Incidental Mutation 'IGL00969:Tubgcp5'
ID27909
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tubgcp5
Ensembl Gene ENSMUSG00000033790
Gene Nametubulin, gamma complex associated protein 5
SynonymsB130010C12Rik, GCP5
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.968) question?
Stock #IGL00969
Quality Score
Status
Chromosome7
Chromosomal Location55794154-55831677 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 55806595 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 312 (S312T)
Ref Sequence ENSEMBL: ENSMUSP00000146111 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032627] [ENSMUST00000205796] [ENSMUST00000206191]
Predicted Effect possibly damaging
Transcript: ENSMUST00000032627
AA Change: S312T

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000032627
Gene: ENSMUSG00000033790
AA Change: S312T

DomainStartEndE-ValueType
low complexity region 109 124 N/A INTRINSIC
Pfam:Spc97_Spc98 273 942 1.2e-126 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205779
Predicted Effect possibly damaging
Transcript: ENSMUST00000205796
AA Change: S312T

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000206191
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206660
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206789
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap9 G A 5: 4,001,550 S1439N probably benign Het
Bcl9l A G 9: 44,508,242 T1069A possibly damaging Het
Btaf1 T G 19: 37,011,252 probably benign Het
Cdc40 A T 10: 40,843,128 V335E probably damaging Het
Cenpj A T 14: 56,564,963 N48K possibly damaging Het
Cfh A G 1: 140,088,682 W635R probably damaging Het
Clca1 A G 3: 145,008,958 S633P possibly damaging Het
Cnot6 T C 11: 49,685,120 M176V probably benign Het
Cryz G T 3: 154,618,526 E51* probably null Het
Dcc A G 18: 71,456,883 Y681H probably benign Het
Dmxl1 T A 18: 49,912,725 N2412K probably benign Het
Gpr137b C T 13: 13,365,065 W258* probably null Het
Hnf1b A G 11: 83,882,700 T242A probably benign Het
Hsd11b1 A T 1: 193,223,644 C213* probably null Het
Igsf11 A T 16: 39,008,917 T117S probably damaging Het
Inpp5b T C 4: 124,783,994 Y416H probably damaging Het
Kcnq3 C A 15: 66,004,726 V523F probably damaging Het
Krtap9-5 T C 11: 99,948,465 probably benign Het
Lrig3 T C 10: 125,997,115 L286S probably damaging Het
Myo18b C T 5: 112,875,007 probably benign Het
Nupl1 A G 14: 60,228,916 probably benign Het
Olfr1008 G A 2: 85,689,663 C78Y probably benign Het
Olfr1442 T C 19: 12,674,241 L12P probably damaging Het
Olfr186 A G 16: 59,027,631 I92T possibly damaging Het
Olfr623 T A 7: 103,661,067 Y61F probably damaging Het
Pyroxd2 T C 19: 42,731,438 D443G possibly damaging Het
Ttc28 A G 5: 111,225,740 D1014G probably benign Het
Uckl1 T C 2: 181,569,617 D473G probably benign Het
Vmn2r76 G T 7: 86,228,717 H491N probably benign Het
Wwc2 G A 8: 47,846,158 R1039W unknown Het
Zc3h14 T A 12: 98,758,843 S255T probably benign Het
Zfp369 T C 13: 65,297,260 V739A probably benign Het
Zfyve21 A G 12: 111,824,934 probably benign Het
Znhit6 A G 3: 145,594,596 probably benign Het
Other mutations in Tubgcp5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01291:Tubgcp5 APN 7 55808529 missense possibly damaging 0.83
IGL01343:Tubgcp5 APN 7 55796031 splice site probably benign
IGL01597:Tubgcp5 APN 7 55806832 splice site probably benign
IGL01688:Tubgcp5 APN 7 55815018 missense possibly damaging 0.92
IGL01843:Tubgcp5 APN 7 55799473 missense probably benign 0.02
IGL01950:Tubgcp5 APN 7 55806088 missense possibly damaging 0.93
IGL01957:Tubgcp5 APN 7 55818757 missense probably damaging 1.00
IGL02902:Tubgcp5 APN 7 55806607 nonsense probably null
IGL03105:Tubgcp5 APN 7 55825581 missense probably damaging 1.00
ANU05:Tubgcp5 UTSW 7 55808529 missense possibly damaging 0.83
R0078:Tubgcp5 UTSW 7 55818895 missense probably damaging 1.00
R0322:Tubgcp5 UTSW 7 55814978 missense probably damaging 0.98
R0362:Tubgcp5 UTSW 7 55800684 missense probably damaging 1.00
R0449:Tubgcp5 UTSW 7 55823567 missense probably benign
R0488:Tubgcp5 UTSW 7 55829338 missense probably damaging 0.96
R0853:Tubgcp5 UTSW 7 55814851 splice site probably benign
R0885:Tubgcp5 UTSW 7 55806055 nonsense probably null
R1483:Tubgcp5 UTSW 7 55825707 critical splice donor site probably null
R1746:Tubgcp5 UTSW 7 55808537 missense probably benign 0.05
R1766:Tubgcp5 UTSW 7 55815020 missense probably benign 0.15
R2148:Tubgcp5 UTSW 7 55799511 missense probably damaging 1.00
R2229:Tubgcp5 UTSW 7 55830881 missense probably damaging 1.00
R3766:Tubgcp5 UTSW 7 55830866 missense probably damaging 0.98
R4154:Tubgcp5 UTSW 7 55805329 missense probably benign 0.01
R4838:Tubgcp5 UTSW 7 55794185 unclassified probably benign
R4948:Tubgcp5 UTSW 7 55806123 missense probably benign 0.00
R5110:Tubgcp5 UTSW 7 55808637 missense probably damaging 0.96
R5347:Tubgcp5 UTSW 7 55823685 missense probably damaging 1.00
R5417:Tubgcp5 UTSW 7 55825661 missense possibly damaging 0.90
R5574:Tubgcp5 UTSW 7 55805329 missense probably benign 0.01
R5758:Tubgcp5 UTSW 7 55818895 missense probably damaging 1.00
R5957:Tubgcp5 UTSW 7 55814962 missense probably benign 0.03
R6014:Tubgcp5 UTSW 7 55823609 missense probably benign
R6141:Tubgcp5 UTSW 7 55806778 missense probably benign 0.30
R6289:Tubgcp5 UTSW 7 55795923 missense probably benign 0.05
R6511:Tubgcp5 UTSW 7 55817392 nonsense probably null
R6563:Tubgcp5 UTSW 7 55825661 missense possibly damaging 0.90
R6574:Tubgcp5 UTSW 7 55823583 missense probably benign
R6596:Tubgcp5 UTSW 7 55806634 missense probably benign 0.38
R7016:Tubgcp5 UTSW 7 55794229 missense possibly damaging 0.76
R7038:Tubgcp5 UTSW 7 55805366 missense probably damaging 0.99
R7075:Tubgcp5 UTSW 7 55829407 missense probably benign 0.04
R7083:Tubgcp5 UTSW 7 55800695 nonsense probably null
R7213:Tubgcp5 UTSW 7 55806112 missense probably damaging 0.97
R7284:Tubgcp5 UTSW 7 55823567 missense probably benign
R7600:Tubgcp5 UTSW 7 55808513 missense probably benign
R7813:Tubgcp5 UTSW 7 55800696 missense possibly damaging 0.49
R7920:Tubgcp5 UTSW 7 55816562 missense probably benign 0.00
R7948:Tubgcp5 UTSW 7 55794248 missense probably benign 0.01
R8438:Tubgcp5 UTSW 7 55804615 missense possibly damaging 0.67
R8499:Tubgcp5 UTSW 7 55804615 missense possibly damaging 0.67
Z1088:Tubgcp5 UTSW 7 55815101 missense probably benign
Posted On2013-04-17