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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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
Posted On 2012-11-20
Science Writer Anne Murray