Incidental Mutation 'R3766:Tubgcp5'
ID 274707
Institutional Source Beutler Lab
Gene Symbol Tubgcp5
Ensembl Gene ENSMUSG00000033790
Gene Name tubulin, gamma complex component 5
Synonyms GCP5, B130010C12Rik
MMRRC Submission 040743-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.967) question?
Stock # R3766 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 55443873-55481207 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 55480614 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1018 (M1018K)
Ref Sequence ENSEMBL: ENSMUSP00000032627 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032627] [ENSMUST00000205796] [ENSMUST00000206133] [ENSMUST00000206191]
AlphaFold Q8BKN5
Predicted Effect probably damaging
Transcript: ENSMUST00000032627
AA Change: M1018K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000032627
Gene: ENSMUSG00000033790
AA Change: M1018K

DomainStartEndE-ValueType
low complexity region 109 124 N/A INTRINSIC
Pfam:Spc97_Spc98 273 942 1.2e-126 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205311
Predicted Effect probably benign
Transcript: ENSMUST00000205796
AA Change: M955K

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
Predicted Effect probably benign
Transcript: ENSMUST00000206133
Predicted Effect probably benign
Transcript: ENSMUST00000206191
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206789
Meta Mutation Damage Score 0.5877 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 98% (41/42)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs C T 5: 125,583,326 (GRCm39) T294M probably damaging Het
Brf2 G T 8: 27,614,496 (GRCm39) T230N possibly damaging Het
Ccne2 A G 4: 11,199,293 (GRCm39) probably benign Het
Crbn T C 6: 106,771,987 (GRCm39) K106E possibly damaging Het
Cttnbp2nl G A 3: 104,912,117 (GRCm39) T589I probably benign Het
Dock10 A G 1: 80,514,643 (GRCm39) S1091P probably damaging Het
Fh1 A G 1: 175,442,316 (GRCm39) V178A probably damaging Het
Fndc1 A G 17: 8,003,253 (GRCm39) S111P probably damaging Het
Frk A G 10: 34,360,001 (GRCm39) M1V probably null Het
Gm29394 C T 15: 57,912,024 (GRCm39) probably benign Het
Herc2 A G 7: 55,813,572 (GRCm39) D2601G probably damaging Het
Hspa13 T C 16: 75,561,974 (GRCm39) D75G probably benign Het
Itgav T C 2: 83,632,229 (GRCm39) probably null Het
Kif6 A T 17: 50,065,671 (GRCm39) probably benign Het
Lypla1 G A 1: 4,911,201 (GRCm39) R104Q probably benign Het
Map1b T C 13: 99,570,595 (GRCm39) K709E unknown Het
Or52l1 A T 7: 104,830,088 (GRCm39) I159K probably damaging Het
Or56b1b G A 7: 108,164,402 (GRCm39) P200L probably benign Het
Pcdhb16 A T 18: 37,611,249 (GRCm39) K70* probably null Het
Pex5l T G 3: 33,061,327 (GRCm39) D174A probably benign Het
Plac8l1 A T 18: 42,313,460 (GRCm39) M94K probably benign Het
Plxna1 T C 6: 89,311,757 (GRCm39) probably benign Het
Psg26 T C 7: 18,208,996 (GRCm39) T471A probably benign Het
Pus3 C A 9: 35,477,968 (GRCm39) T400K probably benign Het
Pxk T C 14: 8,136,863 (GRCm38) probably benign Het
Rapgef2 T C 3: 78,996,057 (GRCm39) T569A probably benign Het
Sall4 T C 2: 168,597,964 (GRCm39) Q292R possibly damaging Het
Slc18b1 A G 10: 23,674,647 (GRCm39) D34G probably damaging Het
Slc45a1 T C 4: 150,722,517 (GRCm39) R456G probably damaging Het
Sox13 T C 1: 133,318,536 (GRCm39) R81G possibly damaging Het
Spag9 A G 11: 93,951,109 (GRCm39) probably benign Het
Ston1 C T 17: 88,942,788 (GRCm39) P65S probably damaging Het
Tada2b A T 5: 36,633,761 (GRCm39) D197E probably benign Het
Tcim T A 8: 24,928,765 (GRCm39) R50W probably damaging Het
Tnpo3 T C 6: 29,579,688 (GRCm39) D235G probably benign Het
Trim59 A G 3: 68,944,137 (GRCm39) V401A probably benign Het
Trpm3 A C 19: 22,425,741 (GRCm39) Q32P probably benign Het
Ube2o A G 11: 116,437,689 (GRCm39) probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Uvrag G T 7: 98,537,350 (GRCm39) S615* probably null Het
Vmn2r6 T A 3: 64,463,929 (GRCm39) I302L probably benign Het
Vmn2r73 C T 7: 85,521,198 (GRCm39) V257I probably benign Het
Other mutations in Tubgcp5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00969:Tubgcp5 APN 7 55,456,343 (GRCm39) missense possibly damaging 0.91
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
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
Predicted Primers PCR Primer
(F):5'- TACTGTGTTCAATGGAAGGCTTTT -3'
(R):5'- CCAGGATAGTGAAATCTAAGACAATTT -3'

Sequencing Primer
(F):5'- TTCTGAGTTCAAGGACAGCC -3'
(R):5'- TTCTGAGCACCAGGTATGTAC -3'
Posted On 2015-04-02