Incidental Mutation 'R2879:Ttpal'
ID 260215
Institutional Source Beutler Lab
Gene Symbol Ttpal
Ensembl Gene ENSMUSG00000017679
Gene Name tocopherol (alpha) transfer protein-like
Synonyms 5830472M02Rik, 3110080A02Rik
MMRRC Submission 040467-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.131) question?
Stock # R2879 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 163444234-163460933 bp(+) (GRCm39)
Type of Mutation splice site (3686 bp from exon)
DNA Base Change (assembly) A to G at 163457503 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121527 (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: D325G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105035
Gene: ENSMUSG00000017679
AA Change: D325G

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 null
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: D325G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000128922
Gene: ENSMUSG00000017679
AA Change: D325G

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 G C 17: 24,508,481 (GRCm39) T1018R probably damaging Het
Acte1 T A 7: 143,447,800 (GRCm39) Y214* probably null Het
Akap9 A G 5: 4,026,353 (GRCm39) probably benign Het
Ankrd29 G A 18: 12,387,757 (GRCm39) A275V possibly damaging Het
Ano6 T A 15: 95,841,308 (GRCm39) C468* probably null Het
Arhgef10l G T 4: 140,242,598 (GRCm39) H890Q probably benign Het
Ccnj T A 19: 40,833,158 (GRCm39) L112Q probably damaging Het
Chaf1a T C 17: 56,351,114 (GRCm39) probably null Het
Chchd4 A G 6: 91,442,200 (GRCm39) S73P probably damaging Het
Chd3 T C 11: 69,254,924 (GRCm39) K139E possibly damaging Het
Cyp2b13 T G 7: 25,785,456 (GRCm39) probably null Het
Dagla T C 19: 10,248,448 (GRCm39) I71V possibly damaging Het
Epor A T 9: 21,870,936 (GRCm39) W315R probably damaging Het
Etv1 T A 12: 38,833,809 (GRCm39) probably null Het
Fbn2 A T 18: 58,202,314 (GRCm39) C1280S probably damaging Het
Fbxo2 G C 4: 148,250,468 (GRCm39) R269P probably damaging Het
Fer1l4 A T 2: 155,894,120 (GRCm39) L61Q probably damaging Het
Ggnbp2 C T 11: 84,723,797 (GRCm39) probably null Het
Grm7 G T 6: 110,623,309 (GRCm39) V161F probably damaging Het
Ibsp G A 5: 104,458,260 (GRCm39) E266K possibly damaging Het
Lamb3 T A 1: 193,013,092 (GRCm39) M439K possibly damaging Het
Lnx1 C T 5: 74,780,784 (GRCm39) V246M probably benign Het
Lrrc32 A G 7: 98,148,984 (GRCm39) Q588R probably benign Het
Magi2 A AG 5: 20,807,459 (GRCm39) probably null Het
Med13 C T 11: 86,189,988 (GRCm39) A974T possibly damaging Het
Mogat2 A T 7: 98,871,573 (GRCm39) I246N possibly damaging Het
Myl2 T C 5: 122,242,748 (GRCm39) probably null Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Or1p1c T A 11: 74,161,049 (GRCm39) V278D probably damaging Het
Osbpl8 T A 10: 111,105,297 (GRCm39) S251T probably benign Het
Pik3r2 A G 8: 71,225,029 (GRCm39) Y145H probably benign Het
Plg A G 17: 12,622,987 (GRCm39) E509G possibly damaging Het
Pnkp T A 7: 44,508,102 (GRCm39) S142T probably damaging Het
Ros1 C T 10: 52,048,936 (GRCm39) probably null Het
Sbno1 A G 5: 124,526,635 (GRCm39) M960T probably damaging Het
Smad1 T C 8: 80,080,084 (GRCm39) probably null Het
Ssc5d G A 7: 4,939,906 (GRCm39) probably null Het
Tfcp2 C T 15: 100,449,201 (GRCm39) probably null Het
Tmem121 A G 12: 113,152,028 (GRCm39) Y82C probably damaging Het
Tmem131 T C 1: 36,880,788 (GRCm39) I161V possibly damaging Het
Tpp2 T A 1: 44,010,783 (GRCm39) F523L probably damaging Het
Ttn C T 2: 76,601,849 (GRCm39) silent Het
Vdr T A 15: 97,757,008 (GRCm39) Y288F probably benign Het
Wipf2 C T 11: 98,783,480 (GRCm39) A302V probably benign Het
Zfp346 T G 13: 55,253,163 (GRCm39) C3G possibly damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- TCCATGGGTCTGACCTGAAC -3'
(R):5'- CTTAAATCTCTGCAGGCAGCTCC -3'

Sequencing Primer
(F):5'- ATGGGTCTGACCTGAACTCTCTC -3'
(R):5'- GAAGGAATCACACACGGT -3'
Posted On 2015-01-23