Incidental Mutation 'R6574:Tubgcp5'
ID 523351
Institutional Source Beutler Lab
Gene Symbol Tubgcp5
Ensembl Gene ENSMUSG00000033790
Gene Name tubulin, gamma complex component 5
Synonyms GCP5, B130010C12Rik
MMRRC Submission 044698-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.967) question?
Stock # R6574 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 55443873-55481207 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 55473331 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 803 (P803L)
Ref Sequence ENSEMBL: ENSMUSP00000146111 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032627] [ENSMUST00000205796] [ENSMUST00000206133] [ENSMUST00000206191]
AlphaFold Q8BKN5
Predicted Effect probably benign
Transcript: ENSMUST00000032627
AA Change: P866L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000032627
Gene: ENSMUSG00000033790
AA Change: P866L

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 noncoding transcript
Transcript: ENSMUST00000205718
Predicted Effect probably benign
Transcript: ENSMUST00000205796
AA Change: P803L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000206133
Predicted Effect probably benign
Transcript: ENSMUST00000206191
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206789
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503B20Rik A C 3: 146,356,613 (GRCm39) D98E probably benign Het
Ackr3 T C 1: 90,141,790 (GRCm39) I83T probably damaging Het
Ahnak A T 19: 8,994,411 (GRCm39) M5232L probably benign Het
Ano1 A C 7: 144,161,653 (GRCm39) probably null Het
Arap1 T A 7: 101,053,208 (GRCm39) I532N probably damaging Het
Bsn A G 9: 107,991,153 (GRCm39) V1533A possibly damaging Het
Ccdc83 T C 7: 89,875,885 (GRCm39) S329G possibly damaging Het
Ccno T A 13: 113,124,719 (GRCm39) D96E probably benign Het
Cpsf1 CCCCTGCATGAGGCAGGTCCC CCCC 15: 76,481,655 (GRCm39) probably null Het
Degs1 T C 1: 182,106,638 (GRCm39) Y207C probably damaging Het
Dnah7a A T 1: 53,495,693 (GRCm39) probably null Het
Dnah9 C T 11: 66,059,107 (GRCm39) A63T probably benign Het
Eif4e1b T C 13: 54,932,711 (GRCm39) F100S probably damaging Het
Eps8 A T 6: 137,460,596 (GRCm39) Y722* probably null Het
Etfa A T 9: 55,402,910 (GRCm39) I96N probably damaging Het
Flt4 A G 11: 49,516,199 (GRCm39) T101A probably benign Het
Gabra4 A G 5: 71,781,268 (GRCm39) I381T probably benign Het
Gria2 A G 3: 80,596,603 (GRCm39) V821A probably damaging Het
Gss G T 2: 155,423,931 (GRCm39) T51K probably damaging Het
Igkv13-84 C A 6: 68,916,977 (GRCm39) Y91* probably null Het
Iqcb1 A T 16: 36,691,863 (GRCm39) Q487H probably damaging Het
Itga8 G A 2: 12,234,972 (GRCm39) H429Y probably benign Het
Myo1c T G 11: 75,547,124 (GRCm39) probably benign Het
Odad2 C A 18: 7,129,394 (GRCm39) probably null Het
Pcdhga5 T C 18: 37,828,434 (GRCm39) L294P probably damaging Het
Pkd2l2 T C 18: 34,558,134 (GRCm39) L271P probably damaging Het
Plcb2 T C 2: 118,549,654 (GRCm39) D290G probably damaging Het
Pmp22 C T 11: 63,049,099 (GRCm39) A114V probably damaging Het
Ppp1r15a T C 7: 45,173,533 (GRCm39) D425G probably benign Het
Ppp2r3d G A 9: 101,071,584 (GRCm39) P678L probably benign Het
Ptbp2 T G 3: 119,541,596 (GRCm39) Q147P probably damaging Het
Sez6l A G 5: 112,724,692 (GRCm39) S15P possibly damaging Het
Slc25a10 T C 11: 120,387,903 (GRCm39) F199L probably benign Het
Slc4a8 A G 15: 100,705,197 (GRCm39) N801S probably damaging Het
Sucnr1 T C 3: 59,994,020 (GRCm39) Y183H probably damaging Het
Tmem67 T C 4: 12,063,086 (GRCm39) D520G possibly damaging Het
Trgc3 G T 13: 19,445,293 (GRCm39) R80S probably benign Het
Trrap G T 5: 144,752,360 (GRCm39) probably null Het
Ubash3a A T 17: 31,451,370 (GRCm39) Q423L probably damaging Het
Ucp1 G A 8: 84,020,718 (GRCm39) probably null Het
Vmn2r94 G T 17: 18,476,421 (GRCm39) N425K probably damaging Het
Vps52 A G 17: 34,181,452 (GRCm39) M418V probably null 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
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
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'- AACCTGGTATTTATCTTCCCAAGGC -3'
(R):5'- AAGTGTTCTGTGACTCTTGTATAGC -3'

Sequencing Primer
(F):5'- CATGGAAATGCCCGTGTTAG -3'
(R):5'- AATGTTGTCTCTGAACTACCACTTAC -3'
Posted On 2018-06-22