Incidental Mutation 'R2473:Sec14l4'
ID 253231
Institutional Source Beutler Lab
Gene Symbol Sec14l4
Ensembl Gene ENSMUSG00000019368
Gene Name SEC14-like lipid binding 4
Synonyms
MMRRC Submission 040404-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2473 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 3981462-3998024 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 3993359 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 218 (V218E)
Ref Sequence ENSEMBL: ENSMUSP00000019512 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019512]
AlphaFold Q8R0F9
Predicted Effect probably benign
Transcript: ENSMUST00000019512
AA Change: V218E

PolyPhen 2 Score 0.275 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000019512
Gene: ENSMUSG00000019368
AA Change: V218E

DomainStartEndE-ValueType
CRAL_TRIO_N 34 59 1.89e-6 SMART
SEC14 76 246 7.7e-57 SMART
Blast:SEC14 257 338 2e-36 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125351
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126423
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129689
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131171
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134482
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136222
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137324
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 94.9%
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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2009]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp8b4 T G 2: 126,200,814 (GRCm39) K785Q possibly damaging Het
Cacnb2 G A 2: 14,989,125 (GRCm39) D402N probably damaging Het
Cyp3a16 T A 5: 145,392,404 (GRCm39) I184F possibly damaging Het
Ephb4 T A 5: 137,363,962 (GRCm39) D611E probably benign Het
Habp2 G A 19: 56,276,464 (GRCm39) V13M possibly damaging Het
Mamdc4 C A 2: 25,456,344 (GRCm39) G713V probably damaging Het
Marveld2 C T 13: 100,733,829 (GRCm39) V269M probably damaging Het
Mbd5 T A 2: 49,169,353 (GRCm39) M1508K probably benign Het
Mgp T C 6: 136,850,162 (GRCm39) probably null Het
Mucl2 C G 15: 103,927,628 (GRCm39) E110Q possibly damaging Het
Mxra8 T C 4: 155,926,500 (GRCm39) F286S probably damaging Het
Or2t46 A G 11: 58,472,401 (GRCm39) T244A probably damaging Het
Or4g16 T C 2: 111,137,236 (GRCm39) S229P probably damaging Het
Or52h9 T C 7: 104,202,146 (GRCm39) Y7H possibly damaging Het
Or5p70 C T 7: 107,994,711 (GRCm39) A128V probably damaging Het
Pax3 C T 1: 78,099,227 (GRCm39) probably null Het
Polm T C 11: 5,779,881 (GRCm39) E339G possibly damaging Het
Sf3b1 C T 1: 55,038,785 (GRCm39) probably null Het
Six4 A G 12: 73,150,949 (GRCm39) V532A probably benign Het
Slc35c1 T A 2: 92,285,098 (GRCm39) D172V probably benign Het
Ttc39a A T 4: 109,299,436 (GRCm39) I428F probably damaging Het
Zfp414 CAAACTCTTCCGA CAAACTCTTCCGAAACTCTTCCGA 17: 33,849,551 (GRCm39) probably null Het
Other mutations in Sec14l4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02581:Sec14l4 APN 11 3,989,941 (GRCm39) missense possibly damaging 0.49
R0308:Sec14l4 UTSW 11 3,991,726 (GRCm39) splice site probably benign
R0538:Sec14l4 UTSW 11 3,990,018 (GRCm39) missense probably benign
R2327:Sec14l4 UTSW 11 3,990,041 (GRCm39) missense probably benign 0.01
R2409:Sec14l4 UTSW 11 3,990,048 (GRCm39) missense probably benign 0.18
R4581:Sec14l4 UTSW 11 3,993,375 (GRCm39) splice site probably null
R4684:Sec14l4 UTSW 11 3,985,200 (GRCm39) critical splice donor site probably null
R5530:Sec14l4 UTSW 11 3,996,342 (GRCm39) makesense probably null
R5977:Sec14l4 UTSW 11 3,990,055 (GRCm39) missense possibly damaging 0.89
R6057:Sec14l4 UTSW 11 3,985,142 (GRCm39) missense possibly damaging 0.95
R7664:Sec14l4 UTSW 11 3,994,178 (GRCm39) nonsense probably null
R8465:Sec14l4 UTSW 11 3,993,948 (GRCm39) missense probably damaging 1.00
R9228:Sec14l4 UTSW 11 3,989,977 (GRCm39) missense probably damaging 1.00
R9753:Sec14l4 UTSW 11 3,989,982 (GRCm39) missense probably benign 0.13
X0026:Sec14l4 UTSW 11 3,990,100 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TCTGCTGACTGCTGAGAACC -3'
(R):5'- TGATCTGGAACTGGAAGCCC -3'

Sequencing Primer
(F):5'- GCATGGCAGAATCCAGACCTG -3'
(R):5'- AACTGGAAGCCCACTCTGTGTG -3'
Posted On 2014-12-04