Incidental Mutation 'IGL01622:Sec14l2'
ID 278634
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sec14l2
Ensembl Gene ENSMUSG00000003585
Gene Name SEC14-like lipid binding 2
Synonyms 1300013M05Rik, Spf, tap
Accession Numbers
Essential gene? Probably non essential (E-score: 0.134) question?
Stock # IGL01622
Quality Score
Status
Chromosome 11
Chromosomal Location 4047039-4068729 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 4053966 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 234 (P234S)
Ref Sequence ENSEMBL: ENSMUSP00000003681 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003681]
AlphaFold Q99J08
Predicted Effect possibly damaging
Transcript: ENSMUST00000003681
AA Change: P234S

PolyPhen 2 Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000003681
Gene: ENSMUSG00000003585
AA Change: P234S

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
Validation Efficiency
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik G A 14: 35,532,024 (GRCm39) Q184* probably null Het
A1bg A C 15: 60,789,742 (GRCm39) I502S possibly damaging Het
Actl11 T C 9: 107,805,775 (GRCm39) S33P probably benign Het
Aftph G T 11: 20,659,632 (GRCm39) D730E probably damaging Het
Arhgap29 A G 3: 121,767,773 (GRCm39) probably benign Het
Brf1 T G 12: 112,924,795 (GRCm39) E643A probably benign Het
Caskin1 G T 17: 24,722,914 (GRCm39) probably null Het
Ccnjl T C 11: 43,476,154 (GRCm39) V259A probably benign Het
Ccser2 G T 14: 36,662,920 (GRCm39) T88K probably benign Het
Cdk17 T C 10: 93,074,824 (GRCm39) probably benign Het
Clec16a G A 16: 10,395,774 (GRCm39) S309N possibly damaging Het
Cpxm1 C A 2: 130,233,191 (GRCm39) A633S probably benign Het
Ctnnbl1 A T 2: 157,661,468 (GRCm39) N326I probably damaging Het
Cyp46a1 T C 12: 108,318,234 (GRCm39) V215A possibly damaging Het
Daxx A G 17: 34,132,454 (GRCm39) D528G probably benign Het
Dnah6 T C 6: 73,121,701 (GRCm39) Y1427C probably damaging Het
Dpy19l3 G A 7: 35,422,169 (GRCm39) T228I probably damaging Het
Fam131c C T 4: 141,109,761 (GRCm39) A131V possibly damaging Het
Fat1 A G 8: 45,482,592 (GRCm39) T3061A possibly damaging Het
Fgl2 T A 5: 21,578,175 (GRCm39) L154H possibly damaging Het
Fhod3 T A 18: 25,155,924 (GRCm39) I514K probably benign Het
Ficd G A 5: 113,876,622 (GRCm39) G266S probably damaging Het
Frem3 A G 8: 81,340,544 (GRCm39) T946A probably benign Het
Gan T A 8: 117,913,917 (GRCm39) V105D probably damaging Het
Garin5b A G 7: 4,761,722 (GRCm39) V330A probably benign Het
Gramd1c A G 16: 43,811,061 (GRCm39) V221A probably damaging Het
Hacd1 A G 2: 14,040,667 (GRCm39) V196A probably benign Het
Kcna6 C A 6: 126,715,576 (GRCm39) V438L probably damaging Het
Kif14 T C 1: 136,425,094 (GRCm39) probably benign Het
Klhl41 T C 2: 69,508,582 (GRCm39) V512A probably benign Het
Lrfn1 A G 7: 28,166,111 (GRCm39) T502A probably damaging Het
Notch3 A T 17: 32,377,844 (GRCm39) F105I possibly damaging Het
Or4b13 T G 2: 90,082,953 (GRCm39) K126N probably damaging Het
Or5m10 A T 2: 85,717,306 (GRCm39) H54L probably benign Het
P3h1 C T 4: 119,092,480 (GRCm39) T171I probably damaging Het
Pcdhb1 A G 18: 37,399,366 (GRCm39) E439G possibly damaging Het
Pik3c3 A T 18: 30,423,578 (GRCm39) K225* probably null Het
Pik3c3 A G 18: 30,426,102 (GRCm39) probably benign Het
Pik3r5 T A 11: 68,377,452 (GRCm39) probably null Het
Pnpt1 A C 11: 29,098,272 (GRCm39) probably benign Het
Ppp2r1b T A 9: 50,789,422 (GRCm39) V495D probably damaging Het
Rbfox3 C A 11: 118,396,440 (GRCm39) probably benign Het
Sec16a A C 2: 26,328,915 (GRCm39) D1033E probably benign Het
Septin14 A G 5: 129,763,019 (GRCm39) V357A probably damaging Het
Sf3a3 C T 4: 124,612,136 (GRCm39) T131I possibly damaging Het
Snrpa A T 7: 26,892,395 (GRCm39) M55K probably benign Het
Swt1 G T 1: 151,286,760 (GRCm39) T244N probably benign Het
Tbl1xr1 A G 3: 22,246,238 (GRCm39) T253A probably benign Het
Tst G T 15: 78,283,964 (GRCm39) R288S probably benign Het
Vmn2r60 A G 7: 41,785,910 (GRCm39) I238V probably benign Het
Zbtb14 A G 17: 69,695,184 (GRCm39) K294R probably benign Het
Zfp710 T A 7: 79,730,871 (GRCm39) V16E probably damaging Het
Zfpm2 A G 15: 40,965,320 (GRCm39) T602A probably benign Het
Zfr2 G A 10: 81,087,193 (GRCm39) M850I probably benign 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
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
P0027:Sec14l2 UTSW 11 4,053,673 (GRCm39) critical splice donor site probably null
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
Posted On 2015-04-16