Incidental Mutation 'R2409:Sec14l4'
| ID |
248138 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sec14l4
|
| Ensembl Gene |
ENSMUSG00000019368 |
| Gene Name |
SEC14-like lipid binding 4 |
| Synonyms |
|
| MMRRC Submission |
040375-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2409 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
3981462-3998024 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 3990048 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 116
(S116P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019512
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019512]
|
| AlphaFold |
Q8R0F9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019512
AA Change: S116P
PolyPhen 2
Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000019512
Gene: ENSMUSG00000019368
AA Change: S116P
| Domain | Start | End | E-Value | Type |
|---|
|
CRAL_TRIO_N
|
34 |
59 |
1.89e-6 |
SMART |
|
SEC14
|
76 |
246 |
7.7e-57 |
SMART |
|
Blast:SEC14
|
257 |
338 |
2e-36 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125351
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126423
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129689
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131171
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134482
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136222
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137324
|
| Meta Mutation Damage Score |
0.1913 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 94.0%
|
| Validation Efficiency |
100% (32/32) |
| 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
C |
T |
5: 8,788,747 (GRCm39) |
T1042I |
probably benign |
Het |
| Adamts13 |
A |
G |
2: 26,868,374 (GRCm39) |
T162A |
probably benign |
Het |
| Adamts7 |
T |
A |
9: 90,062,740 (GRCm39) |
I398N |
probably damaging |
Het |
| Cib2 |
A |
G |
9: 54,452,751 (GRCm39) |
|
probably null |
Het |
| Cyp3a16 |
T |
C |
5: 145,377,177 (GRCm39) |
K470R |
probably benign |
Het |
| Dpy19l2 |
A |
G |
9: 24,569,924 (GRCm39) |
M343T |
probably benign |
Het |
| Dyrk2 |
A |
G |
10: 118,696,532 (GRCm39) |
V242A |
probably benign |
Het |
| Extl3 |
T |
C |
14: 65,315,017 (GRCm39) |
D55G |
probably benign |
Het |
| Fabp7 |
A |
G |
10: 57,661,772 (GRCm39) |
K82E |
possibly damaging |
Het |
| Fat1 |
G |
T |
8: 45,493,567 (GRCm39) |
|
probably benign |
Het |
| Gen1 |
A |
G |
12: 11,299,165 (GRCm39) |
I280T |
possibly damaging |
Het |
| Gm5117 |
T |
C |
8: 32,227,306 (GRCm39) |
|
noncoding transcript |
Het |
| Gucy1b2 |
CCGTGTTT |
C |
14: 62,643,628 (GRCm39) |
|
probably null |
Het |
| Il3ra |
G |
A |
14: 14,349,377 (GRCm38) |
|
probably null |
Het |
| Myo1f |
A |
G |
17: 33,795,641 (GRCm39) |
N66D |
probably damaging |
Het |
| Nfkb1 |
C |
T |
3: 135,319,704 (GRCm39) |
E264K |
possibly damaging |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Or7d10 |
G |
T |
9: 19,832,072 (GRCm39) |
R189L |
probably benign |
Het |
| Or7d10 |
G |
C |
9: 19,832,077 (GRCm39) |
D191H |
probably damaging |
Het |
| Prdm10 |
A |
G |
9: 31,260,418 (GRCm39) |
H624R |
possibly damaging |
Het |
| Rgs5 |
G |
T |
1: 169,504,451 (GRCm39) |
V34F |
possibly damaging |
Het |
| Septin1 |
T |
C |
7: 126,815,143 (GRCm39) |
|
probably null |
Het |
| Septin9 |
T |
A |
11: 117,251,287 (GRCm39) |
I535N |
probably damaging |
Het |
| Sh2b1 |
C |
T |
7: 126,070,651 (GRCm39) |
G350D |
probably damaging |
Het |
| Slc6a21 |
T |
C |
7: 44,929,750 (GRCm39) |
V107A |
probably benign |
Het |
| Trim26 |
C |
A |
17: 37,161,895 (GRCm39) |
H105N |
probably damaging |
Het |
| Trim71 |
A |
T |
9: 114,342,781 (GRCm39) |
D500E |
possibly damaging |
Het |
| Vmn2r78 |
T |
A |
7: 86,569,953 (GRCm39) |
|
probably benign |
Het |
| Vmn2r84 |
A |
G |
10: 130,227,940 (GRCm39) |
S99P |
probably damaging |
Het |
|
| Other mutations in Sec14l4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02581:Sec14l4
|
APN |
11 |
3,989,941 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R0308:Sec14l4
|
UTSW |
11 |
3,991,726 (GRCm39) |
splice site |
probably benign |
|
|
R0538:Sec14l4
|
UTSW |
11 |
3,990,018 (GRCm39) |
missense |
probably benign |
|
|
R2327:Sec14l4
|
UTSW |
11 |
3,990,041 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2473:Sec14l4
|
UTSW |
11 |
3,993,359 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4581:Sec14l4
|
UTSW |
11 |
3,993,375 (GRCm39) |
splice site |
probably null |
|
|
R4684:Sec14l4
|
UTSW |
11 |
3,985,200 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5530:Sec14l4
|
UTSW |
11 |
3,996,342 (GRCm39) |
makesense |
probably null |
|
|
R5977:Sec14l4
|
UTSW |
11 |
3,990,055 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6057:Sec14l4
|
UTSW |
11 |
3,985,142 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7664:Sec14l4
|
UTSW |
11 |
3,994,178 (GRCm39) |
nonsense |
probably null |
|
|
R8465:Sec14l4
|
UTSW |
11 |
3,993,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9228:Sec14l4
|
UTSW |
11 |
3,989,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9753:Sec14l4
|
UTSW |
11 |
3,989,982 (GRCm39) |
missense |
probably benign |
0.13 |
|
X0026:Sec14l4
|
UTSW |
11 |
3,990,100 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATCAGCAGAACCTGGACCAG -3'
(R):5'- AGAGACAAGGTGCTGATCTTTG -3'
Sequencing Primer
(F):5'- AGGTGAGCCCCTTGCAGTATC -3'
(R):5'- GTGGTACCTAGTATCCCATTTGG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation