |
Het |
| Bmp4 |
T |
C |
14: 46,621,536 (GRCm39) |
Y336C |
probably damaging |
Het |
| Ccdc30 |
G |
A |
4: 119,209,870 (GRCm39) |
T293I |
probably benign |
Het |
| Chd5 |
A |
T |
4: 152,461,512 (GRCm39) |
T1275S |
probably benign |
Het |
| Chtf8 |
A |
T |
8: 107,612,537 (GRCm39) |
M134K |
probably benign |
Het |
| Col11a2 |
A |
T |
17: 34,258,599 (GRCm39) |
|
probably benign |
Het |
| Cyp8b1 |
A |
G |
9: 121,744,684 (GRCm39) |
V216A |
probably benign |
Het |
| Dnah8 |
C |
T |
17: 31,073,911 (GRCm39) |
T4527M |
probably damaging |
Het |
| Elavl3 |
A |
G |
9: 21,930,040 (GRCm39) |
V288A |
probably damaging |
Het |
| Erap1 |
T |
A |
13: 74,816,147 (GRCm39) |
L92Q |
probably damaging |
Het |
| Fcgbpl1 |
C |
T |
7: 27,853,719 (GRCm39) |
P1561L |
probably damaging |
Het |
| Foxl3 |
A |
T |
5: 138,806,723 (GRCm39) |
N78Y |
probably damaging |
Het |
| Hacl1 |
T |
C |
14: 31,356,148 (GRCm39) |
|
probably benign |
Het |
| Hrnr |
T |
A |
3: 93,230,162 (GRCm39) |
N133K |
probably benign |
Het |
| Itgax |
G |
T |
7: 127,735,445 (GRCm39) |
R504S |
possibly damaging |
Het |
| Itgb4 |
A |
G |
11: 115,896,752 (GRCm39) |
S1461G |
possibly damaging |
Het |
| Klkb1 |
G |
T |
8: 45,735,838 (GRCm39) |
T175K |
probably damaging |
Het |
| Lrrk2 |
A |
T |
15: 91,596,983 (GRCm39) |
D525V |
possibly damaging |
Het |
| Lrrk2 |
C |
A |
15: 91,662,707 (GRCm39) |
T1912K |
probably damaging |
Het |
| Mdga1 |
G |
T |
17: 30,076,596 (GRCm39) |
Q59K |
probably damaging |
Het |
| Mpp4 |
A |
G |
1: 59,163,842 (GRCm39) |
V466A |
possibly damaging |
Het |
| Myh6 |
T |
C |
14: 55,200,512 (GRCm39) |
D203G |
probably benign |
Het |
| Myo5b |
T |
C |
18: 74,849,108 (GRCm39) |
S1116P |
probably damaging |
Het |
| Nemp1 |
T |
C |
10: 127,531,342 (GRCm39) |
L311P |
probably damaging |
Het |
| Nup205 |
A |
G |
6: 35,196,677 (GRCm39) |
R1138G |
probably damaging |
Het |
| Nup54 |
A |
G |
5: 92,565,388 (GRCm39) |
M443T |
probably damaging |
Het |
| Peak1 |
T |
C |
9: 56,167,649 (GRCm39) |
E93G |
probably benign |
Het |
| Pirb |
A |
T |
7: 3,720,637 (GRCm39) |
L287Q |
probably benign |
Het |
| Plekhj1 |
A |
G |
10: 80,633,609 (GRCm39) |
I76T |
probably damaging |
Het |
| Poll |
A |
G |
19: 45,546,857 (GRCm39) |
|
probably benign |
Het |
| Ppp1r3a |
A |
T |
6: 14,719,073 (GRCm39) |
S614T |
probably damaging |
Het |
| Pygm |
A |
T |
19: 6,442,980 (GRCm39) |
I556F |
probably benign |
Het |
| Ranbp2 |
T |
C |
10: 58,312,294 (GRCm39) |
F1005L |
probably benign |
Het |
| Rcor3 |
G |
T |
1: 191,785,385 (GRCm39) |
T361K |
possibly damaging |
Het |
| Robo4 |
A |
G |
9: 37,313,313 (GRCm39) |
|
probably benign |
Het |
| Rps15 |
T |
C |
10: 80,129,673 (GRCm39) |
V96A |
probably benign |
Het |
| Rrm2 |
T |
A |
12: 24,759,431 (GRCm39) |
N55K |
probably damaging |
Het |
| Shank2 |
T |
C |
7: 143,682,112 (GRCm39) |
Y382H |
probably benign |
Het |
| Slc25a10 |
G |
T |
11: 120,382,819 (GRCm39) |
E3* |
probably null |
Het |
| Slc7a8 |
T |
A |
14: 54,973,298 (GRCm39) |
E223V |
probably benign |
Het |
| Snx13 |
A |
G |
12: 35,194,096 (GRCm39) |
K880E |
probably benign |
Het |
| Spinkl |
T |
G |
18: 44,301,216 (GRCm39) |
M41L |
probably benign |
Het |
| Srp54a |
A |
C |
12: 55,136,042 (GRCm39) |
N19T |
probably benign |
Het |
| Sun2 |
T |
C |
15: 79,618,356 (GRCm39) |
K268E |
probably benign |
Het |
| Sytl1 |
G |
A |
4: 132,982,935 (GRCm39) |
Q359* |
probably null |
Het |
| Tlr6 |
A |
T |
5: 65,110,938 (GRCm39) |
F656L |
probably damaging |
Het |
| Tmem185a |
C |
T |
X: 69,505,792 (GRCm39) |
|
probably null |
Het |
| Tmem45a2 |
C |
T |
16: 56,859,398 (GRCm39) |
D278N |
probably benign |
Het |
| Trav7-1 |
T |
C |
14: 52,892,791 (GRCm39) |
|
probably benign |
Het |
| Trpc2 |
T |
A |
7: 101,742,781 (GRCm39) |
M597K |
probably damaging |
Het |
| Ttc21a |
A |
G |
9: 119,779,882 (GRCm39) |
|
probably benign |
Het |
| Usp9y |
C |
T |
Y: 1,313,741 (GRCm39) |
M2188I |
probably damaging |
Het |
| Utrn |
C |
A |
10: 12,625,774 (GRCm39) |
|
probably null |
Het |
| Vmn1r35 |
T |
A |
6: 66,656,057 (GRCm39) |
R204S |
probably damaging |
Het |
| Zfp955b |
T |
A |
17: 33,524,390 (GRCm39) |
Y59F |
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 |
|
|
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'- CACACTGAGCCTCTAATCGTC -3'
(R):5'- TGGAGACTGAGCGCACAATC -3'
Sequencing Primer
(F):5'- GAGCCTCTAATCGTCCCACTTC -3'
(R):5'- ACTGAGCGCACAATCCTGGG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation