Incidental Mutation 'R1425:Sec14l3'
| ID |
161261 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sec14l3
|
| Ensembl Gene |
ENSMUSG00000054986 |
| Gene Name |
SEC14-like lipid binding 3 |
| Synonyms |
1110069O07Rik |
| MMRRC Submission |
039481-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R1425 (G1)
|
| Quality Score |
146 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
4014841-4027736 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 4016487 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 53
(E53G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065084
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068322]
|
| AlphaFold |
Q5SQ27 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068322
AA Change: E53G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065084
Gene: ENSMUSG00000054986
AA Change: E53G
| Domain | Start | End | E-Value | Type |
|---|
|
CRAL_TRIO_N
|
34 |
59 |
2.71e-7 |
SMART |
|
SEC14
|
76 |
247 |
1.18e-66 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123208
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125898
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126396
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129330
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.4%
- 20x: 89.9%
|
| Validation Efficiency |
|
| 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 protein encoded by the Saccharomyces cerevisiae SEC14 gene. The SEC14 protein is a phophatidylinositol transfer protein that is essential for biogenesis of Golgi-derived transport vesicles, and thus is required for the export of yeast secretory proteins from the Golgi complex. The specific function of this protein has not yet been determined. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 9 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp6ap1l |
T |
C |
13: 91,047,638 (GRCm39) |
N58S |
possibly damaging |
Het |
| Gdpd4 |
A |
T |
7: 97,623,219 (GRCm39) |
T277S |
probably benign |
Het |
| Itgb2 |
G |
A |
10: 77,383,130 (GRCm39) |
G167S |
probably null |
Het |
| Kcnt2 |
A |
G |
1: 140,310,766 (GRCm39) |
T191A |
probably damaging |
Het |
| Or52b1 |
A |
T |
7: 104,978,922 (GRCm39) |
F159Y |
probably damaging |
Het |
| Ppm1k |
C |
T |
6: 57,501,774 (GRCm39) |
G130R |
probably damaging |
Het |
| Rfc1 |
A |
C |
5: 65,476,861 (GRCm39) |
F6V |
probably damaging |
Het |
| Tas2r115 |
T |
G |
6: 132,714,442 (GRCm39) |
S170R |
probably benign |
Het |
| Zfp738 |
T |
C |
13: 67,818,894 (GRCm39) |
T366A |
possibly damaging |
Het |
|
| Other mutations in Sec14l3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01150:Sec14l3
|
APN |
11 |
4,026,238 (GRCm39) |
splice site |
probably benign |
|
|
IGL01382:Sec14l3
|
APN |
11 |
4,018,104 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02304:Sec14l3
|
APN |
11 |
4,024,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02565:Sec14l3
|
APN |
11 |
4,026,237 (GRCm39) |
splice site |
probably benign |
|
|
IGL02836:Sec14l3
|
APN |
11 |
4,020,084 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0183:Sec14l3
|
UTSW |
11 |
4,025,547 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0597:Sec14l3
|
UTSW |
11 |
4,024,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1834:Sec14l3
|
UTSW |
11 |
4,016,510 (GRCm39) |
splice site |
probably benign |
|
|
R2090:Sec14l3
|
UTSW |
11 |
4,025,481 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3839:Sec14l3
|
UTSW |
11 |
4,021,544 (GRCm39) |
splice site |
probably null |
|
|
R4424:Sec14l3
|
UTSW |
11 |
4,016,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4948:Sec14l3
|
UTSW |
11 |
4,018,101 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5124:Sec14l3
|
UTSW |
11 |
4,025,209 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5588:Sec14l3
|
UTSW |
11 |
4,016,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5635:Sec14l3
|
UTSW |
11 |
4,021,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6185:Sec14l3
|
UTSW |
11 |
4,025,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6192:Sec14l3
|
UTSW |
11 |
4,025,566 (GRCm39) |
splice site |
probably null |
|
|
R6699:Sec14l3
|
UTSW |
11 |
4,025,193 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7002:Sec14l3
|
UTSW |
11 |
4,025,263 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7351:Sec14l3
|
UTSW |
11 |
4,024,785 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7357:Sec14l3
|
UTSW |
11 |
4,020,127 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7845:Sec14l3
|
UTSW |
11 |
4,017,972 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7890:Sec14l3
|
UTSW |
11 |
4,024,795 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8108:Sec14l3
|
UTSW |
11 |
4,016,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9110:Sec14l3
|
UTSW |
11 |
4,015,007 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9468:Sec14l3
|
UTSW |
11 |
4,025,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9569:Sec14l3
|
UTSW |
11 |
4,026,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9671:Sec14l3
|
UTSW |
11 |
4,025,486 (GRCm39) |
missense |
probably damaging |
0.98 |
|
RF011:Sec14l3
|
UTSW |
11 |
4,017,963 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCTCAGAATCTGACTGCAACAGC -3'
(R):5'- AGTGACCAGCAACTTCTTGGGTG -3'
Sequencing Primer
(F):5'- CTTAAGTTTCACAAGTCTAAGGAAGG -3'
(R):5'- CCAGCAACTTCTTGGGTGATATG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation