Incidental Mutation 'R5124:Sec14l3'
ID 393454
Institutional Source Beutler Lab
Gene Symbol Sec14l3
Ensembl Gene ENSMUSG00000054986
Gene Name SEC14-like lipid binding 3
Synonyms 1110069O07Rik
MMRRC Submission 042712-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R5124 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 4014841-4027736 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4025209 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 273 (D273G)
Ref Sequence ENSEMBL: ENSMUSP00000065084 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068322]
AlphaFold Q5SQ27
Predicted Effect possibly damaging
Transcript: ENSMUST00000068322
AA Change: D273G

PolyPhen 2 Score 0.668 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000065084
Gene: ENSMUSG00000054986
AA Change: D273G

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
Meta Mutation Damage Score 0.1431 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.5%
Validation Efficiency 100% (60/60)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm4 A T 4: 144,401,289 (GRCm39) I65N probably damaging Het
Adpgk A G 9: 59,222,561 (GRCm39) D496G possibly damaging Het
Agbl4 A G 4: 111,513,525 (GRCm39) M424V probably benign Het
Akap10 C T 11: 61,807,015 (GRCm39) A72T probably damaging Het
Bpifa3 C T 2: 153,980,057 (GRCm39) Q230* probably null Het
Cog4 G T 8: 111,573,825 (GRCm39) R48L probably damaging Het
Cop1 A G 1: 159,105,682 (GRCm39) Y33C probably damaging Het
Cyp26a1 A T 19: 37,689,665 (GRCm39) I454L probably benign Het
Ddr1 T C 17: 35,994,489 (GRCm39) H762R probably damaging Het
Dnajc2 A T 5: 21,968,482 (GRCm39) S328T probably benign Het
Dppa2 G T 16: 48,131,986 (GRCm39) V28F probably damaging Het
Dusp15 T A 2: 152,793,275 (GRCm39) M1L possibly damaging Het
Eml5 G A 12: 98,758,301 (GRCm39) T1875M probably damaging Het
Fam186a A G 15: 99,840,977 (GRCm39) S1756P possibly damaging Het
Gm5431 T A 11: 48,779,866 (GRCm39) Q630L probably benign Het
H6pd A G 4: 150,066,512 (GRCm39) S625P possibly damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kcnj6 G T 16: 94,633,518 (GRCm39) P180T probably damaging Het
Lpin3 T A 2: 160,738,981 (GRCm39) M263K probably benign Het
Lrp2 A T 2: 69,331,834 (GRCm39) D1640E probably damaging Het
Lypd2 C T 15: 74,604,347 (GRCm39) A74T probably benign Het
Map4k1 T C 7: 28,688,257 (GRCm39) L223P probably damaging Het
Myh7 A T 14: 55,223,199 (GRCm39) Y715* probably null Het
Myo9b T C 8: 71,808,483 (GRCm39) S1697P probably damaging Het
Neb T C 2: 52,171,510 (GRCm39) E1661G probably damaging Het
Nek8 A T 11: 78,063,765 (GRCm39) M80K probably damaging Het
Nup188 T A 2: 30,220,947 (GRCm39) L979Q probably damaging Het
Or4c113 A T 2: 88,885,431 (GRCm39) V113D probably damaging Het
P4htm T A 9: 108,459,141 (GRCm39) S264C possibly damaging Het
Pcdha8 A G 18: 37,126,768 (GRCm39) T417A probably benign Het
Pclo T C 5: 14,727,406 (GRCm39) probably benign Het
Prox1 T A 1: 189,893,476 (GRCm39) N323I possibly damaging Het
Prune2 A T 19: 17,177,274 (GRCm39) R222S probably damaging Het
Psmd2 C A 16: 20,471,448 (GRCm39) R100S possibly damaging Het
Qrich2 A T 11: 116,337,599 (GRCm39) M1963K probably damaging Het
Rbm39 C T 2: 156,001,082 (GRCm39) G324D probably damaging Het
Rhobtb1 A T 10: 69,105,731 (GRCm39) probably null Het
Rhov G T 2: 119,101,568 (GRCm39) P13T unknown Het
Sirpd T A 3: 15,385,639 (GRCm39) R88* probably null Het
Slco2a1 T A 9: 102,927,365 (GRCm39) I86N probably damaging Het
Smg1 A T 7: 117,812,235 (GRCm39) S19T probably benign Het
Stk32a T C 18: 43,438,082 (GRCm39) S194P probably benign Het
Syna G A 5: 134,588,424 (GRCm39) S175L possibly damaging Het
Taf4 G A 2: 179,573,822 (GRCm39) T682M probably damaging Het
Tmem151b T C 17: 45,858,045 (GRCm39) Y67C probably damaging Het
Tshz1 C T 18: 84,033,592 (GRCm39) R272Q probably damaging Het
Tti1 A G 2: 157,850,115 (GRCm39) S375P probably damaging Het
Vcan T C 13: 89,873,636 (GRCm39) K73E probably damaging Het
Vmn1r202 C T 13: 22,685,920 (GRCm39) V166I probably benign Het
Vmn2r10 A G 5: 109,154,286 (GRCm39) V6A probably benign Het
Zfhx4 A G 3: 5,307,107 (GRCm39) D111G probably damaging Het
Zhx1 C G 15: 57,917,470 (GRCm39) G259R probably 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
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'- TAAGCTGAAAGAGGCTTCCAG -3'
(R):5'- AAAGCCAATGTCTGCACCGTC -3'

Sequencing Primer
(F):5'- CAGAGGATTGCTAGCCCTCTTAGAG -3'
(R):5'- AATGTCTGCACCGTCAGATG -3'
Posted On 2016-06-15