Incidental Mutation 'IGL02932:Ttpa'
ID364144
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ttpa
Ensembl Gene ENSMUSG00000073988
Gene Nametocopherol (alpha) transfer protein
Synonymsalpha-TTP, alpha TTP
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.102) question?
Stock #IGL02932
Quality Score
Status
Chromosome4
Chromosomal Location20007938-20030785 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 20021215 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 128 (T128A)
Ref Sequence ENSEMBL: ENSMUSP00000095845 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098244] [ENSMUST00000117632] [ENSMUST00000121491] [ENSMUST00000125799]
PDB Structure
Crystal structure of mouse alpha-tocopherol transfer protein in complex with alpha-tocopherol and phosphatidylinositol-(3,4)-bisphosphate [X-RAY DIFFRACTION]
Crystal structure of mouse alpha-tocopherol transfer protein in complex with alpha-tocopherol and phosphatidylinositol-(4,5)-bisphosphate [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000098244
AA Change: T128A

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000095845
Gene: ENSMUSG00000073988
AA Change: T128A

DomainStartEndE-ValueType
CRAL_TRIO_N 48 73 1.64e-6 SMART
SEC14 95 250 1.47e-39 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000117632
AA Change: T128A

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000113026
Gene: ENSMUSG00000073988
AA Change: T128A

DomainStartEndE-ValueType
CRAL_TRIO_N 48 73 1.64e-6 SMART
SEC14 95 247 1.87e-23 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000121491
AA Change: T59A

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000113966
Gene: ENSMUSG00000073988
AA Change: T59A

DomainStartEndE-ValueType
SEC14 26 181 1.47e-39 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000125799
AA Change: T59A

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000117031
Gene: ENSMUSG00000073988
AA Change: T59A

DomainStartEndE-ValueType
Pfam:CRAL_TRIO 26 91 4.9e-9 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a soluble protein that binds alpha-trocopherol, a form of vitamin E, with high selectivity and affinity. This protein plays an important role in regulating vitamin E levels in the body by transporting vitamin E between membrane vesicles and facilitating the secretion of vitamin E from hepatocytes to circulating lipoproteins. Mutations in this gene cause hereditary vitamin E deficiency (ataxia with vitamin E deficiency, AVED) and retinitis pigmentosa. [provided by RefSeq, Nov 2009]
PHENOTYPE: Homozygotes for targeted null mutations exhibit vitamin E deficiency. Placentas from pregnant females have reduced labyrinthine trophoblasts resulting in midgestational embryonic lethality. Homozygotes for one targeted null allele display late-onset ataxia and retinal degeneration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap42 T A 9: 9,115,708 E122D probably damaging Het
Asb3 G A 11: 31,029,067 probably null Het
Avl9 T C 6: 56,736,551 S265P probably benign Het
Cep44 C T 8: 56,547,424 R18Q probably damaging Het
Clec10a T C 11: 70,169,728 probably benign Het
Cog4 A G 8: 110,852,433 I115V probably benign Het
Coq3 C T 4: 21,900,430 A219V probably benign Het
Cry2 G A 2: 92,413,117 R460* probably null Het
Ddx39b A G 17: 35,253,361 probably benign Het
Dhx40 G A 11: 86,771,929 R646C probably damaging Het
Ears2 G A 7: 122,063,061 R55C probably damaging Het
Eif3m C T 2: 105,014,869 G26R probably damaging Het
Exo5 A G 4: 120,922,545 L41P probably benign Het
Fut10 A G 8: 31,259,937 H417R probably damaging Het
Gars T A 6: 55,060,944 L296Q probably damaging Het
Gpr143 A T X: 152,793,443 probably benign Het
Htr1b C A 9: 81,631,636 R306L probably damaging Het
Lama3 G A 18: 12,528,801 A2185T probably damaging Het
Mbd5 C A 2: 49,279,448 Q1544K possibly damaging Het
Mccc1 T C 3: 35,960,029 E713G possibly damaging Het
Mttp A G 3: 138,111,744 F415S probably benign Het
Mug1 A G 6: 121,887,427 T1428A probably benign Het
Mup6 A C 4: 60,006,009 D159A probably damaging Het
Nsd2 T C 5: 33,880,128 L698P probably damaging Het
Olfr1184 G T 2: 88,487,175 V148F probably benign Het
Olfr1361 A T 13: 21,658,831 M164K probably damaging Het
Olfr495 A G 7: 108,395,513 N131S probably benign Het
Olfr815 A T 10: 129,902,418 C97* probably null Het
Osgepl1 G A 1: 53,321,516 R372H probably benign Het
Pias2 C T 18: 77,145,103 H537Y probably damaging Het
Slc38a7 A C 8: 95,846,155 I149M probably damaging Het
Smn1 A G 13: 100,127,964 T68A probably benign Het
Syde2 A G 3: 146,001,476 K657R possibly damaging Het
Tdrd5 A T 1: 156,270,620 H625Q possibly damaging Het
Tead3 T C 17: 28,341,351 Y2C probably damaging Het
Tmem255a T A X: 38,208,063 T280S probably benign Het
Wdhd1 A G 14: 47,272,134 probably null Het
Other mutations in Ttpa
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0190:Ttpa UTSW 4 20021260 missense probably damaging 1.00
R1950:Ttpa UTSW 4 20008633 missense probably damaging 1.00
R2171:Ttpa UTSW 4 20021357 missense probably damaging 1.00
R4362:Ttpa UTSW 4 20023827 nonsense probably null
R5344:Ttpa UTSW 4 20021245 missense probably damaging 0.97
R6111:Ttpa UTSW 4 20014772 missense probably damaging 0.99
R8068:Ttpa UTSW 4 20028419 missense probably damaging 1.00
R8242:Ttpa UTSW 4 20028511 missense probably damaging 1.00
R8385:Ttpa UTSW 4 20028483 missense probably damaging 1.00
Posted On2015-12-18