Incidental Mutation 'R3839:Sec14l3'
ID 359665
Institutional Source Beutler Lab
Gene Symbol Sec14l3
Ensembl Gene ENSMUSG00000054986
Gene Name SEC14-like lipid binding 3
Synonyms 1110069O07Rik
MMRRC Submission 040892-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R3839 (G1)
Quality Score 33
Status Validated
Chromosome 11
Chromosomal Location 4014841-4027736 bp(+) (GRCm39)
Type of Mutation splice site (49 bp from exon)
DNA Base Change (assembly) A to G at 4021544 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000065084 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068322]
AlphaFold Q5SQ27
Predicted Effect probably null
Transcript: ENSMUST00000068322
SMART Domains Protein: ENSMUSP00000065084
Gene: ENSMUSG00000054986

DomainStartEndE-ValueType
CRAL_TRIO_N 34 59 2.71e-7 SMART
SEC14 76 247 1.18e-66 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123208
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125898
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126396
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129330
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.8%
  • 20x: 96.4%
Validation Efficiency 98% (48/49)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028I16Rik A G 10: 82,648,219 (GRCm39) noncoding transcript Het
Abraxas2 T A 7: 132,484,867 (GRCm39) S303R probably benign Het
Ackr3 G A 1: 90,141,850 (GRCm39) S103N probably damaging Het
Arhgef25 T C 10: 127,025,605 (GRCm39) T12A probably benign Het
Aspm C T 1: 139,405,792 (GRCm39) H1560Y probably benign Het
Atg10 A T 13: 91,085,499 (GRCm39) I150K probably damaging Het
AW551984 T C 9: 39,509,204 (GRCm39) probably benign Het
Cald1 A T 6: 34,722,700 (GRCm39) D122V probably damaging Het
Cc2d2a T C 5: 43,876,056 (GRCm39) V1011A probably benign Het
Cdh9 G T 15: 16,823,524 (GRCm39) E169* probably null Het
Cmbl T C 15: 31,582,144 (GRCm39) V47A probably damaging Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging Het
Ctnnd2 T A 15: 31,009,174 (GRCm39) probably null Het
Cyp4a10 A C 4: 115,382,544 (GRCm39) E278A possibly damaging Het
Ddx56 T C 11: 6,217,712 (GRCm39) D3G probably benign Het
Dnajb2 G A 1: 75,218,124 (GRCm39) probably null Het
Eif3d T A 15: 77,848,300 (GRCm39) T211S probably benign Het
Fam13c C T 10: 70,378,478 (GRCm39) S336L probably damaging Het
Garnl3 C T 2: 32,879,558 (GRCm39) G923S probably benign Het
Gcnt4 A T 13: 97,083,522 (GRCm39) R273* probably null Het
Gldc T A 19: 30,096,075 (GRCm39) probably benign Het
Glra2 C T X: 164,072,612 (GRCm39) V85I probably benign Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably null Het
Gpam T C 19: 55,068,890 (GRCm39) N450S probably benign Het
Gpr156 T A 16: 37,808,962 (GRCm39) V228D probably damaging Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Hmgcr A G 13: 96,795,597 (GRCm39) I324T probably benign Het
Itga3 A G 11: 94,948,095 (GRCm39) probably null Het
Itih1 T A 14: 30,657,785 (GRCm39) N429Y probably damaging Het
Klhl40 A G 9: 121,609,482 (GRCm39) Y453C possibly damaging Het
Mid1ip1 T C X: 10,584,620 (GRCm39) V51A possibly damaging Het
Msn C A X: 95,203,805 (GRCm39) Q303K probably damaging Het
Nap1l1 T A 10: 111,331,183 (GRCm39) probably null Het
Rala A T 13: 18,067,759 (GRCm39) C91S probably damaging Het
Rps9 A G 7: 3,709,823 (GRCm39) probably benign Het
Sdr16c5 C A 4: 4,006,601 (GRCm39) M230I probably damaging Het
Senp2 T C 16: 21,828,485 (GRCm39) S32P probably damaging Het
Skor1 A C 9: 63,051,730 (GRCm39) S746R probably damaging Het
Slc17a4 C T 13: 24,085,752 (GRCm39) R387H probably benign Het
Slc47a1 G T 11: 61,243,884 (GRCm39) probably benign Het
Slit3 A T 11: 35,399,064 (GRCm39) N143I probably benign Het
Tpbg T C 9: 85,725,167 (GRCm39) probably benign Het
Tubb2a G T 13: 34,259,294 (GRCm39) N165K probably benign Het
Usp14 A G 18: 10,024,532 (GRCm39) probably null Het
Vmn2r109 A G 17: 20,774,704 (GRCm39) V217A probably damaging Het
Zfp108 A G 7: 23,959,981 (GRCm39) I191V probably benign 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
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
R7357:Sec14l3 UTSW 11 4,020,127 (GRCm39) missense probably benign 0.03
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'- CATTGTGGAAATGTGGCCCAG -3'
(R):5'- GCCTTACTCTACAGCTTAGGTG -3'

Sequencing Primer
(F):5'- AGTGGCTTGATCTCTCCCTG -3'
(R):5'- ACTCTACAGCTTAGGTGTGAAGC -3'
Posted On 2015-11-12