Incidental Mutation 'R8068:Ttpa'
Institutional Source Beutler Lab
Gene Symbol Ttpa
Ensembl Gene ENSMUSG00000073988
Gene Nametocopherol (alpha) transfer protein
Synonymsalpha-TTP, alpha TTP
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.169) question?
Stock #R8068 (G1)
Quality Score225.009
Status Not validated
Chromosomal Location20007938-20030785 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 20028419 bp
Amino Acid Change Histidine to Glutamine at position 225 (H225Q)
Ref Sequence ENSEMBL: ENSMUSP00000095845 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098244] [ENSMUST00000117632] [ENSMUST00000121491]
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 probably damaging
Transcript: ENSMUST00000098244
AA Change: H225Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095845
Gene: ENSMUSG00000073988
AA Change: H225Q

CRAL_TRIO_N 48 73 1.64e-6 SMART
SEC14 95 250 1.47e-39 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000117632
AA Change: T225K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000113026
Gene: ENSMUSG00000073988
AA Change: T225K

CRAL_TRIO_N 48 73 1.64e-6 SMART
SEC14 95 247 1.87e-23 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000121491
AA Change: H156Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113966
Gene: ENSMUSG00000073988
AA Change: H156Q

SEC14 26 181 1.47e-39 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam39 T A 8: 40,825,938 D455E not run Het
Aldoc T C 11: 78,324,727 F79S possibly damaging Het
Atmin A G 8: 116,956,650 S350G probably benign Het
Bms1 A G 6: 118,413,750 F206S probably damaging Het
Carmil1 T A 13: 24,075,728 I698L probably benign Het
Cd47 T A 16: 49,895,416 S182T Het
Ces2e G T 8: 104,932,997 probably null Het
Cit T C 5: 115,982,235 S1370P probably benign Het
Cit C A 5: 115,952,466 H906Q probably damaging Het
Dchs2 T C 3: 83,300,438 F1739L probably benign Het
Dlx4 T C 11: 95,145,330 Y51C possibly damaging Het
Drosha T A 15: 12,883,190 Y796* probably null Het
Elf1 T A 14: 79,536,390 F14I probably benign Het
Fam135b T C 15: 71,532,978 Q73R probably damaging Het
Gatad1 T C 5: 3,643,540 R210G probably benign Het
Gls2 C G 10: 128,195,114 R81G unknown Het
Hnrnpll T C 17: 80,050,852 M157V possibly damaging Het
Itgb3 T A 11: 104,665,511 M726K probably benign Het
Kcna10 T G 3: 107,194,410 M119R possibly damaging Het
Kcnh1 A G 1: 192,241,942 T155A probably benign Het
Kctd9 T A 14: 67,724,662 D51E unknown Het
Lgr6 T C 1: 135,063,664 I129V probably benign Het
Lrrfip1 A T 1: 91,128,102 D598V probably damaging Het
Ltbp4 G T 7: 27,324,168 Q850K probably damaging Het
Mdm1 A G 10: 118,146,804 R115G possibly damaging Het
Mns1 A C 9: 72,448,527 probably null Het
Mthfs G A 9: 89,211,235 R14Q probably damaging Het
Muc2 T A 7: 141,744,685 S25T Het
Ncapd3 T C 9: 27,063,361 S710P possibly damaging Het
Nrip1 T A 16: 76,292,953 H572L possibly damaging Het
Nrp2 C T 1: 62,745,408 R239C probably damaging Het
Olfr1020 A G 2: 85,849,806 E118G probably damaging Het
Olfr1152 A G 2: 87,868,651 Y220C probably benign Het
Olfr656 T A 7: 104,618,253 C191* probably null Het
Opa3 A G 7: 19,244,985 E125G probably damaging Het
P3h1 A G 4: 119,236,862 Y238C probably damaging Het
Pappa2 T C 1: 158,935,985 D652G possibly damaging Het
Pcdha11 T A 18: 37,005,565 N82K probably damaging Het
Pde4b T C 4: 102,596,015 I293T probably damaging Het
Qk T C 17: 10,318,803 D24G possibly damaging Het
Rbpjl A G 2: 164,408,518 K197E possibly damaging Het
Rnf111 A T 9: 70,457,941 S415T probably benign Het
Scyl1 A G 19: 5,760,825 V488A probably damaging Het
Slc1a6 G C 10: 78,812,872 V476L possibly damaging Het
Slc22a17 A T 14: 54,908,908 F84I probably benign Het
Slc22a4 A C 11: 53,997,443 I253S possibly damaging Het
Speer2 T C 16: 69,860,524 H77R possibly damaging Het
Speg T C 1: 75,422,250 S2114P probably damaging Het
Synpo2 T A 3: 123,117,392 R201S possibly damaging Het
Vmn1r45 A T 6: 89,933,279 H236Q possibly damaging Het
Vmn2r7 A T 3: 64,716,086 V271D probably benign Het
Wdr66 A G 5: 123,256,166 S373G not run Het
Zfp53 A T 17: 21,509,012 T436S probably benign Het
Other mutations in Ttpa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02932:Ttpa APN 4 20021215 missense possibly damaging 0.83
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
R8242:Ttpa UTSW 4 20028511 missense probably damaging 1.00
R8385:Ttpa UTSW 4 20028483 missense probably damaging 1.00
R8692:Ttpa UTSW 4 20008585 missense probably benign 0.05
Predicted Primers PCR Primer

Sequencing Primer
Posted On2020-01-23