Incidental Mutation 'IGL01062:Tamalin'
ID 52752
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tamalin
Ensembl Gene ENSMUSG00000000531
Gene Name trafficking regulator and scaffold protein tamalin
Synonyms tamalin, Grasp
Accession Numbers
Essential gene? Probably non essential (E-score: 0.151) question?
Stock # IGL01062
Quality Score
Status
Chromosome 15
Chromosomal Location 101122088-101130637 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 101126777 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000000543 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000543]
AlphaFold Q9JJA9
Predicted Effect probably benign
Transcript: ENSMUST00000000543
SMART Domains Protein: ENSMUSP00000000543
Gene: ENSMUSG00000000531

DomainStartEndE-ValueType
low complexity region 30 57 N/A INTRINSIC
PDZ 109 189 2.12e-13 SMART
low complexity region 248 277 N/A INTRINSIC
low complexity region 291 312 N/A INTRINSIC
low complexity region 336 347 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180639
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229239
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229610
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that functions as a molecular scaffold, linking receptors, including group 1 metabotropic glutamate receptors, to neuronal proteins. The encoded protein contains conserved domains, including a leucine zipper sequence, PDZ domain and a C-terminal PDZ-binding motif. Alternately spliced transcript variants have been observed for this gene.[provided by RefSeq, Dec 2012]
PHENOTYPE: Mice homozygous for targeted null mutations develop and behave normally under ordinary conditions but display a marked reduction in sensitivity to acute morphine responses and impaired adaptive responses to morphine and cocaine. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Amer3 A G 1: 34,625,820 (GRCm39) K20E probably damaging Het
Arhgap31 A G 16: 38,421,818 (GRCm39) L1416P probably damaging Het
Avpr1a G A 10: 122,285,434 (GRCm39) C242Y probably damaging Het
Bclaf3 T C X: 158,336,415 (GRCm39) Y281H probably benign Het
Cdc14a T A 3: 116,068,361 (GRCm39) probably benign Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cntn4 T C 6: 106,595,239 (GRCm39) probably benign Het
Cyp3a44 T A 5: 145,731,149 (GRCm39) D217V possibly damaging Het
Eprs1 A G 1: 185,111,812 (GRCm39) E274G probably benign Het
Ercc6l2 G T 13: 63,995,268 (GRCm39) Q354H probably null Het
Glb1l A T 1: 75,177,882 (GRCm39) I392N probably damaging Het
Gm3173 T C 14: 15,728,472 (GRCm39) probably null Het
Hadh C T 3: 131,034,640 (GRCm39) V219M probably damaging Het
Hspb9 A G 11: 100,604,761 (GRCm39) H29R possibly damaging Het
Iqgap3 G T 3: 88,017,429 (GRCm39) V240L probably benign Het
Jmjd1c T C 10: 67,062,494 (GRCm39) S1616P probably damaging Het
Knl1 A G 2: 118,907,461 (GRCm39) I1662V probably benign Het
Maco1 A T 4: 134,560,608 (GRCm39) V125E probably damaging Het
Mapre3 A G 5: 31,022,240 (GRCm39) I236V probably benign Het
Med17 T C 9: 15,190,917 (GRCm39) E58G probably benign Het
Myh6 T C 14: 55,189,749 (GRCm39) E1099G probably damaging Het
Myt1 T A 2: 181,439,522 (GRCm39) V348D probably damaging Het
Nat10 A T 2: 103,573,393 (GRCm39) I368N probably damaging Het
Nol6 T C 4: 41,118,205 (GRCm39) I811V probably benign Het
Oas1d C A 5: 121,057,127 (GRCm39) Y244* probably null Het
Or6e1 A T 14: 54,520,181 (GRCm39) M57K probably damaging Het
Osbpl1a A G 18: 13,038,132 (GRCm39) V273A probably benign Het
Pigw T C 11: 84,768,769 (GRCm39) R187G probably benign Het
Plekhg5 G A 4: 152,192,953 (GRCm39) D603N probably damaging Het
Ptprk T C 10: 28,456,414 (GRCm39) V1058A probably damaging Het
Robo4 G A 9: 37,317,296 (GRCm39) S537N probably benign Het
Rptn T A 3: 93,304,489 (GRCm39) F607L probably benign Het
Sall1 A G 8: 89,759,972 (GRCm39) V44A probably damaging Het
Sh3bp4 C A 1: 89,071,682 (GRCm39) Q177K probably benign Het
Skic3 T A 13: 76,303,581 (GRCm39) L1225* probably null Het
Spmip6 T A 4: 41,511,433 (GRCm39) E93D probably damaging Het
Srrt C A 5: 137,294,569 (GRCm39) G779V probably damaging Het
Tex21 T C 12: 76,245,718 (GRCm39) D526G probably benign Het
Vmn1r10 A G 6: 57,090,821 (GRCm39) S138G possibly damaging Het
Yars2 C T 16: 16,124,406 (GRCm39) R338* probably null Het
Zfp454 T C 11: 50,765,033 (GRCm39) E22G probably benign Het
Zzef1 T A 11: 72,765,795 (GRCm39) C1441S probably benign Het
Other mutations in Tamalin
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02069:Tamalin APN 15 101,122,346 (GRCm39) missense probably damaging 1.00
IGL02516:Tamalin APN 15 101,126,932 (GRCm39) missense probably damaging 1.00
IGL02997:Tamalin APN 15 101,128,899 (GRCm39) missense probably damaging 1.00
IGL03079:Tamalin APN 15 101,128,448 (GRCm39) missense probably damaging 1.00
R0020:Tamalin UTSW 15 101,128,433 (GRCm39) missense probably damaging 1.00
R0020:Tamalin UTSW 15 101,128,433 (GRCm39) missense probably damaging 1.00
R1916:Tamalin UTSW 15 101,124,850 (GRCm39) splice site probably benign
R1952:Tamalin UTSW 15 101,122,381 (GRCm39) missense probably benign 0.07
R4247:Tamalin UTSW 15 101,122,418 (GRCm39) missense possibly damaging 0.55
R5040:Tamalin UTSW 15 101,126,923 (GRCm39) missense probably damaging 1.00
R5117:Tamalin UTSW 15 101,128,418 (GRCm39) missense probably damaging 1.00
R7290:Tamalin UTSW 15 101,129,419 (GRCm39) missense probably damaging 1.00
R8141:Tamalin UTSW 15 101,129,790 (GRCm39) missense possibly damaging 0.72
R8239:Tamalin UTSW 15 101,128,902 (GRCm39) missense probably damaging 1.00
Posted On 2013-06-21