Incidental Mutation 'P0027:Sec14l2'
ID |
8044 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sec14l2
|
Ensembl Gene |
ENSMUSG00000003585 |
Gene Name |
SEC14-like lipid binding 2 |
Synonyms |
1300013M05Rik, Spf, tap |
MMRRC Submission |
038280-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.134)
|
Stock # |
P0027 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
4047039-4068729 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
C to T
at 4053673 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000003681
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003681]
[ENSMUST00000003681]
[ENSMUST00000003681]
|
AlphaFold |
Q99J08 |
Predicted Effect |
probably null
Transcript: ENSMUST00000003681
|
SMART Domains |
Protein: ENSMUSP00000003681 Gene: ENSMUSG00000003585
Domain | Start | End | E-Value | Type |
CRAL_TRIO_N
|
34 |
59 |
1.16e-6 |
SMART |
SEC14
|
76 |
246 |
8.31e-62 |
SMART |
Blast:SEC14
|
257 |
338 |
2e-42 |
BLAST |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000003681
|
SMART Domains |
Protein: ENSMUSP00000003681 Gene: ENSMUSG00000003585
Domain | Start | End | E-Value | Type |
CRAL_TRIO_N
|
34 |
59 |
1.16e-6 |
SMART |
SEC14
|
76 |
246 |
8.31e-62 |
SMART |
Blast:SEC14
|
257 |
338 |
2e-42 |
BLAST |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000003681
|
SMART Domains |
Protein: ENSMUSP00000003681 Gene: ENSMUSG00000003585
Domain | Start | End | E-Value | Type |
CRAL_TRIO_N
|
34 |
59 |
1.16e-6 |
SMART |
SEC14
|
76 |
246 |
8.31e-62 |
SMART |
Blast:SEC14
|
257 |
338 |
2e-42 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000119801
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123901
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132421
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133631
|
Coding Region Coverage |
- 1x: 82.6%
- 3x: 72.9%
- 10x: 45.3%
- 20x: 23.4%
|
Validation Efficiency |
93% (53/57) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytosolic protein which belongs to a family of lipid-binding proteins including Sec14p, alpha-tocopherol transfer protein, and cellular retinol-binding protein. The encoded protein stimulates squalene monooxygenase which is a downstream enzyme in the cholesterol biosynthetic pathway. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Oct 2008] PHENOTYPE: Mice homozygous for a null allele exhibit decreased cholesterol synthesis and plasma levels under fasting conditions compared to wild-type mice. [provided by MGI curators]
|
Allele List at MGI |
All alleles(5) : Targeted(4) Gene trapped(1)
|
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bicd2 |
C |
A |
13: 49,533,127 (GRCm39) |
P571Q |
probably benign |
Het |
Camta2 |
A |
G |
11: 70,574,831 (GRCm39) |
I75T |
probably damaging |
Het |
Casp1 |
A |
T |
9: 5,299,851 (GRCm39) |
H108L |
probably benign |
Het |
Copa |
A |
G |
1: 171,939,515 (GRCm39) |
E593G |
possibly damaging |
Het |
Ftsj3 |
C |
A |
11: 106,145,634 (GRCm39) |
M66I |
possibly damaging |
Het |
Kdm2a |
C |
T |
19: 4,393,273 (GRCm39) |
|
probably benign |
Het |
Klhl14 |
T |
C |
18: 21,691,192 (GRCm39) |
Y446C |
probably damaging |
Het |
Lims1 |
A |
G |
10: 58,254,277 (GRCm39) |
N344D |
probably benign |
Het |
Marco |
A |
T |
1: 120,402,441 (GRCm39) |
W502R |
probably damaging |
Het |
Ms4a10 |
T |
C |
19: 10,941,492 (GRCm39) |
D159G |
probably damaging |
Het |
Msi2 |
A |
T |
11: 88,285,423 (GRCm39) |
M207K |
probably damaging |
Het |
Myh15 |
C |
T |
16: 48,901,571 (GRCm39) |
T249I |
possibly damaging |
Het |
Nap1l5 |
T |
A |
6: 58,883,810 (GRCm39) |
N48I |
probably damaging |
Het |
Nup188 |
A |
G |
2: 30,212,693 (GRCm39) |
D632G |
probably damaging |
Het |
Or1n2 |
T |
C |
2: 36,797,582 (GRCm39) |
V208A |
probably benign |
Het |
Phactr4 |
G |
C |
4: 132,098,401 (GRCm39) |
T252R |
probably damaging |
Het |
Sim2 |
C |
A |
16: 93,910,281 (GRCm39) |
H228N |
probably benign |
Het |
Tent4a |
G |
A |
13: 69,655,074 (GRCm39) |
R224* |
probably null |
Het |
Tmem26 |
A |
G |
10: 68,614,548 (GRCm39) |
E321G |
probably benign |
Het |
Yif1b |
T |
C |
7: 28,938,038 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Sec14l2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01365:Sec14l2
|
APN |
11 |
4,048,317 (GRCm39) |
missense |
probably benign |
|
IGL01369:Sec14l2
|
APN |
11 |
4,053,432 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01404:Sec14l2
|
APN |
11 |
4,066,710 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL01622:Sec14l2
|
APN |
11 |
4,053,966 (GRCm39) |
missense |
possibly damaging |
0.58 |
IGL01623:Sec14l2
|
APN |
11 |
4,053,966 (GRCm39) |
missense |
possibly damaging |
0.58 |
IGL02007:Sec14l2
|
APN |
11 |
4,061,114 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02632:Sec14l2
|
APN |
11 |
4,061,222 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02644:Sec14l2
|
APN |
11 |
4,053,380 (GRCm39) |
splice site |
probably benign |
|
Samoas
|
UTSW |
11 |
4,053,980 (GRCm39) |
missense |
possibly damaging |
0.74 |
PIT1430001:Sec14l2
|
UTSW |
11 |
4,059,209 (GRCm39) |
nonsense |
probably null |
|
R0113:Sec14l2
|
UTSW |
11 |
4,053,661 (GRCm39) |
splice site |
probably benign |
|
R1705:Sec14l2
|
UTSW |
11 |
4,053,980 (GRCm39) |
missense |
possibly damaging |
0.74 |
R2044:Sec14l2
|
UTSW |
11 |
4,061,435 (GRCm39) |
splice site |
probably benign |
|
R2180:Sec14l2
|
UTSW |
11 |
4,058,964 (GRCm39) |
missense |
probably damaging |
1.00 |
R2215:Sec14l2
|
UTSW |
11 |
4,059,169 (GRCm39) |
missense |
probably damaging |
1.00 |
R5301:Sec14l2
|
UTSW |
11 |
4,068,727 (GRCm39) |
start gained |
probably benign |
|
R5668:Sec14l2
|
UTSW |
11 |
4,059,189 (GRCm39) |
missense |
probably damaging |
1.00 |
R5949:Sec14l2
|
UTSW |
11 |
4,058,972 (GRCm39) |
missense |
probably damaging |
1.00 |
R6050:Sec14l2
|
UTSW |
11 |
4,061,477 (GRCm39) |
missense |
probably benign |
0.36 |
R6369:Sec14l2
|
UTSW |
11 |
4,053,962 (GRCm39) |
missense |
possibly damaging |
0.69 |
R6467:Sec14l2
|
UTSW |
11 |
4,061,161 (GRCm39) |
missense |
probably damaging |
1.00 |
R6798:Sec14l2
|
UTSW |
11 |
4,061,213 (GRCm39) |
missense |
probably damaging |
1.00 |
R7142:Sec14l2
|
UTSW |
11 |
4,048,379 (GRCm39) |
missense |
probably benign |
0.04 |
R7385:Sec14l2
|
UTSW |
11 |
4,066,750 (GRCm39) |
nonsense |
probably null |
|
R7594:Sec14l2
|
UTSW |
11 |
4,061,213 (GRCm39) |
missense |
probably damaging |
1.00 |
R7704:Sec14l2
|
UTSW |
11 |
4,058,574 (GRCm39) |
missense |
probably benign |
0.19 |
R8438:Sec14l2
|
UTSW |
11 |
4,059,202 (GRCm39) |
nonsense |
probably null |
|
R9307:Sec14l2
|
UTSW |
11 |
4,068,665 (GRCm39) |
missense |
probably benign |
0.01 |
R9756:Sec14l2
|
UTSW |
11 |
4,053,978 (GRCm39) |
nonsense |
probably null |
|
T0722:Sec14l2
|
UTSW |
11 |
4,053,673 (GRCm39) |
critical splice donor site |
probably null |
|
X0067:Sec14l2
|
UTSW |
11 |
4,066,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Protein Function and Prediction |
Sec14l2 (alternatively TAP or supernatant protein factor (SPF)) is involved in α-tocopherol-dependent transcriptional activation (1). TAP/SPF is a member of a family of cytosolic lipid-binding proteins. SPF stimulates the conversion of squalene to lanosterol in the downstream pathway for cholesterol biosynthesis (2).
|
Expression/Localization |
RT-PCR followed by ELISA of human tissues detected moderate expression in kidney, spleen, testis, ovary, and fetal liver. Lower levels were detected in whole brain, lung, and adult liver (3). Another study using mRNA dot blot analysis detected broad tissue distribution, with highest expression in liver, prostate, and brain (4). Northern blot analysis detected a major transcript of 2.8 kb and 2 minor transcripts of approximately 4.2 and 2.8 kb expressed at highest levels in liver and brain and more weakly in kidney (4). TAP translocates from the cytosol to nucleus in an α-tocopherol-dependent fashion (1).
|
Background |
Sec14l2tm1Arai/tm1Arai; MGI:3771069
involves: 129S7/SvEvBrd
Mice homozygous for a null allele exhibit decreased cholesterol synthesis and plasma levels under fasting conditions compared to wild-type mice (5).
|
References |
1. Yamauchi, J., Iwamoto, T., Kida, S., Masushige, S., Yamada, K., and Esashi, T. (2001) Tocopherol-Associated Protein is a Ligand-Dependent Transcriptional Activator. Biochem Biophys Res Commun. 285, 295-299.
3. Hirosawa, M., Nagase, T., Ishikawa, K., Kikuno, R., Nomura, N., and Ohara, O. (1999) Characterization of cDNA Clones Selected by the GeneMark Analysis from Size-Fractionated cDNA Libraries from Human Brain. DNA Res. 6, 329-336.
4. Zimmer, S., Stocker, A., Sarbolouki, M. N., Spycher, S. E., Sassoon, J., and Azzi, A. (2000) A Novel Human Tocopherol-Associated Protein: Cloning, in Vitro Expression, and Characterization. J Biol Chem. 275, 25672-25680.
5. Shibata, N., Jishage, K., Arita, M., Watanabe, M., Kawase, Y., Nishikawa, K., Natori, Y., Inoue, H., Shimano, H., Yamada, N., Tsujimoto, M., and Arai, H. (2006) Regulation of Hepatic Cholesterol Synthesis by a Novel Protein (SPF) that Accelerates Cholesterol Biosynthesis. FASEB J. 20, 2642-2644.
|
Posted On |
2012-11-20 |
Science Writer |
Anne Murray |