Incidental Mutation 'IGL02813:Grtp1'
ID 360671
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Grtp1
Ensembl Gene ENSMUSG00000038515
Gene Name GH regulated TBC protein 1
Synonyms Tbc1d6, 5430401C05Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02813
Quality Score
Status
Chromosome 8
Chromosomal Location 13226869-13250695 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 13236945 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 173 (I173S)
Ref Sequence ENSEMBL: ENSMUSP00000147337 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165605] [ENSMUST00000209691] [ENSMUST00000209895] [ENSMUST00000210317] [ENSMUST00000211128]
AlphaFold Q9D3N8
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157429
Predicted Effect probably benign
Transcript: ENSMUST00000165605
AA Change: I190S

PolyPhen 2 Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000130324
Gene: ENSMUSG00000038515
AA Change: I190S

DomainStartEndE-ValueType
TBC 71 287 2.03e-56 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209465
Predicted Effect possibly damaging
Transcript: ENSMUST00000209691
AA Change: I120S

PolyPhen 2 Score 0.532 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000209895
AA Change: I173S

PolyPhen 2 Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000210317
AA Change: I173S

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000211128
AA Change: I173S

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 C A 11: 7,096,591 (GRCm39) Q660K possibly damaging Het
Arhgap5 A C 12: 52,563,748 (GRCm39) T240P probably benign Het
Arhgef7 C T 8: 11,850,767 (GRCm39) probably benign Het
Cttnbp2 C A 6: 18,367,537 (GRCm39) V1594F possibly damaging Het
Cyp2a22 G T 7: 26,635,859 (GRCm39) Q235K probably benign Het
Dennd11 C T 6: 40,395,473 (GRCm39) V212I probably benign Het
Dynlt5 A G 4: 102,849,769 (GRCm39) N64S probably damaging Het
Ecm1 G A 3: 95,644,098 (GRCm39) P169S probably damaging Het
Emilin3 G A 2: 160,750,649 (GRCm39) Q320* probably null Het
Ern1 T C 11: 106,314,251 (GRCm39) D183G probably damaging Het
Gpat2 T C 2: 127,276,375 (GRCm39) V635A possibly damaging Het
Gria1 A G 11: 57,174,410 (GRCm39) N564S probably damaging Het
Hsd17b4 A G 18: 50,261,415 (GRCm39) probably benign Het
Lrp1b T C 2: 40,569,229 (GRCm39) probably null Het
Mark4 A T 7: 19,181,181 (GRCm39) probably null Het
Mphosph9 T C 5: 124,453,691 (GRCm39) D207G probably benign Het
Mrgprd A G 7: 144,875,251 (GRCm39) M41V probably benign Het
Myo1g T C 11: 6,468,743 (GRCm39) *66W probably null Het
Neto2 C A 8: 86,417,515 (GRCm39) D30Y probably benign Het
Nlrp6 A T 7: 140,503,333 (GRCm39) I450F possibly damaging Het
Nup155 T A 15: 8,159,605 (GRCm39) probably benign Het
Or4c11c A G 2: 88,661,495 (GRCm39) I11M probably benign Het
Pcdhb10 T G 18: 37,546,815 (GRCm39) S630R possibly damaging Het
Rwdd4a T C 8: 47,990,396 (GRCm39) probably null Het
Slc12a7 T A 13: 73,961,795 (GRCm39) probably benign Het
Slc22a20 C T 19: 6,034,886 (GRCm39) V192I probably benign Het
Slc9a2 T A 1: 40,781,829 (GRCm39) S353T probably damaging Het
Srgap3 A G 6: 112,708,441 (GRCm39) F753L probably damaging Het
Tcea1 C T 1: 4,956,979 (GRCm39) T93I probably benign Het
Tecpr2 A T 12: 110,899,626 (GRCm39) S665C probably damaging Het
Tor4a C A 2: 25,084,761 (GRCm39) E381* probably null Het
Vdr A G 15: 97,767,562 (GRCm39) Y143H probably benign Het
Vmn2r91 A C 17: 18,356,348 (GRCm39) T672P possibly damaging Het
Wdr41 A G 13: 95,131,753 (GRCm39) probably null Het
Other mutations in Grtp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01384:Grtp1 APN 8 13,229,629 (GRCm39) missense probably damaging 0.99
R0811:Grtp1 UTSW 8 13,229,639 (GRCm39) missense possibly damaging 0.78
R0812:Grtp1 UTSW 8 13,229,639 (GRCm39) missense possibly damaging 0.78
R1985:Grtp1 UTSW 8 13,229,376 (GRCm39) missense probably damaging 1.00
R2937:Grtp1 UTSW 8 13,239,755 (GRCm39) splice site probably benign
R3967:Grtp1 UTSW 8 13,239,705 (GRCm39) missense probably benign 0.25
R4968:Grtp1 UTSW 8 13,242,184 (GRCm39) missense probably damaging 1.00
R7665:Grtp1 UTSW 8 13,227,103 (GRCm39) missense probably benign 0.01
R8682:Grtp1 UTSW 8 13,229,499 (GRCm39) missense probably damaging 1.00
Z1176:Grtp1 UTSW 8 13,250,199 (GRCm39) missense probably benign 0.00
Posted On 2015-12-18