Incidental Mutation 'R5110:Tubgcp5'
ID 393800
Institutional Source Beutler Lab
Gene Symbol Tubgcp5
Ensembl Gene ENSMUSG00000033790
Gene Name tubulin, gamma complex component 5
Synonyms GCP5, B130010C12Rik
MMRRC Submission 042698-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.967) question?
Stock # R5110 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 55443873-55481207 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 55458385 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 432 (R432Q)
Ref Sequence ENSEMBL: ENSMUSP00000146111 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032627] [ENSMUST00000205796] [ENSMUST00000206191]
AlphaFold Q8BKN5
Predicted Effect probably damaging
Transcript: ENSMUST00000032627
AA Change: R432Q

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000032627
Gene: ENSMUSG00000033790
AA Change: R432Q

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 damaging
Transcript: ENSMUST00000205796
AA Change: R432Q

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000206191
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206660
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206789
Meta Mutation Damage Score 0.6716 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.1%
Validation Efficiency 100% (61/61)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik C A 9: 124,057,987 (GRCm39) probably null Het
2310016G11Rik G A 7: 44,327,286 (GRCm39) noncoding transcript Het
Abi2 G A 1: 60,489,280 (GRCm39) V98I probably benign Het
Adam21 T C 12: 81,606,989 (GRCm39) T258A probably benign Het
Adam33 A T 2: 130,895,690 (GRCm39) C542S probably damaging Het
Adamts15 A G 9: 30,832,740 (GRCm39) V265A probably benign Het
Ahnak A T 19: 8,992,123 (GRCm39) D4469V probably damaging Het
Aicda A G 6: 122,538,144 (GRCm39) N101D probably benign Het
Als2 A T 1: 59,224,600 (GRCm39) D1040E probably damaging Het
Car15 T C 16: 17,653,211 (GRCm39) R319G possibly damaging Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Col1a1 T C 11: 94,832,419 (GRCm39) probably null Het
Col25a1 A G 3: 130,378,374 (GRCm39) *594W probably null Het
Cwf19l2 A G 9: 3,450,012 (GRCm39) probably null Het
Dctn4 C T 18: 60,679,387 (GRCm39) P236S probably damaging Het
Dennd2b A G 7: 109,141,697 (GRCm39) S556P probably benign Het
Ehmt1 C A 2: 24,742,802 (GRCm39) C459F probably benign Het
Enox1 T C 14: 77,945,127 (GRCm39) probably null Het
Fam136b-ps A G 15: 31,276,856 (GRCm39) probably benign Het
Fzd1 T C 5: 4,806,448 (GRCm39) D378G probably benign Het
Golga5 G A 12: 102,438,336 (GRCm39) R17Q probably benign Het
Hk1 A T 10: 62,122,430 (GRCm39) Y422N probably damaging Het
Hsf4 A G 8: 105,999,427 (GRCm39) D255G probably benign Het
Ift81 A G 5: 122,689,121 (GRCm39) V665A probably benign Het
Igkv13-84 T C 6: 68,916,592 (GRCm39) F3L probably benign Het
Kcnh1 T A 1: 192,020,055 (GRCm39) S433R possibly damaging Het
Ktn1 A G 14: 47,941,744 (GRCm39) probably benign Het
Lrp4 A T 2: 91,327,417 (GRCm39) D1471V possibly damaging Het
Macf1 A T 4: 123,261,801 (GRCm39) D6990E probably damaging Het
Map3k6 G A 4: 132,974,859 (GRCm39) probably benign Het
Miox T A 15: 89,219,759 (GRCm39) D82E probably benign Het
Or4n5 T G 14: 50,133,032 (GRCm39) I76L possibly damaging Het
Ovgp1 G C 3: 105,885,099 (GRCm39) R133P probably damaging Het
Per2 G A 1: 91,357,237 (GRCm39) T642I possibly damaging Het
Pparg T C 6: 115,449,964 (GRCm39) V321A probably damaging Het
Pptc7 T A 5: 122,446,312 (GRCm39) N17K probably benign Het
Prpf19 T C 19: 10,876,651 (GRCm39) probably benign Het
Rai14 T C 15: 10,690,496 (GRCm39) probably benign Het
Sardh T C 2: 27,079,559 (GRCm39) D911G probably benign Het
Sbf2 T A 7: 109,963,864 (GRCm39) T994S probably benign Het
Slc1a1 G A 19: 28,889,208 (GRCm39) E494K probably benign Het
Smarcc1 A G 9: 110,026,852 (GRCm39) K771E possibly damaging Het
Stim1 T C 7: 101,917,629 (GRCm39) V3A unknown Het
Syne3 G A 12: 104,909,629 (GRCm39) R736C probably benign Het
Synj2 T C 17: 6,087,990 (GRCm39) V986A probably benign Het
Tinag A G 9: 76,859,289 (GRCm39) S440P probably damaging Het
Tshz2 A G 2: 169,726,117 (GRCm39) T238A possibly damaging Het
Ttc8 T C 12: 98,908,562 (GRCm39) M17T probably benign Het
Ugt1a10 T A 1: 87,983,974 (GRCm39) probably null Het
Usp4 T A 9: 108,239,877 (GRCm39) I202N probably damaging Het
Vmn1r194 T G 13: 22,429,170 (GRCm39) S262R probably benign Het
Vmn2r101 T C 17: 19,831,897 (GRCm39) F631S possibly damaging Het
Vps13b T A 15: 35,770,955 (GRCm39) S2133T probably damaging Het
Zfp13 C A 17: 23,799,834 (GRCm39) V77F probably benign Het
Zscan10 T A 17: 23,828,606 (GRCm39) C306S 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
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'- GCTGTGCCTTTCCATATGTCAAAG -3'
(R):5'- ACTGCCTGACATACCATGAG -3'

Sequencing Primer
(F):5'- GCCTTTCCATATGTCAAAGAAAAGGC -3'
(R):5'- TGCCTGACATACCATGAGTTAAAC -3'
Posted On 2016-06-15