Incidental Mutation 'IGL01365:Sec14l2'
ID 75898
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sec14l2
Ensembl Gene ENSMUSG00000003585
Gene Name SEC14-like lipid binding 2
Synonyms Spf, tap, 1300013M05Rik
Accession Numbers

Ncbi RefSeq: NM_144520.2; MGI:1915065

Is this an essential gene? Probably non essential (E-score: 0.193) question?
Stock # IGL01365
Quality Score
Status
Chromosome 11
Chromosomal Location 4097039-4123415 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 4098317 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 400 (D400E)
Ref Sequence ENSEMBL: ENSMUSP00000003681 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003681] [ENSMUST00000004868]
AlphaFold Q99J08
Predicted Effect probably benign
Transcript: ENSMUST00000003681
AA Change: D400E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000003681
Gene: ENSMUSG00000003585
AA Change: D400E

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 benign
Transcript: ENSMUST00000004868
SMART Domains Protein: ENSMUSP00000004868
Gene: ENSMUSG00000004748

DomainStartEndE-ValueType
Pfam:MTP18 11 149 1.2e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123607
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123901
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132421
Coding Region Coverage
Validation Efficiency
MGI Phenotype Strain: 3771069
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre5 G T 8: 83,723,889 probably null Het
Agtr1a A G 13: 30,381,828 Y292C probably damaging Het
Btbd11 T C 10: 85,633,816 V867A possibly damaging Het
CK137956 A G 4: 127,951,342 S203P probably benign Het
Cnbd1 C T 4: 18,860,576 G390D probably damaging Het
Cttnbp2nl T C 3: 105,005,030 T513A probably damaging Het
Dppa2 A G 16: 48,313,913 K67R possibly damaging Het
Kif3a A G 11: 53,593,523 K486E possibly damaging Het
Lmnb2 G T 10: 80,904,984 Q151K probably benign Het
Lmtk3 T A 7: 45,790,907 L223Q probably damaging Het
Lrrk1 A G 7: 66,287,701 I901T probably damaging Het
Macf1 T C 4: 123,391,169 Y3624C probably damaging Het
Mios T A 6: 8,216,089 Y428* probably null Het
Myb A G 10: 21,152,502 I154T probably benign Het
Olfr294 T C 7: 86,615,997 Y216C probably damaging Het
Parp9 C T 16: 35,947,954 T168I possibly damaging Het
Pramel7 T C 2: 87,491,413 probably benign Het
Ptar1 T A 19: 23,705,801 W140R probably damaging Het
Setd3 A T 12: 108,157,906 Y175N probably damaging Het
Slc5a8 C T 10: 88,892,097 probably benign Het
Slc8a3 A G 12: 81,315,376 V223A probably damaging Het
Srsf1 G T 11: 88,049,181 R173L possibly damaging Het
Svep1 T A 4: 58,100,878 probably null Het
Tead2 T A 7: 45,217,251 D11E probably damaging Het
Trappc12 T A 12: 28,747,402 I44F probably damaging Het
Ttll9 T C 2: 153,000,134 Y303H possibly damaging Het
Vmn1r28 T A 6: 58,265,191 N6K possibly damaging Het
Other mutations in Sec14l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01369:Sec14l2 APN 11 4103432 missense probably benign 0.03
IGL01404:Sec14l2 APN 11 4116710 missense possibly damaging 0.71
IGL01622:Sec14l2 APN 11 4103966 missense possibly damaging 0.58
IGL01623:Sec14l2 APN 11 4103966 missense possibly damaging 0.58
IGL02007:Sec14l2 APN 11 4111114 missense probably benign 0.00
IGL02632:Sec14l2 APN 11 4111222 missense probably benign 0.00
IGL02644:Sec14l2 APN 11 4103380 splice site probably benign
Samoas UTSW 11 4103980 missense possibly damaging 0.74
P0027:Sec14l2 UTSW 11 4103673 critical splice donor site probably null
PIT1430001:Sec14l2 UTSW 11 4109209 nonsense probably null
R0113:Sec14l2 UTSW 11 4103661 splice site probably benign
R1705:Sec14l2 UTSW 11 4103980 missense possibly damaging 0.74
R2044:Sec14l2 UTSW 11 4111435 splice site probably benign
R2180:Sec14l2 UTSW 11 4108964 missense probably damaging 1.00
R2215:Sec14l2 UTSW 11 4109169 missense probably damaging 1.00
R5301:Sec14l2 UTSW 11 4118727 start gained probably benign
R5668:Sec14l2 UTSW 11 4109189 missense probably damaging 1.00
R5949:Sec14l2 UTSW 11 4108972 missense probably damaging 1.00
R6050:Sec14l2 UTSW 11 4111477 missense probably benign 0.36
R6369:Sec14l2 UTSW 11 4103962 missense possibly damaging 0.69
R6467:Sec14l2 UTSW 11 4111161 missense probably damaging 1.00
R6798:Sec14l2 UTSW 11 4111213 missense probably damaging 1.00
R7142:Sec14l2 UTSW 11 4098379 missense probably benign 0.04
R7385:Sec14l2 UTSW 11 4116750 nonsense probably null
R7594:Sec14l2 UTSW 11 4111213 missense probably damaging 1.00
R7704:Sec14l2 UTSW 11 4108574 missense probably benign 0.19
R8438:Sec14l2 UTSW 11 4109202 nonsense probably null
R9307:Sec14l2 UTSW 11 4118665 missense probably benign 0.01
T0722:Sec14l2 UTSW 11 4103673 critical splice donor site probably null
X0067:Sec14l2 UTSW 11 4116737 missense probably damaging 1.00
Posted On 2013-10-07