Incidental Mutation 'IGL01150:Sec14l3'
ID52399
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sec14l3
Ensembl Gene ENSMUSG00000054986
Gene NameSEC14-like lipid binding 3
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.111) question?
Stock #IGL01150
Quality Score
Status
Chromosome11
Chromosomal Location4064841-4077736 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 4076238 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000065084 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068322]
Predicted Effect probably benign
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
Coding Region Coverage
Validation Efficiency
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A G 5: 8,702,550 D507G possibly damaging Het
Actl6a A G 3: 32,712,164 I60V probably benign Het
Adra2c T C 5: 35,281,141 F419S probably damaging Het
Afap1l2 T C 19: 56,930,186 Y105C probably damaging Het
Arid4b C T 13: 14,195,374 Q1152* probably null Het
Arsj A G 3: 126,438,784 D393G probably benign Het
Avp T C 2: 130,580,673 probably benign Het
Cacna2d3 C T 14: 29,183,641 V390I possibly damaging Het
Ccdc25 T A 14: 65,860,202 M195K possibly damaging Het
Cdhr2 T A 13: 54,731,118 S979T probably benign Het
Cog2 T C 8: 124,542,891 F390S possibly damaging Het
Dennd5b A G 6: 149,068,085 V290A probably benign Het
Ebf1 T C 11: 44,869,100 L188P probably damaging Het
Fam129a T C 1: 151,717,721 V719A probably benign Het
Galt T C 4: 41,757,786 probably benign Het
Gm12830 C T 4: 114,845,064 T141I unknown Het
Herc2 T A 7: 56,181,133 W2965R probably damaging Het
Hrg A G 16: 22,959,159 probably null Het
Ighv8-5 T C 12: 115,067,574 Y115C probably damaging Het
Igkv12-89 A G 6: 68,835,143 V14A probably benign Het
Nav2 A C 7: 49,452,521 T295P probably benign Het
Nrg1 G A 8: 31,917,875 T110I probably damaging Het
Olfr1183 T C 2: 88,462,075 V264A possibly damaging Het
Olfr555 A C 7: 102,659,492 K224Q probably benign Het
Olfr847 A T 9: 19,375,239 I214N probably damaging Het
Pclo T C 5: 14,676,912 probably benign Het
Polg2 T C 11: 106,777,432 probably null Het
Ptges G T 2: 30,892,708 R111S probably damaging Het
Rbbp4 T C 4: 129,322,875 probably benign Het
Rundc3a T C 11: 102,393,776 V34A probably benign Het
Scn3a C A 2: 65,497,365 probably null Het
Strip1 C T 3: 107,626,731 probably null Het
Svep1 T A 4: 58,070,302 I2495F probably benign Het
Syne1 A G 10: 5,443,154 S71P probably damaging Het
Tedc1 C T 12: 113,163,188 R357* probably null Het
Tmem161b C T 13: 84,292,407 R133* probably null Het
Tnnc2 A T 2: 164,777,833 I71N probably damaging Het
Vps13d T C 4: 145,149,275 N1554S probably benign Het
Wfdc3 A T 2: 164,732,203 probably benign Het
Zfp648 A T 1: 154,205,364 H423L probably damaging Het
Other mutations in Sec14l3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01382:Sec14l3 APN 11 4068104 missense probably damaging 0.98
IGL02304:Sec14l3 APN 11 4074768 missense probably damaging 1.00
IGL02565:Sec14l3 APN 11 4076237 splice site probably benign
IGL02836:Sec14l3 APN 11 4070084 missense probably benign 0.02
R0183:Sec14l3 UTSW 11 4075547 missense probably benign 0.03
R0597:Sec14l3 UTSW 11 4074814 missense probably damaging 1.00
R1425:Sec14l3 UTSW 11 4066487 missense probably damaging 1.00
R1834:Sec14l3 UTSW 11 4066510 splice site probably benign
R2090:Sec14l3 UTSW 11 4075481 missense probably benign 0.00
R3839:Sec14l3 UTSW 11 4071544 intron probably null
R4424:Sec14l3 UTSW 11 4066210 missense probably damaging 1.00
R4948:Sec14l3 UTSW 11 4068101 missense possibly damaging 0.75
R5124:Sec14l3 UTSW 11 4075209 missense possibly damaging 0.67
R5588:Sec14l3 UTSW 11 4066138 missense probably damaging 1.00
R5635:Sec14l3 UTSW 11 4071484 missense probably damaging 1.00
R6185:Sec14l3 UTSW 11 4075244 missense probably damaging 1.00
R6192:Sec14l3 UTSW 11 4075566 splice site probably null
R6699:Sec14l3 UTSW 11 4075193 missense possibly damaging 0.78
R7002:Sec14l3 UTSW 11 4075263 missense possibly damaging 0.87
R7351:Sec14l3 UTSW 11 4074785 missense probably benign 0.00
R7357:Sec14l3 UTSW 11 4070127 missense probably benign 0.03
R7845:Sec14l3 UTSW 11 4067972 missense probably benign 0.38
R7890:Sec14l3 UTSW 11 4074795 missense probably damaging 0.96
R8108:Sec14l3 UTSW 11 4066198 missense probably damaging 1.00
RF011:Sec14l3 UTSW 11 4067963 missense possibly damaging 0.95
Posted On2013-06-21