Incidental Mutation 'IGL02074:Ttr'
ID185930
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ttr
Ensembl Gene ENSMUSG00000061808
Gene Nametransthyretin
Synonymsprealbumin
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.089) question?
Stock #IGL02074
Quality Score
Status
Chromosome18
Chromosomal Location20665250-20674324 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 20666523 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 46 (V46A)
Ref Sequence ENSEMBL: ENSMUSP00000074783 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075312]
PDB Structure
[]
Predicted Effect probably benign
Transcript: ENSMUST00000075312
AA Change: V46A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000074783
Gene: ENSMUSG00000061808
AA Change: V46A

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
TR_THY 27 147 5.95e-91 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130296
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a carrier protein responsible for the transport of thyroid hormones and retinol. The protein consists of a tetramer of identical subunits. Due to increased stability of the tetramer form of this encoded protein in mouse, compared to the human protein, this gene product has a reduced tendency to form amyloid fibrils. In humans, this protein binds beta-amyloid preventing its aggregation and providing a neuroprotective role in Alzheimer's disease. [provided by RefSeq, Mar 2010]
PHENOTYPE: Homozygous mutation of this gene results in decreased circulating thyroxine, triiodothyronine, and retinol levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T C 11: 110,293,350 S974G probably benign Het
Abi2 T C 1: 60,447,307 V209A probably damaging Het
Ankrd33b C A 15: 31,297,661 V317F probably damaging Het
Arcn1 A G 9: 44,759,012 C106R probably benign Het
Arhgap35 T C 7: 16,563,055 H695R probably benign Het
Bag4 G T 8: 25,769,355 T272K possibly damaging Het
Cnot6 T C 11: 49,689,243 H74R probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dab1 C A 4: 104,727,854 A397D possibly damaging Het
Dhrs7b C A 11: 60,851,754 Q91K probably benign Het
Dixdc1 C T 9: 50,702,017 V212M probably benign Het
Eea1 A G 10: 96,037,487 E1137G probably damaging Het
Ercc8 T C 13: 108,158,784 probably benign Het
Fam163b C T 2: 27,113,558 C28Y probably damaging Het
Fgd6 A T 10: 94,127,435 I1132F probably damaging Het
Grin1 C T 2: 25,298,502 V432I possibly damaging Het
Herc1 A G 9: 66,450,983 S2449G probably benign Het
Herc2 T A 7: 56,087,444 probably benign Het
L1cam A G X: 73,863,013 W275R probably damaging Het
Lrrc6 T C 15: 66,489,490 N54S probably damaging Het
Magi1 A G 6: 93,745,598 V660A probably damaging Het
Mctp2 A T 7: 72,161,258 I656K probably damaging Het
Mtcl1 T C 17: 66,366,468 D633G possibly damaging Het
Nexmif A T X: 104,087,891 M140K probably damaging Het
Olfr543 G T 7: 102,477,472 H133N probably benign Het
Olfr853 A T 9: 19,537,852 I26N possibly damaging Het
Olfr930 A T 9: 38,930,683 T171S probably benign Het
R3hdm1 A G 1: 128,169,038 T146A possibly damaging Het
Rnf123 A T 9: 108,066,889 L508Q probably damaging Het
Scaf4 G T 16: 90,242,920 P812T unknown Het
Slc45a2 A G 15: 11,000,817 M1V probably null Het
Ubxn8 T C 8: 33,623,178 K216R possibly damaging Het
Vmn2r109 T C 17: 20,554,341 I251V probably benign Het
Xlr A T X: 53,796,134 probably benign Het
Zfp142 T G 1: 74,569,863 H1488P probably damaging Het
Other mutations in Ttr
AlleleSourceChrCoordTypePredicted EffectPPH Score
Quid_pro_quo UTSW 18 20673635 missense possibly damaging 0.73
transactional UTSW 18 20670045 nonsense probably null
R0709:Ttr UTSW 18 20669977 critical splice acceptor site probably null
R5133:Ttr UTSW 18 20670110 missense possibly damaging 0.46
R5979:Ttr UTSW 18 20670002 missense probably damaging 1.00
R6239:Ttr UTSW 18 20673635 missense possibly damaging 0.73
R7546:Ttr UTSW 18 20670045 nonsense probably null
Posted On2014-05-07