Incidental Mutation 'IGL01384:Grtp1'
ID 78994
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 # IGL01384
Quality Score
Status
Chromosome 8
Chromosomal Location 13226869-13250695 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 13229629 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 253 (V253E)
Ref Sequence ENSEMBL: ENSMUSP00000130324 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033824] [ENSMUST00000165605] [ENSMUST00000209691] [ENSMUST00000209895] [ENSMUST00000210317] [ENSMUST00000211128]
AlphaFold Q9D3N8
Predicted Effect probably benign
Transcript: ENSMUST00000033824
SMART Domains Protein: ENSMUSP00000033824
Gene: ENSMUSG00000031447

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Lamp 106 406 4.8e-118 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000165605
AA Change: V253E

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000130324
Gene: ENSMUSG00000038515
AA Change: V253E

DomainStartEndE-ValueType
TBC 71 287 2.03e-56 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209465
Predicted Effect probably benign
Transcript: ENSMUST00000209516
Predicted Effect probably damaging
Transcript: ENSMUST00000209691
AA Change: V183E

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000209895
Predicted Effect probably damaging
Transcript: ENSMUST00000210317
AA Change: V236E

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000211128
AA Change: V236E

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik A G 2: 68,575,749 (GRCm39) R683G possibly damaging Het
Abca9 A G 11: 110,036,463 (GRCm39) S549P probably damaging Het
Adgrd1 T C 5: 129,174,273 (GRCm39) S17P possibly damaging Het
Ankrd36 C A 11: 5,578,348 (GRCm39) H546N probably benign Het
Aopep C T 13: 63,338,290 (GRCm39) probably benign Het
Bivm T G 1: 44,165,907 (GRCm39) I119S possibly damaging Het
Ccdc88a G T 11: 29,453,915 (GRCm39) D1693Y probably damaging Het
Clcn6 G A 4: 148,103,423 (GRCm39) R242C probably damaging Het
Clec4a2 A C 6: 123,104,947 (GRCm39) K79T probably damaging Het
Cspp1 G A 1: 10,186,905 (GRCm39) R129H probably damaging Het
Cyp2c40 A T 19: 39,801,027 (GRCm39) M47K probably benign Het
Dmxl1 A G 18: 49,990,401 (GRCm39) D280G probably benign Het
Fbxo38 A G 18: 62,655,487 (GRCm39) S400P probably damaging Het
Fsd1 C T 17: 56,303,733 (GRCm39) S491F probably damaging Het
Gen1 T C 12: 11,305,242 (GRCm39) I184M probably benign Het
Gm9949 A T 18: 62,317,089 (GRCm39) probably benign Het
Irag1 A G 7: 110,525,708 (GRCm39) V148A possibly damaging Het
Lamb1 T A 12: 31,370,930 (GRCm39) M1327K probably benign Het
Lrp2 T A 2: 69,313,846 (GRCm39) D2295V probably damaging Het
Lrp2 T C 2: 69,284,156 (GRCm39) D3874G probably null Het
Muc5b A T 7: 141,400,555 (GRCm39) I509F unknown Het
Mug1 A C 6: 121,826,433 (GRCm39) probably benign Het
Myh7 A T 14: 55,208,916 (GRCm39) L1903Q probably damaging Het
Mylk G T 16: 34,759,322 (GRCm39) A1229S probably benign Het
Myorg G T 4: 41,498,151 (GRCm39) A493E probably damaging Het
Ncam1 A T 9: 49,421,152 (GRCm39) I721N possibly damaging Het
Or8b101 T A 9: 38,020,858 (GRCm39) I287N probably damaging Het
Pla2g2c A G 4: 138,471,012 (GRCm39) K131R probably benign Het
Rpgrip1l A T 8: 92,000,268 (GRCm39) I557N probably benign Het
Sirpb1b T A 3: 15,613,789 (GRCm39) N98Y probably damaging Het
Stab1 A G 14: 30,872,365 (GRCm39) V1182A probably benign Het
Tagap1 T C 17: 7,224,282 (GRCm39) D138G probably benign Het
Tiam2 T A 17: 3,477,477 (GRCm39) F567I probably benign Het
Ush2a A T 1: 188,285,425 (GRCm39) D1987V possibly damaging Het
Vmn1r36 A T 6: 66,693,446 (GRCm39) I37N probably damaging Het
Wif1 A T 10: 120,920,855 (GRCm39) T226S possibly damaging Het
Zfp428 A G 7: 24,210,167 (GRCm39) D22G possibly damaging Het
Zfp521 A T 18: 13,976,980 (GRCm39) N1144K probably benign Het
Other mutations in Grtp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02813:Grtp1 APN 8 13,236,945 (GRCm39) missense possibly damaging 0.93
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 2013-11-05