Incidental Mutation 'IGL02643:Ttpal'
ID301846
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ttpal
Ensembl Gene ENSMUSG00000017679
Gene Nametocopherol (alpha) transfer protein-like
Synonyms3110080A02Rik, 5830472M02Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.189) question?
Stock #IGL02643
Quality Score
Status
Chromosome2
Chromosomal Location163602314-163619013 bp(+) (GRCm38)
Type of Mutationutr 5 prime
DNA Base Change (assembly) A to G at 163607220 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000128922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109405] [ENSMUST00000109408] [ENSMUST00000152135] [ENSMUST00000156839] [ENSMUST00000171696]
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
SMART Domains Protein: ENSMUSP00000105035
Gene: ENSMUSG00000017679

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: ENSMUST00000152135
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
SMART Domains Protein: ENSMUSP00000128922
Gene: ENSMUSG00000017679

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 T G 5: 121,631,570 M608L probably benign Het
Adamts2 A T 11: 50,788,700 M836L probably benign Het
Ankrd11 A T 8: 122,892,322 M1597K probably damaging Het
Arhgef17 A T 7: 100,883,882 F1145L possibly damaging Het
Atp13a3 A T 16: 30,333,796 W32R probably null Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Bod1l T A 5: 41,818,805 E1722V possibly damaging Het
Ceacam16 A G 7: 19,861,161 probably benign Het
Col14a1 T A 15: 55,420,862 Y840N unknown Het
Dlg5 A G 14: 24,191,182 C132R probably damaging Het
Dock4 T A 12: 40,668,430 N242K probably damaging Het
Dsg3 G A 18: 20,528,955 V426I probably benign Het
Dync1h1 T C 12: 110,659,272 probably benign Het
Flvcr2 T A 12: 85,796,223 M357K possibly damaging Het
Gapvd1 A G 2: 34,704,180 S932P probably damaging Het
Gata4 T A 14: 63,204,755 D205V possibly damaging Het
Gm5244 T C 19: 12,846,936 noncoding transcript Het
Kcnk2 T A 1: 189,258,779 I195L possibly damaging Het
Krt1 T C 15: 101,847,044 I427V probably benign Het
Mapk1ip1l T A 14: 47,310,882 H162Q possibly damaging Het
Micu1 A G 10: 59,839,736 D380G probably damaging Het
Mknk2 A C 10: 80,668,601 L289R probably damaging Het
Myo18a A T 11: 77,778,172 N286I possibly damaging Het
Olfr291 A T 7: 84,857,031 I221F probably damaging Het
Pdp1 C T 4: 11,962,062 R83H probably benign Het
Ptafr A C 4: 132,580,126 I276L probably benign Het
Rab3gap2 A T 1: 185,267,000 D968V possibly damaging Het
Samd8 T A 14: 21,793,144 M447K probably damaging Het
Six5 G T 7: 19,097,530 V649L probably benign Het
Slc1a2 T A 2: 102,739,880 F168I probably benign Het
Slc1a7 G A 4: 108,012,300 V521M possibly damaging Het
Soga1 A G 2: 157,040,743 V463A probably damaging Het
Sorbs1 T C 19: 40,365,133 D206G possibly damaging Het
Stim2 T C 5: 54,110,613 V417A probably damaging Het
Tbx20 A G 9: 24,773,713 probably benign Het
Tia1 A G 6: 86,416,390 I71V probably benign Het
Ttc7 T C 17: 87,340,899 S509P possibly damaging Het
Tubgcp2 A T 7: 139,996,154 N865K probably damaging Het
Wdr45 G T X: 7,727,049 E62* probably null Het
Zfp507 A G 7: 35,795,231 F129S probably damaging Het
Zfp518b T A 5: 38,674,155 H169L probably damaging Het
Other mutations in Ttpal
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01097:Ttpal APN 2 163607320 missense probably damaging 1.00
IGL02081:Ttpal APN 2 163615388 missense probably benign 0.04
IGL02561:Ttpal APN 2 163607449 missense probably damaging 1.00
P0023:Ttpal UTSW 2 163611809 missense probably damaging 1.00
R1562:Ttpal UTSW 2 163615403 missense probably benign 0.00
R1670:Ttpal UTSW 2 163615366 missense possibly damaging 0.90
R2879:Ttpal UTSW 2 163615583 unclassified probably null
R4915:Ttpal UTSW 2 163607477 missense probably damaging 1.00
R4949:Ttpal UTSW 2 163613751 missense probably damaging 1.00
Posted On2015-04-16