Incidental Mutation 'IGL02081:Ttpal'
ID 283383
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ttpal
Ensembl Gene ENSMUSG00000017679
Gene Name tocopherol (alpha) transfer protein-like
Synonyms 5830472M02Rik, 3110080A02Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.131) question?
Stock # IGL02081
Quality Score
Status
Chromosome 2
Chromosomal Location 163444234-163460933 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 163457308 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 260 (N260S)
Ref Sequence ENSEMBL: ENSMUSP00000128922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109405] [ENSMUST00000109408] [ENSMUST00000156839] [ENSMUST00000171696]
AlphaFold Q9D3D0
Predicted Effect probably benign
Transcript: ENSMUST00000109405
SMART Domains Protein: ENSMUSP00000105032
Gene: ENSMUSG00000017679

DomainStartEndE-ValueType
low complexity region 22 30 N/A INTRINSIC
CRAL_TRIO_N 78 103 4.17e-8 SMART
Blast:SEC14 122 153 7e-13 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000109408
AA Change: N260S

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000105035
Gene: ENSMUSG00000017679
AA Change: N260S

DomainStartEndE-ValueType
low complexity region 22 30 N/A INTRINSIC
CRAL_TRIO_N 78 103 4.17e-8 SMART
SEC14 122 280 1.57e-30 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132904
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144729
Predicted Effect probably benign
Transcript: ENSMUST00000156839
SMART Domains Protein: ENSMUSP00000121527
Gene: ENSMUSG00000017679

DomainStartEndE-ValueType
low complexity region 22 30 N/A INTRINSIC
CRAL_TRIO_N 78 103 4.17e-8 SMART
Pfam:CRAL_TRIO 124 196 5.8e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171696
AA Change: N260S

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000128922
Gene: ENSMUSG00000017679
AA Change: N260S

DomainStartEndE-ValueType
low complexity region 22 30 N/A INTRINSIC
CRAL_TRIO_N 78 103 4.17e-8 SMART
SEC14 122 280 1.57e-30 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a G T 8: 44,023,233 (GRCm39) L86I probably damaging Het
Adamts17 C T 7: 66,711,858 (GRCm39) R726C probably damaging Het
Aff1 A G 5: 103,982,171 (GRCm39) K778R probably damaging Het
Agr2 G A 12: 36,045,655 (GRCm39) probably null Het
Alms1 T A 6: 85,597,285 (GRCm39) C1173S possibly damaging Het
Apol7b A G 15: 77,307,736 (GRCm39) L253P possibly damaging Het
Atp10a A T 7: 58,477,604 (GRCm39) T1268S possibly damaging Het
Atr A T 9: 95,765,258 (GRCm39) K1149N probably damaging Het
Bri3bp G A 5: 125,518,961 (GRCm39) probably null Het
Ccser1 T A 6: 61,288,152 (GRCm39) L105* probably null Het
Cyp4a10 G A 4: 115,378,369 (GRCm39) A152T possibly damaging Het
Dock2 C T 11: 34,204,355 (GRCm39) D1396N probably benign Het
Ext1 A T 15: 52,936,842 (GRCm39) Y634* probably null Het
Fbh1 T C 2: 11,768,938 (GRCm39) D285G probably benign Het
Gcn1 A G 5: 115,723,930 (GRCm39) K529E probably damaging Het
H2-Q2 A G 17: 35,561,684 (GRCm39) D58G probably damaging Het
Hid1 T C 11: 115,239,332 (GRCm39) D776G possibly damaging Het
Il18r1 A T 1: 40,537,665 (GRCm39) S477C probably damaging Het
Irag1 T C 7: 110,523,281 (GRCm39) probably null Het
Jmjd1c T G 10: 67,055,305 (GRCm39) F242V probably benign Het
Krtap4-1 G A 11: 99,519,010 (GRCm39) probably benign Het
Mms19 A G 19: 41,938,418 (GRCm39) probably null Het
Mpdz T C 4: 81,254,106 (GRCm39) T1009A probably damaging Het
Mrpl22 T C 11: 58,062,647 (GRCm39) I19T probably benign Het
Nup88 A G 11: 70,845,480 (GRCm39) probably benign Het
Or5b94 A T 19: 12,652,180 (GRCm39) I204F probably benign Het
Pnpo T C 11: 96,830,150 (GRCm39) Y183C probably damaging Het
Poln C T 5: 34,286,483 (GRCm39) M228I probably benign Het
Scara5 T C 14: 65,968,104 (GRCm39) W126R possibly damaging Het
Scmh1 T G 4: 120,372,275 (GRCm39) C359W probably damaging Het
Snrpn T C 7: 59,637,194 (GRCm39) I41V possibly damaging Het
St8sia1 T C 6: 142,774,953 (GRCm39) M209V probably benign Het
Stard9 T A 2: 120,495,391 (GRCm39) S89T probably damaging Het
Tet1 T C 10: 62,649,597 (GRCm39) T1667A probably damaging Het
Tmem217 C T 17: 29,745,347 (GRCm39) G128S probably damaging Het
Vwa2 A G 19: 56,890,668 (GRCm39) D233G probably benign Het
Wdr83 A G 8: 85,802,472 (GRCm39) F258L probably benign Het
Zfp277 A T 12: 40,378,795 (GRCm39) L354* probably null Het
Zfp516 A G 18: 82,973,858 (GRCm39) R19G probably benign Het
Other mutations in Ttpal
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01097:Ttpal APN 2 163,449,240 (GRCm39) missense probably damaging 1.00
IGL02561:Ttpal APN 2 163,449,369 (GRCm39) missense probably damaging 1.00
IGL02643:Ttpal APN 2 163,449,140 (GRCm39) utr 5 prime probably benign
P0023:Ttpal UTSW 2 163,453,729 (GRCm39) missense probably damaging 1.00
R1562:Ttpal UTSW 2 163,457,323 (GRCm39) missense probably benign 0.00
R1670:Ttpal UTSW 2 163,457,286 (GRCm39) missense possibly damaging 0.90
R2879:Ttpal UTSW 2 163,457,503 (GRCm39) splice site probably null
R4915:Ttpal UTSW 2 163,449,397 (GRCm39) missense probably damaging 1.00
R4949:Ttpal UTSW 2 163,455,671 (GRCm39) missense probably damaging 1.00
R7471:Ttpal UTSW 2 163,448,945 (GRCm39) splice site probably null
R9252:Ttpal UTSW 2 163,449,105 (GRCm39) intron probably benign
R9599:Ttpal UTSW 2 163,457,458 (GRCm39) missense probably benign 0.00
R9667:Ttpal UTSW 2 163,449,596 (GRCm39) critical splice donor site probably null
Posted On 2015-04-16