Incidental Mutation 'R2988:Exoc6b'
| ID |
257834 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Exoc6b
|
| Ensembl Gene |
ENSMUSG00000033769 |
| Gene Name |
exocyst complex component 6B |
| Synonyms |
Sec15b, Sec15l2, 4930569O18Rik, G430127E12Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.848)
|
| Stock # |
R2988 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
84595469-85046495 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 84828929 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Isoleucine
at position 485
(K485I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125312
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160197]
[ENSMUST00000162821]
|
| AlphaFold |
A6H5Z3 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000046334
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000051531
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160197
AA Change: K485I
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000125312
Gene: ENSMUSG00000033769
AA Change: K485I
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
79 |
118 |
N/A |
INTRINSIC |
|
low complexity region
|
272 |
282 |
N/A |
INTRINSIC |
|
Pfam:Sec15
|
464 |
770 |
4.5e-105 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162821
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which is a part of the evolutionarily conserved exocyst, a multimeric protein complex necessary for exocytosis, which in turn, is crucial for cell growth, polarity and migration. Disruption of this gene may be associated with phenotypes exhibiting multiple symptoms including intellectual disability and developmental delay (DD). [provided by RefSeq, Jun 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn1 |
C |
A |
12: 80,239,162 (GRCm39) |
A248S |
possibly damaging |
Het |
| Chd9 |
A |
G |
8: 91,757,088 (GRCm39) |
|
probably null |
Het |
| Cnot1 |
T |
C |
8: 96,470,906 (GRCm39) |
E1314G |
possibly damaging |
Het |
| Foxn1 |
C |
G |
11: 78,249,603 (GRCm39) |
G641R |
possibly damaging |
Het |
| Kcnh7 |
T |
A |
2: 62,552,172 (GRCm39) |
I940F |
probably benign |
Het |
| Lipk |
T |
C |
19: 33,999,137 (GRCm39) |
F139S |
probably damaging |
Het |
| Nr1h3 |
T |
C |
2: 91,015,349 (GRCm39) |
N285S |
probably damaging |
Het |
| Or1r1 |
C |
A |
11: 73,874,627 (GRCm39) |
R269L |
probably benign |
Het |
| Or5p60 |
G |
A |
7: 107,724,045 (GRCm39) |
Q142* |
probably null |
Het |
| Ptpro |
C |
T |
6: 137,420,597 (GRCm39) |
Q188* |
probably null |
Het |
| Skic3 |
T |
A |
13: 76,303,808 (GRCm39) |
M1242K |
probably benign |
Het |
| Slc22a8 |
A |
G |
19: 8,587,612 (GRCm39) |
T529A |
probably benign |
Het |
| Spef2 |
A |
T |
15: 9,682,709 (GRCm39) |
S591T |
probably benign |
Het |
| Tmem161b |
C |
T |
13: 84,440,574 (GRCm39) |
R149* |
probably null |
Het |
| Trp53 |
T |
C |
11: 69,479,332 (GRCm39) |
V170A |
probably damaging |
Het |
|
| Other mutations in Exoc6b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00519:Exoc6b
|
APN |
6 |
84,966,435 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01148:Exoc6b
|
APN |
6 |
84,885,208 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL01804:Exoc6b
|
APN |
6 |
84,885,148 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01817:Exoc6b
|
APN |
6 |
85,046,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01912:Exoc6b
|
APN |
6 |
84,602,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02441:Exoc6b
|
APN |
6 |
84,981,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02947:Exoc6b
|
APN |
6 |
84,835,411 (GRCm39) |
missense |
probably benign |
|
|
IGL02996:Exoc6b
|
APN |
6 |
84,885,195 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03132:Exoc6b
|
APN |
6 |
84,768,246 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL03338:Exoc6b
|
APN |
6 |
84,821,112 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0003:Exoc6b
|
UTSW |
6 |
84,831,681 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0732:Exoc6b
|
UTSW |
6 |
84,832,504 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1137:Exoc6b
|
UTSW |
6 |
84,885,205 (GRCm39) |
missense |
probably benign |
|
|
R1381:Exoc6b
|
UTSW |
6 |
84,812,099 (GRCm39) |
missense |
probably benign |
|
|
R1723:Exoc6b
|
UTSW |
6 |
85,046,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1838:Exoc6b
|
UTSW |
6 |
84,830,660 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1866:Exoc6b
|
UTSW |
6 |
84,828,896 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2122:Exoc6b
|
UTSW |
6 |
84,598,464 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2138:Exoc6b
|
UTSW |
6 |
84,966,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2357:Exoc6b
|
UTSW |
6 |
84,966,321 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R2987:Exoc6b
|
UTSW |
6 |
84,828,929 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3415:Exoc6b
|
UTSW |
6 |
84,867,547 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R3417:Exoc6b
|
UTSW |
6 |
84,867,547 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4364:Exoc6b
|
UTSW |
6 |
84,980,161 (GRCm39) |
intron |
probably benign |
|
|
R4610:Exoc6b
|
UTSW |
6 |
84,980,141 (GRCm39) |
intron |
probably benign |
|
|
R4624:Exoc6b
|
UTSW |
6 |
84,831,791 (GRCm39) |
splice site |
probably benign |
|
|
R4845:Exoc6b
|
UTSW |
6 |
84,812,119 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5366:Exoc6b
|
UTSW |
6 |
84,867,513 (GRCm39) |
missense |
probably benign |
|
|
R5603:Exoc6b
|
UTSW |
6 |
84,812,126 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5635:Exoc6b
|
UTSW |
6 |
84,828,909 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5728:Exoc6b
|
UTSW |
6 |
84,837,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6188:Exoc6b
|
UTSW |
6 |
84,832,479 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7030:Exoc6b
|
UTSW |
6 |
84,825,807 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7058:Exoc6b
|
UTSW |
6 |
84,831,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7259:Exoc6b
|
UTSW |
6 |
84,825,792 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7574:Exoc6b
|
UTSW |
6 |
84,768,366 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7607:Exoc6b
|
UTSW |
6 |
84,966,391 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7918:Exoc6b
|
UTSW |
6 |
85,046,332 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8146:Exoc6b
|
UTSW |
6 |
84,885,176 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8204:Exoc6b
|
UTSW |
6 |
84,832,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8356:Exoc6b
|
UTSW |
6 |
84,821,077 (GRCm39) |
frame shift |
probably null |
|
|
R8456:Exoc6b
|
UTSW |
6 |
84,821,077 (GRCm39) |
frame shift |
probably null |
|
|
R9099:Exoc6b
|
UTSW |
6 |
84,982,000 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9608:Exoc6b
|
UTSW |
6 |
84,602,106 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9620:Exoc6b
|
UTSW |
6 |
84,988,302 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTGAAAGCCTATTCCAAAGTTCC -3'
(R):5'- GTCAATACTTTACAGGGTAGGACAAAG -3'
Sequencing Primer
(F):5'- GTTCCAAACTCATAGCAAAGACTTTC -3'
(R):5'- AGAGAGGCCCTTTAGACTTGC -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation