Incidental Mutation 'IGL00969:Tubgcp5'
ID 27909
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tubgcp5
Ensembl Gene ENSMUSG00000033790
Gene Name tubulin, gamma complex component 5
Synonyms GCP5, B130010C12Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.967) question?
Stock # IGL00969
Quality Score
Status
Chromosome 7
Chromosomal Location 55443873-55481207 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 55456343 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8BKN5
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: 4,051,550 (GRCm39) S1439N probably benign Het
Bcl9l A G 9: 44,419,539 (GRCm39) T1069A possibly damaging Het
Btaf1 T G 19: 36,988,652 (GRCm39) probably benign Het
Cdc40 A T 10: 40,719,124 (GRCm39) V335E probably damaging Het
Cenpj A T 14: 56,802,420 (GRCm39) N48K possibly damaging Het
Cfh A G 1: 140,016,420 (GRCm39) W635R probably damaging Het
Clca3a1 A G 3: 144,714,719 (GRCm39) S633P possibly damaging Het
Cnot6 T C 11: 49,575,947 (GRCm39) M176V probably benign Het
Cryz G T 3: 154,324,163 (GRCm39) E51* probably null Het
Dcc A G 18: 71,589,954 (GRCm39) Y681H probably benign Het
Dmxl1 T A 18: 50,045,792 (GRCm39) N2412K probably benign Het
Gpr137b C T 13: 13,539,650 (GRCm39) W258* probably null Het
Hnf1b A G 11: 83,773,526 (GRCm39) T242A probably benign Het
Hsd11b1 A T 1: 192,905,952 (GRCm39) C213* probably null Het
Igsf11 A T 16: 38,829,279 (GRCm39) T117S probably damaging Het
Inpp5b T C 4: 124,677,787 (GRCm39) Y416H probably damaging Het
Kcnq3 C A 15: 65,876,575 (GRCm39) V523F probably damaging Het
Krtap9-5 T C 11: 99,839,291 (GRCm39) probably benign Het
Lrig3 T C 10: 125,832,984 (GRCm39) L286S probably damaging Het
Myo18b C T 5: 113,022,873 (GRCm39) probably benign Het
Nup58 A G 14: 60,466,365 (GRCm39) probably benign Het
Or51b6b T A 7: 103,310,274 (GRCm39) Y61F probably damaging Het
Or5b94 T C 19: 12,651,605 (GRCm39) L12P probably damaging Het
Or5h18 A G 16: 58,847,994 (GRCm39) I92T possibly damaging Het
Or8k16 G A 2: 85,520,007 (GRCm39) C78Y probably benign Het
Pyroxd2 T C 19: 42,719,877 (GRCm39) D443G possibly damaging Het
Ttc28 A G 5: 111,373,606 (GRCm39) D1014G probably benign Het
Uckl1 T C 2: 181,211,410 (GRCm39) D473G probably benign Het
Vmn2r76 G T 7: 85,877,925 (GRCm39) H491N probably benign Het
Wwc2 G A 8: 48,299,193 (GRCm39) R1039W unknown Het
Zc3h14 T A 12: 98,725,102 (GRCm39) S255T probably benign Het
Zfp369 T C 13: 65,445,074 (GRCm39) V739A probably benign Het
Zfyve21 A G 12: 111,791,368 (GRCm39) probably benign Het
Znhit6 A G 3: 145,300,351 (GRCm39) probably benign Het
Other mutations in Tubgcp5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01291:Tubgcp5 APN 7 55,458,277 (GRCm39) missense possibly damaging 0.83
IGL01343:Tubgcp5 APN 7 55,445,779 (GRCm39) splice site probably benign
IGL01597:Tubgcp5 APN 7 55,456,580 (GRCm39) splice site probably benign
IGL01688:Tubgcp5 APN 7 55,464,766 (GRCm39) missense possibly damaging 0.92
IGL01843:Tubgcp5 APN 7 55,449,221 (GRCm39) missense probably benign 0.02
IGL01950:Tubgcp5 APN 7 55,455,836 (GRCm39) missense possibly damaging 0.93
IGL01957:Tubgcp5 APN 7 55,468,505 (GRCm39) missense probably damaging 1.00
IGL02902:Tubgcp5 APN 7 55,456,355 (GRCm39) nonsense probably null
IGL03105:Tubgcp5 APN 7 55,475,329 (GRCm39) missense probably damaging 1.00
ANU05:Tubgcp5 UTSW 7 55,458,277 (GRCm39) missense possibly damaging 0.83
R0078:Tubgcp5 UTSW 7 55,468,643 (GRCm39) missense probably damaging 1.00
R0322:Tubgcp5 UTSW 7 55,464,726 (GRCm39) missense probably damaging 0.98
R0362:Tubgcp5 UTSW 7 55,450,432 (GRCm39) missense probably damaging 1.00
R0449:Tubgcp5 UTSW 7 55,473,315 (GRCm39) missense probably benign
R0488:Tubgcp5 UTSW 7 55,479,086 (GRCm39) missense probably damaging 0.96
R0853:Tubgcp5 UTSW 7 55,464,599 (GRCm39) splice site probably benign
R0885:Tubgcp5 UTSW 7 55,455,803 (GRCm39) nonsense probably null
R1483:Tubgcp5 UTSW 7 55,475,455 (GRCm39) critical splice donor site probably null
R1746:Tubgcp5 UTSW 7 55,458,285 (GRCm39) missense probably benign 0.05
R1766:Tubgcp5 UTSW 7 55,464,768 (GRCm39) missense probably benign 0.15
R2148:Tubgcp5 UTSW 7 55,449,259 (GRCm39) missense probably damaging 1.00
R2229:Tubgcp5 UTSW 7 55,480,629 (GRCm39) missense probably damaging 1.00
R3766:Tubgcp5 UTSW 7 55,480,614 (GRCm39) missense probably damaging 0.98
R4154:Tubgcp5 UTSW 7 55,455,077 (GRCm39) missense probably benign 0.01
R4838:Tubgcp5 UTSW 7 55,443,933 (GRCm39) unclassified probably benign
R4948:Tubgcp5 UTSW 7 55,455,871 (GRCm39) missense probably benign 0.00
R5110:Tubgcp5 UTSW 7 55,458,385 (GRCm39) missense probably damaging 0.96
R5347:Tubgcp5 UTSW 7 55,473,433 (GRCm39) missense probably damaging 1.00
R5417:Tubgcp5 UTSW 7 55,475,409 (GRCm39) missense possibly damaging 0.90
R5574:Tubgcp5 UTSW 7 55,455,077 (GRCm39) missense probably benign 0.01
R5758:Tubgcp5 UTSW 7 55,468,643 (GRCm39) missense probably damaging 1.00
R5957:Tubgcp5 UTSW 7 55,464,710 (GRCm39) missense probably benign 0.03
R6014:Tubgcp5 UTSW 7 55,473,357 (GRCm39) missense probably benign
R6141:Tubgcp5 UTSW 7 55,456,526 (GRCm39) missense probably benign 0.30
R6289:Tubgcp5 UTSW 7 55,445,671 (GRCm39) missense probably benign 0.05
R6511:Tubgcp5 UTSW 7 55,467,140 (GRCm39) nonsense probably null
R6563:Tubgcp5 UTSW 7 55,475,409 (GRCm39) missense possibly damaging 0.90
R6574:Tubgcp5 UTSW 7 55,473,331 (GRCm39) missense probably benign
R6596:Tubgcp5 UTSW 7 55,456,382 (GRCm39) missense probably benign 0.38
R7016:Tubgcp5 UTSW 7 55,443,977 (GRCm39) missense possibly damaging 0.76
R7038:Tubgcp5 UTSW 7 55,455,114 (GRCm39) missense probably damaging 0.99
R7075:Tubgcp5 UTSW 7 55,479,155 (GRCm39) missense probably benign 0.04
R7083:Tubgcp5 UTSW 7 55,450,443 (GRCm39) nonsense probably null
R7213:Tubgcp5 UTSW 7 55,455,860 (GRCm39) missense probably damaging 0.97
R7284:Tubgcp5 UTSW 7 55,473,315 (GRCm39) missense probably benign
R7600:Tubgcp5 UTSW 7 55,458,261 (GRCm39) missense probably benign
R7813:Tubgcp5 UTSW 7 55,450,444 (GRCm39) missense possibly damaging 0.49
R7920:Tubgcp5 UTSW 7 55,466,310 (GRCm39) missense probably benign 0.00
R7948:Tubgcp5 UTSW 7 55,443,996 (GRCm39) missense probably benign 0.01
R8438:Tubgcp5 UTSW 7 55,454,363 (GRCm39) missense possibly damaging 0.67
R8499:Tubgcp5 UTSW 7 55,454,363 (GRCm39) missense possibly damaging 0.67
R9087:Tubgcp5 UTSW 7 55,467,106 (GRCm39) missense probably damaging 1.00
R9211:Tubgcp5 UTSW 7 55,456,331 (GRCm39) missense probably benign 0.05
R9269:Tubgcp5 UTSW 7 55,445,693 (GRCm39) missense possibly damaging 0.94
R9329:Tubgcp5 UTSW 7 55,479,181 (GRCm39) critical splice donor site probably null
R9355:Tubgcp5 UTSW 7 55,467,177 (GRCm39) critical splice donor site probably null
R9498:Tubgcp5 UTSW 7 55,463,233 (GRCm39) missense possibly damaging 0.46
R9687:Tubgcp5 UTSW 7 55,475,327 (GRCm39) critical splice acceptor site probably null
Z1088:Tubgcp5 UTSW 7 55,464,849 (GRCm39) missense probably benign
Posted On 2013-04-17