Incidental Mutation 'IGL02561:Ttpal'
ID 298671
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 # IGL02561
Quality Score
Status
Chromosome 2
Chromosomal Location 163444234-163460933 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 163449369 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 75 (T75A)
Ref Sequence ENSEMBL: ENSMUSP00000128922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109405] [ENSMUST00000109408] [ENSMUST00000152135] [ENSMUST00000156839] [ENSMUST00000171696]
AlphaFold Q9D3D0
Predicted Effect probably damaging
Transcript: ENSMUST00000109405
AA Change: T75A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105032
Gene: ENSMUSG00000017679
AA Change: T75A

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 damaging
Transcript: ENSMUST00000109408
AA Change: T75A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105035
Gene: ENSMUSG00000017679
AA Change: T75A

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
AA Change: T75A

PolyPhen 2 Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000121527
Gene: ENSMUSG00000017679
AA Change: T75A

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 damaging
Transcript: ENSMUST00000171696
AA Change: T75A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128922
Gene: ENSMUSG00000017679
AA Change: T75A

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 T A 5: 105,125,536 (GRCm39) Q49L probably benign Het
Aifm2 A G 10: 61,561,786 (GRCm39) D44G probably damaging Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cmya5 T C 13: 93,228,366 (GRCm39) T2241A probably benign Het
Cntn4 C T 6: 106,500,470 (GRCm39) P316S probably damaging Het
Ctnna2 G T 6: 77,822,563 (GRCm39) S13R probably benign Het
Cyb5a G A 18: 84,889,637 (GRCm39) G46D probably damaging Het
Daam1 T C 12: 71,993,290 (GRCm39) V353A unknown Het
Ddx6 C T 9: 44,545,465 (GRCm39) T417I probably damaging Het
Fcgbp C T 7: 27,800,599 (GRCm39) probably benign Het
Gdi2 T C 13: 3,598,954 (GRCm39) I46T possibly damaging Het
Gm3629 T C 14: 17,805,586 (GRCm39) probably benign Het
Grap2 A T 15: 80,532,049 (GRCm39) probably benign Het
Gsto2 T C 19: 47,874,629 (GRCm39) probably benign Het
Gtf2a1 A T 12: 91,542,527 (GRCm39) D57E possibly damaging Het
Hif1a A G 12: 73,988,980 (GRCm39) I622M possibly damaging Het
Hmcn1 T C 1: 150,685,477 (GRCm39) T328A probably benign Het
Ighv1-54 T C 12: 115,157,389 (GRCm39) K86R probably benign Het
Igkv4-55 C T 6: 69,584,360 (GRCm39) S84N probably damaging Het
Ilvbl T C 10: 78,412,978 (GRCm39) S167P probably benign Het
Kcnn2 A G 18: 45,725,259 (GRCm39) I252V possibly damaging Het
Lss T C 10: 76,376,264 (GRCm39) probably benign Het
Mlip C A 9: 77,088,633 (GRCm39) probably null Het
Ncbp1 C T 4: 46,159,711 (GRCm39) T408M possibly damaging Het
Notch4 A G 17: 34,787,134 (GRCm39) probably benign Het
Npepps A T 11: 97,120,675 (GRCm39) C528* probably null Het
Nxf2 T C X: 133,857,201 (GRCm39) T163A probably benign Het
Or4c119 T C 2: 88,987,485 (GRCm39) I11M possibly damaging Het
Phka1 A T X: 101,641,895 (GRCm39) probably benign Het
Ptpn13 T G 5: 103,710,157 (GRCm39) L1564R probably damaging Het
Robo3 A G 9: 37,338,387 (GRCm39) S343P possibly damaging Het
Smarca2 A G 19: 26,693,582 (GRCm39) D1262G possibly damaging Het
Spns1 C T 7: 125,972,941 (GRCm39) probably null Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Usp34 A G 11: 23,301,652 (GRCm39) T359A probably benign Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Zic2 A T 14: 122,715,957 (GRCm39) K360* probably null Het
Other mutations in Ttpal
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01097:Ttpal APN 2 163,449,240 (GRCm39) missense probably damaging 1.00
IGL02081:Ttpal APN 2 163,457,308 (GRCm39) missense probably benign 0.04
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