Incidental Mutation 'R8499:Tubgcp5'
ID 658417
Institutional Source Beutler Lab
Gene Symbol Tubgcp5
Ensembl Gene ENSMUSG00000033790
Gene Name tubulin, gamma complex component 5
Synonyms GCP5, B130010C12Rik
MMRRC Submission 067941-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.967) question?
Stock # R8499 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 55443873-55481207 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 55454363 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 219 (H219Q)
Ref Sequence ENSEMBL: ENSMUSP00000032627 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032627] [ENSMUST00000205796] [ENSMUST00000206191]
AlphaFold Q8BKN5
Predicted Effect possibly damaging
Transcript: ENSMUST00000032627
AA Change: H219Q

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000032627
Gene: ENSMUSG00000033790
AA Change: H219Q

DomainStartEndE-ValueType
low complexity region 109 124 N/A INTRINSIC
Pfam:Spc97_Spc98 273 942 1.2e-126 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000205796
AA Change: H219Q

PolyPhen 2 Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000206191
AA Change: M197K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (49/49)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 A G 8: 41,208,189 (GRCm39) D485G probably damaging Het
Ap4b1 G A 3: 103,728,018 (GRCm39) R344Q probably damaging Het
Apol7c G T 15: 77,410,280 (GRCm39) P222Q possibly damaging Het
Atf6b T C 17: 34,869,796 (GRCm39) L272P probably damaging Het
Atp11b G T 3: 35,864,854 (GRCm39) R559I probably benign Het
Bhmt T A 13: 93,756,600 (GRCm39) I343F probably benign Het
Btbd7 A T 12: 102,754,631 (GRCm39) F712I probably damaging Het
Card14 T C 11: 119,222,070 (GRCm39) L455P probably benign Het
Cast A T 13: 74,946,835 (GRCm39) H26Q probably benign Het
Clcn1 A G 6: 42,284,133 (GRCm39) N567S probably damaging Het
Cnot6l A T 5: 96,225,176 (GRCm39) W506R probably damaging Het
Dynap T A 18: 70,374,044 (GRCm39) I161L unknown Het
Eif4g3 A C 4: 137,893,239 (GRCm39) T996P probably damaging Het
Exoc8 A G 8: 125,623,849 (GRCm39) Y173H probably benign Het
Fbll1 C T 11: 35,688,907 (GRCm39) V119M probably damaging Het
Fbxw22 A T 9: 109,214,068 (GRCm39) F249L probably benign Het
Fxyd1 C A 7: 30,752,529 (GRCm39) probably benign Het
Grhl3 C A 4: 135,276,549 (GRCm39) probably null Het
Grk4 A G 5: 34,902,690 (GRCm39) E414G possibly damaging Het
H2bc8 T A 13: 23,755,880 (GRCm39) S92T probably benign Het
H2-Q5 A G 17: 35,613,820 (GRCm39) D123G Het
H2-Q5 C T 17: 35,613,945 (GRCm39) R165* probably null Het
Hgf A T 5: 16,771,854 (GRCm39) E160D probably damaging Het
Ifi211 T C 1: 173,733,086 (GRCm39) I192V probably benign Het
Klk1b22 T C 7: 43,762,144 (GRCm39) F7L probably benign Het
Lcmt1 C A 7: 123,029,371 (GRCm39) T331N probably benign Het
Lrrc36 A T 8: 106,176,168 (GRCm39) T181S possibly damaging Het
Ltbp3 T A 19: 5,798,712 (GRCm39) S520T probably benign Het
Nacc1 A T 8: 85,403,345 (GRCm39) C177S probably damaging Het
Nedd4l T A 18: 65,342,728 (GRCm39) V888E probably damaging Het
Oc90 C T 15: 65,753,405 (GRCm39) G305S probably damaging Het
Or51a25 A G 7: 102,372,932 (GRCm39) V255A probably damaging Het
Or52i2 T A 7: 102,320,012 (GRCm39) I295N probably damaging Het
Pappa2 T A 1: 158,764,092 (GRCm39) D473V probably damaging Het
Pou2f2 C A 7: 24,799,623 (GRCm39) G117C probably damaging Het
Prkci A G 3: 31,079,366 (GRCm39) H68R probably damaging Het
Pygm A G 19: 6,440,392 (GRCm39) K479E probably damaging Het
Qpct A G 17: 79,384,996 (GRCm39) D212G probably damaging Het
Sh3glb2 A T 2: 30,249,216 (GRCm39) M1K probably null Het
Slc22a5 A G 11: 53,758,469 (GRCm39) S444P probably damaging Het
Snai3 G A 8: 123,183,144 (GRCm39) H134Y probably benign Het
Synpo T C 18: 60,736,044 (GRCm39) D395G probably damaging Het
Tmem63c C T 12: 87,119,738 (GRCm39) T344I probably damaging Het
Tnfsf14 A G 17: 57,497,534 (GRCm39) Y233H Het
Ttn A G 2: 76,749,335 (GRCm39) F3905L probably benign Het
Usp16 C T 16: 87,271,536 (GRCm39) T364M possibly damaging Het
Vmn1r59 C T 7: 5,457,750 (GRCm39) M3I probably benign Het
Vmn2r61 T A 7: 41,949,700 (GRCm39) C707S probably damaging Het
Vps13b T C 15: 35,841,466 (GRCm39) S2499P probably damaging Het
Ythdf3 A G 3: 16,259,179 (GRCm39) E442G possibly damaging Het
Zfp1001 T C 2: 150,204,907 (GRCm39) S74P 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
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
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'- AGACTACACTGTGGCCATGG -3'
(R):5'- CACCATGATGTTATGTGCACTC -3'

Sequencing Primer
(F):5'- GGAGAGCCCTCATAGACAGAGTTTC -3'
(R):5'- TTGCATACATTCCACTACACTTG -3'
Posted On 2021-01-18