Incidental Mutation 'P0023:Ttpal'
ID15706
Institutional Source Beutler Lab
Gene Symbol Ttpal
Ensembl Gene ENSMUSG00000017679
Gene Nametocopherol (alpha) transfer protein-like
Synonyms3110080A02Rik, 5830472M02Rik
MMRRC Submission 038276-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.142) question?
Stock #P0023 (G1)
Quality Score
Status Validated
Chromosome2
Chromosomal Location163602314-163619013 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 163611809 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 167 (Y167H)
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 damaging
Transcript: ENSMUST00000109408
AA Change: Y167H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105035
Gene: ENSMUSG00000017679
AA Change: Y167H

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 damaging
Transcript: ENSMUST00000156839
AA Change: Y167H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000121527
Gene: ENSMUSG00000017679
AA Change: Y167H

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: Y167H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128922
Gene: ENSMUSG00000017679
AA Change: Y167H

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
Meta Mutation Damage Score 0.4903 question?
Coding Region Coverage
  • 1x: 85.1%
  • 3x: 76.2%
  • 10x: 34.8%
  • 20x: 2.4%
Validation Efficiency 97% (62/64)
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr3 A T 1: 125,395,066 probably null Het
Chp2 A G 7: 122,222,138 N185S probably benign Het
Cited2 A G 10: 17,724,715 D257G probably damaging Het
Clptm1l G T 13: 73,604,952 R62L possibly damaging Het
Cmya5 C T 13: 93,089,346 S3078N probably benign Het
Dcaf1 T A 9: 106,860,451 F1169I probably benign Het
Efhc1 G A 1: 20,955,527 V86I probably benign Het
Fanci A C 7: 79,402,300 D107A probably benign Het
Fyb A T 15: 6,651,854 K74M probably damaging Het
Gapvd1 A G 2: 34,706,688 probably benign Het
Gm11992 T C 11: 9,052,846 Y70H probably damaging Het
Lrba A G 3: 86,417,935 E1900G probably damaging Het
Lrpprc G A 17: 84,726,338 T1037M probably benign Het
Olfr914 A G 9: 38,606,645 Y60C probably damaging Het
Piezo2 A G 18: 63,386,200 probably benign Het
Pld1 T C 3: 28,048,125 S342P probably damaging Het
Prkag3 A G 1: 74,740,739 L479P probably damaging Het
Rsf1 T C 7: 97,662,271 I736T probably damaging Het
Tet2 C A 3: 133,486,893 M593I probably benign 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
IGL02643:Ttpal APN 2 163607220 utr 5 prime probably benign
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
R7471:Ttpal UTSW 2 163607025 splice site probably null
Posted On2012-12-21