Incidental Mutation 'R5957:Tubgcp5'
ID 471224
Institutional Source Beutler Lab
Gene Symbol Tubgcp5
Ensembl Gene ENSMUSG00000033790
Gene Name tubulin, gamma complex component 5
Synonyms GCP5, B130010C12Rik
MMRRC Submission 043246-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.967) question?
Stock # R5957 (G1)
Quality Score 122
Status Not validated
Chromosome 7
Chromosomal Location 55443873-55481207 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 55464710 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 530 (S530R)
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: S530R

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000032627
Gene: ENSMUSG00000033790
AA Change: S530R

DomainStartEndE-ValueType
low complexity region 109 124 N/A INTRINSIC
Pfam:Spc97_Spc98 273 942 1.2e-126 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205718
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205779
Predicted Effect probably benign
Transcript: ENSMUST00000205796
AA Change: S530R

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect probably benign
Transcript: ENSMUST00000206191
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206789
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,775,922 (GRCm39) T1704A probably benign Het
Adgrg7 T A 16: 56,593,790 (GRCm39) N142I probably damaging Het
Aldh18a1 A T 19: 40,558,981 (GRCm39) Y286* probably null Het
Arpp21 T C 9: 112,014,754 (GRCm39) T17A probably benign Het
Bnip2 T C 9: 69,906,520 (GRCm39) I147T probably damaging Het
Ccr8 T C 9: 119,922,893 (GRCm39) Y3H probably damaging Het
Cenps C A 4: 149,214,658 (GRCm39) probably benign Het
Cul7 G A 17: 46,968,683 (GRCm39) G553S probably damaging Het
Cyp21a1 A G 17: 35,022,150 (GRCm39) I206T probably benign Het
Dennd4b A G 3: 90,178,272 (GRCm39) D488G probably damaging Het
Dip2b T C 15: 100,107,575 (GRCm39) L1195P probably benign Het
Dmac2l T C 12: 69,790,558 (GRCm39) V185A probably benign Het
Dock5 T A 14: 68,095,443 (GRCm39) H77L probably benign Het
Fbxw13 C T 9: 109,021,734 (GRCm39) probably null Het
Fmnl3 G A 15: 99,223,791 (GRCm39) R302W probably damaging Het
Gbf1 G T 19: 46,234,660 (GRCm39) probably null Het
Gm4846 T C 1: 166,314,522 (GRCm39) I374V probably benign Het
Gsk3b C A 16: 38,014,315 (GRCm39) P258T probably damaging Het
Igsf5 T C 16: 96,165,249 (GRCm39) V8A probably benign Het
Il22 T A 10: 118,041,071 (GRCm39) L59Q probably damaging Het
Ildr1 T C 16: 36,545,896 (GRCm39) *517Q probably null Het
Iqca1 T A 1: 90,008,670 (GRCm39) D450V probably damaging Het
Itga5 T C 15: 103,259,856 (GRCm39) D647G probably benign Het
Myh7 T G 14: 55,226,535 (GRCm39) N408T probably damaging Het
Mylk3 T C 8: 86,055,266 (GRCm39) M564V probably damaging Het
Nsd2 T A 5: 34,012,947 (GRCm39) M407K probably damaging Het
Odad2 T C 18: 7,285,706 (GRCm39) E219G probably benign Het
Oprd1 C T 4: 131,871,474 (GRCm39) V75I probably benign Het
Poli G A 18: 70,650,511 (GRCm39) H310Y probably benign Het
Pramel19 T C 4: 101,798,898 (GRCm39) F290L probably benign Het
Ptch1 C T 13: 63,672,929 (GRCm39) R755H probably damaging Het
Pygl A T 12: 70,246,494 (GRCm39) M351K probably damaging Het
Serpinb9b T C 13: 33,223,831 (GRCm39) L341P possibly damaging Het
Slc47a1 A G 11: 61,235,168 (GRCm39) V555A probably benign Het
Slc8a2 C A 7: 15,879,209 (GRCm39) T565K possibly damaging Het
Snx14 T C 9: 88,285,327 (GRCm39) I446V possibly damaging Het
Syde1 T C 10: 78,425,951 (GRCm39) Y72C probably damaging Het
Trim37 C T 11: 87,036,377 (GRCm39) R138C probably damaging Het
Vps13c T C 9: 67,862,253 (GRCm39) S2957P probably damaging Het
Wdr41 T C 13: 95,133,695 (GRCm39) probably null Het
Zyg11b T C 4: 108,102,210 (GRCm39) K504E probably damaging 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
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'- GGTATAGAATGTCTGAACAACTCATC -3'
(R):5'- GCAGGCCAGAGAAGTCATGC -3'

Sequencing Primer
(F):5'- AGAATGTCTGAACAACTCATCTAAAC -3'
(R):5'- TCATGCAGAGAAGAAGCAGGC -3'
Posted On 2017-03-31