Incidental Mutation 'R7357:Sec14l3'
ID 571041
Institutional Source Beutler Lab
Gene Symbol Sec14l3
Ensembl Gene ENSMUSG00000054986
Gene Name SEC14-like lipid binding 3
Synonyms 1110069O07Rik
MMRRC Submission 045443-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R7357 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 4014841-4027736 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 4020127 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 188 (F188Y)
Ref Sequence ENSEMBL: ENSMUSP00000065084 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068322]
AlphaFold Q5SQ27
Predicted Effect probably benign
Transcript: ENSMUST00000068322
AA Change: F188Y

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000065084
Gene: ENSMUSG00000054986
AA Change: F188Y

DomainStartEndE-ValueType
CRAL_TRIO_N 34 59 2.71e-7 SMART
SEC14 76 247 1.18e-66 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 97% (64/66)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is highly similar to the protein encoded by the Saccharomyces cerevisiae SEC14 gene. The SEC14 protein is a phophatidylinositol transfer protein that is essential for biogenesis of Golgi-derived transport vesicles, and thus is required for the export of yeast secretory proteins from the Golgi complex. The specific function of this protein has not yet been determined. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430550D23Rik A T 2: 155,845,787 (GRCm39) H23Q unknown Het
9530068E07Rik A T 11: 52,297,821 (GRCm39) K233I probably damaging Het
Aldh1l2 T C 10: 83,350,408 (GRCm39) M320V possibly damaging Het
C2cd3 A G 7: 100,079,310 (GRCm39) N838S Het
Cacna1s T C 1: 135,998,759 (GRCm39) F218S probably damaging Het
Carmil3 G T 14: 55,728,590 (GRCm39) probably benign Het
Cd300a A T 11: 114,784,153 (GRCm39) T54S probably benign Het
Celf3 G A 3: 94,387,637 (GRCm39) E70K probably damaging Het
Celsr1 A C 15: 85,914,715 (GRCm39) M1086R probably benign Het
Ces2f G A 8: 105,676,595 (GRCm39) M96I probably benign Het
Chrdl2 G A 7: 99,678,414 (GRCm39) V329I probably benign Het
Ctc1 T A 11: 68,925,568 (GRCm39) L1035Q probably benign Het
Dbi A G 1: 120,047,623 (GRCm39) probably null Het
Dock3 A G 9: 106,882,568 (GRCm39) I405T probably benign Het
Dpp4 A T 2: 62,217,421 (GRCm39) W59R probably benign Het
Dsg3 T A 18: 20,672,840 (GRCm39) I837N probably damaging Het
Fbxw15 A G 9: 109,387,308 (GRCm39) V229A probably benign Het
Fermt3 T C 19: 6,980,211 (GRCm39) T395A probably benign Het
Focad A T 4: 88,147,572 (GRCm39) I404F probably benign Het
Gm8104 T C 14: 42,959,068 (GRCm39) I86T probably damaging Het
Gm9857 A C 3: 108,847,478 (GRCm39) L95R unknown Het
Hoxa1 A T 6: 52,133,929 (GRCm39) S266T probably benign Het
Kif19b A G 5: 140,480,806 (GRCm39) R979G possibly damaging Het
Leng8 T A 7: 4,147,932 (GRCm39) Y625* probably null Het
Mast3 A G 8: 71,237,503 (GRCm39) V557A probably damaging Het
Morc1 T C 16: 48,442,953 (GRCm39) F813L probably benign Het
Ntf3 T A 6: 126,078,961 (GRCm39) I182F probably damaging Het
Nup153 G T 13: 46,870,642 (GRCm39) A91E probably benign Het
Or13l2 G C 3: 97,317,971 (GRCm39) N175K probably damaging Het
Or52h1 A T 7: 103,828,978 (GRCm39) D212E probably damaging Het
Pamr1 G A 2: 102,417,049 (GRCm39) W120* probably null Het
Pcsk1 A G 13: 75,274,079 (GRCm39) N436S probably damaging Het
Pde4dip T C 3: 97,622,857 (GRCm39) K1451E probably benign Het
Pebp4 G A 14: 70,285,864 (GRCm39) V176I possibly damaging Het
Phgdh G A 3: 98,247,138 (GRCm39) A4V probably benign Het
Pik3c2g T C 6: 139,610,791 (GRCm39) probably null Het
Ppic T C 18: 53,544,139 (GRCm39) Y82C probably damaging Het
Ppip5k2 A G 1: 97,686,941 (GRCm39) V94A possibly damaging Het
Ppp1r9b T C 11: 94,895,424 (GRCm39) V704A probably benign Het
Pramel6 G T 2: 87,340,856 (GRCm39) R396L not run Het
Prss48 A T 3: 85,904,528 (GRCm39) D223E probably damaging Het
Psd3 T C 8: 68,574,149 (GRCm39) K11E probably benign Het
Rabgap1l T C 1: 160,169,608 (GRCm39) K780E probably damaging Het
Retreg1 A T 15: 25,972,029 (GRCm39) D323V probably damaging Het
Samd11 A T 4: 156,340,067 (GRCm39) probably null Het
Serpina5 A T 12: 104,069,639 (GRCm39) T284S possibly damaging Het
Setx A G 2: 29,020,313 (GRCm39) D100G probably benign Het
Sis A T 3: 72,832,404 (GRCm39) V1035D probably damaging Het
Slco4a1 A G 2: 180,113,930 (GRCm39) I456V probably benign Het
Snx14 A T 9: 88,286,369 (GRCm39) C393S possibly damaging Het
Stil T C 4: 114,871,423 (GRCm39) probably null Het
Sult6b1 A G 17: 79,202,059 (GRCm39) S148P probably damaging Het
Sycp2 G T 2: 178,045,597 (GRCm39) probably null Het
Tesmin T C 19: 3,447,042 (GRCm39) I273T probably benign Het
Tmem39a T A 16: 38,406,592 (GRCm39) Y310N probably damaging Het
Trp53bp1 A T 2: 121,041,781 (GRCm39) D1258E probably damaging Het
Ttc12 A C 9: 49,349,687 (GRCm39) D703E probably benign Het
Unc13c TATAA TATAATAA 9: 73,840,810 (GRCm39) probably benign Het
Unc13c ATA ATAGTA 9: 73,840,811 (GRCm39) probably benign Het
Usp18 T C 6: 121,230,808 (GRCm39) I79T possibly damaging Het
Usp9y A T Y: 1,333,656 (GRCm39) D1596E possibly damaging Het
Vmn2r109 A T 17: 20,761,536 (GRCm39) V607E probably damaging Het
Vwa8 G A 14: 79,275,641 (GRCm39) R808K probably null Het
Zfp248 A G 6: 118,406,618 (GRCm39) Y324H probably damaging Het
Zfp513 G A 5: 31,357,132 (GRCm39) P387S possibly damaging Het
Other mutations in Sec14l3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01150:Sec14l3 APN 11 4,026,238 (GRCm39) splice site probably benign
IGL01382:Sec14l3 APN 11 4,018,104 (GRCm39) missense probably damaging 0.98
IGL02304:Sec14l3 APN 11 4,024,768 (GRCm39) missense probably damaging 1.00
IGL02565:Sec14l3 APN 11 4,026,237 (GRCm39) splice site probably benign
IGL02836:Sec14l3 APN 11 4,020,084 (GRCm39) missense probably benign 0.02
R0183:Sec14l3 UTSW 11 4,025,547 (GRCm39) missense probably benign 0.03
R0597:Sec14l3 UTSW 11 4,024,814 (GRCm39) missense probably damaging 1.00
R1425:Sec14l3 UTSW 11 4,016,487 (GRCm39) missense probably damaging 1.00
R1834:Sec14l3 UTSW 11 4,016,510 (GRCm39) splice site probably benign
R2090:Sec14l3 UTSW 11 4,025,481 (GRCm39) missense probably benign 0.00
R3839:Sec14l3 UTSW 11 4,021,544 (GRCm39) splice site probably null
R4424:Sec14l3 UTSW 11 4,016,210 (GRCm39) missense probably damaging 1.00
R4948:Sec14l3 UTSW 11 4,018,101 (GRCm39) missense possibly damaging 0.75
R5124:Sec14l3 UTSW 11 4,025,209 (GRCm39) missense possibly damaging 0.67
R5588:Sec14l3 UTSW 11 4,016,138 (GRCm39) missense probably damaging 1.00
R5635:Sec14l3 UTSW 11 4,021,484 (GRCm39) missense probably damaging 1.00
R6185:Sec14l3 UTSW 11 4,025,244 (GRCm39) missense probably damaging 1.00
R6192:Sec14l3 UTSW 11 4,025,566 (GRCm39) splice site probably null
R6699:Sec14l3 UTSW 11 4,025,193 (GRCm39) missense possibly damaging 0.78
R7002:Sec14l3 UTSW 11 4,025,263 (GRCm39) missense possibly damaging 0.87
R7351:Sec14l3 UTSW 11 4,024,785 (GRCm39) missense probably benign 0.00
R7845:Sec14l3 UTSW 11 4,017,972 (GRCm39) missense probably benign 0.38
R7890:Sec14l3 UTSW 11 4,024,795 (GRCm39) missense probably damaging 0.96
R8108:Sec14l3 UTSW 11 4,016,198 (GRCm39) missense probably damaging 1.00
R9110:Sec14l3 UTSW 11 4,015,007 (GRCm39) critical splice donor site probably null
R9468:Sec14l3 UTSW 11 4,025,200 (GRCm39) missense probably damaging 1.00
R9569:Sec14l3 UTSW 11 4,026,324 (GRCm39) missense probably damaging 1.00
R9671:Sec14l3 UTSW 11 4,025,486 (GRCm39) missense probably damaging 0.98
RF011:Sec14l3 UTSW 11 4,017,963 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- TACCATCTGTTGTTAGAGTGGC -3'
(R):5'- GCTGAGTTTAGAGCTGCCTC -3'

Sequencing Primer
(F):5'- CTAACCATCTGAGGTGGATGC -3'
(R):5'- AGCTGCCTCTCTTGGAGTGAAAC -3'
Posted On 2019-09-13