Incidental Mutation 'R6141:Tubgcp5'
ID 488578
Institutional Source Beutler Lab
Gene Symbol Tubgcp5
Ensembl Gene ENSMUSG00000033790
Gene Name tubulin, gamma complex component 5
Synonyms GCP5, B130010C12Rik
MMRRC Submission 044288-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.967) question?
Stock # R6141 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 55443873-55481207 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55456526 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 373 (I373V)
Ref Sequence ENSEMBL: ENSMUSP00000146111 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032627] [ENSMUST00000205796] [ENSMUST00000206191]
AlphaFold Q8BKN5
Predicted Effect probably benign
Transcript: ENSMUST00000032627
AA Change: I373V

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000032627
Gene: ENSMUSG00000033790
AA Change: I373V

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 probably benign
Transcript: ENSMUST00000205796
AA Change: I373V

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000206191
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206660
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206789
Meta Mutation Damage Score 0.0641 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 100% (51/51)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933421I07Rik A T 7: 42,097,483 (GRCm39) C4S probably damaging Het
Abhd5 A T 9: 122,206,998 (GRCm39) T95S probably benign Het
Ambra1 A T 2: 91,706,099 (GRCm39) N795Y probably damaging Het
Brca2 A G 5: 150,464,102 (GRCm39) N1289D possibly damaging Het
Cavin2 T C 1: 51,340,097 (GRCm39) L258P probably damaging Het
Ccdc110 A G 8: 46,394,807 (GRCm39) T233A possibly damaging Het
Ccdc14 T A 16: 34,526,932 (GRCm39) I279N probably damaging Het
Cntn5 A T 9: 10,144,162 (GRCm39) L169Q probably benign Het
Dbf4 T C 5: 8,458,545 (GRCm39) S157G possibly damaging Het
Defb22 A T 2: 152,327,722 (GRCm39) N154K unknown Het
Eepd1 T A 9: 25,394,280 (GRCm39) D181E probably benign Het
Etfa T C 9: 55,372,103 (GRCm39) H286R probably damaging Het
Gm44419 T A 6: 65,127,940 (GRCm39) noncoding transcript Het
Gpatch4 C T 3: 87,962,047 (GRCm39) R155* probably null Het
Grik1 T G 16: 87,693,760 (GRCm39) R862S probably benign Het
Hectd1 A C 12: 51,792,875 (GRCm39) probably null Het
Ift122 T C 6: 115,892,972 (GRCm39) W919R probably damaging Het
Iqgap2 A T 13: 95,858,194 (GRCm39) probably null Het
Kcnq4 A T 4: 120,573,066 (GRCm39) I245N probably damaging Het
Map3k3 G T 11: 105,987,874 (GRCm39) R21L probably benign Het
Mllt10 T C 2: 18,215,604 (GRCm39) V1063A probably damaging Het
Msr1 A T 8: 40,084,360 (GRCm39) V65E probably damaging Het
Myom2 A T 8: 15,113,903 (GRCm39) D17V probably damaging Het
Naaladl1 T A 19: 6,159,785 (GRCm39) probably null Het
Naip6 T C 13: 100,444,741 (GRCm39) Y239C possibly damaging Het
Nckap1 C A 2: 80,360,551 (GRCm39) D533Y probably damaging Het
Ndufs2 T C 1: 171,064,185 (GRCm39) E375G probably damaging Het
Nsd1 T C 13: 55,439,097 (GRCm39) V1605A probably damaging Het
Or4k42 A G 2: 111,320,464 (GRCm39) I13T probably benign Het
Or52ae9 C A 7: 103,389,994 (GRCm39) R151L probably damaging Het
Or5ac17 T A 16: 59,036,916 (GRCm39) H20L probably benign Het
Or5b114-ps1 A T 19: 13,352,647 (GRCm39) Y107F probably benign Het
Or7e176 T A 9: 20,171,754 (GRCm39) M206K probably benign Het
Pcp2 G A 8: 3,673,543 (GRCm39) probably null Het
Pdgfra A G 5: 75,334,057 (GRCm39) S377G probably damaging Het
Reep5 A T 18: 34,505,511 (GRCm39) Y53* probably null Het
Ric1 T C 19: 29,572,842 (GRCm39) S761P probably damaging Het
Satb1 T C 17: 52,082,404 (GRCm39) T417A possibly damaging Het
Slc1a7 T A 4: 107,859,379 (GRCm39) M156K possibly damaging Het
Slc4a10 A G 2: 62,041,789 (GRCm39) E123G probably damaging Het
Slc66a1 A G 4: 139,027,556 (GRCm39) V262A probably benign Het
Snupn C A 9: 56,890,108 (GRCm39) Q310K possibly damaging Het
Stard13 A T 5: 150,965,707 (GRCm39) V916E probably damaging Het
Tlr1 T C 5: 65,082,556 (GRCm39) R674G possibly damaging Het
Tnfsf11 A G 14: 78,545,299 (GRCm39) Y11H probably damaging Het
Tnr T A 1: 159,714,692 (GRCm39) V857E probably benign Het
Ush2a A T 1: 188,090,160 (GRCm39) R414S possibly damaging Het
Vmn2r100 T C 17: 19,742,576 (GRCm39) S317P probably benign Het
Wdr49 A T 3: 75,230,989 (GRCm39) F558I probably benign Het
Zfyve16 A G 13: 92,648,105 (GRCm39) I983T 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
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'- CAAATAGCAGCGTATGGCCAG -3'
(R):5'- CTGTAAGCTCTTCAGTAATTTTGGG -3'

Sequencing Primer
(F):5'- CCAGGTTGTGTTTCGGCTCC -3'
(R):5'- GTCCTGCAGATTAAACTCAGGCTG -3'
Posted On 2017-10-10