Incidental Mutation 'R6631:Exoc3l'
ID |
525132 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Exoc3l
|
Ensembl Gene |
ENSMUSG00000043251 |
Gene Name |
exocyst complex component 3-like |
Synonyms |
C730015A04Rik |
MMRRC Submission |
044753-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.248)
|
Stock # |
R6631 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
106016556-106022733 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 106021993 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 37
(W37R)
|
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: W37R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000053766 Gene: ENSMUSG00000043251 AA Change: W37R
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 |
probably benign
Transcript: ENSMUST00000212777
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212261
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212974
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212359
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212288
|
Meta Mutation Damage Score |
0.3227 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
Validation Efficiency |
96% (50/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931406C07Rik |
A |
T |
9: 15,203,326 (GRCm39) |
N159K |
probably damaging |
Het |
Arhgef10l |
T |
C |
4: 140,245,058 (GRCm39) |
|
probably benign |
Het |
Atosa |
A |
G |
9: 74,861,107 (GRCm39) |
D4G |
possibly damaging |
Het |
Avil |
A |
G |
10: 126,843,618 (GRCm39) |
S153G |
possibly damaging |
Het |
C2cd3 |
G |
A |
7: 100,067,747 (GRCm39) |
D877N |
probably damaging |
Het |
Clca3a2 |
G |
A |
3: 144,519,405 (GRCm39) |
A257V |
probably benign |
Het |
Cramp1 |
T |
A |
17: 25,202,931 (GRCm39) |
H366L |
probably benign |
Het |
Cyp2c37 |
C |
T |
19: 39,998,287 (GRCm39) |
S393L |
probably damaging |
Het |
Defb8 |
T |
A |
8: 19,495,950 (GRCm39) |
I37L |
probably benign |
Het |
Dennd4b |
C |
A |
3: 90,185,039 (GRCm39) |
|
probably null |
Het |
Eps8l2 |
G |
A |
7: 140,936,115 (GRCm39) |
R223H |
probably damaging |
Het |
Erbin |
A |
G |
13: 103,961,400 (GRCm39) |
L1302P |
probably benign |
Het |
Fap |
T |
C |
2: 62,333,725 (GRCm39) |
N668S |
probably damaging |
Het |
Gas7 |
A |
G |
11: 67,565,107 (GRCm39) |
N250S |
probably damaging |
Het |
H2bc12 |
T |
A |
13: 22,220,391 (GRCm39) |
V112E |
probably damaging |
Het |
Hivep1 |
C |
A |
13: 42,309,956 (GRCm39) |
P732Q |
probably damaging |
Het |
Irx4 |
G |
T |
13: 73,416,545 (GRCm39) |
A314S |
probably benign |
Het |
Itgb8 |
A |
T |
12: 119,144,712 (GRCm39) |
L332* |
probably null |
Het |
Kctd19 |
A |
G |
8: 106,111,960 (GRCm39) |
|
probably null |
Het |
Kif14 |
G |
A |
1: 136,443,697 (GRCm39) |
S1290N |
probably benign |
Het |
Klk1b3 |
C |
T |
7: 43,850,888 (GRCm39) |
T140I |
probably benign |
Het |
Lama1 |
A |
G |
17: 68,081,477 (GRCm39) |
N1305D |
probably benign |
Het |
Lrp1 |
A |
T |
10: 127,410,201 (GRCm39) |
V1515E |
probably damaging |
Het |
Man2b1 |
A |
G |
8: 85,813,440 (GRCm39) |
|
probably null |
Het |
Mocos |
A |
G |
18: 24,832,988 (GRCm39) |
T818A |
probably benign |
Het |
Mpc2 |
G |
T |
1: 165,307,081 (GRCm39) |
W94L |
probably benign |
Het |
Mrc1 |
G |
A |
2: 14,243,296 (GRCm39) |
V141I |
probably benign |
Het |
Nalcn |
T |
C |
14: 123,697,663 (GRCm39) |
T538A |
probably benign |
Het |
Ndufs3 |
G |
A |
2: 90,732,744 (GRCm39) |
T114M |
probably damaging |
Het |
Noct |
T |
C |
3: 51,157,621 (GRCm39) |
C320R |
probably damaging |
Het |
Or5b117 |
T |
A |
19: 13,431,185 (GRCm39) |
Q232L |
probably benign |
Het |
Pcdha11 |
G |
T |
18: 37,138,844 (GRCm39) |
A158S |
probably damaging |
Het |
Pcdhga8 |
T |
A |
18: 37,860,109 (GRCm39) |
D388E |
probably benign |
Het |
Peg3 |
T |
C |
7: 6,712,069 (GRCm39) |
E1051G |
possibly damaging |
Het |
Phlda2 |
T |
A |
7: 143,055,918 (GRCm39) |
I104F |
probably damaging |
Het |
Polr2a |
A |
G |
11: 69,626,339 (GRCm39) |
S1604P |
possibly damaging |
Het |
Pomt2 |
C |
T |
12: 87,186,417 (GRCm39) |
|
probably null |
Het |
Ppp6r2 |
G |
A |
15: 89,137,458 (GRCm39) |
|
probably null |
Het |
Prdm2 |
T |
G |
4: 142,861,454 (GRCm39) |
Q612P |
probably benign |
Het |
Prr5 |
C |
A |
15: 84,586,978 (GRCm39) |
R243S |
probably damaging |
Het |
Ptgdr2 |
T |
C |
19: 10,918,233 (GRCm39) |
I250T |
probably benign |
Het |
Rad54l2 |
A |
T |
9: 106,590,739 (GRCm39) |
C462* |
probably null |
Het |
Sec16a |
T |
A |
2: 26,329,969 (GRCm39) |
E682V |
probably damaging |
Het |
Serpina3i |
A |
G |
12: 104,232,725 (GRCm39) |
D210G |
probably damaging |
Het |
Slain2 |
T |
A |
5: 73,114,748 (GRCm39) |
D326E |
probably benign |
Het |
Sned1 |
A |
G |
1: 93,209,374 (GRCm39) |
E829G |
probably damaging |
Het |
Steap4 |
G |
A |
5: 8,026,995 (GRCm39) |
W319* |
probably null |
Het |
Taar8c |
A |
G |
10: 23,977,701 (GRCm39) |
V37A |
probably benign |
Het |
Tdrd12 |
T |
A |
7: 35,184,654 (GRCm39) |
Y753F |
probably damaging |
Het |
Tnxb |
A |
G |
17: 34,937,222 (GRCm39) |
S3770G |
probably damaging |
Het |
Trrap |
A |
G |
5: 144,708,460 (GRCm39) |
N48S |
possibly damaging |
Het |
Zfp558 |
C |
A |
9: 18,368,219 (GRCm39) |
G190* |
probably null |
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 |
R6511:Exoc3l
|
UTSW |
8 |
106,019,887 (GRCm39) |
missense |
probably benign |
0.00 |
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'- TTCACGAGTTCCCTGCACAG -3'
(R):5'- CTATAGGATTGCCAAGAGTGGG -3'
Sequencing Primer
(F):5'- TAGGACTGCACCACTGACTGTG -3'
(R):5'- GGCTGTCCCGAGGAAACAG -3'
|
Posted On |
2018-06-22 |