Incidental Mutation 'R5382:Exoc6'
| ID |
424821 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Exoc6
|
| Ensembl Gene |
ENSMUSG00000053799 |
| Gene Name |
exocyst complex component 6 |
| Synonyms |
msec15, 4833405E05Rik, hbd, Sec15l1, Sec15 |
| MMRRC Submission |
042957-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5382 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
37525181-37672499 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 37587127 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064332
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066439]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000066439
|
| SMART Domains |
Protein: ENSMUSP00000064332
Gene: ENSMUSG00000053799
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
265 |
273 |
N/A |
INTRINSIC |
|
Pfam:Sec15
|
456 |
762 |
8.1e-109 |
PFAM |
|
| Meta Mutation Damage Score |
0.9498 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (59/59) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is highly similar to the Saccharomyces cerevisiae SEC15 gene product, which is essential for vesicular traffic from the Golgi apparatus to the cell surface in yeast. It is one of the components of a multiprotein complex required for exocytosis. The 5' portion of this gene and two neighboring cytochrome p450 genes are included in a deletion that results in an autosomal-dominant form of nonsyndromic optic nerve aplasia (ONA). Alternative splicing and the use of alternative promoters results in multiple transcript variants. A paralogous gene encoding a similar protein is present on chromosome 2. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygotes for a spontaneous mutation exhibit severe microcytic anemia, erythrocyte hyperchromia, and markedly increased levels of red cell protoporphyrin. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp7 |
G |
A |
7: 28,314,844 (GRCm39) |
P250S |
possibly damaging |
Het |
| Actn2 |
T |
A |
13: 12,323,837 (GRCm39) |
M133L |
probably benign |
Het |
| Arhgap32 |
A |
T |
9: 32,063,306 (GRCm39) |
K105M |
probably damaging |
Het |
| BC034090 |
A |
G |
1: 155,101,349 (GRCm39) |
V305A |
probably benign |
Het |
| Brd1 |
G |
A |
15: 88,613,767 (GRCm39) |
T376M |
probably damaging |
Het |
| Cbl |
C |
T |
9: 44,070,318 (GRCm39) |
A505T |
probably benign |
Het |
| Cga |
G |
T |
4: 34,904,048 (GRCm39) |
M14I |
probably benign |
Het |
| Ciao3 |
A |
G |
17: 25,995,894 (GRCm39) |
|
probably benign |
Het |
| Cluh |
T |
C |
11: 74,555,935 (GRCm39) |
|
probably benign |
Het |
| Col14a1 |
A |
T |
15: 55,225,832 (GRCm39) |
D165V |
unknown |
Het |
| Cp |
T |
C |
3: 20,033,089 (GRCm39) |
W639R |
probably damaging |
Het |
| Cyp7b1 |
T |
A |
3: 18,151,385 (GRCm39) |
D276V |
possibly damaging |
Het |
| Dctd |
C |
T |
8: 48,590,449 (GRCm39) |
|
probably benign |
Het |
| Ecpas |
A |
T |
4: 58,850,934 (GRCm39) |
M413K |
probably benign |
Het |
| Erc1 |
T |
A |
6: 119,738,233 (GRCm39) |
M509L |
probably benign |
Het |
| Evi5l |
A |
G |
8: 4,228,653 (GRCm39) |
|
probably benign |
Het |
| Gm38706 |
C |
T |
6: 130,460,744 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr183 |
T |
C |
14: 122,192,333 (GRCm39) |
T63A |
possibly damaging |
Het |
| Gpr63 |
T |
A |
4: 25,007,952 (GRCm39) |
D225E |
probably benign |
Het |
| Grb14 |
T |
A |
2: 64,745,078 (GRCm39) |
K93N |
probably damaging |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Kif28 |
C |
T |
1: 179,527,847 (GRCm39) |
G768D |
probably damaging |
Het |
| Krt79 |
A |
T |
15: 101,839,875 (GRCm39) |
D373E |
probably benign |
Het |
| Mro |
G |
A |
18: 74,009,893 (GRCm39) |
S187N |
probably benign |
Het |
| Ms4a14 |
G |
T |
19: 11,280,421 (GRCm39) |
D712E |
possibly damaging |
Het |
| Ndufaf1 |
T |
C |
2: 119,490,893 (GRCm39) |
T56A |
possibly damaging |
Het |
| Nell2 |
A |
T |
15: 95,127,091 (GRCm39) |
D761E |
probably damaging |
Het |
| Numb |
A |
G |
12: 83,854,979 (GRCm39) |
F116L |
probably damaging |
Het |
| Or3a1 |
T |
A |
11: 74,225,806 (GRCm39) |
M84L |
probably benign |
Het |
| Or4c114 |
A |
G |
2: 88,905,079 (GRCm39) |
Y119H |
probably damaging |
Het |
| Or5an11 |
A |
T |
19: 12,245,773 (GRCm39) |
M60L |
possibly damaging |
Het |
| Or6c66 |
T |
A |
10: 129,461,876 (GRCm39) |
D18V |
probably damaging |
Het |
| Or8k27 |
A |
G |
2: 86,275,660 (GRCm39) |
L222P |
probably damaging |
Het |
| Or9g20 |
T |
C |
2: 85,630,492 (GRCm39) |
N41D |
probably damaging |
Het |
| Otog |
A |
C |
7: 45,898,428 (GRCm39) |
N182T |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Padi6 |
A |
T |
4: 140,458,521 (GRCm39) |
V457E |
probably damaging |
Het |
| Pex16 |
G |
A |
2: 92,207,875 (GRCm39) |
R109H |
possibly damaging |
Het |
| Phactr1 |
T |
C |
13: 43,288,695 (GRCm39) |
|
probably benign |
Het |
| Phf20 |
G |
A |
2: 156,109,417 (GRCm39) |
E255K |
probably damaging |
Het |
| Pim1 |
A |
G |
17: 29,710,457 (GRCm39) |
|
probably benign |
Het |
| Prr23a2 |
T |
A |
9: 98,739,229 (GRCm39) |
Y196N |
probably damaging |
Het |
| Prune2 |
A |
T |
19: 16,981,023 (GRCm39) |
N60I |
probably damaging |
Het |
| Ptprb |
T |
A |
10: 116,189,776 (GRCm39) |
Y1812N |
probably damaging |
Het |
| Rab11fip4 |
A |
G |
11: 79,581,541 (GRCm39) |
Y512C |
possibly damaging |
Het |
| Resf1 |
G |
T |
6: 149,227,958 (GRCm39) |
E335* |
probably null |
Het |
| Rft1 |
T |
C |
14: 30,388,739 (GRCm39) |
V221A |
probably benign |
Het |
| Tacr2 |
T |
C |
10: 62,097,276 (GRCm39) |
M252T |
probably damaging |
Het |
| Tgfbrap1 |
A |
G |
1: 43,115,025 (GRCm39) |
I25T |
probably benign |
Het |
| Th |
A |
G |
7: 142,449,177 (GRCm39) |
F191S |
probably damaging |
Het |
| Trim3 |
C |
A |
7: 105,267,554 (GRCm39) |
R275L |
probably benign |
Het |
| Trpm3 |
A |
G |
19: 22,862,705 (GRCm39) |
|
probably null |
Het |
| Wars1 |
A |
T |
12: 108,848,706 (GRCm39) |
D80E |
probably benign |
Het |
| Wdr90 |
T |
A |
17: 26,064,572 (GRCm39) |
Y1806F |
probably damaging |
Het |
| Zfp644 |
A |
T |
5: 106,782,735 (GRCm39) |
I1182N |
possibly damaging |
Het |
|
| Other mutations in Exoc6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01432:Exoc6
|
APN |
19 |
37,578,324 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL01716:Exoc6
|
APN |
19 |
37,671,412 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02363:Exoc6
|
APN |
19 |
37,597,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02383:Exoc6
|
APN |
19 |
37,566,922 (GRCm39) |
missense |
probably benign |
|
|
IGL03394:Exoc6
|
APN |
19 |
37,588,020 (GRCm39) |
missense |
probably benign |
0.15 |
|
australamerican
|
UTSW |
19 |
37,587,127 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03046:Exoc6
|
UTSW |
19 |
37,582,217 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1156:Exoc6
|
UTSW |
19 |
37,671,345 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1489:Exoc6
|
UTSW |
19 |
37,585,568 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1747:Exoc6
|
UTSW |
19 |
37,628,217 (GRCm39) |
splice site |
probably null |
|
|
R2125:Exoc6
|
UTSW |
19 |
37,579,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2863:Exoc6
|
UTSW |
19 |
37,641,861 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4090:Exoc6
|
UTSW |
19 |
37,560,360 (GRCm39) |
missense |
probably benign |
|
|
R4666:Exoc6
|
UTSW |
19 |
37,558,953 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4674:Exoc6
|
UTSW |
19 |
37,597,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5471:Exoc6
|
UTSW |
19 |
37,588,065 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5533:Exoc6
|
UTSW |
19 |
37,582,218 (GRCm39) |
splice site |
probably null |
|
|
R5607:Exoc6
|
UTSW |
19 |
37,566,977 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5641:Exoc6
|
UTSW |
19 |
37,576,081 (GRCm39) |
splice site |
probably null |
|
|
R5759:Exoc6
|
UTSW |
19 |
37,562,189 (GRCm39) |
nonsense |
probably null |
|
|
R5889:Exoc6
|
UTSW |
19 |
37,570,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6592:Exoc6
|
UTSW |
19 |
37,560,360 (GRCm39) |
missense |
probably benign |
|
|
R6936:Exoc6
|
UTSW |
19 |
37,560,311 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6988:Exoc6
|
UTSW |
19 |
37,597,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7088:Exoc6
|
UTSW |
19 |
37,565,458 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7162:Exoc6
|
UTSW |
19 |
37,565,566 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7948:Exoc6
|
UTSW |
19 |
37,565,422 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8266:Exoc6
|
UTSW |
19 |
37,565,497 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8525:Exoc6
|
UTSW |
19 |
37,597,440 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8917:Exoc6
|
UTSW |
19 |
37,578,360 (GRCm39) |
missense |
probably benign |
0.35 |
|
R9003:Exoc6
|
UTSW |
19 |
37,587,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9159:Exoc6
|
UTSW |
19 |
37,597,478 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9435:Exoc6
|
UTSW |
19 |
37,585,545 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9459:Exoc6
|
UTSW |
19 |
37,574,341 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9527:Exoc6
|
UTSW |
19 |
37,558,987 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9563:Exoc6
|
UTSW |
19 |
37,588,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9730:Exoc6
|
UTSW |
19 |
37,588,032 (GRCm39) |
missense |
probably benign |
0.02 |
|
RF009:Exoc6
|
UTSW |
19 |
37,560,068 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTAGCTTAATGAGTCACTGCC -3'
(R):5'- TGCAAAGCTAGCTCTACAGGATAATAC -3'
Sequencing Primer
(F):5'- GTCACTGCCATTTATAAAGAata -3'
(R):5'- GCAAGACATGTGTAGTGTGCC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation