Incidental Mutation 'R6369:Sec14l2'
ID 512860
Institutional Source Beutler Lab
Gene Symbol Sec14l2
Ensembl Gene ENSMUSG00000003585
Gene Name SEC14-like lipid binding 2
Synonyms 1300013M05Rik, Spf, tap
MMRRC Submission 044519-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.134) question?
Stock # R6369 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 4047039-4068729 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4053962 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 235 (D235G)
Ref Sequence ENSEMBL: ENSMUSP00000003681 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003681]
AlphaFold Q99J08
Predicted Effect possibly damaging
Transcript: ENSMUST00000003681
AA Change: D235G

PolyPhen 2 Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000003681
Gene: ENSMUSG00000003585
AA Change: D235G

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: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
Validation Efficiency 98% (54/55)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afdn C T 17: 14,055,605 (GRCm39) R571* probably null Het
Asb18 A T 1: 89,942,193 (GRCm39) I36N probably damaging Het
Ascc3 G A 10: 50,576,081 (GRCm39) G779S probably damaging Het
Atl2 T C 17: 80,161,984 (GRCm39) Q205R probably damaging Het
Axdnd1 A G 1: 156,220,315 (GRCm39) I235T probably damaging Het
Bri3bp A G 5: 125,531,765 (GRCm39) N237S probably damaging Het
Ccdc191 A G 16: 43,735,848 (GRCm39) N256S probably benign Het
Cchcr1 T C 17: 35,839,073 (GRCm39) I474T probably damaging Het
Cd209c T C 8: 3,994,984 (GRCm39) Y60C probably damaging Het
Cd300c C A 11: 114,848,381 (GRCm39) D171Y probably damaging Het
Crb1 C T 1: 139,165,200 (GRCm39) V975M probably damaging Het
Csmd1 C T 8: 17,585,020 (GRCm39) probably benign Het
Ctnna2 A G 6: 76,957,678 (GRCm39) S524P possibly damaging Het
Eno1 T C 4: 150,324,025 (GRCm39) probably null Het
Ero1a T C 14: 45,537,415 (GRCm39) I170M probably damaging Het
Fam186a A G 15: 99,845,212 (GRCm39) M344T unknown Het
Frem1 A T 4: 82,832,029 (GRCm39) probably null Het
Gjb5 G T 4: 127,249,723 (GRCm39) D140E possibly damaging Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Hk2 G T 6: 82,713,734 (GRCm39) S449R probably damaging Het
Hs3st3a1 A T 11: 64,411,427 (GRCm39) I322F probably benign Het
Itga1 T C 13: 115,102,196 (GRCm39) I1145V probably damaging Het
Kcp A G 6: 29,484,693 (GRCm39) L1295S probably damaging Het
Macf1 T C 4: 123,304,355 (GRCm39) D49G possibly damaging Het
Mef2b T A 8: 70,618,209 (GRCm39) D96E probably benign Het
Megf10 A T 18: 57,394,259 (GRCm39) D461V probably benign Het
Myom1 T C 17: 71,408,071 (GRCm39) S1104P probably damaging Het
Nab1 A G 1: 52,529,381 (GRCm39) L172P probably damaging Het
Or2g1 T G 17: 38,106,387 (GRCm39) D17E probably benign Het
Pate1 A G 9: 35,598,324 (GRCm39) V18A probably benign Het
Pink1 T C 4: 138,048,045 (GRCm39) probably null Het
Pnpla1 T A 17: 29,097,455 (GRCm39) I207N probably damaging Het
Ppp1r12b T C 1: 134,814,280 (GRCm39) E341G possibly damaging Het
Ppp1r21 C A 17: 88,889,840 (GRCm39) probably null Het
Rad52 A G 6: 119,891,168 (GRCm39) E76G unknown Het
Rad54l A G 4: 115,968,386 (GRCm39) probably null Het
Rasgrf2 T C 13: 92,267,954 (GRCm39) M17V probably benign Het
Rbm42 A G 7: 30,340,738 (GRCm39) M411T unknown Het
Reln A G 5: 22,256,359 (GRCm39) I495T probably benign Het
Rnf224 A G 2: 25,125,954 (GRCm39) F133S probably damaging Het
Rrm1 C A 7: 102,095,909 (GRCm39) H87Q probably damaging Het
Serpinb3d G T 1: 107,008,483 (GRCm39) N127K probably benign Het
Skint7 A T 4: 111,837,490 (GRCm39) E89D probably benign Het
Slc22a5 T G 11: 53,782,196 (GRCm39) N57T probably damaging Het
Smarcd3 A T 5: 24,799,982 (GRCm39) F263I probably damaging Het
Sncaip A G 18: 53,001,676 (GRCm39) I66V probably damaging Het
Syngr1 A C 15: 79,999,791 (GRCm39) probably benign Het
Tbc1d2 A G 4: 46,614,420 (GRCm39) Y554H probably benign Het
Tmem198 T C 1: 75,456,387 (GRCm39) V44A probably benign Het
Trappc11 T C 8: 47,965,320 (GRCm39) probably null Het
Uox C T 3: 146,330,332 (GRCm39) R163* probably null Het
Vmn2r111 C T 17: 22,767,583 (GRCm39) C638Y probably damaging Het
Washc4 A G 10: 83,410,308 (GRCm39) Y632C probably damaging Het
Zfp212 T C 6: 47,907,831 (GRCm39) V270A probably benign Het
Zfp92 G A X: 72,465,574 (GRCm39) R189H possibly damaging Homo
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
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
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
Predicted Primers PCR Primer
(F):5'- GCTTGGGAATGTCGCCCC -3'
(R):5'- CCCACAACTGTGCTCCAT -3'

Sequencing Primer
(F):5'- GAATGTCGCCCCCATAGTTG -3'
(R):5'- ACGCACACACATACACTTTATAC -3'
Posted On 2018-04-27