Incidental Mutation 'R8748:Exoc3l'
| ID |
663653 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Exoc3l
|
| Ensembl Gene |
ENSMUSG00000043251 |
| Gene Name |
exocyst complex component 3-like |
| Synonyms |
C730015A04Rik |
| MMRRC Submission |
068591-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.248)
|
| Stock # |
R8748 (G1)
|
| Quality Score |
187.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
106016556-106022733 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106016777 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 679
(D679G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053766
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014981]
[ENSMUST00000057855]
[ENSMUST00000171788]
[ENSMUST00000212219]
[ENSMUST00000212777]
[ENSMUST00000212922]
|
| 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 damaging
Transcript: ENSMUST00000057855
AA Change: D679G
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000053766
Gene: ENSMUSG00000043251
AA Change: D679G
| 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 |
probably benign
Transcript: ENSMUST00000212219
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212777
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212922
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 97.9%
|
| Validation Efficiency |
96% (43/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
A |
T |
11: 109,836,597 (GRCm39) |
F1233I |
probably damaging |
Het |
| Acte1 |
T |
C |
7: 143,445,556 (GRCm39) |
I201T |
probably benign |
Het |
| Adgrl2 |
A |
G |
3: 148,532,026 (GRCm39) |
I87T |
|
Het |
| Atr |
A |
G |
9: 95,814,476 (GRCm39) |
M2058V |
probably benign |
Het |
| Bach1 |
G |
A |
16: 87,516,179 (GRCm39) |
R240Q |
probably benign |
Het |
| Bscl2 |
A |
G |
19: 8,825,311 (GRCm39) |
E365G |
probably damaging |
Het |
| Casd1 |
T |
A |
6: 4,608,634 (GRCm39) |
S77R |
probably benign |
Het |
| Ccdc91 |
T |
C |
6: 147,464,194 (GRCm39) |
I214T |
unknown |
Het |
| Chpf2 |
T |
C |
5: 24,796,821 (GRCm39) |
F589S |
probably damaging |
Het |
| Cmya5 |
T |
A |
13: 93,226,229 (GRCm39) |
Y2953F |
probably damaging |
Het |
| Cts8 |
A |
T |
13: 61,397,086 (GRCm39) |
V278D |
probably damaging |
Het |
| Cyp20a1 |
T |
C |
1: 60,392,181 (GRCm39) |
V79A |
probably damaging |
Het |
| Dach1 |
G |
A |
14: 98,065,770 (GRCm39) |
Q686* |
probably null |
Het |
| Daxx |
A |
G |
17: 34,131,138 (GRCm39) |
D355G |
probably damaging |
Het |
| Dmrt3 |
G |
A |
19: 25,588,550 (GRCm39) |
A130T |
probably benign |
Het |
| Eif4ebp2 |
A |
T |
10: 61,270,806 (GRCm39) |
H74Q |
probably benign |
Het |
| Fam13c |
T |
A |
10: 70,378,516 (GRCm39) |
W349R |
probably damaging |
Het |
| Fat3 |
A |
T |
9: 15,834,161 (GRCm39) |
Y4144N |
possibly damaging |
Het |
| Gm37240 |
A |
G |
3: 84,405,045 (GRCm39) |
*253Q |
probably null |
Het |
| Hycc1 |
T |
A |
5: 24,170,320 (GRCm39) |
D343V |
probably benign |
Het |
| Ildr1 |
A |
C |
16: 36,542,734 (GRCm39) |
E422A |
probably benign |
Het |
| Itsn2 |
A |
G |
12: 4,751,337 (GRCm39) |
E1309G |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,368,068 (GRCm39) |
D2231G |
probably benign |
Het |
| Mtnr1a |
T |
C |
8: 45,538,675 (GRCm39) |
S38P |
probably benign |
Het |
| Or10d3 |
C |
G |
9: 39,461,711 (GRCm39) |
G152A |
possibly damaging |
Het |
| Or10d3 |
C |
A |
9: 39,461,712 (GRCm39) |
G152* |
probably null |
Het |
| Or10v5 |
A |
G |
19: 11,805,596 (GRCm39) |
S265P |
probably damaging |
Het |
| Or11h6 |
G |
T |
14: 50,880,211 (GRCm39) |
V152F |
probably benign |
Het |
| Pate13 |
A |
C |
9: 35,820,351 (GRCm39) |
D25A |
probably damaging |
Het |
| Pcdhb9 |
G |
A |
18: 37,535,901 (GRCm39) |
G632S |
probably damaging |
Het |
| Pgr |
C |
A |
9: 8,958,449 (GRCm39) |
L819I |
probably benign |
Het |
| Phrf1 |
T |
C |
7: 140,838,148 (GRCm39) |
S448P |
unknown |
Het |
| Pip5k1a |
A |
G |
3: 94,971,695 (GRCm39) |
M471T |
probably benign |
Het |
| Postn |
A |
G |
3: 54,296,760 (GRCm39) |
D758G |
probably damaging |
Het |
| Rbmyf9 |
T |
A |
Y: 3,774,915 (GRCm39) |
|
probably null |
Het |
| Rpl3 |
T |
C |
15: 79,963,902 (GRCm39) |
I280V |
probably benign |
Het |
| Rtl1 |
A |
T |
12: 109,561,492 (GRCm39) |
S116T |
probably benign |
Het |
| Six5 |
A |
G |
7: 18,829,049 (GRCm39) |
H163R |
probably benign |
Het |
| Smarca4 |
A |
G |
9: 21,546,164 (GRCm39) |
D114G |
possibly damaging |
Het |
| Tex46 |
C |
T |
4: 136,337,808 (GRCm39) |
|
probably benign |
Het |
| Tmem144 |
A |
G |
3: 79,743,539 (GRCm39) |
|
probably null |
Het |
| Unc5d |
T |
C |
8: 29,186,453 (GRCm39) |
T617A |
probably benign |
Het |
| Vmn1r74 |
T |
A |
7: 11,580,903 (GRCm39) |
S68T |
probably benign |
Het |
| Zfp184 |
G |
A |
13: 22,144,217 (GRCm39) |
R641Q |
probably benign |
Het |
| Zfp583 |
C |
T |
7: 6,319,419 (GRCm39) |
R531H |
probably benign |
Het |
| Zfp764 |
T |
C |
7: 127,003,862 (GRCm39) |
E423G |
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 |
|
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 |
|
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 |
|
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'- CCAACACATAGATTCAGACGTG -3'
(R):5'- TGAGGGAACTGCTCAACCTC -3'
Sequencing Primer
(F):5'- CACATAGATTCAGACGTGTCGTAG -3'
(R):5'- GAACTGCTCAACCTCCACGAC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation