Incidental Mutation 'IGL02555:Tubgcp3'
ID298470
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tubgcp3
Ensembl Gene ENSMUSG00000000759
Gene Nametubulin, gamma complex associated protein 3
SynonymsSpc98p, GCP3
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.938) question?
Stock #IGL02555
Quality Score
Status
Chromosome8
Chromosomal Location12614277-12672248 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 12639595 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 557 (M557K)
Ref Sequence ENSEMBL: ENSMUSP00000000776 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000776] [ENSMUST00000164774]
Predicted Effect probably benign
Transcript: ENSMUST00000000776
AA Change: M557K

PolyPhen 2 Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000000776
Gene: ENSMUSG00000000759
AA Change: M557K

DomainStartEndE-ValueType
low complexity region 152 171 N/A INTRINSIC
Pfam:Spc97_Spc98 251 761 9.5e-124 PFAM
coiled coil region 787 814 N/A INTRINSIC
low complexity region 821 827 N/A INTRINSIC
low complexity region 890 903 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164611
Predicted Effect probably benign
Transcript: ENSMUST00000164774
SMART Domains Protein: ENSMUSP00000127741
Gene: ENSMUSG00000000759

DomainStartEndE-ValueType
low complexity region 152 171 N/A INTRINSIC
Pfam:Spc97_Spc98 251 361 3.5e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164971
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167547
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168657
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010109I03Rik G T 15: 74,881,608 probably benign Het
Actr1b G A 1: 36,701,747 R199C probably damaging Het
Adam9 T C 8: 24,966,736 N661D probably damaging Het
Amy1 C T 3: 113,564,892 E164K probably benign Het
Arid5b A C 10: 68,101,904 D221E probably benign Het
B3galt1 G T 2: 68,118,561 V207F probably benign Het
Begain A G 12: 109,034,189 S219P probably damaging Het
Clip1 A G 5: 123,621,794 probably null Het
Cps1 A G 1: 67,214,021 K1224R probably benign Het
Dnm1 A G 2: 32,328,038 Y449H probably damaging Het
Epas1 A T 17: 86,829,064 M755L probably benign Het
F13b T C 1: 139,517,186 C525R probably damaging Het
Fmnl2 A G 2: 53,126,851 probably null Het
Gm5346 A T 8: 43,625,268 C640S probably damaging Het
Ighv5-15 A G 12: 113,827,115 F3L probably benign Het
Inpp4a A G 1: 37,379,968 Q538R possibly damaging Het
Insrr A T 3: 87,813,817 M1092L probably damaging Het
Itgb8 C T 12: 119,189,881 V300M probably damaging Het
Kcnk5 A T 14: 20,141,985 H369Q probably benign Het
Olfr1023 G A 2: 85,887,398 M199I probably benign Het
Olfr1249 G A 2: 89,630,203 R232C probably damaging Het
Olfr1294 A G 2: 111,537,917 V124A probably damaging Het
Olfr24 T A 9: 18,755,473 H54L probably benign Het
Plxdc2 A G 2: 16,729,341 I417M probably benign Het
Polr1a G A 6: 71,920,457 E186K probably damaging Het
Ppp3cb A T 14: 20,530,953 F134L probably damaging Het
Prox2 C T 12: 85,095,260 W56* probably null Het
Scaf4 C T 16: 90,250,305 A395T unknown Het
Sh3tc2 G T 18: 61,990,237 A690S probably damaging Het
Slc34a1 T C 13: 55,401,168 S144P possibly damaging Het
Slc6a6 C T 6: 91,748,330 probably benign Het
Vmn2r103 A T 17: 19,811,611 D549V probably damaging Het
Washc2 T A 6: 116,209,100 N90K probably damaging Het
Other mutations in Tubgcp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00424:Tubgcp3 APN 8 12621809 missense probably benign 0.00
IGL00583:Tubgcp3 APN 8 12621906 nonsense probably null
IGL01289:Tubgcp3 APN 8 12639625 missense probably damaging 1.00
IGL01578:Tubgcp3 APN 8 12661297 splice site probably benign
IGL01716:Tubgcp3 APN 8 12641094 splice site probably benign
IGL01943:Tubgcp3 APN 8 12654301 missense probably damaging 1.00
IGL02020:Tubgcp3 APN 8 12637780 missense possibly damaging 0.46
IGL02345:Tubgcp3 APN 8 12625056 missense probably damaging 1.00
IGL02644:Tubgcp3 APN 8 12648733 missense probably damaging 1.00
IGL02976:Tubgcp3 APN 8 12632300 missense probably damaging 1.00
IGL03240:Tubgcp3 APN 8 12649797 missense probably benign 0.07
IGL03287:Tubgcp3 APN 8 12639630 missense possibly damaging 0.77
tinky_winky UTSW 8 12650171 missense probably damaging 1.00
R0145:Tubgcp3 UTSW 8 12657561 missense probably benign 0.01
R0379:Tubgcp3 UTSW 8 12641116 missense probably damaging 0.97
R0558:Tubgcp3 UTSW 8 12653462 missense probably benign 0.00
R1490:Tubgcp3 UTSW 8 12639550 missense probably damaging 1.00
R1709:Tubgcp3 UTSW 8 12639532 nonsense probably null
R1768:Tubgcp3 UTSW 8 12649686 unclassified probably benign
R1921:Tubgcp3 UTSW 8 12621932 nonsense probably null
R1928:Tubgcp3 UTSW 8 12663988 missense possibly damaging 0.94
R2161:Tubgcp3 UTSW 8 12632292 missense probably benign 0.22
R3120:Tubgcp3 UTSW 8 12657626 missense possibly damaging 0.51
R3434:Tubgcp3 UTSW 8 12658381 splice site probably null
R4011:Tubgcp3 UTSW 8 12639634 nonsense probably null
R4162:Tubgcp3 UTSW 8 12639547 missense possibly damaging 0.46
R4300:Tubgcp3 UTSW 8 12657600 missense probably damaging 0.99
R4350:Tubgcp3 UTSW 8 12641117 missense probably benign 0.19
R4529:Tubgcp3 UTSW 8 12663932 missense probably damaging 0.98
R4530:Tubgcp3 UTSW 8 12663932 missense probably damaging 0.98
R4531:Tubgcp3 UTSW 8 12663932 missense probably damaging 0.98
R4676:Tubgcp3 UTSW 8 12650171 missense probably damaging 1.00
R4730:Tubgcp3 UTSW 8 12657654 missense probably benign 0.03
R4828:Tubgcp3 UTSW 8 12671987 missense probably benign
R4860:Tubgcp3 UTSW 8 12649722 missense probably benign 0.03
R4860:Tubgcp3 UTSW 8 12649722 missense probably benign 0.03
R5610:Tubgcp3 UTSW 8 12639577 missense probably damaging 1.00
R5625:Tubgcp3 UTSW 8 12624888 missense possibly damaging 0.46
R5650:Tubgcp3 UTSW 8 12648670 missense probably damaging 0.98
R5775:Tubgcp3 UTSW 8 12625056 missense probably damaging 1.00
R6257:Tubgcp3 UTSW 8 12649835 splice site probably null
R6314:Tubgcp3 UTSW 8 12648625 missense probably benign 0.02
R6970:Tubgcp3 UTSW 8 12637000 missense probably damaging 0.98
Posted On2015-04-16