Incidental Mutation 'IGL02987:Gltp'
ID 406769
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gltp
Ensembl Gene ENSMUSG00000011884
Gene Name glycolipid transfer protein
Synonyms 1110001F24Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.267) question?
Stock # IGL02987
Quality Score
Status
Chromosome 5
Chromosomal Location 114807551-114828996 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 114812243 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Valine at position 88 (F88V)
Ref Sequence ENSEMBL: ENSMUSP00000107831 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012028] [ENSMUST00000112212] [ENSMUST00000112214]
AlphaFold Q9JL62
Predicted Effect probably benign
Transcript: ENSMUST00000012028
AA Change: F107V

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000012028
Gene: ENSMUSG00000011884
AA Change: F107V

DomainStartEndE-ValueType
Pfam:GLTP 16 169 4.7e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112212
AA Change: F88V

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000107831
Gene: ENSMUSG00000011884
AA Change: F88V

DomainStartEndE-ValueType
Pfam:GLTP 16 83 6e-18 PFAM
Pfam:GLTP 79 150 3.4e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112214
AA Change: F77V

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000107833
Gene: ENSMUSG00000011884
AA Change: F77V

DomainStartEndE-ValueType
Pfam:GLTP 16 80 2.1e-16 PFAM
Pfam:GLTP 72 139 9.4e-18 PFAM
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 similar to bovine and porcine proteins which accelerate transfer of certain glycosphingolipids and glyceroglycolipids between membranes. It is thought to be a cytoplasmic protein. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1e1 T C 13: 4,643,591 (GRCm39) D222G probably damaging Het
Apbb1ip T A 2: 22,757,649 (GRCm39) Y422* probably null Het
Asf1a T C 10: 53,473,367 (GRCm39) F28L probably damaging Het
Atp6v1c1 T A 15: 38,690,806 (GRCm39) M319K possibly damaging Het
Bsn A G 9: 108,003,503 (GRCm39) S301P probably benign Het
Cds1 A G 5: 101,960,391 (GRCm39) I281V possibly damaging Het
Col4a4 T C 1: 82,476,646 (GRCm39) probably benign Het
Coq2 G A 5: 100,811,554 (GRCm39) Q103* probably null Het
Dgkh A G 14: 78,827,312 (GRCm39) probably null Het
Dnah9 A G 11: 65,746,098 (GRCm39) I4005T probably damaging Het
Dnah9 C A 11: 65,732,099 (GRCm39) R4269L probably benign Het
F2rl1 T A 13: 95,650,741 (GRCm39) Q47L probably benign Het
Fhod3 T C 18: 25,246,610 (GRCm39) V1272A possibly damaging Het
Gdpd4 T C 7: 97,610,758 (GRCm39) probably benign Het
Gfral A G 9: 76,104,583 (GRCm39) V143A possibly damaging Het
Hectd1 T G 12: 51,791,550 (GRCm39) K2565T probably damaging Het
Jade2 A G 11: 51,721,308 (GRCm39) S207P probably damaging Het
Khdc3 A G 9: 73,009,948 (GRCm39) I53V possibly damaging Het
Lce1a1 T C 3: 92,554,409 (GRCm39) T22A unknown Het
Lgals9 A T 11: 78,858,303 (GRCm39) H196Q possibly damaging Het
Lrrc37a A T 11: 103,391,239 (GRCm39) N1395K probably benign Het
Mast1 C T 8: 85,652,348 (GRCm39) V268I possibly damaging Het
Myh11 T G 16: 14,050,396 (GRCm39) E523A probably damaging Het
Napb T C 2: 148,539,431 (GRCm39) probably null Het
Nlrp4e G A 7: 23,000,858 (GRCm39) R51H probably damaging Het
Ola1 T C 2: 72,987,242 (GRCm39) D130G probably benign Het
Or8c13 A T 9: 38,091,919 (GRCm39) S67T possibly damaging Het
Pard3 G A 8: 128,115,972 (GRCm39) C687Y probably damaging Het
Rassf9 A G 10: 102,381,109 (GRCm39) T164A possibly damaging Het
Sema3a A G 5: 13,615,863 (GRCm39) Y429C probably damaging Het
Slc25a54 T C 3: 109,023,653 (GRCm39) V416A probably benign Het
Slc30a5 T C 13: 100,940,423 (GRCm39) T631A probably damaging Het
Sorl1 A T 9: 41,952,349 (GRCm39) C736S probably damaging Het
Tet3 A T 6: 83,345,074 (GRCm39) S1788T probably damaging Het
Trim42 A G 9: 97,247,868 (GRCm39) V276A probably benign Het
Other mutations in Gltp
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4621:Gltp UTSW 5 114,812,188 (GRCm39) missense probably damaging 0.99
R5163:Gltp UTSW 5 114,812,122 (GRCm39) missense probably benign 0.04
R6328:Gltp UTSW 5 114,808,572 (GRCm39) missense possibly damaging 0.60
R7514:Gltp UTSW 5 114,808,521 (GRCm39) missense probably benign 0.00
R7819:Gltp UTSW 5 114,812,161 (GRCm39) missense probably benign
R9629:Gltp UTSW 5 114,814,382 (GRCm39) missense probably benign
R9716:Gltp UTSW 5 114,808,470 (GRCm39) makesense probably null
Posted On 2016-08-02